DDX ASD DifferentialDiagnosis of Autism Spectrum Disorder

i
Differential Diagnosis of
Autism Spectrum Disorder
ii
iii
Differential Diagnosis of
EDITED BY
K AT H E R I N E K . M . S TA V R O P O U L O S , P H D
AND
J A M E S C . M C PA R T L A N D , P H D
iv
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Library of Congress Cataloging-in-Publication Data

Names: Stavropoulos, Katherine K.M., editor. | McPartland, James C., editor.
Title: Differential diagnosis of autism spectrum disorder /
edited by Katherine K.M. Stavropoulos, PhD and James C. McPartland, PhD.
Description: New York, NY : Oxford University Press, [2022] |
Includes bibliographical references and index.
Identifiers: LCCN 2022006840 (print) | LCCN 2022006841 (ebook) |
ISBN 9780197516881 (paperback) | ISBN 9780197516904 (epub) | ISBN 9780197516911
Subjects: LCSH: Autism spectrum disorders—Diagnosis. | Autism spectrum disorders. |
Autism spectrum disorders in children.
Classification: LCC RC 553 . A88 D 54 2022 (print) | LCC RC 553 . A88 (ebook) |
DDC 616.85/88200835—dc23/eng/20220528
LC record available at https://lccn.loc.gov/2022006840
LC ebook record available at https://lccn.loc.gov/2022006841
DOI: 10.1093/med-psych/9780197516881.001.0001
9 8 7 6 5 4 3 2 1
Printed by Marquis, Canada

v
CONTENTS
Contributors vii
1. Diagnostic Issues and Complexities in Autism and Related Conditions 1

Fred R. Volkmar, Marc Woodbury-Smith, Suzanne L. Macari, and
Roald A. Øien
2. Autism Spectrum Disorder Versus Intellectual Disability 22
Jan Blacher, Bruce L. Baker, and Christine T. Moody
3. Autism Spectrum Disorder Versus Communication Disorders 44
Rhea Paul
4. Autism Spectrum Disorder Versus Attention-Deficit/Hyperactivity
Disorder 68
Naomi O. Davis, Kimberly L. H. Carpenter, and Geraldine Dawson
5. Autism Spectrum Disorder Versus Conduct Problems 86
Chardée Galán and Carla Mazefsky
6. Autism Spectrum Disorder Versus Anxiety Disorders 105
Mikle South, Alexis Brewe, Connor M. Kerns, and Susan White
7. Autism Spectrum Disorder Versus Major Depressive Disorder 135
Katherine K. M. Stavropoulos, Yasamin Bolourian, and Katherine Gotham
8. Autism Spectrum Disorder Versus Obsessive-Compulsive
Disorder and Tourette’s Disorder 158
Morgan M. McNeel, Stacey C. Grebe, Rebecca J. Clayton, Sophie C. Schneider,
Andres G. Viana, Sarah S. Mire, Yasmine Omar, Wayne K. Goodman, and
Eric A. Storch
9. Autism Spectrum Disorder Versus Posttraumatic Stress Disorder 176
Sonja Saqui, Brigid Garvin, and Connor M. Kerns
10. Autism Spectrum Disorders Versus Genetic Syndromes 195
Jamie Capal and Shafali Jeste
11. Clinical Decision-Making in Evidence-Based Assessment:
Disentangling Co-Occurring and Differential Diagnoses
in Individuals With Autism Spectrum Disorder 216
Rebecca Elias and Catherine Lord
About the Authors 231

Index 233
vi
vi
CONTRIBUTORS
Bruce L. Baker, PhD Katherine Gotham, PhD

University of California, Los Angeles Rowan University
Jan Blacher, PhD Stacey C. Grebe
University of California, Riverside University of Houston
Yasamin Bolourian, PhD Shafali Jeste, MD
University of California, Riverside University of California, Los Angeles
Alexis Brewe, MA Connor M. Kerns, PhD
University of Alabama University of British Columbia
Rebecca J. Clayton, PhD, LSSP Catherine Lord, PhD
Baylor College of Medicine University of California, Los Angeles
Jamie Capal, MD Suzanne L. Macari, PhD
University of North Carolina Yale University
Kimberly L. H. Carpenter, PhD Carla Mazefsky, PhD
Duke University University of Pittsburgh
Naomi O. Davis, PhD Morgan M. McNeel
Duke University Baylor College of Medicine
Geraldine Dawson, PhD James C. McPartland, PhD
Duke University Yale University
Rebecca Elias, PhD Sarah S. Mire, PhD
University of California, Los Angeles University of Houston
Chardée Galán, PhD Christine T. Moody, PhD
University of Southern California University of California, Los Angeles
Brigid Garvin, PhD Roald A. Øien, PhD
Drexel University Yale University
Wayne K. Goodman, MD Yasmine Omar, PhD
Baylor College of Medicine Baylor College of Medicine
vi
viii Contributors
Rhea Paul, PhD, CCC-SLP Eric A. Storch, PhD

Sacred Heart University Baylor College of Medicine
Sonja Saqui Andres G. Viana, PhD
University of British Columbia University of Houston
Sophie C. Schneider, PhD Fred R. Volkmar, MD
Baylor College of Medicine Yale University
Mikle South, PhD Susan White, PhD
Brigham Young University University of Alabama
Katherine K. M. Stavropoulos, PhD Marc Woodbury-Smith, PhD
University of California, Riverside Newcastle University
1
Diagnostic Issues and

Complexities in Autism and
Related Conditions
F R E D R . V O L K M A R , M A R C W O O D B U R Y- S
MITH,
SUZANNE L. MACARI, AND ROALD A. ØIEN ■
THE DEVELOPMENT OF THE DIAGNOSTIC CONCEPT
Although cases of autism can, in retrospect, be identified before Kanner’s 1943

classic report (also see Donvan & Zucker, 2016), it was Kanner’s genius to put
together the core features that we continue to associate with autism: autistic
aloneness and restricted interests/difficulties with change. This description was
straightforward and atheoretical and has stood the test of time even as we debate
the boundaries of autism today. The early years following Kanner’s initial presen-
tation were plagued by a lack of consistency in diagnosis and several mistaken
beliefs about autism, for example, associations with childhood schizophrenia and
inappropriate parenting. This changed dramatically in the 1970s as three lines of
evidence helped establish the validity of autism as a diagnostic concept. These in-
cluded (1) the awareness that autism was a brain-based disorder associated with
high rates of epilepsy with peaks of onset in early childhood and adolescence, (2)
the first twin studies of autism made it clear that there was a very strong genetic
component of autism with high concordance in monozygotic twins, and (3) chil-
dren with autism responded best to structured teaching rather than unstructured
psychotherapy (see Jackson & Volkmar, 2019, for a discussion).
Attempts were made in the 1970s to provide better and more accurate clin-
ical guidelines to diagnosis, notably those of Rutter (1978). At the same time,
major changes were happening in the overall approach to psychiatric diagnosis
with the advent of research diagnostic criteria and the more developmentally
friendly multiaxial approaches to diagnosis (see Jackson & Volkamr, 2019, for
2
2 D i f f erential D iagnosis o f A utism S pectrum D isorder
a discussion). These developments led to the decision to include autism as a

new category of the condition in the third edition of the American Psychiatric
Association’s Diagnostic and Statistical Manual of Mental Disorders (DSM-III)
(American Psychiatric Association [APA], 1980).
The official recognition of autism stimulated what became an explosion of re-
search on the condition (Jackson & Volkmar, 2019). However, some difficulties
quickly became apparent, particularly due to a lack of developmental orientation
(Volkmar & McPartland, 2014). These were addressed in a new revision of DSM,
the DSM-III-R (APA, 1987), that appeared only a few years later; in this edition
this revised DSM-III-R had a much greater developmental and flexible orientation
with a polythetic (i.e., different combinations of features could be present) rather
than monothetic approach. Lorna Wing’s broader views heavily influenced the
diagnostic concept (Wing & Gould, 1979).
For DSM-IV, several important issues were addressed in the development of the
definition. These included the attempt to have convergence with the tenth edition
of International Classification of Diseases (ICD-10) (World Health Organization,
1994) as well as a series of preliminary reviews, data reanalysis, and so forth.
A large international field trial was undertaken that lasted for a year and eventu-
ally included nearly 1,000 cases and over 100 raters from over 20 sites worldwide
(Volkmar et al., 1994). As part of this effort, the convergence of the DSM and
ICD definitions was largely achieved with considerable diagnostic flexibility. Its
polythetic approach and grouping of items into the traditional three realms of
difficulty (social, communication play, and restricted interests) meant that any of
over 22,000 combinations of criteria could result in an autism diagnosis. In ad-
dition, some new diagnostic categories, including Asperger’s disorder, were now
included in DSM-IV. This definition endured for nearly two decades.
DSM-5: THE ARRIVAL OF THE AUTISM SPECTRUM
In the nearly 20 years that DSM-IV criteria were in existence, research had mush-
roomed as had the development of standardized assessment tools geared toward
these criteria. The convergence of DSM-IV and ICD-10 was also a major accom-
plishment and fostered the growth of research worldwide. At the same time, sev-
eral concerns arose relative to this approach to diagnosis, including diagnosis
among the young and the higher cognitively functioning, the need for a better
category class name than pervasive developmental disorder, and so forth (Mayes
et al., 2001; Ozonoff & Griffith, 2000). As part of the DSM-5 process, several im-
portant changes were made, including reliance on standardized assessment in-
struments rather than field trials (Greenberg, 2013).
In DSM-5 (APA, 2013) changes included the use of a new term, autism spec-
trum disorder (ASD), both for autism as a condition and the class of conditions
to which it belongs. The other diagnoses previously recognized in DSM-IV were
dropped. What had been the “triad” of impairments spanning social behavior,
communication, and repetitive and restricted behaviors was condensed in a
3
Diagnostic Issues and Complexities3
“dyad,” preserving restricted and repetitive behaviors but merging social and
communicative difficulties into a single domain of difficulties in social commu-
nication and social interaction. This social communication category was made
monothetic; that is, it required that a person demonstrate symptoms across all
three clusters to meet criteria for ASD. The restricted and repetitive behaviors do-
main remained polythetic, but with a reduced number of criteria. Onset in early
life was required. A new diagnosis was included in the communication disorder
section, social communication disorder (SCD), and included individuals with so-
cial language, likely covering some (but not all) the cases previously subsumed
under Asperger’s disorder and pervasive developmental disorder—not otherwise
specified (PDD-NOS). Of note, due to concerns of overstringency, a caveat was
introduced, so that those with “well-established” DSM-IV diagnoses of Asperger’s
and PDD-NOS could retain their diagnoses; this reflected a growing concern that
individuals would lose services with DSM-5. Several other changes were made
in terms of specifiers, for example, with catatonia and severity (see Volkmar &
McPartland, 2014).
AREAS OF DIAGNOSTIC CONTROVERSY
The Problem of Asperger’s and the Broader Autism Phenotype
Asperger’s disorder was first identified in 1944 (Asperger, 1944) and, in many
ways, set the stage for what has been an ongoing debate about narrow or broader
views of autism. This has become even more of an issue with the recognition of
the broader autism phenotype (BAP; Ingersoll & Wainer, 2014) and the recogni-
tion of the complexity of the genetics of autism (Yuen et al., 2019). Indeed, the
use of the term “autism spectrum disorder” in DSM-5 (APA, 2013) itself reflects
an awareness that while Kanner’s (1943) paper initiated the recognition of classic
cases of early infantile autism, there is indeed a spectrum.
Asperger’s disorder was not officially recognized until DSM-IV (APA, 2001),
and until that time research had been limited, and different views of the condition
had emerged. After its recognition research markedly increased, but continued
concerns about best approaches to diagnosis and inconsistency in diagnostic
practice limited this literature. It was dropped in DSM-5, even though a growing
body of work suggested important distinctions based on neuropsychological
problems, patterns of comorbidity, and family history as different from the higher
cognitively functioning case of autism (Miller & Ozonoff, 1997; Woodbury-Smith
et al., 2005). For example, Chiang and colleagues (Chiang et al., 2014) conducted
a meta-analysis of IQ profile differences in 52 studies of cases of higher func-
tioning autism and Asperger disorder. They noted that across these studies overall
IQ scores were higher in the Asperger group. This group also exhibited higher
verbal as compared to performance IQ, supporting the validity of a distinction
of these two categories. These different profiles have important implications for
intervention.
4
Somewhat paradoxically, work on what is a very large group of individuals with

some, but not all, features of autism has been much less extensive than that for
autism, or Asperger’s for that matter. This BAP (Ingersoll et al., 2014) is of great
interest as well, given the growing awareness of the complexity of autism genetics
and the potential for identifying “lesser variants” that might inform work on au-
tism more strictly defined (Yuen et al., 2019).
Age-Related Issues in Diagnosis

Autism in Infants and Young Children
Over the past decade, in part due to a major expansion of research in elevated-
likelihood sibling cohorts and other very young populations, there have been re-
finements in the conceptualization of ASD and how it manifests in infants and
toddlers. As in older children, adolescents, and adults, the phenotypic hetero-
geneity in infants and toddlers with ASD is wide. Furthermore, because ASD is
a developmental disorder, there is the additional complexity of age-related var-
iations in autism features. Studying toddlers with ASD sheds light on the early
developmental course of ASD before effects of intervention take hold and prior to
the influence of secondary or co-occurring symptoms.
The central features of autism in young children span a range of pervasive im-
pairments in social-emotional reciprocity, nonverbal communication, and the
presence of restricted, repetitive behaviors (APA, 2013). The behavioral manifest-
ations of ASD emerge for most children in the second year of life, at a time when
typically developing infants experience precipitous growth in domains of social
communication, verbal and nonverbal development, and play. As infants start to
lag behind peers in these areas and perhaps miss key milestones between the first
and second birthdays, their parents and caregivers become concerned (Chawarska
et al., 2007; DeGiacomo & Fombonne, 1998; Richards et al., 2016) and eventually
proceed down what can be a circuitous path to an ASD diagnosis (Zuckerman
et al., 2015). These impairments manifest in toddlers as several hallmark features,
including the inflexible use of eye contact, reductions in social communication,
and limited attention to the faces and voices of others (Chawarska et al., 2009,
2014; Miller et al., 2017). Thus, among the earliest symptoms of ASD in toddlers
are those that emerge in the context of both dyadic (face-to-face) and triadic
(joint attention) communicative interactions.
Differential diagnosis of autism during infancy and toddlerhood presents
many challenges. The heterogeneous phenotype of ASD varies along dimensions
of symptom severity, cognitive skills, and language abilities; thus, the overlap in
presentation between toddlers with ASD and toddlers with other developmental
delays (DDs) can be substantial. For example, early communicative acts such as
gestures are impaired in both young children with ASD and those with DDs; po-
tential specificity of these deficits to ASD depends on several factors such as the
composition of the DD group and the criteria used to match groups (Macari et al.,
2020; Manwaring et al., 2018). While global DD impacts children across multiple
5
domains of function, ASD tends to affect verbal more than nonverbal abilities;
unsurprisingly, young children with language delays exhibit a similar profile
(Ventola et al., 2007). This pattern appears as early as 12 months of age in children
with ASD (Barbaro & Dissanayake, 2012; Macari et al., 2012) and narrows over
time for many, with overall IQ a potential factor in the magnitude of this discrep-
ancy (see Macari et al., 2020; Stenberg et al., 2020).
Well over a decade of prospective studies of infants at elevated familial like-
lihood of autism (i.e., infants with an older sibling with ASD) offer a window
into the earliest development of children with the syndrome (see Chawarska
et al., 2020) and also reveal that some infant siblings experience deficits strikingly
similar to those with ASD, even though they do not develop ASD themselves.
Distinguishing between these elevated-likelihood infants with the BAP and those
who develop autism can be remarkably difficult during the earliest stages of de-
velopment, as the overlap in behavioral presentation includes key autism symp-
toms at the first birthday (Georgiades et al., 2013; Macari et al., 2012) and into the
second and third year (Chawarska et al., 2014). The fact that elevated-likelihood
infants who do not develop autism can experience a range of autism symptoms
early in development suggests that the genetic liability to ASD is expressed vari-
ably (Chawarska et al., 2020).
Longitudinal follow-up of elevated-likelihood siblings has revealed much in-
sight about the unfolding of ASD over the first year. Delays in language, often the
first issue to trigger parental concern, include impairments in early speech such
as canonical babbling, speech-like vocalizations, and receptive and expressive lan-
guage indexed by standardized measures (see Chawarska et al., 2020). As a group,
12-month-olds later diagnosed with ASD show atypical social communication
and responsivity compared to peers, such as a smaller inventory of gestures, less
frequent social smiling, imitating, showing, requesting, responding to their own
name, and initiating joint attention with an adult social partner (Chawarska et al.,
2020). Restricted and repetitive behaviors, interests, and activities (RRBIAs), the
second core domain of ASD (DSM-5; APA, 2013) begins to appear during the
first year in infants with ASD as they do in typically developing infants. Research
has suggested that these characteristic features of ASD consist of typical behav-
iors that persist beyond the normal and expected developmental timeframe, thus
becoming atypical (Chawarska et al., 2014). Stereotyped body movements and re-
petitive actions with objects are common in all infants during the first year of life,
but when they endure with similar intensity past this age, they become less typical
(Elison et al., 2014; Loh et al., 2007). However, complexity exists in these time-
lines as well, as the various expressions of behavior do not proceed in a uniform
fashion, within either the social communication or repetitive behavior domains
(Elison et al., 2014; Ozonoff et al., 2008).
This increasing awareness of the early developmental picture in infants and
toddlers with ASD has resulted in revisions to the major diagnostic measures
(Gotham et al., 2007; Luyster et al., 2009) and the most recent diagnostic manual,
DSM-5 (APA, 2013). Although the impact of changes in diagnostic criteria from
DSM-IV to DSM-5 on the diagnosis of very young children with ASD is perhaps
6
not yet fully appreciated, several studies have shown some trends. It had long
been understood that, due to the extremely limited inclusion of infants and tod-
dlers in the field trials of DSM-IV, the diagnostic criteria developed at that time
were not entirely applicable to the youngest children (Chawarska et al., 2008).
However, the inherent flexibility of a polythetic diagnostic system was perhaps
advantageous for the diagnosis of very young children, as their symptoms are still
emerging in one area or another at the time of evaluation. Children diagnosed
under DSM-IV with PDD-NOS, which required fewer symptom criteria be met
than Autistic Disorder, might be especially at risk for not meeting criteria under
DSM-5 (Mandy et al., 2012). The main concern regarding the youngest children
with ASD is that they often do not (yet) exhibit the full set of symptoms seen in
older children. Indeed, in a small sample of children between 12 and 36 months
of age, 72% of those diagnosed with a PDD under DSM-IV did not meet ASD cri-
teria using DSM-5 (Mayes et al., 2013).
In DSM-5, changes included the removal of the age of onset criterion
(36 months); construction of two symptom domains (social interaction and com-
munication, plus restricted repetitive behavior) instead of the former triad, with
a monothetic approach to the social communication domain, requiring all three
symptom criteria to be met; specifications regarding the level of severity and im-
pairment; and an indication of whether the diagnosis is accompanied by intellec-
tual disability, language delays, any known medical or genetic conditions, or pre/
perinatal factors. Of all of these changes, the one most heavily addressed empir-
ically has been the shift from a three-domain syndrome to a two-domain syn-
drome and its implications for diagnostic inclusion of children.
One approach to comparing diagnostic models, including those upon which
DSM-IV and DSM-5 are based, examines the factor structure of symptoms.
Guthrie and colleagues (2013) tested the statistical fit of various diagnostic models
in a large group of toddlers with a clinical diagnosis of ASD between 12 and
30 months of age (mean age: 20 months). From the ADOS-2 (Autism Diagnostic
Observation Schedule-2nd edition) Toddler Module, 26 items were selected as re-
flecting the most relevant symptoms for a diagnosis. Data from the toddlers were
submitted to a series of confirmatory factor analyses, which revealed that autism
symptoms measured by this instrument were best organized into a two-factor
solution mirroring that of the DSM-5, in contrast to several other models. This is
perhaps not entirely surprising since diagnostic instruments were central in the
development of the new DSM-5 criteria (Jackson & Volkmar, 2019).
Another way to evaluate the fit of the new criteria is to apply them to the be-
havior profiles of children already clinically diagnosed with the disorder. In two
subcohorts of children under the age of 4 years who were previously diagnosed
with ASD using DSM-IV criteria, sensitivity using DSM-5 was high (0.98, 0.90).
However, specificity against other non-PDD disorders was fairly poor (0.53, 0.40)
(Huerta et al., 2012). Evidence of a DSM-5 symptom included any related ADOS
or ADI-R item with at least a score of 1, which signifies only mild impairment; this
may explain the relatively low specificity. When symptoms were required to be re-
ported by both informants, sensitivity dropped slightly, but specificity improved.
7
However, the age distribution of these cohorts was not reported, so it is unclear
how young some of these children were. While an accounting of why some chil-
dren were missed under DSM-5 (i.e., failure to meet social communication cri-
teria vs. failure to meet RRBIA criteria) was provided for the entire cohort, which
was populated mainly by older children, it was not reported for young subsets of
the sample. Thus, the possible effects of the stricter RRBIA category requirements
and the monothetic nature of the social communication category were not ad-
dressed for very young children in particular.
In young children under the age of 3 years with a mean age of 26 months,
Barton and colleagues (2013) reported that the new DSM-5 criteria were less able
to identify cases of ASD than in the previous study by Huerta and colleagues
(2012), with a sensitivity of 0.84, and with similar specificity (0.55). The authors
tested several variations of the diagnostic criteria for these youngest children. The
strategy of relaxing the repetitive behavior criteria from two of four items to one
of four items provided the best solution in terms of sensitivity/specificity tradeoff
(Barton et al., 2013). These authors discussed a fundamental issue concerning
the mapping of symptoms in toddlers onto the DSM-5 criteria, not an entirely
straightforward task. Indeed, in providing a full explication of the mapping of
specific symptoms onto the DSM-5 criteria between their own study and that of
Huerta et al. (2012), discrepancies in the mappings were revealed. If, even among
experts in the field, there is disagreement over which symptom belongs to which
category, the likelihood of clinicians and researchers adopting “idiosyncratic un-
derstanding” (Barton et al., 2013) and application of symptom mapping in tod-
dlers is high.
One perhaps unintended consequence of the new conventions for those under
the age of 3 years may involve the application of the severity specifier to very young
children. DSM-5 introduced the fourth criterion, requiring that symptoms “cause
clinically significant impairment in social, occupational, or other important areas
of current functioning” (APA, 2013, p. 50). For toddlers, the most relevant area of
functioning is in the domain of adaptive behavior. However, their level of adaptive
functioning may be somewhat more difficult to gauge than that of older children,
as the majority of their time is often spent living in environments with supportive
parents or caregivers, obviating the need to adjust or conform to other people or
environments. One study of toddlers (age 20–47 months) utilized the Vineland
Adaptive Behavior Scales-II (Sparrow et al., 2005) to determine the level of adap-
tive impairment. Indeed, while the vast majority of a group of young children (age
20–47 months) with DSM-IV-diagnosed ASD met the mild impairment threshold
on the Vineland (1 SD below the mean), a substantial proportion of toddlers did
not meet the medium or severe thresholds (Zander & Bölte, 2015). Because there
is no convention for the definition of impairment in either the DSM-5 or in the
field in general, caution in strictly applying the impairment criterion is warranted.
This is particularly true in the case of very young children who all require sup-
port from parents and caregivers, regardless of diagnosis. These studies and others
provided a reason for some concern about very young children with ASD being
adequately identified using DSM-5. The revisions to the diagnostic criteria and
8
structure are likely to impact the composition of the autism spectrum, the amount
of information included in diagnostic reports, and certainly, access to services in
the youngest children with ASD whose symptoms are still in the process of fully
emerging (McPartland & Dawson, 2014).
Autism in Adolescents and Adults

For many years autism was a disorder of early childhood onset and so for many
years was typically diagnosed during a person’s formative years. With a broad-
ening of the concept into ASD, which captures milder traits that may not be
fully apparent until adolescence and beyond, diagnoses are now often sought
into adulthood (Lai & Baron-Cohen, 2015). These individuals often have within
normal-range IQ and, as discussed subsequently, have complex mental health
backgrounds. This gives rise to several questions: First, to what extent can existing
diagnostic criteria be extrapolated to adulthood? Second, can the same diagnostic
assessments, notably the ADI-R and ADOS, be used to facilitate adult diagnosis?
And third, once diagnosed, what are the needs of this population, and specifically,
is there expertise available to meet these needs?
Adults presenting for an ASD diagnostic assessment represent a heterogeneous
group of individuals who are very different from those seen for the same assess-
ment during childhood (Huang et al., 2020; Lai & Baron-Chen, 2015). Typically,
the ASD symptoms are milder, which explains why the symptoms may have been
“missed” during childhood. Among this group are a disproportionate number
of women presenting for diagnosis, that is, compared to younger children where
male predominance is, by far, the general rule. As we discuss in the next section,
potential reasons for this include the fact that the phenotype may not be so much
milder than different among females. Adults presenting for diagnosis are also very
likely to have been seen in mental health services, and some will already have
other diagnoses.
Another complexity for adults presenting for the first diagnosis of ASD arises
because adult mental health services are typically focused on diagnosing and
treating mental illnesses that were classified as Axis 1 in the DSM-IV, such as
major depressive disorder, generalized anxiety disorder, schizophrenia, and so
forth. Childhood-onset neuropsychiatric disorders such as ASD, attention-deficit/
hyperactivity disorder (ADHD), and Tourette’s syndrome have generally fallen
outside of these services’ expertise. However, the therapeutic outcome for these
Axis 1 disorders may be poor if an underlying diagnosis of ASD is not recog-
nized and managed appropriately. Indeed, among those with co-occurring mental
health conditions, the expected outcome of full recovery may be confounded and
result in the belief that the person is “treatment resistant.” The consequence may
be polypharmacy or high-dose medication in an attempt to treat the “residual
symptoms” that are, in reality, simply part of their ASD. It is probably still true that
many mental health professionals working with adults have little training in ASD
assessment, which needs to change.
Among adults, the nature and purpose of peer relationships are very different
than in childhood, and new relationships are formed and maintained in very dif-
ferent ways. The psychology of adult behavior is not simply a projection of child
9
developmental processes onto a different stage of life. Indeed, during childhood

and early adolescence, social developmental milestones are still emerging, which
is not true among adults. Circumscribed interests and otherwise ritualistic and
routine driven patterns of behavior will manifest and function differently among
adults than children. For example, interests are a relief from the everyday stressors
of work, social, and family life. Moreover, in adulthood, some degree of adherence
to routine and predictability is important just to ensure day-to-day commitments
are managed effectively. Thus, current DSM-5 criteria (focused in many ways on
childhood forms of the disorder) may be more complicated as they are applied in
adulthood (Jackson & Volkmar, 2019; Magiati & Howlin, 2019).
Indeed, one fundamental question is, are ASDs diagnosed in adulthood and
childhood essentially different phenomena? The strongest piece of evidence in
support of this is the differences in outcome. For, while those diagnosed in child-
hood are more often than not on a positive trajectory in terms of outcome, those
diagnosed later seem to be very complex, and often have needs into middle adult-
hood and beyond. It is certainly true that these needs often pertain to complex
Axis 1 disorders. However, even those diagnosed younger have disproportionate
co-occurring mental health conditions, so this may not be the only explanation.
However, the extent to which there is truly an improvement in autism symptoms
over time among those diagnosed in early childhood is also unclear. Some symp-
toms do seem to abate over time for some. However, other outcomes are often not
measured that remain poor, including subjective wellbeing and self-esteem. There
are no data to support or refute a “two disorder” hypothesis, principally because
any argument based on the extant literature is likely confounded by tautology.
Nonetheless, investigating this possibility will be important to understand in the
future. An additional issue has to do with potential underrecognition of autism/
ASD in females—a topic we discuss subsequently.
If the diagnostic criteria do not capture symptoms in adulthood in diagnostic
terms, then neither will the existing diagnostic assessments, built as they are on
those very criteria. For example, the ADI-R has already been shown to have poor
reliability in adulthood (Fusar-Poli et al., 2017). This will, in part, be explained
by its emphasis on collecting information pertaining to early childhood that
memory may have eroded or distorted over time. However, and considering the
issues highlighted above, it may also just not be asking the right questions. In con-
trast, the ADOS module 4 is reliable, perhaps unsurprising given its face validity
(Fusar-Poli et al., 2017). For example, it does capture information concerning
wishes and aspirations and aspects of life, such as everyday relationships and em-
ployment, as well as evaluating an understanding of relationships.
Several diagnostic tools are available to facilitate diagnosis in adulthood. As
discussed above, some of these are “gold standard” diagnostic instruments devel-
oped principally for use in children, notably the ADI-R and ADOS-G. However,
others are diagnostic tools that have been developed specifically with the adult
population in mind, including the AAA (Baron-Cohen et al., 2005) and the 3Di-
Adult (Mandy et al., 2018). While a comprehensive review of diagnostic instru-
ments is out of the scope of this current chapter, some important points can be
made. Most crucially, it is generally more typical for clinicians to use diagnostic
10
interviewing rather than structured or semi-structured diagnostic assessments as

the principal method of evaluation. Indeed, this approach is consistent with the
UK’s National Institute for Health and Care Excellence (NICE) evidence-based
recommendations, which failed to show any evidence of validity or reliability
when existing measures were used as part of the diagnostic assessment in adults
(National Initiative for Autism, 2003). As such, what is important is that a team
conducts the assessment with the appropriate level of expertise in both ASD diag-
nosis and Axis 1 mental disorders.
Given the fact that the autism phenotype may be milder but the mental health
needs complex among those diagnosed in adulthood, the question then arises
about what services are needed to meet these needs. Indeed, the lack of clear path-
ways to diagnosis and postdiagnostic support have previously been raised (Huang
et al., 2020), with many offered no postdiagnostic support or therapeutic input.
Additionally, the services and support that are offered are not necessarily con-
sistent with what adults are looking for, which is often centered on occupational
support, guidance, and opportunities for social engagement (Huang et al., 2020).
Consequently, the areas of need concerning diagnosing adults with autism run
the gamut of assessment, management, and service provision. Much investment
concerning research and training will be needed to impact on this.
Gender Issues
Bearing in mind that the diagnostic criteria in use are derived from predomi-
nantly clinical descriptions of boys, the female phenotype has been incompletely
evaluated. Simply put, there is a tacit assumption that diagnostic criteria are ag-
nostic to gender. Indeed, it has been shown that compared to males, females with
ASD require more severe symptoms and greater behavioral and cognitive impair-
ments to receive the diagnosis (Dworzynski et al., 2012). Females are noted to
present with more “internalizing” symptoms than their male counterparts, who
conversely present with more “externalizing” symptoms, which will automatically
alert them to mental health services (Mandy et al., 2012). Moreover, females per-
haps resort to “camouflaging” or “pretending to be normal” more than their male
counterparts, another reason that they may present late (Bargiela et al., 2016).
Consequently, females are likely to be diagnosed later than males. Their diagnosis
has been overlooked during their childhood, and adult services will need to be
alert to the need to effectively screen and diagnose this group. We discuss this
issue in more detail subsequently.
The heterogeneity of symptoms and patterns of onset in individuals with ASD
greatly impacts the time of diagnosis and how well the usual diagnostic instru-
ments assist in the clinical judgment of a diagnosis. Gender issues have, for
society at large, more and more attention over the last years. For ASD, the long-
standing view of male predominance (particularly among the more cognitively
able) has been increasingly questioned (Becker, 2012; Constantino & Charman,
2012; Haney, 2016).
1
Over the past 20 years, findings related to sex differences in ASD have ranged
from revealing sex-specific patterns in behavior and development to reports of
minimal differences between sexes or sex differences that mirror the sex differ-
ences observed in typically developing children. The most consistent finding re-
lated to sex differences is the higher male prevalence. Fombonne (2003) reported
a prevalence ratio of 4.3:1 to 5.5:1 across studies, whereas a recent study showed
a corrected male-to-female ratio ranging between 3.1:1 and 4.3:1 (Loomes et al.,
2017). These estimates vary when controlling for IQ and have been reported to
be 5.75:1 in the normal IQ range and 1.9:1 in children with intellectual disability
(IQ < 70) (Baird et al., 2006; Kim et al., 2011). Although the causal mechanisms
of this predominantly high male-female ratio in ASD and sex differences in beha-
vior and development are widely debated and researched in the current literature,
several theories have been proposed to explain their existence. One of them is
that females need a greater symptom load to receive an ASD diagnosis (Volkmar
et al., 1993), while others have proposed that there exists a female protective effect
(Robinson et al., 2013). As highlighted in multiple studies, females with ASD have
been reported to exhibit lower levels of RRBIAs than males with ASD (Charman
et al., 2017; Frazier et al., 2013), which could be considered related to external-
izing behaviors. Males tend to score higher on indices measuring the externali-
zation of behavior problems, whereas females score higher on indices measuring
internalizing symptoms (Bolte et al., 2011; Hattier et al., 2011; Mandy et al., 2012;
Solomon et al., 2012; Szatmari et al., 2011). Lower levels of sensory issues, better
joint attention (Oien et al., 2017) and less social avoidance (Oien et al., 2018) could
be consistent with findings of better social skills (Chawarska et al., 2016), fewer
RRBIAs (Frazier et al., 2013; Mandy et al., 2012), and less disruptive behaviors
(Dworzynski et al., 2012), contributing to less pronounced ASD symptoms in fe-
males, resulting in a later age of diagnosis or a failure to meet the cutoff criteria
for a diagnosis at all. Furthermore, this finding could indicate that the presence of
impairments in language, motor development, or greater ASD symptom severity
is necessary for females to meet the cutoff on, for example, diagnostic instru-
ments. This could indicate that females with more complex language abilities and
fewer core symptoms are diagnosed significantly later than males (Lai et al., 2012;
Salomone et al., 2015).
Cultural Issues
Until recently, the vast majority of ASD studies has been conducted in Western
and highly developed countries. With the growing awareness of autism as a
worldwide phenomenon, issues of cultural differences in diagnostic expres-
sion, diagnostic practice, and intervention have emerged as an important issue.
Unfortunately, this topic has been the focus, as yet, of relatively little work (see
Freeth et al., 2014). In their excellent review, Freeth and colleagues (Freeth et al.,
2014) have noted some of the more obvious differences in ways symptoms/diag-
nostic criteria might be experienced or reported, for example, relative to things
12
like eye contact. They also point out that the vast majority of research conducted
to date has been within developed, Western cultures. Issues arise with the appli-
cation of methods developed for the screening of autism diagnosis to new cul-
tural contexts. One of the most widely used screening instruments, the M-CHAT
(Robins et al., 2001), has been translated into over 40 different languages, but evi-
dence supporting its usefulness in other cultures is somewhat mixed (Freeth et al.,
2014). Similar issues arise with the application of widely used diagnostic tools. For
example, the ADOS and ADI-R have been widely translated, but some aspects of
these instruments may be problematic both inside and outside the United States
and United Kingdom. A study evaluated the validity of the ADI-R in a U.S.-based
Latino group, with a population of 50 children and adolescents with ASD and de-
velopmental disabilities. Sensitivity and specificity of the ADI-R were moderate,
but lower than previously reported. Validity of the social reciprocity and restric-
tive and repetitive behaviors domains was high, but low in the communication
domain. Findings suggest that language discordance between caregiver and child
may influence the reporting of communication symptoms and contribute to lower
sensitivity and specificity (Vanegas et al., 2016). In one study comparing DSM-5 in
the United Kingdom and Finland, it was noted that for the broader spectrum, the
DSM-5 system worked well in the United Kingdom but not so in Finland (Mandy
et al., 2014). A handful of studies have now explored the cross-cultural usefulness
of screeners and assessment instruments (e.g., Ruta et al., 2012; Bolte, Holtmann
et al., 2008; Bolte, Poustka et al., 2008; Wakabayashi et al., 2007). Of course, issues
of diagnostic practice are only the beginning of a much broader discussion about
what variations in such practice might mean for intervention and how autism is
understood across cultures (Grinker et al., 2015).
It should also be noted that even within the United States some potential con-
cerns of cultural bias of diagnostic tests and screeners have been raised, for ex-
ample, relative to minorities and children from lower-income families (Mandell
et al., 2006; Palmer et al., 2010). In an investigation of the ADOS across racial
groups, Tek and Landa (2012) reported lower communication skills in minority
children compared to White children despite similar maternal and paternal edu-
cation level and socioeconomic status (SES). Because this was not a community-
based study, the authors considered this finding to be an artifact of a selection
bias driven by cultural differences. If, for example, parents from non-White back-
grounds interpret subtle social communication impairments as less atypical than
do White parents, or are more reluctant to seek care from a tertiary clinic and do
so only when their children have more severe symptoms, an overrepresentation of
more impaired non-White children in such clinics could arise.
Screening tools may operate differently in various minority groups. In the case
of the M-CHAT, whether or not the follow-up questions are administered appears
to play a role in the results. Although this screener is intended to be a two-stage
instrument (parent-report items plus an additional parent interview to clarify re-
sponses to items), it is often completed in the real world as a one-stage parent
questionnaire. For parents of Black children, the likelihood of a screen-positive
score on the M-CHAT was higher than for other groups, although this difference
was no longer observed after the follow-up interview was administered (Khowaja
13
et al., 2015). In contrast, a study that utilized the M-CHAT-R/F to identify screen-
positive cases from non-Hispanic White and non-Hispanic Black backgrounds
did not observe any differences by race in scores before or after the follow-up, in
individual item scores, or in the positive predictive value of M-CHAT-R/F scores
for ASD or other developmental conditions (Dai et al., 2020).
Several studies, however, have reported that parents of Hispanic toddlers com-
pleting the M-CHAT-R (either with or without the follow-up questions) were up
to twice as likely to score in the high-risk range compared to parents of either
Black or White toddlers (Kimple et al., 2014; Rea et al., 2019; Windham et al.,
2014). This suggests a greater likelihood of false positives in Hispanic children,
though the reasons behind this elevated rate are poorly understood. This phe-
nomenon may be driven by cultural variability in interpretation of questionnaire
items (Scarpa et al., 2013; Windham et al., 2014). SES appears to also play a role
in screening scores. In a pediatric population of mostly low SES families of a
range of racial/ethnic backgrounds in a rural area, there was a negative rela-
tionship between total M-CHAT scores and level of maternal education, but not
racial background (Scarpa et al., 2013). However, several item scores differed
by race and educational level. Future studies should further investigate the per-
formance of the M-CHAT and other screeners in underresourced and minority
populations.
The Problem of Co-Occurring Conditions
For many years, co-occurring conditions were overlooked in autism (Joshi et al.,
2010). It is now clear that co-occurring mental health conditions are very common
in ASD (Miot et al., 2019). There may be some clinical situations where the pres-
ence of autism (particularly the high and low ends of cognitive and adaptive
functioning) is missed because either their mental health diagnosis represented
their most significant need at that time, or because ASD was overlooked through
the process of diagnostic substitution (Newschaffer, 2006; Shattuck, 2006). This
phenomenon occurs when signs and symptoms are apportioned to an existing
diagnosis. This is likely to occur in ASD, which is known to have a high rate of co-
occurring conditions (Magiati & Howlin, 2019). Indeed, the phenotypic bound-
aries between some diagnoses are often not clear cut. By way of example, social
isolation and avoidance of contact with others may result from ASD, depression,
anxiety, or even schizophrenia. A competent clinician will be able to differen-
tiate between these by taking a detailed history. However, difficulties during social
interaction with others are also a feature of several personality disorders (PDs),
and these diagnoses typically emerge during adolescence and early adulthood.
Separating ASD from PDs will be more challenging, and the emergence of in-
terpersonal difficulties will require much more scrutiny (Lugnegård et al., 2011).
Although in nosological terms, PDs can be diagnosed in addition to ASD, doing
so requires a very detailed assessment and careful consideration of whether one
or the other of the diagnoses could fully explain symptoms and represent the most
parsimonious conclusion (Lugnegård et al., 2011).
14
SUMMARY
In this chapter, we have reviewed some of the issues that arise relative to the var-
ious “boundaries” of autism—with Asperger’s and the broader autism spectrum,
with age (in the very young and in adults), with gender and culture, and with the
presence of other conditions that may mask or “overshadow” autism, particularly
in adults. The issue of boundaries of autism and related conditions with the broad
range of normal development and behavior remains an important area for future
work (Ingersoll & Brook, 2014) as are the potential genetic contributions to these
phenotypes (Yuen et al., 2019). Issues arise concerning very young children and
adults, particularly female adults, who may be missed in the current diagnostic
system. Gender expression and cultural sensitivity remain very important topics
for future research.
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2

Versus Intellectual Disability
JAN BLACHER, BRUCE L. BAKER, AND
C H R I S T I N E T. M O O D Y ■
For decades, clinicians and educators have faced challenges in assessing, ad-
dressing, and educating children who bore the diagnoses of both autism spec-
trum disorder (ASD) and intellectual disability (ID). Parents, too, struggled with
priorities: Which should I be most concerned about, the social communication
differences associated with ASD or the delays in development that come with the
ID? However, a preceding clinical challenge is that of accurately differentiating
and diagnosing these disorders, an essential first step in informing educational
and treatment planning.
This chapter will address the issues that arise for clinicians when considering
whether a child meets criteria for ASD, ID, or both, by presenting clinical guide-
lines for assessment of these diagnoses. To set the context for this, a brief intro-
duction to ID will be provided (see Matson, 2019, for a more in depth overview
of ID). The literature documenting the implications of an ID, with or without co-
occurring ASD, on functioning in various domains will be provided as well. Next,
the impact of particular co-occurring diagnoses will be discussed, given that it is
well established that behavior/psychiatric disorders are more likely in children
and youth with ID and/or on the autism spectrum than in those with typical
cognitive development (Baker & Blacher, 2015; Einfeld et al., 2011; Emerson &
Hatton, 2007; Gjevik et al., 2011; Lake et al., 2014; Simonoff et al., 2008; Strang
et al., 2012). To achieve these goals, a case study drawing from the clinical experi-
ences of the authors will be utilized throughout the chapter in order to illustrate
some of the diagnostic, clinical, and practical issues faced across several stages of
the lifespan.
23
Autism Spectrum Disorder Versus Intellectual Disability23
INTELLECTUAL DISABILITY
Definition, Assessment, and Prevalence
ID has been long defined through two domains: (1) Intelligence, as usually as-
sessed with an IQ test below a score of 70, which is two standard deviations
below the population mean of 100, and (2) Adaptive behaviors, such that the in-
dividual presents with deficits in the skills needed to function adaptively in so-
ciety. The American Association of Intellectual and Developmental Disabilities
(AAIDD, 2010) defines ID similarly, in terms of mental capacity involving rea-
soning, planning, solving problems, thinking abstractly, comprehending complex
ideas, learning efficiently, and learning from experience. Beyond measurement
of ability, the most recent classification in the Diagnostic and Statistical Manual
of Mental Disorders (DSM-5; APA, 2013) requires the additional consideration
of the extent and type of supports needed (Boat & Wu, 2015; Patel et al., 2018).
This shift in focus on supports needed reflects a larger trend over the past century,
whereby persons with ID have become increasingly accepted and better served,
as evidenced by more tolerant terminology and enhanced integration into society
(Keith & Keith, 2020).
The most commonly used intelligence test for children is the Wechsler
Intelligence Scale for Children, currently in its fifth edition (WISC-V; Wechsler,
2014). There are preschool (WPPSI; Wechsler, 2012) and adult versions (WAIS;
Wechsler, 2008) of the Wechsler intelligence tests as well. These standardized
assessments capture intelligence through measurement of different constructs,
including verbal comprehension, visual spatial skills, fluid reasoning, working
memory, and processing speed. With respect to adaptive behavior, the Vineland
Adaptive Behavior Scales, third edition, is widely used and includes norms for
ages birth through 90 (VABS-3; Sparrow et al., 2016). Though various categorical
labels are applied based on the measure, adaptive behaviors definitionally include
Conceptual skills (e.g., language, literacy, self-direction); Social skills (e.g., inter-
personal skills, problem solving, ability to follow rules); and Practical skills (e.g.,
personal care, occupational skills, use of money and the telephone).
Therefore, in order to diagnostically rule ID in or out, it is necessary to con-
duct an assessment of both cognitive abilities and adaptive behavior. As such, at
all ages, when ASD and/or ID are being considered as part of the referral ques-
tion, diagnostic assessments should include the following components, shown in
Table 2.1. This assessment battery should be relied upon in most cases, although
if the designation of ID is definitive by standardized assessment tools, there may
be less emphasis on the clinical interview in assessing ID. However, if ASD is
suspected, a clinical interview of parent(s) is advisable for context and possible
trajectory of autism symptoms. Too, given the high rate of comorbidities of be-
havioral and mental health disorders in ASD and ID (Gillberg & Fernell, 2014), it
is often useful to incorporate assessments of these.
24
Table 2.1. Recommended components of a diagnostic assessment battery

for autism spectrum disorder (ASD) and intellectual disability (ID).
DAS-2: Differential Ability Scales, Second Edition (Elliott et al., 2018);
Leiter International Performance Scale, Third Edition (Roid et al., 2013);
ADOS-2: Autism Diagnostic Observation Schedule, Second Edition (Lord
et al., 2012); ADI-R: Autism Diagnostic Interview, Revised (Rutter et al.,
2003); SRS-2: Social Responsiveness Scale, Second Edition (Constantino &
Gruber, 2012); ABAS: Adaptive Behavior Assessment System, Third Edition
(Harrison & Oakland, 2015); CBCL: Child Behavior Checklist, YSR: Youth
Self Report, TRF: Teacher Report Form (Achenbach & Rescorla, 2001);
BASC-3: Behavior Assessment System for Children, Third Edition
(Reynolds & Kamphaus, 2015); DISC-IV: Diagnostic Interview Schedule
for Children, Fourth Edition (Shaffer et al., 2000).
Evidence Based Assessment of ASD/ID:
1. Clinical Interviewing
2. History Gathering
3. Behavioral Observations
4. Standardized Assessment of the following four domains:
a. Cognitive b. Autism c. Adaptive Skills d. Social-Emotional
Abilities Symptoms
(e.g., Weschler (e.g., ADOS-2, (e.g., VABS-3, (e.g., CBCL/YSR/TRF,
scales of intelligence ADI-R, SRS-2) ABAS-III) BASC-3, DISC-IV,
[WPPSI, WISC, Clinical Interview)
WAIS], DAS-2,
Leiter-3)
In classifying the depth of impairments in the two domains discussed above

(i.e., intelligence and adaptive behaviors), the terms Mild, Moderate, Severe, and
Profound have been used to describe the severity of ID and associated implica-
tions for the life course. While the DSM-5 (APA, 2013) moved away from IQ-
based categories, these are still prominent, both in prior years’ studies and today.
This classification is comprised of the following: (1) Mild ID, IQ range 50–69, and
representing 85% of persons with ID. As adults, these persons can often live in-
dependently, with some supports. (2) Moderate ID, IQ range of about 36–49, and
representing 10% of persons with ID. As adults, individuals with Moderate ID can
live semi-independently, at home or in a group home, with some support needed
in some daily situations. (3 and 4) Severe or Profound ID, representing 5%, re-
quire extensive lifelong support for daily activities and routines. While the intel-
lectual and adaptive functioning deficts must be apparent in the first 18 years of
life, in actuality, Moderate to Severe ID is usually identifiable in early childhood,
while Mild ID may not become apparent until the early school years. Yet another,
but less studied, group now receiving attention is those with borderline intellec-
tual functioning (BIF), which is defined by an IQ that falls between one and two
standard deviations below the mean (i.e., 71–84; Blasi et al., 2020).
25
Importantly, in clinical practice, it is common to delay formal diagnosis of ID

until approximately age 5, when the validity, reliability, and stability of standard-
ized assessments of intellectual functioning improve significantly (APA, 2013;
Bishop et al., 2003; Gottfried et al., 2009). Further, given neuroplasticity in early
childhood, comprehensive intervention in this time period has demonstrated the
powerful potential to mitigate functional impairments and developmental delays,
such that by the end of the preschool period, a diagnosis of ID may no longer
be appropriate (Guralnick, 2005, 2017; Majnemer, 1998; Peters-Scheffers et al.,
2011). Given that ID is considered to be a lifelong disorder, these findings further
support the delayed assignment of the diagnosis. Prior to age 5, when a child fails
to meet developmental milestones in multiple domains for whom the long-term
clinical severity and functional capacities are unclear, a diagnosis of global devel-
opmental delay may be utilized (APA, 2013).
ID is present in about 1% of the population in the United States, although esti-
mates range from 1% to 3% (Srivastava & Schwartz, 2014). International studies
find a range from 0.22% to 1.55% (McKenzie et al., 2016), as measures of prev-
alence are affected by multiple factors, including age, sex, socioeconomic status,
culture, and definition. For some children, ID results from an identifiable genetic
or biologically based condition, such as Down syndrome, Fragile X, or fetal al-
cohol spectrum disorder. While genetic abnormalities are reportedly higher in
individuals with ID than in ASD, it is not uncommon for the same genes to be
associated with ID and ASD (Thurm et al., 2019). Even if different specific genes
are implicated, research evidence suggests that the genes associated with these
two disorders are broadly involved in similar biological processes (Srivastava &
Schwartz, 2014).
Behavioral and Mental Health Problems

in Intellectual Disability
Across the life span, persons with ID are at much greater risk than their typi-
cally developing peers for experiencing clinically significant behavior and mental
health disorders (Baker et al., 2002; Caplan et al., 2015; Emerson, 2003; Tonge
& Einfeld, 2003). Given this, the American Academy of Child and Adolescent
Psychiatry (AACAP, 2018) has asserted that when ID is being considered, com-
prehensive evaluations must include assessment of socioemotional functioning
and evaluation for co-occurring behavioral/mental health disorders. In under-
standing this elevated risk, the AACAP commented that most children with IDs
recognize that they are behind others of their own age, which can bring frustra-
tion, anxiety, withdrawal, and/or depression. Further, individuals with ID may
not have the language skills needed to express emotions or needs, leading to mal-
adaptive manifestations of their negative emotions through problems in their be-
havior, eating, and sleeping.
Prevalence of co-occurring mental health and behavioral disorders among per-
sons with ID is difficult to summarize, as some studies focus on specific disorders
26
(e.g., attention-deficit/hyperactivity disorder, oppositional defiant disorder, de-

pression) while others consider problem areas more broadly (e.g., aggression,
sleep disturbance). The prevalence rate of specific psychological disorders in chil-
dren with ID has been reported as 20% to 35%, which is three to five times higher
than such disturbances in the general child population (Ageranioti-Belanger et al.,
2012). However, the prevalence rate of behavior problems not strictly diagnosti-
cally categorized is much higher; in an early study of children with ID, almost 50%
had a total behavior problem score in the clinical range, as compared with 18% of
children without ID (Dekker et al., 2002). While a wide range of behavior prob-
lems have been reported as co-occurring with ID, the most common comorbid
disorder is attention-deficit/hyperactivity disorder, characterized by inattention,
hyperactivity, and impulsive behaviors (Alka et al., 2013). Other common beha-
vior disorders with ID are social problems, sleep disturbances, aggression, self-
injury, and conduct problems (Ageranioti-Belanger et al., 2012; Emerson et al.,
2014). Assessments of individuals with ID should incorporate interviewing, ques-
tionnaires, observations, and standardized measures that specifically tap into
these disorders.
Of concern, in a longitudinal study of 578 children and adolescents with ID,
existence of psychopathology co-occurring with ID was both “substantial and
persistent” over a 14-year period, and mental health treatment was rare (Einfeld
et al., 2006). The limited availability of treatment for co-occurring behavioral
and mental health disorders in ID can exacerbate the childrearing challenges
for parents and cause disruption for the family. Indeed, research indicates that
these behavioral and mental health problems are likely to cause as much—or
more—distress for parents and other family members as the youth’s ID itself
(Baker et al., 2002, 2003; Blacher & Baker, 2007). This surprising finding has
been replicated and extended in other studies, showing that the behavior prob-
lems of youth with neurodevelopmental disorders exert greater influence on
parents’ stress, marital adjustment, physical health, and mental health (Baker
et al., 2003; Eisenhower et al., 2009; Neece et al., 2012; Yorke et al., 2018). Munir
(2016) summarized the evidence regarding the deleterious effects of these behav-
ioral/mental health disorders on the individual and family with two points: (1)
Co-occurring mental health disorders in children and adolescents with ID are
more predictive of major restrictions in educational and vocational participa-
tion and social inclusion than the severity of the ID; and (2) mental well-being
of parents of young people with ID is more strongly influenced by the severity
of their children’s co-occurring behavioral/mental health disorder than by the
severity of the children’s ID.
Intellectual Disability in the Family System
Though many families cope very well, there are wide-ranging effects on family
life when a child has ID, from the emotional impacts (e.g., parent mental health,
27
sibling adjustment) to practical concerns (e.g., financial challenges, navigating

service systems; Blacher & Baker, 2002). In particular, parenting a child with
ID can present unique challenges that have been associated with elevations in
parents’ stress, depression, anxiety, and sense of helplessness (Gallagher et al.,
2008; Jess et al., 2018; Kanner & Kessler, 1953; Olsson & Huang, 2001). These
findings may help to explain a growing body of research showing that among
families of children with ID, parent–child relationships are, on average, less
adaptive and more conflictual when compared to parent–child relationships in
families with neurotypical (NT) children (Gerstein & Crnic, 2016; Marquis et al.,
2017). Specifically, the literature has reported parents of children with ID to be
more controlling, intrusive, and directive, while also showing less eye contact,
being less attentive, and displaying a more limited range of emotions compared
to parents of NT children (Blacher et al., 2013; Fenning et al., 2014; Gerstein &
Crnic, 2016). In this domain, children with BIF are similarly more likely to be ex-
posed to less positive, engaging, and sensitive parenting behaviors than children
with typical development (Fenning et al., 2007). Moreover, while children with
BIF were not observed to be more problematic, their mothers perceived more ex-
ternalizing symptoms than did mothers of typically developing children. Given
these findings, observations of parent–child interactions during the assessment
and treatment planning phase for children with ID and their families could be
informative in identifying targets for intervention to improve child and family
functioning.
Despite this risk for maladjustment in the parent–child relationship, researchers
have also identified parents’ positivity and dispositional optimism as particular
protective factors. Jess and coauthors (2018) reported that positivity in mothers
of children with severe ID, age 3–18 years, moderated the impact of child beha-
vior problems, such that they experienced less stress in parenting. Another study
found that optimism in mothers of children also bolstered their ability to engage
in positive parenting behaviors (Ellingsen et al., 2013). Further, there is strong and
consistent evidence across studies that mothers higher in optimism cope much
better with adversity (Blacher et al., 2013; Blacher & Baker, 2007). In one illus-
trative study, mothers of teenagers with ID and/or on the autism spectrum with
clinical level behavior disorders who were higher in optimism reported the lowest
stress and psychological symptoms (Blacher & Baker, 2019).
Sibling relationships are another perspective from which to view the impact of
a child with ID on the family. While at one time these relationships were deemed
to be deleterious for the typically developing sibling (Farber & Kirk, 1959; Farber
& Rowitz, 1986), many recent studies indicate the opposite may true. Although
there are contradictory findings in the literature, a recent study that utilized
multimethod and multiple informants showed that the children with siblings
who had ID scored significantly higher on empathy, teaching, and closeness in
their sibling relationship, and scored lower on conflict and rivalry in their sib-
ling relationships than those with typically developing siblings (Zaidman-Zait
et al., 2020).
28
Education and Services for Intellectual Disability
Clinicians interacting with children with ID must also be aware of the complex
educational and service systems through which families access needed supports.
A thorough and accurate assessment can inform a child’s eligibility for special
education services under the Individuals with Disabilities Education Act (IDEA).
This 1975 law provides for a free and appropriate public education for children
with a wide range of disabilities, and it gives their parents, or legal guardians,
a voice in the child's education. Individuals with ID are eligible for services
through IDEA from birth through high school (or age 21, whichever comes first).
Recommendations following assessment where a diagnosis of ID was assigned
should include the provision of an individualized education plan (IEP), through
which academic and adaptive skills (e.g., communication, health and safety, social
skills, vocational skills) can be targeted with supplemental supports and services
in school. Given deficits in intellectual functioning, individuals with ID will ben-
efit from being taught skills that have been broken into small steps, using concrete
instructions, with immediate feedback and repetition.
Unfortunately, there are sometimes barriers to accessing such services, even
for those who would be eligible and would benefit. For example, as compared
to urban areas, children with a developmental disability living in rural areas are
significantly less likely to have regular access to mental health, medical, special
education, and early intervention services (Zablotsky & Black, 2020). Further,
children with BIF are likely to be underidentified for special education services,
despite evidence documenting their difficulty learning at a similar pace as their
peers and subsequent risk for school failure (Baglio et al., 2016; Blasi et al., 2020;
Karande et al., 2008). However, high-quality intervention has been shown to have
demonstrable positive effects on the IQ, social skills, and adaptive behavior in
this population (Blasi et al., 2020). In diagnostic assessment for ID, it is essential
that providers, parents, and teachers attend to BIF in order to take advantage of a
powerful opportunity to intervene and enhance outcomes for this group as well.
CONSIDERING AUTISM SPECTRUM DISORDER AND

INTELLECTUAL DISABILITY TOGETHER
Given the above introduction to ID and relevant considerations, we will now tran-
sition into discussing what is known about the presentation of ASD and ID to-
gether, as well as identifying clinical guidelines for differential diagnosis of ASD/
ID. However, this discussion must be tempered by the selectivity of autism cases
in the research literature, which has significant implications for our discussion.
Specifically, Russell and colleagues (2019) suggested the presence of a selection
bias, such that populations with ID were umderrepresented across all areas of
autism research. They analyzed 301 studies worldwide and concluded that 94%
of the participants with autism did not have ID. This figure of ID with ASD (6%)
29
contrasts markedly with the studies focused on co-occurring ASD/ID in the lit-
erature, where rates range around 25%. Russell and her colleagues point out that
generally in ASD studies, persons with co-occurring ID were “excluded or rou-
tinely under-recruited,” and thus many studies presumably from the entire autism
spectrum were “actually based on the findings drawn from predominantly non-
ID samples.”
This selection bias is a disservice to the clinical populations of autistic individ-
uals with ID. In fact, the disorder with the greatest rate of clinical co-occurrence
with ASD is ID, with estimates ranging from 25% to 33% of autistic youth also
meeting criteria for ID (Maenner et al., 2020; Matson & Shoemaker, 2009;
Saunders et al., 2015). Similarly, previous studies have consistently found that
of youth with ID, the percentage with co-occurring ASD is approximately 25%
(Arias et al., 2018; Bryson et al., 2008; CDC, 2012; Schalock et al., 2016). Thus, we
would expect about ~25% of children with either diagnosis to have both ASD and
ID. It is also important to note that the presence of other co-occurring conditions
can confound the diagnosis of ASD (Polyak et al., 2015), but these are outside the
focus of this chapter. This high rate of co-occurring diagnoses further reinforces
the need for careful differential diagnostic assessments that consider and assess
for both ASD and ID when one or the other is part of a referral question. To il-
lustrate some guidelines for diagnostic assessment of ASD and ID, we turn to our
clinical case example.
CASE STUDY
At 3 years old, Roberto was described as not being very interested in playing with
his parents or peers. His mother told the pediatrician that he has a lot more tan-
trums than the other kids and is having a hard time with toilet training. The pedi-
atrician tried to make silly faces and brought out some toy cars to show Roberto.
He showed interest in the cars, but not in the pediatrician’s funny faces; however,
even while interested, Roberto’s facial expression still seemed sad or neutral when
looking at the cars. On a developmental screener completed by Roberto’s mother
(e.g., Ages and Stages Questionnaire), he fell below the expected cutoff in all areas
(Communication, Problem-Solving, Fine Motor, Gross Motor, and Personal-
Social). Roberto’s pediatrician referred him for a complete psycho-diagnostic de-
velopmental assessment because she wanted to rule out autism spectrum disorder
(ASD) based on some of the mother’s reported behaviors.
Results of the assessment revealed that Roberto’s Full-Scale IQ, as determined
by the WPPSI-IV (Wechsler, 2012), was valid, and equated to a standard score of
65, which is more than two standard deviations below the mean. The VABS-III
(Sparrow et al., 2016) yielded an Adaptive Behavior Composite standard score
of 63, also more than two standard deviations below the mean. Per his mother’s
report, Roberto’s adaptive skills in the areas of communication, social skills, daily
living skills, and motor skills also fell in the below average range for his age.
30
To assess autism symptomatology, Roberto was administered Module 2 of the

ADOS-2 (Lord et al., 2012). Roberto did not initiate or exhibit joint attention
with the examiner when playing, and he was noted to have very little variation
in facial expressions. His requests (e.g., during snack, for toys) were overtures
of poor quality, without well-integrated eye contact, and he struggled to engage
in pretend play. His score fell in the classification range for autism. The ADOS-
2 was accompanied by a clinical interview, during which Roberto’s mom stated
that he only likes to wear a couple items of clothing—which mom has bought
multiples of. She also mentioned that he is “obsessed” with videos from a pop-
ular children’s show and will watch the same clips repeatedly, imitating what the
characters say from the show. When Roberto’s mother takes his iPad away, he
becomes dysregulated and takes a long time to recover. The lack of self-regulation
was consistent with parent report on the Child Behavior Checklist (Achenbach &
Rescorla, 2001), where Roberto’s Externalizing Behavior T-score was highly ele-
vated and in the clinical range. Furthermore, parent report on the CBCL also re-
vealed that Roberto was in the clinically elevated range for Withdrawn/Depressed
and Pervasive Developmental Problems.
Clinical Impressions
As discussed above, the diagnosis of ID is founded in two criteria: deficits in in-

tellectual and adaptive functioning. Per standardized assessments, Roberto meets
these two criteria, with standardized scores on well-established assessments.
Further, evidence that Roberto’s development is delayed across all areas, as seen
on the developmental screener, is also suggestive of ID.
Importantly however, for a child with ID to additionally meet criteria for ASD,
deficits in social communication must be beyond those that would be expected
given the ID diagnosis. Children with ID will have less well-developed social and
communicative skills than their same-age peers, which can cause difficulties in
social interactions. However, in a child with ID only, these skills will be commen-
surate with their intellectual capacity, thus following a similar trajectory of nor-
mative social communicative development, but immature for their chronological
age. For Roberto in particular, abnormalities with respect to several early social
communication skills (e.g., eye contact, joint attention, facial expression) would
not be expected for a child who has already developed phrase speech.
As discussed, young children with ID or those on the autism spectrum can also
present with emotion regulation deficits (Cai et al., 2018; Norona & Baker, 2017),
so this is not a strong diagnostic indicator on its own. However, as the clinical
interview revealed, Roberto’s dysregulation was frequently tied to specific ante-
cedents, like getting dressed, during play, and in response to limits pertaining
to screen or computer time. The additional information gained when exploring
these topics indicated that Roberto may have sensory sensitivity to certain tex-
tiles, an insistence on sameness, restricted interests, and echolalia. These char-
acteristics are diagnostically consistent with the restricted repetitive patterns of
31
Are significant intellectual and adaptive functioning deficits present?

— If so, are they pervasive across domains or specific? (more pervasive = suggestive of ID)
— Are there clear patterns in severity of deficits? (e.g., nonverbal skills > verbal skills is
common in ASD)
Do social communication deficits exceed impairment expected given level of

intellectual disability?
— Are there deficits in basic social communication skills?
— Is there developmental deviance, not just delay of normative milestones?
Is there evidence of restricted or repetitive behaviors and interests (RRBs)?

— Are RRBs better explained by developmental level?
— Does the individual display hypo-or hypersensitivity to sensory stimuli?
Are any symptoms better explained by other social-emotional processes?

— Depression, anxiety, and posttraumatic stress can all produce presentations that
may be misinterpreted as cognitive, adaptive, or social communication deficits,
as well as mistaken for RRBs.
Figure 2.1. Key questions to inform differential diagnostic decisions for autism spectrum
disorder (ASD) and intellectual disability (ID).
behavior seen in ASD. See Figure 2.1 for some key questions to consider when
differentially assessing for ASD and/or ID.
Taken together, evidence suggests that Roberto meets criteria for both ASD
and comorbid ID, given his deficits in intellectual and adaptive functioning, so-
cial communication deficits beyond what would be expected for his develop-
mental level, and the additional presence of restricted, repetitive behaviors and
interests.
The Added Impact of an Autism Spectrum Disorder

Diagnosis (ASD/ID Vs. ID Only)
In this section, we examine the impact on children and their families when the
child has co-occurring autism and ID, in comparison to children with ID only.
The weight of this evidence shows co-occurring ASD and ID having a more neg-
ative impact than ID alone, across multiple domains of child and family func-
tioning (e.g. Matson & Shoemaker, 2009; Taheri et al., 2016; Viecilli & Weiss,
2015). Tonnsen and coauthors (2016), in a sample of 2,208 children, reported
that autistic children with ID had greater symptom severity than children with ID
alone, marked by poorer psychosocial and family-related outcomes. These broad
effects are echoed in studies that have demonstrated that autistic youth with ID
have lower quality of life and are not thriving developmentally (Arias et al., 2018;
Weiss & Riosa, 2015).
32
In looking at specific outcome domains, previous literature has reported that

autistic youth with ID were more vulnerable to anxiety, mood disorders, physical
aggression, sleep problems, stereotypies, and tics than the ID only group (Bradley
et al., 2004; Farmer et al., 2015). These findings have been replicated in other
studies demonstrating that autistic youth with ID were at significantly heightened
risk across multiple measures of youth behavioral and mental health problems, as
compared to both youth with ID as well as those who were NT (Baker & Blacher,
2020). In this study, these youth scored higher on indicators of internalizing
problems, with greater anxiety-depression, withdrawal, and thought problems.
Teachers scored those on the spectrum with co-occurring ID as lower in making
friends/social acceptance by peers. Their mothers also reported lower well-being
for themselves, indicating greater anxiety and depression. Even in this relatively
small sample, when autism was diagnosed along with ID, there were multiple neg-
ative outcomes. Further, ID alone was not more problematic than the combined
diagnoses of autism and ID in any outcome measured.
Additionally, while social participation and friendships are impaired in chil-
dren with ID, these impairments appear to be even more pronounced in those on
the spectrum with co-occurring ID. Taheri et al. (2016) examined the social par-
ticipation and friendships of children and adolescents with NT, ID, or ASD/ID.
In a combined sample of 628 youth aged 3 to 19 years, a parent-completed survey
asked about the youths’ activity participation and friendships. Results showed
that autistic youth with ID reported fewer friends than both the NT and ID only
groups.
It is not unexpected to find that autistic children with co-occurring ID would
also have a greater effect on family life than ID alone. We will note two illustrative
studies. Ouyang et al. (2014) focused on parent-reported financial burden and
need to quit employment. Family financial burden was reported in 52% of fam-
ilies of autistic youth with ID versus 29% with ID only. Similarly, 46% of families
of autistic youth with ID had parents who quit their employment related to care-
giving needs versus 25% with ID only. Petalas and colleagues (2009) conducted a
within-family study focused on siblings (age 5–19 years). The siblings of autistic
children with ID had higher emotional problems (but not behavior problems)
than siblings of children with ID only.
The Added Impact of an Intellectual Disability Diagnosis

(ASD/ID Vs. ASD Only)
Here we continue to examine autistic youth with ID, but in comparison to those
youth with autism only. Overall, there is a paucity of studies comparing youth on
the spectrum with ID to those on the spectrum without ID, perhaps related to
the selection bias highlighted previously. However, available evidence seems to
suggest that there are few significant differences in the outcomes of autistic in-
dividuals based on the presence of a co-occurring ID diagnosis. This appears to
suggest that that autism elevates risk for a wide range of negative outcomes, and
3
that the addition of co-occurring ID has not usually been found to add in appre-
ciable ways to the major impacts of autism. That being said, there are some con-
tradictory findings, where there are significant differences noted between these
two groups.
Behavior problems and/or psychiatric disorders are generally not reported to
be higher in autistic youth with ID than in autistic youth without ID. Goldin et. al
(2014) conducted a study of symptoms in 219 autistic youth aged 3–16 years, with
or without ID. These researchers examined a wide range of behavior problems,
including tantrums, repetitive behaviors, worry/depression, avoidant behavior,
undereating, conduct problems, and overeating. There were no significant group
differences on any of the domains assessed. Baker and Blacher (2019) conducted
a study addressing the question of whether 13-year-old autistic youth with ID
differed from autistic youth without cognitive impairments, across a wide range
of 39 mother-or teacher-assessed positive and negative domains. Data were gath-
ered through standardized parent and teacher questionnaires, parent interviews,
and observation. The finding was clear: Autistic youth with ID did not differ sig-
nificantly from autistic youth without ID on any variable. Domains assessed in-
cluded behavior problems, psychiatric diagnoses, social skills, social acceptance,
and student teacher relationships. Both diagnostic groups, however, differed from
NT children in multiple domains.
While behavior problems and/or psychiatric disorders are generally not higher
in autistic youth with ID than autistic youth without ID, there are exceptions
that beg further study. Totsika and colleagues (2011) reported that the preva-
lence of aggressive behavior was higher among autistic individuals with ID when
compared with autistic individuals without ID. Conversely, two studies have re-
ported a higher incidence of depression in autistic youth and young adults and
no cognitive impairments, as compared to those on the spectrum with ID (Fung
et al., 2015; Rai et al., 2018). One of these studies was quite large, including 4,073
persons (1,146 with co-occurring ASD/ID and 2,927 with ASD only). In autistic
people without ID, 19.8% reported elevated depressive symptoms, compared
with only 6% of those with ID. It is plausible that this finding may be unique
to depression. The authors noted that “those with greater cognitive ability and
thus insights into being different may be more prone to depression.” They also
considered that depression in persons with ID may be missed, due to diagnostic
overshadowing (clinicians missing depressive symptoms or misattributing it to
the ID) or to persons with ID having less advanced verbal skills to express their
difficulties.
From the perspective of family adaptability to disability, a study by Baker and
colleagues (2011) is relevant to the ASD/ID versus ASD comparison. These au-
thors examined whether family-level adaptability promoted beneficial outcomes
for families of autistic adolescents over a 3-year period. Family-level adaptability
predicted positive change in both maternal depression and child behavior prob-
lems over this study period, above and beyond the contribution of the dyadic
mother–youth relationship. Co-occurring ID was present in 56% of these youth.
Yet the relationship between higher family adaptability and decreased youth
34
behavior problems was independent of ID status. That is, the beneficial effects of
family adaptability did not differ between ASD/ID and ASD only families.
The impact on family finances and employment was also found to be greater
for families of autistic children with co-occurring ID, as compared to autistic chil-
dren without ID (Saunders et al., 2015). This echoes the previous finding that
these financial burdens were greater in ASD/ID as compared to ID only as well.
Interestingly, no differences were found between caregivers of children with sin-
gular diagnoses of autism or ID only. In this domain, it may be that the presence
of a dual diagnosis is always more impactful, given the need to pursue more inten-
sive or different types of services as a result.
Of note, from a developmental neuroscience perspective, Vivanti et al. (2013)
have hypothesized that the presence or absence of ID is a critical factor affecting
symptom severity in autistic individuals. They argue that rather than a co-occurring
condition (unrelated to etiology and causality from the ASD), ID in individuals
on the autism spectrum may be conceptualized as an emergent “consequence of
severe social-communication deficits on the experience-dependent mechanisms
underlying neurocognitive development.” From each of two independent samples
of autistic young children, they found that the risk of co-occurring ID increased
as the number and severity of ASD social-communicative impairments increased.
This finding is consistent with other reports that when ASD and ID coexist, au-
tism symptoms are more severe than in children on the autism spectrum without
cognitive impairments.
Looking Ahead: Autism Spectrum Disorder and/

or Intellectual Disability During the Transition
to Young Adulthood
Before concluding, we will reinforce the concepts discussed in this chapter

through revisiting the case study in young adulthood. Roberto had participated in
a transition program through the public-school district from the ages of 18 to 21
that was focused on enhancing his job skills and independence. With the support
of that high school program, Roberto learned how to take the bus largely inde-
pendently, though his mother would often ride with him the first few times on a
new route to make sure he knew the bus number, route, and where to go. Roberto
still displayed instances of impaired social judgment, as demonstrated by mother’s
report of his difficulties understanding the social conventions of how to ask to
sit next to someone, smile politely, or respond to small talk on the bus. Roberto’s
mother reported worrying most about Roberto being taken advantage of; for ex-
ample, she thinks he’d be easily influenced to give someone money or open a store
credit card if asked. Roberto continued to struggle with behavioral outbursts, but
these outbursts are less frequent as he has learned self-regulation strategies such
as counting and calming breathing.
After Roberto exited from the public high school system at age 21, his family
also found a program through a local community college where Roberto is able
35
to take a reduced course load in a supported program, which provided indi-

vidualized tutoring and executive functioning supports (e.g., how to set alarms,
making to-do lists, prioritizing steps). Outside of school, Roberto spends several
hours every day drawing anime, watching anime shows, and chatting online to
others about anime. For the last few years, Roberto has volunteered at local anime
conventions doing structured tasks (e.g., helping with registration, set-up, and
distributing lunch). He has loved it, but it is event-based and limited in hours.
Roberto’s mother helped to coordinate his volunteering and expressed hopes that
it could lead to a paid job at some point.
Roberto has continued to live at home, where he is described by his family
as having flat affect and intonation in social conversations. The amount of time
he spends on activities related to anime suggests a highly fixated interest; fur-
ther, much of his independently driven social engagement is focused on anime,
in chats online. When asked, Roberto expressed wishing he had more friends. His
mom shared that she used to organize get-togethers for Roberto in high school
with a few classmates in his special education class, but she’s trying to step back
so Roberto can initiate these activities. Roberto is also interested in having a girl-
friend, but his attempts are either too forward or misinterpreted.
A common feature of young adults with ID and/or on the autism spectrum is
diminished social support networks, especially with respect to friendships (van
Asselt-Goverts et al., 2015). However, although young adults with either diagnosis
may have difficulties navigating social nuances in public spaces, there are some
potential distinctive factors to consider in this case study. Roberto’s mother’s con-
cerns about money suggests that he may be characterized as “naïve” or “gullible,”
a feature that is most closely associated with the diagnosis of ID (Greenspan et al.,
2011). However, the concerns about Roberto’s social behavior point to differences
in social approach, initiation, nonverbal communication (e.g., smiling), reci-
procity, and ability to switch social behavior based on context (e.g., just meeting
someone vs. knowing them for a long time). These concerns are more representa-
tive of the social communication differences seen in autism, which are very likely
to persist into adulthood.
DIAGNOSTIC CONUNDRA: CONCLUDING COMMENTS
Further research is needed to form a conclusive understanding of how the

strengths, challenges, and support needs of autistic individuals differ across the
full range of cognitive abilities. This understudied area could benefit too from an
expanded examination, beyond clinical outcomes, into potential neurocognitive
profiles. Such information would not only have implications for treatment, but it
also could be informative in differential diagnosis.
One of the dilemmas facing professionals diagnosing ASD and/or ID is deter-
mining primary diagnosis and immediate treatment. There is often a rush to indi-
cate ASD, because of the increasing awareness and prevalence of the disorder, and
the importance of beginning early behavioral treatment. However, knowledge
36
about the co-occurrence of ID is more than an academic exercise. It is crucial

information for early interventionists and school-based educators and can help
determine the match between content and curricular materials. For example, in-
tensive early intervention programs have been shown to result in increases of IQ
into the typical range in almost half of children with ASD (e.g., Lovaas, 1987). In
cases of autism with co-occurring ID, intervention can vastly improve adaptive
skills and increase cognitive development, but not likely into the typically devel-
oping range.
As autistic youth are likely to be in different school placements dependent on
intellectual functioning, it seems valuable to clinicians and educators to have a
better understanding of whether, and if so, how the two groups differ, beyond
intelligence and related academic abilities. This chapter suggests that, given the
similarity in behavior problems and social skills, the same general interventions
may be effective for autistic youth with or without ID. However, there are remark-
ably few readily accessible, evidence-based treatments for emotional, behavioral,
and social problems in either ASD or ID populations. This is an area in desperate
need of further study, given the distress these problems cause for families. As de-
velopment and testing of effectiveness occurs, it will be essential to test how treat-
ment response is or is not linked with IQ, and whether traditional mental health
intervention methods that require abstract thinking (e.g., cognitive behavioral
therapy) can be adapted to successfully treat those with ID. Additional questions
remain about treatment planning based on these diagnostic presentations; for ex-
ample, what is to be gained by differential placement into programs for autistic
preschoolers who are also diagnosed with ID? How or should long-range goals
for autistic youth with co-occurring ID differ from the population of youth with
ID, or autism, alone?
Although there are areas that are still unclear in this field, there is also clarity.
For example, in addition to interventions to improve core features of ASD and/or
ID (e.g., social communication, intellectual functioning, adaptive skills), research
would suggest that when concluding a diagnostic assessment in which ASD and/
or ID was diagnosed, it would be important to consider the following in recom-
mendations: (1) prioritization of treatment of any behavioral or mental health
problems that are part of the clinical presentation, given the significant impact on
individual and family functioning, (2) incorporation of recommendations related
to parenting interventions, to both reduce parenting stress and negative parent–
child interactions, (3) initiation of process to request an IEP or to discuss how
accommodations in workplaces may be beneficial, and (4) referrals to supportive
resources to mitigate the negative impact on parents’ productivity.
ACKNOWLEDGMENTS
The authors acknowledge funding from the NICHD (R01HD034879, B. L. Baker,

J. Blacher, and K. Crnic, PIs) that supported much of the work cited herein.
37
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4
Autism Spectrum Disorder Versus

Communication Disorders
R H E A PA U L ■
Much like autism spectrum disorder (ASD), developmental communication

disorders (CDs) constitute significant, persistent deficits in the ability to en-
gage effectively in social interaction, in this case through the use of language.
The Diagnostic and Statistical Manual of Mental Disorders (DSM-5; American
Psychiatric Association, 2013) criteria for these disorders recognize four sub-
types of CD:
• Language disorder: “persistent difficulties in the acquisition and use of

language across modalities (i.e., spoken, written, sign language, or other)
due to deficits in comprehension or production.” (See Box 3.1.)
• Social (pragmatic) communication disorder: This new diagnosis for DSM
cites “persistent difficulties in the social use of verbal and nonverbal
communication.” (See Box 3.2.)
• Speech sound disorder: persistent difficulty with articulation that limits
speech intelligibility or prevents verbal communication.
• Childhood-onset fluency disorder (stuttering): disturbances in the normal
flow and timing of speech, which may include anxiety about speaking
and secondary behaviors such as facial groping or grimacing.
The latter two CD subtypes are rarely confused with ASD. It is possible for
ASD to co-occur with speech sound disorder and/or stuttering, but these co-
occurrences are relatively infrequent, and unlikely to result in diagnostic un-
certainly, since they do not overlap with the core symptoms of ASD. When they
are both present in the same individual, they would be listed as co-occurring
diagnoses.
DSM-5 identifies two core symptom clusters for ASD (see Box 3.3 for details):
45
Autism Spectrum Disorder Versus Communication Disorders45
Box 3.1
Language Disorder (DSM-5)
Diagnostic Criteria 315.32 (F80.2)
A. Persistent difficulties in the acquisition and use of language across

modalities (i.e., spoken, written, sign language, or other) due to deficits in
comprehension or production that include the following:
1. Reduced vocabulary (word knowledge and use).
2. Limited sentence structure (ability to put words and word endings
together to form sentences based on the rules of grammar and
morphology).
3. Impairments in discourse (ability to use vocabulary and connect
sentences to explain or describe a topic or series of events or have a
conversation).
B. Language abilities are substantially and quantifiably below those expected
for age, resulting in functional limitations in effective communication,
social participation, academic achievement, or occupational performance,
individually or in any combination.
C. Onset of symptoms is in the early developmental period.
D. The difficulties are not attributable to hearing or other sensory
impairments, motor dysfunction, or another medical or neurological
condition and are not better explained by intellectual disability (intellectual
developmental disorder) or global developmental delay.
Source: Reprinted from the Diagnostic and Statistical Manual of Mental Disorders, fifth edition
(Copyright 2013). American Psychiatric Association.

• Persistent deficits in social communication and social interaction across

multiple contexts
• Restricted, repetitive patterns of behavior, interests, or activities
Diagnostic issues do arise in differentiating ASD from the first two CDs
listed above:
1. Language disorders in children, referred to as developmental language

disorder (DLD)
2. Social pragmatic communication disorder (SPCD)
The source of confusion stems from the fact that one of the core symptoms of ASD,
“deficits in social communication and social interaction,” is primarily mediated by
language. When a child is unable to engage successfully in social communica-
tion to support interpersonal interaction, it may be difficult to discern whether
46
Box 3.2
Social Pragmatic Communication Disorder (DSM-5)
A. Persistent difficulties in the social use of verbal and nonverbal

communication as manifested by all of the following:
1. Deficits in using communication for social purposes, such as greeting
and sharing information, in a manner that is appropriate for the social
context.
2. Impairment of the ability to change communication to match context
or the needs of the listener, such as speaking differently in a classroom
than on a playground, talking differently to a child than to an adult, and
avoiding use of overly formal language.
3. Difficulties following rules for conversation and storytelling, such as
taking turns in conversation, rephrasing when misunderstood, and
knowing how to use verbal and nonverbal signals to regulate interaction.
4. Difficulties understanding what is not explicitly stated (e.g., making
inferences) and nonliteral or ambiguous language (e.g., idioms,
humor, metaphors, multiple meanings that depend on the context for
interpretation).
B. The deficits result in functional limitations in effective communication,
social participation, social relationships, academic achievement, or
occupational performance, individually or in combination.
C. The onset of symptoms is in the early developmental period (but deficits
may not become fully manifest until social communication demands
exceed limited capacities).
D. The symptoms are not attributable to another medical or neurological
condition or to low abilities in the domains of word structure and
grammar, and are not better explained by autism spectrum disorder,
intellectual disability (intellectual developmental disorder), global
developmental delay, or another mental disorder.

the problems arise from specific limitations in the use of language to accomplish
these functions or from nonlinguistic autistic symptomatology. Research dating
back to the 1970s (e.g., Bartak et al., 1977; Boucher, 1976; Churchill, 1972; Rutter,
1978) highlights the similarities that can be found between children with DLD
and those with ASD. A large literature has accumulated to delineate these simi-
larities and differences. Bartak et al. (1977) reported, for example, that boys with
ASD and those with DLD showed similar levels of nonverbal cognitive skills, as
47
Box 3.3
Diagnostic Criteria for Autism Spectrum Disorders (DSM-5)
A. Persistent deficits in social communication and social interaction across

multiple contexts, as manifested by the following, currently or by history:
1. Deficits in social-emotional reciprocity, ranging, for example, from
abnormal social approach and failure of normal back-and-forth
conversation; to reduced sharing of interests, emotions, or affect; to
failure to initiate or respond to social interactions.
2. Deficits in nonverbal communicative behaviors used for social
interaction, ranging, for example, from poorly integrated verbal and
nonverbal communication; to abnormalities in eye contact and body
language or deficits in understanding and use of gestures; to a total lack
of facial expressions and nonverbal communication.
3. Deficits in developing, maintaining, and understanding relationships,
ranging, for example, from difficulties adjusting behavior to suit various
social contexts; to difficulties in sharing imaginative play or in making
friends; to absence of interest in peers.
B. Restricted, repetitive patterns of behavior, interests, or activities, as
manifested by at least two of the following, currently or by history:
1. Stereotyped or repetitive motor movements, use of objects, or speech
(e.g., simple motor stereotypies, lining up toys or flipping objects,
echolalia, idiosyncratic phrases).
2. Insistence on sameness, inflexible adherence to routines, or ritualized
patterns or verbal nonverbal behavior (e.g., extreme distress at small
changes, difficulties with transitions, rigid thinking patterns, greeting
rituals, need to take same route or eat food every day).
3. Highly restricted, fixated interests that are abnormal in intensity or
focus (e.g., strong attachment to or preoccupation with unusual objects,
excessively circumscribed or perseverative interest).
4. Hyper-or hyporeactivity to sensory input or unusual interests in
sensory aspects of the environment (e.g., apparent indifference to pain/
temperature, adverse response to specific sounds or textures, excessive
smelling or touching of objects, visual fascination with lights or
movement).
C. Symptoms must be present in the early developmental period (but may not
become fully manifest until social demands exceed limited capacities or
may be masked by learned strategies in later life).
D. Symptoms cause clinically significant impairment in social, occupational,
or other important areas of current functioning.
E. These disturbances are not better explained by intellectual disability
(intellectual developmental disorder) or global developmental delay.
48
Box 3.3 Continued

Intellectual disability and autism spectrum disorder frequently co-occur;
to make comorbid diagnoses of autism spectrum disorder and intellectual
disability, social communication should be below that expected for general
developmental level.

well as comparable levels of syntactic development. Strikingly, though, boys with

ASD had more severe receptive language deficits than peers with DLD; more de-
viant language behaviors such as echolalia; more difficulties in nonverbal com-
munication, such as gesture; and more impaired skills in following the rules for
appropriate social use of language, or pragmatics.
DIFFERENTIATING AUTISM SPECTRUM DISORDER FROM

DEVELOPMENTAL LANGUAGE DISORDER
Tager-Flusberg (1981) was the first to characterize the general pattern of language
strengths and weaknesses seen in children with ASD. She reported that phono-
logical (speech sound articulation), syntactic (sentence structure, grammar), and
morphological (word endings) development were similar to, though somewhat
slower than typical. Language deficits in ASD centered on the areas of seman-
tics (expressing meaning through words and word combinations) and pragmatics
(using language appropriately for conversation and social interaction). Research
in the subsequent decades has identified pragmatic deficits as the primary area of
communication difficulty in children with ASD (e.g., Baron-Cohen, 1988; Kim
et al., 2014; Loveland et al., 1988; Rapin & Dunn, 1997; Volden, 2017). Thus, a ge-
neral distinction between communication skills in children with DLD and those
with ASD can be seen in:
• Comparing receptive and expressive language skills. Although there

may be deficits in both expressive and receptive domains in both groups,
children with DLD usually show receptive language skills that are
stronger than their expressive skills. Children with ASD do not usually
show this pattern. Both expressive and receptive skills in ASD may be
on par, or expressive skills may exceed receptive scores on standard tests
(Paul & Weismer, 2014; Weismer et al., 2010).
• A relative sparing of syntax, morphology, and phonology in ASD
(e.g., Eigsti et al., 2011; Riches et al., 2010). Although all aspects
of communication may be impaired, the greatest deficit is seen in
pragmatics, in which performance is markedly lower than other aspects
of language. For children with DLD, this pattern is reversed (Leonard
49
et al., 1999; Moyle et al., 2011; Shriberg et al., 1999). Pragmatic skills may
or may not be affected, but syntax, morphology, and phonology are more
significantly impaired.
• Reduced use of gestures and other nonverbal forms of communication
in ASD (LeBarton & Iverson, 2016; Morett et al., 2016) with the relative
preservation of these nonlinguistic behaviors in DLD (Iverson &
Braddock, 2011; Landry & Loveland, 1988).
Thus, differential diagnosis of ASD and DLD includes identifying pragmatic lan-
guage behavior as significantly more impaired than other aspects of communi-
cation to support a diagnosis of ASD. Pragmatic behaviors include the spoken
language used in conversation, as well as nonverbal aspects of communication.
Nonverbal communication behaviors, such as delayed and sparse use of gestures
and expression of communicative intent that is infrequent and limited to making
requests rather than engaging in sharing of attention and interests, are especially
important to observe in young children who are not yet speaking. For children
who speak, pragmatic deficits are often manifest as use of echolalia or use of
“scripted” repetitive, memorized language without apparent intent to communi-
cate, perseveration on favored topics of conversation without regard to listener
needs or interests, and overly literal responses and interpretations in conversa-
tion (e.g., Adult: “Do your shoes rub up and down when you walk?” Child with
ASD: “No, they rub down and up.”). Secondarily, the relationship between ex-
pressive and receptive language scores may be examined, to determine whether,
as is usually the case in DLD, receptive scores are higher than expressive. If this
is not the case, ASD is the more likely diagnosis. For children who are minimally
verbal, lack of use of gestures such as pointing, limited eye-to-eye gaze during
interaction, and limited initiation of joint attention to shared objects and activi-
ties during interpersonal communication suggests a diagnosis of ASD rather than
DLD. Behaviors such as sparse use of gestures or use of nonconventional gestures,
such as pulling an adult’s hand to get something without looking at the adult’s
face, limitation of attempts to communicate only to requesting things, and not
sharing gaze to objects and activities with a communication partner, are also sug-
gestive of a diagnosis of ASD (see Figure 3.1).
DIFFERENTIATING AUTISM SPECTRUM DISORDER,

DEVELOPMENTAL LANGUAGE DISORDER, AND SOCIAL
PRAGMATIC COMMUNICATION DISORDER
It is important to clarify that ASD and SPCD cannot be ascribed as co-occurring

disorders, according to DSM-5. If one of these diagnoses is conferred, the other
is ruled out. The same is not true for ASD/DLD or DLD/SPCD co-occurrences.
These pairs of diagnoses can be conferred simultaneously. Children with ASD
may have DLD if their language form is significantly impacted along with the so-
cial communication and repetitive and restricted behaviors and interests (RRBIs),
50
which are core symptoms of ASD. Similarly, children with DLD may also receive
a co-occurring diagnosis of SPCD if social communication is equally or more im-
pacted than language form and no RRBIs are present.
Despite a strong consensus in the literature on points of differential diagnosis
between DLD and ASD, the picture has been complicated by a long-standing
debate about the specificity and validity of a diagnosis variously referred to as
semantic-pragmatic disorder (Adams & Bishop, 1989; Coulter, 1998; Rapin, 1983;
Rapin & Allen, 1998), pragmatic language impairment (e.g., Bishop, 2014; Botting
& Conti-Ramsden, 1999; Ketelaars et al., 2010), and more recently as social com-
munication disorder (e.g., Gibson et al., 2013; Lockton et al., 2016). DSM-5 now
classifies this disorder construct as SPCD (see Box 3.2). Semantic-pragmatic
disorder and pragmatic language impairment were described by their early pro-
ponents to include high levels of talkativeness, poor vocabulary, limited under-
standing of conversations, and atypical conversational behavior with relatively
preserved (though not necessarily age-appropriate) phonological and syntactic
production (e.g., Bishop & Norbury, 2002; Rapin & Allen, 1983).
Whether these disorders now subsumed by DSM-5’s SPCD diagnosis constitute
a distinct syndrome or are, in fact, part of the autism spectrum has been and is
still debated in the literature (e.g., Bishop, 1989, 2014; Bishop & Norbury, 2002;
Brook & Bowler, 1992; Brukner-Wertman et al., 2016; Flax et al., 2019; Gagnon
et al., 1997; Mandy et al., 2017; Norbury, 2014; Perkins, 2005; Reisinger et al.,
2011) with no definitive consensus emerging. Nonetheless, DSM-5 found evi-
dence from field trials suggesting that a decrease in DSM-IV ASD diagnoses was
accounted for by increases in the DSM-5 SPCD category. This led to the deci-
sion to differentiate disorders of social-pragmatic communication from ASD and
DLD, creating a unique category labeled SPCD, a term not in common use among
clinicians. The addition of this new disorder, with very little empirical data on
sensitivity/specificity of assessment instruments (or even on the existence of valid
tools), prevalence, natural history, or diagnostic reliability and validity, has added
a layer of confusion to the diagnostic process in disorders of communication and
social interaction (e.g., Norbury, 2014; Swineford et al., 2014).
Four basic issues arise in making a differential diagnoses among DLD, SPCD,
and ASD:
1. Most studies of SPCD have included only children who use speech as
their primary means of communication. But children with both DLD
and ASD can be profoundly impaired in the development of spoken
language. These minimally verbal children can present diagnostic
dilemmas, especially in their early years. SPCD, however, due to its
criteria relating to spoken language, can only be diagnosed in children
who use spoken language at a full-sentence level, limiting the conferral
of this diagnosis essentially to school-aged children (Swineford
et al., 2014).
2. The constellation of deficits in communication and social interaction,
and the balance among them, is known to change with development, at
51
least in DLD and ASD, although no longitudinal studies exist to trace

the symptom trajectory of SPCD (Swineford et al., 2014). Children
with early delays in vocabulary and sentence structure frequently move
into the normal range by early school age, and these early lags are
often replaced by more subtle difficulties in complex language, verbal
reasoning, pragmatics, and phonological awareness, a key component
in the development of reading and spelling (see Alonzo et al., 2020, for
review). Diagnostic schemes must take these developmental changes into
account.
3. Many children with ASD have co-occurring DLD (Tager-Flusberg
et al., 2003, 2017). Thus, DLD should not be “ruled out” in making a
diagnosis of ASD, but must be considered, if present, as a co-occurring
disorder (Bishop et al., 2016). The potential co-occurring relationships
between DLD and SPCD have not been explored in the research and are,
therefore, unclear and unspecified in DSM-5.
Thus, before it is possible to describe a differential diagnostic scheme for this

cluster of syndromes, it is necessary to examine the implications of these issues.
Communication level and differential diagnosis. The relationship between cur-
rent level of communicative function and diagnosis must be considered in dif-
ferentiating among these conditions. For children over 5 years of age who are
speaking in full sentences, current conceptions of the three diagnostic categories
can be outlined as seen in Table 3.1.
Differential diagnosis for school-aged children would follow guidelines such as:
ASD: Language comprehension, pragmatics and nonverbal communication

are impacted. Expressive language form (syntax, morphology,
phonology) may be affected, but deficits are less significant in this
area than the others. DLD may be co-occurring, if child meets
diagnostic criteria (i.e., significant deficits in syntax, morphology,
phonology) for both.
DLD: Language form is primarily affected. Receptive skills, pragmatics,
and nonverbal communication may be affected but are less severely
impaired than is expression of syntax, morphology, and phonology.
SPCD: Pragmatics are primarily affected, but less severely and
pervasively than in ASD, with fewer obvious deficits in nonverbal
communication. Language form and receptive language may be
affected but are relatively spared in relation to pragmatics. Note
that, because of the need to have sentence-level spoken language in
order to make this diagnosis, it is difficult to identify it in children
with preverbal, single word, or simple phrase speech (i.e., in
developmental levels below 5 years).
Of course, language symptoms are not the only ones available for making diag-
noses. Although language characteristics form the core symptom in DLD and
52
Table 3.1 Differential Diagnosis Among Autism Spectrum Disorder, Developmental Language Disorder, and Social Pragmatic
Communication Disorder in Children With Sentence-Level Spoken Language
Language Form Language Mode Pragmatics Nonverbal Symptoms

(syntax, morphology, (expression, (conversational and Communication Apart From
phonology) comprehension) narrative skills, use of (gestures, gaze, Communication
nonliteral language, communicative
adjusting to listeners’ intent)
needs, status)
Autism Spectrum Relatively spared Comprehension Most significant Significantly affected Restricted and
Disorder is more impacted, deficits repetitive behaviors
although it may and interests (RRBIs),
still be better than including echolalia
production and scripted speech
Developmental Most significant Comprehension May be affected, but May be mildly Risk for reading/
Language Disorder deficits may be affected, but spared relative to form affected, but spared spelling disorders;
spared relative to relative to language no RRBIs
production form
Social Pragmatic Spared relative to Little data Language form may Little data Little data;
Communication pragmatics be affected but is no RRBIs (by DSM-5
Disorder spared relative to definition)
pragmatics
53
SPCD, there is a second core symptom in ASD, according to DSM-5 criteria: the
presence of restricted and repetitive behaviors and interests, including stereotypic
movements, sensory hyper-and hyposensitivities, perseverative interest in topics
or objects, rigidity and insistence on sameness, echolalia, and the use of scripted,
memorized language with limited communicative intent. It is important to note,
here, that DSM-5 includes several symptoms that are manifested in speech within
the RRBI symptom cluster, including echolalia and scripted language. This deci-
sion means that children who show these speech behavior patterns would qualify
for a diagnosis of ASD, even if no other evidence of RRBIs were present. Thus, it is
essential for differential diagnosis that clinicians consider echolalia and scripting
as evidence of ASD and a rule-out for SPCD, even when other RRBIs such as ster-
eotypic movements or sensory abnormalities are absent.
To put it most simply, for school-aged children who speak, DLD is diagnosed
when symptoms are primarily in the area of language form with other areas of
communication relatively spared and no RRBIs, echolalia, or scripted language.
ASD is diagnosed when communication symptoms are primarily in the areas of
pragmatics and nonverbal communication, and RRBIs, including echolalia or
scripted language, are present. SPCD is diagnosed when school-aged children
have primary deficits in spoken pragmatics, with relative sparing of language
form, but no RRBIs, echolalia, or scripted language is displayed (see Figure 3.1).
Although clinical observation and judgement will always play a role in any di-
agnostic endeavor, and despite the relative dearth of norm-referenced standard-
ized measures (Yuan & Dollaghan, 2018) in the assessment of pragmatics, there
are measures developed to assess each of the critical areas of language (syntax/
morphology, semantics, phonology, pragmatics) for school-aged children. Table
3.2 gives examples of the tests often used by speech-language pathologists to es-
tablish the patterns of language behavior we need to observe in order to make
differential diagnoses among DLD, ASD, and SPCD in school-aged children.
Differential diagnosis in young children. Table 3.1 suggests a differential diag-
nostic scheme among ASD, DLD, and SPCD for children with fluent, sentence-
level language production, generally those 5 years of age or older. But in recent
years, children with social and communication disorders have presented for diag-
nosis long before their fifth birthday. Current diagnostic practice for ASD aims to
identify children at 18–24 months of age or earlier, in order to maximize oppor-
tunities for early intervention (Zwaigenbaum et al., 2015), before most of them
are speaking at all, let alone in full sentences. Parents often begin to feel concern
at these ages when they notice that their baby is less socially inclined and aware
than age-mates; when she or he fails to respond to name or begin to attempt a few
words; when the baby shows little interest in pointing, waving “bye-bye,” or other
social gestures, or in sharing interactive games and toys with others (Chawarska
et al., 2014). Recent media campaigns have highlighted these early signs,
increasing public awareness of “red flags” for autism, and studies have reported
high levels of diagnostic stability for ASD in toddlers (Chawarska et al., 2009;
Kleinman et al., 2008; Ozonoff et al., 2015). Moreover, in recent research on recur-
rence risk within families with a child who has ASD, increased risk for younger
54
Table 3.2 Standardized Measures Used to Establish Patterns of Language

Behavior in School-Aged Children
Test Age/Grade Levels Area(s) Assessed

Boehm Test of Basic Concepts— Kindergarten– Receptive vocabulary
Third Edition (Boehm-3) (Boehm, second grade
A. E. [2000]. San Antonio,
TX: Psychological Corporation)
Children’s Communication 4–16 years Syntax, pragmatics;
Checklist—Second Edition (CCC-2) provides standardized
(Bishop, C. [2003]. San Antonio, comparison between the
TX: Pearson) two
Clinical Evaluation of Language 5–21 years Separate subtests for
Fundamentals—Fifth Edition semantics, syntax;
(CELF-5) (Semel, E., Wiig E. H., separate receptive and
& Secord, W. [2013]. San Antonio, expressive composites;
TX: Pearson) nonstandardized
pragmatics checklist
Comprehensive Assessment of Spoken 4–21 years Separate lexical/semantic,
Language (CASL) (Carrow-Woolfolk, syntactic, and pragmatic
E. [1999]. Circle Pines, IL: American subtests
Guidance Services)
Diagnostic Evaluation of Language 4–12 years Separate subtests for
Variation (DELV-Norm Referenced) syntax, semantics,
(Seymour, H. N., Roeper, T. W., & pragmatics, and
de Villiers, J. [2005]. San Antonio, phonology
TX: Pearson)
Expressive One-Word Picture 2–80 years Expressive vocabulary
Vocabulary Test—Fourth Edition
(EOWPVT-4) (Brownell, R., (Ed.)
[2010]. Novato, CA: Academic
Therapy Publications)
Peabody Picture Vocabulary Test- 2.5–90 years Receptive vocabulary
4 (PPVT-4) (Dunn, L. M., &
Dunn, D. M. [2007]. Minneapolis,
MN: Pearson)
Pragmatic Language Skills Inventory 5–13 years Pragmatic language
(PLSI) (Gilliam, J. A., & Miller, skills, including
L. [2006]. Austin, TX: Pro-Ed) personal interaction,
social interaction, and
classroom interaction
skills
5
Table 3.2 Continued
Test Age/Grade Levels Area(s) Assessed

Receptive One-Word Picture 2–80 years Receptive vocabulary
Vocabulary Test—Fourth Edition
(ROWPVT-4) (Brownell, R. (Ed.)
[2010]. Novato, CA: Academic
Therapy Publications)
Rice/Wexler Test of Early 3–8 years Morphemes and syntactic
Grammatical Impairment (Rice, structures that children
M.L., & Wexler, K. [2001]. San with developmental
Antonio, TX: Pearson) language disorder
characteristically lack
Social Language Development Test- 6–11 years Pragmatics, including
Elementary (Bowers, L., Huisingh, language-based social
R., & LoGiudice, C. [2008]. East interaction skills and
Moline, IL: LinguiSystems) making inferences
Social Skills Improvement System 3–18 years Pragmatics
Rating Scales (SSIS Rating Scales)
(Gresham, F., & Elliott, S. N. [2008].
Bloomington, MN: Pearson)
Structured Photographic Expressive 4–9 years Expressive syntax and
Language Test 3 (SPELT-3) (Dawson, morphology
J., Eyer, J., & Stout, C. [2003].
DeKalb, IL: Janelle Publications)
Test for Auditory Comprehension of 3–13 years Separate subscales of
Language—Fourth Edition (TACL-4) comprehension of words,
(Carrow-Woolfolk, E. [2014]. Austin, grammatical morphemes,
TX: Pro-Ed) syntactic constructions
Test of Language Development- 8–18 years Separate subtests for
Intermediate—Fourth Edition receptive and expressive
(TOLD-I:4) (Hammill, D. D., & semantics, morphology,
Newcomer, P. L. [2008]. Austin, and syntax
TX: Pro-Ed)
Test of Narrative Language (TNL) 5–12 years Assesses narrative
(Gillam, R. B., & Pearson, N. A. production as an element
[2004]. Austin, TX: Pro-Ed) of pragmatics
Test of Pragmatic Language—Second 6–18 years Pragmatics

Edition (TOPL-2) (Phelps-Terasaki,
D., & Phelps-Gunn, T. [2007].
Austin, TX: Pro-Ed)
56
siblings has been consistently reported (Hansen et al., 2019; Ozonoff et al., 2011;
Sandin et al., 2014). Parents in families like these often begin to feel concern even
earlier, during their child’s first year of life. Most clinicians, then, will not have the
luxury of waiting until school age to make a differential diagnosis.
Differential diagnosis among DLD, ASD, and SPCD in toddlers and pre-
schoolers will draw more heavily on naturalistic and observational measures
than on the standardized tests, like those in Table 3.25, typically used to estab-
lish language level in school-aged children. Critical observations will include the
following:
• Presence of joint attentional (JA) acts: Demonstration of sharing

attention and activity, through mutual gaze, imitation, and coordination
of gaze and vocalization reduce the likelihood the child has ASD
(Dawson et al., 2004), and greater frequency of JA behaviors is
associated with better outcomes in ASD (Hurwitz & Watson, 2016; Paul
et al., 2013).
• Use and response to gestures: Children who point, show, wave, and
respond to similar gestures in others are less likely to have ASD.
• Presence of RRBIs: Children who show motor stereotypies, sensory
hyper-or hyposensitivity, insistence on sameness, ritualistic behaviors
(lining up toys), and so on are more likely to have ASD, even when
preverbal. The presence of RRBIs argues for ruling out SPCD in
preverbal children.
• Language comprehension: Children who are not speaking but respond to
their name and simple requests (e.g., “Give me [familiar object]) are less
likely to have ASD.
• Pretend play: Although children with both ASD and DLD are less
advanced in symbolic and pretend play than typically developing peers
(Hobson et al., 2013; Kasari & Chang, 2014; Rescorla & Goossens, 1992;
Rutherford et al., 2007; Terrell et al., 1984), those with ASD show more
severe deficits in this area, as well as reduced interest even in functional
use of toys and other objects and require more prompting to elicit it.
Moreover, they tend to use objects for more sensory exploration than
social or symbolic purposes, to be less interested in engaging with others
around them in play, and tend to exhibit more solitary play, even when
others attempt to engage them.
Standardized tests designed to determine a developmental level of language per-

formance in young children, such as the Preschool Language Scale—Fifth Edition
(Zimmerman et al., 2011) or the Clinical Evaluation of Language Fundamentals-
Preschool—Third Edition (Wiig et al., 2020), may not be adequate to provide the
detailed description of the various aspects of language (expression, reception,
syntax, pragmatics) that must be compared and patterns that must be considered
for differential diagnosis among ASD, DLD, and SPCD. There are, however, sev-
eral observational and parent report measures that, while not norm-referenced,
57
do provide opportunities for observing these patterns. These include the Autism
Diagnostic Observation Scales—Second Edition (Lord & Rutter, 2012), the Autism
Diagnostic Interview—Revised (Rutter et al., 2003), the Communication and
Symbolic Behavior Scales-DP (Prizant & Wetherby, 2002), and the Early Social-
Communication Scales (Seibert et al., 1982). These provide structured opportun-
ities for the observation of behaviors, such as joint attention, use and understanding
of gestures, symbolic play, language comprehension, and the presence of RRBIs,
and are crucial for differential diagnosis in preverbal and young children from
12 months to 5 years. O’Neill’s (2007) Language Use Inventory, a parent question-
naire for children 18–48 months of age, can also be helpful with this age group.
Clinicians working with this population of young children for diagnostic evalua-
tion will generally require training and practice in administering and interpreting
the results of these observational assessments. Figure 3.1 provides guidance for
differential diagnosis in both preschool and older children with social communi-
cation difficulties.
Developmental changes and comorbidity. As the foregoing discussion suggests,
issues in differential diagnosis change with developmental level, as the symptom
constellation and amount of language ability vary among children within this
diagnostic cluster. Since children cannot receive a diagnosis of SPCD without
sentence-level spoken language use, they cannot be diagnosed in the early years.
The question then arises as to how to classify preschool children who do not meet
criteria for ASD, showing no RRBIs, but appear to have their most significant im-
pairments in the use of their limited language and communication skills in prag-
matic rather than syntactic domains of language. This situation would be manifest
in young children who show reduced use of JA and use whatever simple language
they have acquired for limited communication purposes, but do not show RRBIs,
echolalia, or scripted speech. Since DSM-5 allows for co-occurring diagnoses be-
tween DLD and SPCD when a child’s language form is affected but deficits in
pragmatic communication are equally or more pronounced, the most appropriate
diagnostic decision would be to label these preschoolers DLD, where pragmatic
deficits may be seen alongside other communication problems. This would not
rule out a later decision at age 5 to either:
1. retain the DLD label and add a diagnosis of SPCD when sentence-
level language and conversational pragmatic skills advance enough to
meet criteria for the latter and when deficits in syntax and morphology
persist; or
2. to change the diagnosis to SPCD alone when the child is old enough and
has enough conversational skills to demonstrate that pragmatic deficits
are the most prominent disability and that syntax and morphological
deficits have resolved to a significant degree.
Since we know so little about the natural history of SPCD, there are few data on
the symptoms evident in very young children who eventually obtain this diag-
nosis, and a definitive picture of its prodromal presentation is mostly a matter
58
YES
Is the child < 5 years old? Is spoken language delayed?
YES
Are RRBIs** present? NO
YES NO
Is communication Is communication
Is language form
sparse; mostly limited sparse; mostly limited to
more delayed
to requests with little requests with little JA;
than pragmatics,
JA; are eye contact and are eye contact and
communication,
gestures limited; is play gestures limited; is play
JA, and play?
mostly exploratory? mostly exploratory?
YES NO YES NO YES NO
DLD (reassess for DLD (reassess for

ASD Other* ASD ASD
SPCD at age 5) SPCD at age 5)
NO
Does the child speak in full sentences?
YES NO
Are RRBIs** present? Are RRBIs** present?
YES NO YES NO
Is communication Are sentences

Is communication
sparse; mostly syntax,
sparse; mostly requests
Is speech requests morphology,
with little JA; are eye
verbose; with little JA; are eye phonology more
contact and gestures
are contact and gestures impaired than
limited; is peer
conversational limited; is peer pragmatics? Is
interaction and play
skills poor? interaction and play expression more
self-directed, solitary
self-directed, solitary impaired than
and/or inappropriate?
and/or inappropriate? comprehension?
YES NO YES NO YES NO YES NO
ASD Other* SPCD Other* ASD Other* DLD Other*
Figure 3.1. Differential diagnosis of autism spectrum disorder (ASD), developmental

language disorder (DLD), and social pragmatic communication disorder (SPCD).
JA: joint attention; RRBIs: restrictive and repetitive behaviors and interests.
* e.g., Intellectual disability, attention-deficit/hyperactivity disorder, specific learning
disability.
** Including echolalia and scripted speech.
59
of conjecture. Thus, the most reasonable approach would appear to focus on an

accurate distinction between ASD and DLD during the preschool period. For
those who do not show the RRBIs needed for an ASD diagnosis, a reassessment
at school age for changes in the balance of deficits between syntax/morphology
and pragmatics would allow for an alternate or co-occurring diagnosis of SPCD
at that time. There are assessments that can be used with children at least 4 years
of age that can help to make diagnostic decisions. The Children’s Communication
Checklist-2 (Bishop, 2006) provides a psychometrically sound parent question-
naire format. It yields a social interaction deviance composite score that compares
pragmatic and syntactic skills and identifies when pragmatics are significantly im-
paired relative to language form. When RRBIs, echolalia, or scripted language is
not present, this measure can be used to determine whether SPCD is an appro-
priate diagnosis for children over 4 years. Yuan and Dollaghan (2018) provide
guidance on using specific items from within a range of tests for making this dis-
tinction in school-aged children.
Verbal children with ASD sometimes show resolution of most areas of delayed
language form, if any were present earlier, by the time they reach school age. These
children are referred to as ASD-Language Normal (LN). They may even develop
strengths in vocabulary and complex language forms, although they will retain
deficits in pragmatics. Many other children with ASD, though, will show delayed
acquisition of words and sentences throughout the preschool period, and these
deficits will persist in the school years (Tager-Flusberg et al., 2003). Children like
these, often referred to ASD-Language Impaired (LI), can be afforded the diag-
noses of both ASD and DLD. The recognition of this dual diagnosis is especially
important as these children enter the school years to insure that they have access
to services and supports for both their social and linguistics deficits. Children
with DLD, both with and without ASD, who have language deficits that persist
to age 5 are likely to show chronic difficulties in language and related skills such
as reading, writing, and spelling (Bishop et al., 2016, 2017) that persist to adoles-
cence and beyond (Rosenbaum et al., 2016).
Although ASD is a stable diagnosis throughout the lifespan for most, there is a
small group, perhaps 10% of speakers with ASD (Moulton et al., 2016), who by late
childhood or adolescence no longer meet criteria for the disorder. Recent research
suggests that this group with very positive outcomes was generally diagnosed
earlier and received more intensive intervention than peers who retain the ASD
diagnosis (Orinstein et al., 2014). Most research suggests, though, that even when
these individuals no longer meet ASD criteria for communication, social deficits,
or RRBIs, they retain some difficulties with insight, friendship, self-control, and
attention (Orinstein et al., 2015). SPCD does not seem to be a viable diagnosis for
this group, since their deficits are not in the area of conversational pragmatics.
These findings argue for enabling those with a documented, long-standing history
of ASD to retain the diagnosis in order to secure services to assist with these diffi-
culties during the years in which they are eligible for public education.
60
CASE STUDY
Luke was an adorable 22-month-old who looked healthy and hearty in every way.
He began speaking at about the typical time, but when he did, he seemed very
focused in talking about objects and activities he was playing with and did not
show the typical reciprocal interest in what others were doing. Although he rather
assertively called his parents’ attention to these preferred toys and topics, it was
hard to engage him in talking to others. He was often content to play on his own,
even when other children were present, and he enjoyed talking to himself as he
played, often naming objects to no one in particular and repeating the names as
he played. Parents had been looking at some of the information on the Internet on
ASD and wondered if it might describe Luke.
When Luke was a little over 2 years old, his parents arranged an evaluation
with a local birth-to-three agency. The birth-to-three team found that his non-
verbal cognition was at or above age level. Both his receptive and expressive
language scores were at the borderline level, by direct testing as well as by parent
report. He was putting some words together to form two-and a few three-word
sentences, but his expressive vocabulary was somewhat restricted to words for
things he was very interested in, and his ability to engage in simple conversa-
tions, even with adult support, was limited. When asked questions, he often
responded with a remark about whatever he was focusing on at the moment
rather than answering the question he was asked. He related strongly to his
parents, but he was not very interested in the new adults he met at the eval-
uation. His parents reported that he wasn’t much interested in peers, either,
scarcely noticing them when they came to play and becoming upset if they tried
to play in a way different from what he had in mind. He made eye contact when
engaged, especially with his favorite toys, but he was quite content to play on
his own in his own way when left undisturbed. He did respond with gaze to
pointing gestures and did initiate both requests and JA to toys he was interested
in. No motor stereotypies, echolalia, or scripted language was observed or re-
ported by parents.
The birth-to-three team was concerned about some of Luke’s reduced socia-
bility and play skills, but scores based on their observations of his social, emo-
tional, and communicative behaviors documented on the Communication and
Social Behavior Scales-DP were at the low end of the typical range. Both Luke’s lan-
guage form and comprehension were at borderline levels, not quite low enough
to qualify him for services, although the team shared the parents’ concerns, es-
pecially about his social communication. The team did not feel that his deficits
in this area, though present, were severe, pervasive, or consistent enough for a
diagnosis of ASD, especially given the lack of RRBIs, which were required for a
diagnosis. Because his language skills were not low enough to qualify Luke for
public services and he did not meet criteria for ASD due to his lack of RRBIs,
the team recommended that he attend community preschool, and they provided
some tips for both the parents and Luke’s teacher to use in encouraging more so-
cial interaction with peers.
61
Luke’s interactions with peers at school seemed to encourage his language ac-
quisition. When he was tested upon entry to kindergarten, his expressive and re-
ceptive language forms were well within the normal range. His social interaction
skills continued to be problematic, however. He still had trouble playing coopera-
tively with peers, becoming unhappy when he could not direct the play according
to his own notions. He continued to have difficulty removing his focus from what-
ever happened to capture his attention, and his more mature language now al-
lowed him to talk at length in detail about whatever he was interested in at the
moment, sometimes causing peers to tire of interacting with him. He continued
to have trouble answering questions appropriately. He also had difficulty engaging
in pretend play with peers because he did not have the flexibility to adapt his lan-
guage to the theme of the play. Although both his parents and his teacher tried to
accommodate his interests in daily activities, it remained a struggle.
When Luke entered kindergarten, he was placed in a mainstream classroom
without any special services. His teacher there quickly realized that Luke was
having difficulties following classroom rules, getting along with peers, and par-
ticipating in classroom talk about topics she introduced as part of the curriculum.
She requested an evaluation from the Pupil Services Team. His assessment re-
vealed above-average nonverbal cognition, average expressive and receptive lan-
guage forms, but a significant deficit in pragmatics (as identified on the Children’s
Communication Checklist). He was evaluated for ASD, but showed no spe-
cific RRBIs, and his scores on the Autism Diagnostic Behavior Scale and Autism
Diagnostic Interview did not meet criteria for a diagnosis of ASD.
The team was at first stumped, but the Speech-Language Pathologist remem-
bered a professional development workshop she had taken on the new DSM-5 di-
agnosis of SPCD. Although this was not a diagnosis recognized by the Individuals
with Disability Act (IDEA, 2004) that governs service for school-aged children,
so that an individualized educational plan was not mandated by the law for this
disorder, the team was able to provide Luke with some services from the school
psychologist for social-emotional support, in collaboration with the speech lan-
guage pathologist, to work on addressing Luke’s deficits in pragmatic skills. In ad-
dition, the speech language pathologist consulted with the classroom teacher on
strategies for addressing Luke’s pragmatic deficits within the classroom.
CONCLUSIO N
Diagnostic ambiguity has long existed between autism and disorders that prima-
rily affect the communication that enables social interaction (Bishop & Norbury,
2002). This ambiguity stems from the intertwined nature of communication and
social relations, with language serving as the primary way in which human beings
enact social functions. Many researchers have contributed to the effort to more
clearly delineate autistic social dysfunction from more circumscribed language
disability, but there were always some children who inhabited an uncertain “bord-
erland” between the two. This borderland was called by a multitude of names over
62
the years (pragmatic language impairment, semantic-pragmatic disorder), but its

unclear boundaries posed difficult dilemmas for clinicians attempting to classify
children for both research and clinical purposes. DSM-5 made novel decisions
about this diagnostic space, some of which were based on field trials, others on a
long and inconclusive literature. This resulted in the addition of a new category to
the DSM: SPCD. This decision attempted to provide a more clear-cut definition of
the borderland category, stipulating its core deficit as conversational pragmatics
and ruling out any production of echolalia and scripted speech. Nonetheless, its
unfamiliarity to working clinicians, its lack of relation to extant educational cat-
egories, and the very limited information available on its prevalence, prodromal
presentation, developmental trajectory, diagnostic reliability and assessment, and
therapeutic resources render its presence a remaining dilemma for diagnostic
classification. This chapter makes an attempt to operationalize the diagnostic pro-
cess of differentiating among ASD, DLD, and SPCD in order to maximize the
resources available to children who present on this spectrum of disability. But
much more research is needed to fully elaborate the distinctions among the range
of social communicative dysfunctions.
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68

Versus Attention-Deficit/
Hyperactivity Disorder
N A O M I O . D A V I S , K I M B E R LY L . H . C A R P E N T E R , A N D
GERALDINE DAWSON ■
Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder

(ADHD) are both neurodevelopmental disorders that are commonly diagnosed
in early childhood. A review of the Diagnostic and Statistical Manual of Mental
Disorders, fifth edition (DSM-5) diagnostic criteria for ASD and ADHD shows
very little symptom-level overlap between the conditions. However, similar be-
havioral challenges are evident in individuals with both disorders (e.g., difficulty
making friends), and a number of nondiagnostic specific concerns are often pre-
sent across both diagnostic conditions (e.g., emotion dysregulation). Given these
similar phenotypes, clinical questions often arise about whether presenting con-
cerns should be conceptualized diagnostically as reflecting ASD or ADHD. To
date, however, few guidelines exist to support a solid differential diagnosis process.
Questions about differential diagnosis require a solid understanding of the dif-
ferent conditions that are being considered as part of an evaluation. With regard
to ASD and ADHD, a brief historical perspective provides a relevant context from
which to consider these questions. In recent years, a proliferation of research has
been devoted to understanding whether ASD and ADHD are part of a continuum
or are independent, distinct conditions (Antshel et al., 2013; Taurines et al., 2012;
van der Meer et al., 2012). This research conversation has important implications
for clinicians who are tasked with determining whether presenting concerns are
explained by ASD versus ADHD, or by a comorbid diagnosis of both ASD and
ADHD. Prior to the transition to the DSM-5 in 2013, such questions were less
commonly discussed because the attentional and hyperactivity difficulties that are
69
Autism Spectrum Disorder Versus ADHD69
characteristic of ADHD were always considered to be secondary to ASD when

they occurred in individuals with ASD (Antshel & Russo, 2019).
In recent years, scientific discoveries have provided evidence for shared en-
vironmental risk factors, genetic loading, and neural markers between the dis-
orders but also indicate that these disorders are distinct and can co-occur within
an individual (Rommelse et al., 2010; van der Meer et al., 2012). Thus, diagnostic
criteria for ADHD were modified in the DSM-5, no longer considering an ASD
diagnosis as an exclusion for ADHD and permitting co-diagnosis of the two con-
ditions, while also inviting scientific discoveries about the comorbid presentation
of ASD and ADHD (e.g., Avni et al., 2018). To date, however, and in contrast to
the growing understanding of co-occurrence, less research has focused on under-
standing ways in which one condition may “mimic” or present like the other and
how differential diagnoses can be made.
There are many shared characteristics between the disorders, and many indi-
viduals present with symptoms of both disorders. In fact, 40%–60% of children
with ASD meet criteria for a comorbid diagnosis of ADHD (Jang et al., 2013;
Rommelse et al., 2010; Salazar et al., 2015). Understanding the comorbidity
between these disorders has important theoretical and clinical implications.
Evaluating whether presenting symptoms are better explained by ADHD or ASD
versus understanding whether symptoms represent the co-occurring presentation
of these two conditions are separate tasks that have critical importance to under-
standing the nature of these conditions. Differential diagnosis has wide-ranging
impact, from scientific knowledge of the clinical phenomenon, to individual and
family understanding and acceptance of a diagnosis, and to provision of appro-
priate educational and medical interventions.
In the current chapter, we will focus primarily on the differential diagnosis of
ASD and ADHD; addressing the complexities of diagnosis when both conditions
are present is beyond the scope of this chapter. Clinical examples will be pre-
sented to examine common symptom manifestations between the disorders and
ways to evaluate whether symptoms are better attributed to ASD or ADHD. Core
domains associated with both ASD and ADHD will be explored, along with spe-
cific suggestions for disentangling common overlapping symptoms. In addition,
recommendations for clinical practice will be made to support the differential
diagnostic process.
CLINICAL CASE STUDIES
Consider the following two fictional cases: a 5-year-old boy, “Tommy,” with no
prior diagnosis who was referred for evaluation following teacher concern for
disruptive behavior, and a 13-year-old girl, “Sally,” who presented with an existing
diagnosis of ADHD and was referred for further evaluation due to increased so-
cial difficulty.
70
Case Study 1: Case Description
Tommy is a 5-year-old boy whose parents indicated that their primary reason for
evaluation was teacher concern about his adjustment to kindergarten. Tommy’s
parents described that Tommy’s teacher raised concerns a few months after he
began kindergarten in their local public school. Tommy’s teacher reportedly
shared that Tommy had more difficulty than his peers adjusting to kindergarten,
learning the classroom routine, sitting during structured tasks without engaging
in some repetitive fidgeting behaviors, and making friends with other students.
His teacher expressed additional concerns about Tommy’s “behavior” and emo-
tional reactions and shared that other children appeared to be avoiding him due
to concern about his unpredictable behavior. Tommy’s parents shared that he had
previously attended a small, half-day preschool that placed few demands on him.
The preschool valued outdoor exploration, and Tommy spent much of his time
independently outside, usually collecting small nature objects. He was generally
well-behaved on the playground but would consistently push to be first when it
was time to line up at the end of outside time. His parents recalled that Tommy
had struggled with making friends in preschool and that he generally did not par-
ticipate in organized activities such as circle time. When the circle time activity
focused on nature, however, he would want to take part, though he often phys-
ically leaned on his classmates or blocked their view, which frequently resulted
in conflict and distress. When reporting about home behavior, Tommy’s parents
acknowledged similar behaviors at home but remarked he does not have any sib-
lings and these behaviors have rarely caused a problem. His parents stated they are
able to support him at home, though they acknowledged they have adjusted their
expectations for Tommy over time.
Case Study 1: Initial Diagnostic Considerations

Based on this brief case description, the following evidence may be considered
during the differential diagnostic process:
• Evidence for ASD: A history of playing alone on the playground; social

difficulty as indicated by trouble making friends in a new classroom; may
have a restricted interest in nature; may demonstrate repetitive motor
behaviors; has difficulty learning the classroom routine; and appears to
have low frustration tolerance/heightened emotional reactions.
• Evidence for ADHD: Has difficulty waiting his turn and pushes to be
first in line; has trouble sitting appropriately in circle time; has difficulty
attending to tasks/activities such as circle time; appears to have low
frustration tolerance/heightened emotional reactions.
Case Study 2: Case Description
Sally is a 13-year-old girl with a prior diagnosis of ADHD whose parents reported
primary concerns about their daughter’s difficulty making friends. They shared
71
that she was diagnosed with ADHD, predominantly inattentive presentation, in

early elementary school due to concerns about inattention, disorganization, and
trouble following through with her work. She has never presented with hyperac-
tive or impulsive behaviors. Sally has been treated with medication for her ADHD
symptoms with improvements noted at school. Despite her inattention, teachers
described her as a good student who always follows the class rules and completes
her work during the school day, though they consistently reported that she tends
to keep to herself and has limited interactions with her classmates. She has never
been referred for any behavior problems. However, her parents shared that she
experienced particular difficulty with a group project earlier this year due to dif-
ferences in work style and trouble with perspective taking with her group mates.
As such, she was afforded the opportunity to work independently, instead of in
small groups, since that time. According to her parents, Sally has always needed
their support to keep up with and complete homework assignments due to disor-
ganization and trouble remembering her assignments. She has struggled with de-
veloping independence in a range of areas, including personal care, school work
completion, and daily tasks around the house. When her parents provide more
oversight and structure, she is agreeable to completing these tasks and more suc-
cessful, but they worry that she is not taking on “growing up” responsibilities. In
family and community social gatherings, Sally’s parents have observed that she
tends to keep to herself, often walks around the yard throughout the event, and
rarely interacts with the other children, even with encouragement. When she does
interact, she has difficulty sustaining conversations and tends to look away while
talking.
Case Study 2: Initial Diagnostic Considerations

Based on this brief case description, the following evidence may be considered
during the differential diagnostic process:
• Evidence for ASD: Has social difficulty including trouble making friends
and tends to keep to herself in social settings; has a possible restricted
interest in reading; has difficulty engaging in conversations and using
nonverbal communication with peers; has a strict adherence to rules
and may get upset by rule violations; and struggles to participate
appropriately during group project work.
• Evidence for ADHD: Needs homework support to keep up with and
complete tasks; is struggling with completing tasks independently at
home; and has a history of inattention and disorganization at school.
As evident from these cases, the behavioral descriptions suggest that both chil-
dren are experiencing challenges in several domains that overlap between ASD
and ADHD. Specifically, both children appear to struggle with developing and
maintaining friendships compared to their same-aged peers (social difficulties).
Similarly, both have difficulty with general attention to nonpreferred activities (at-
tention regulation) as well as participating or completing tasks as expected (flexi-
bility/rigidity).
72
OVERLAP BETWEEN ATTENTION- D

EFICIT/
HYPERACTIVITY DISORDER AND CORE AUTISM
SPECTRUM DISORDER SYMPTOMS
In the next sections, we present an overview of core symptoms of ADHD and

ASD, while examining specific clinical presentations that illustrate common
shared and unique manifestations of these symptoms.
Social and Communication Difficulties
Social difficulties are a defining feature of ASD and comprise a key part of the
diagnostic criteria for the disorder. Although social difficulty is not regarded as a
key component of the diagnostic criteria for ADHD, social difficulties are often
observed among individuals with ADHD. Clinically, parents of children with
ADHD commonly describe their child as having difficulty making or maintaining
friends, or struggling in age-typical social interactions such as at birthday parties
or in group sports. When social difficulties are presented as a concern in diagnostic
evaluation, clinicians need to gather information about the nature and source of
the social difficulties in order to inform the differential diagnostic process.
The social difficulties that are associated with ASD are conceptualized as re-
sulting from (1) deficits in prosocial reciprocal behaviors related to difficulty per-
ceiving and interpreting social cues, and/or (2) decreased interest in interacting
with others (reduced social motivation). With regard to prosocial behaviors, chil-
dren with ASD have deficits in understanding social phenomena, such as how to
read social cues, how one is expected to act in interpersonal interactions, why cer-
tain behaviors are important in social interactions, and why other people might
hold these expectations about social behavior. Much of this difficulty is believed
to stem from differences in the development of social brain circuitry that is re-
sponsible for perceiving and interpreting a wide range of nonverbal social be-
haviors, such as facial expressions, eye gaze, and gestures (Pelphrey et al., 2004;
Sato & Uono, 2019). A related core deficit is theory of mind, which is defined as
the ability to understand that other people have different perspectives and have a
different way of seeing and interpreting a situation (Mazza et al., 2017). In terms
of social motivation, children with ASD may lack the expected level of interest in
establishing social relationships for their own sake, and instead be more motiv-
ated by pursuing their own areas of interest than by engaging in social interactions
with others. As such, they are less likely to choose social activities over preferred
interests and may then have fewer social opportunities to develop stronger social
skills.
In the context of ADHD, social difficulties are more likely to stem from the
presence of specific ADHD symptoms, rather than the absence of prosocial beha-
vior or motivation as observed in ASD (Antshel & Russo, 2019). Social problems
in individuals with ADHD may be viewed as a consequence of their difficulty with
core ADHD symptoms, such as regulating attention, activity level, and impulses.
73
Inconsistent regulation of attention across contexts, and in particular in social

contexts, can lead to social difficulties when inattention is perceived by the so-
cial partner as not caring or not being invested in a social interaction. Similarly,
dysregulated activity level or difficulty with impulse control may result in spe-
cific, observable behaviors (e.g., difficulty sitting still, blurting out during class)
that negatively impact both the individual and others in a social context such as
a classroom or group activity. Importantly, the social impairments evidenced by
individuals with ADHD are also strongly influenced by environmental factors,
such as the nature of classroom demands, that in turn impact their ability to self-
regulate and modulate their behavior in social contexts, often despite the fact that
they usually have age-typical social understanding and motivation. While such
environmental factors can also influence the degree to which social impairments
are evident in individuals with ASD, their social impairments tend to be more
stable and pervasive across different contexts.
Clinical Examples
Conversation. Social abilities can be understood in terms of a number of com-
ponent social skills or building blocks that are needed to develop and maintain
social interactions that are developmentally expected. Children with both ASD
and ADHD share difficulties across several of these building blocks, including
conversational skills. However, as detailed above, the underlying cause of these
difficulties likely differs between the disorders. For example, reciprocal conversa-
tion is a key element in developing social relationships, but engaging in conver-
sation is complex task and requires a number of components: (1) having a shared
agreement about the conversational topic; (2) listening to what the conversational
partner says; (3) adding comments that are related to the topic or build on what
the partner says; (4) waiting for the other person to respond before jumping in
with a comment; and (5) modulating one’s amount of talking (e.g., length of time,
proportion of the conversation). Individuals with ASD may struggle with iden-
tifying conversation topics that might be mutually interesting and recognizing
that their preferred topic of conversation may not be shared by the conversation
partner. Similarly, they may struggle with adding comments that are on topic. For
individuals with ADHD, however, conversation is less likely to be impacted by
core social misunderstandings. Instead, conversation is more likely to be impacted
by poor self-regulation of length of time talking (e.g., being too long-winded and
not giving the other person a turn) and impulsivity (e.g., blurting out before the
other person is finished talking).
Turn Taking. Successful turn taking relies on recognition of a social partner’s
wants and desires in a social interaction. When children have difficulty taking
turns, their peers may become less interested in having them as social partners.
However, there are different reasons why turn taking can be challenging for chil-
dren with ASD as compared to children with ADHD. In the context of ASD,
taking turns may be challenging because children do not understand the social
expectations of a given situation. For example, a child with ASD may not realize
that a peer who is standing by the swing set, watching the children swing, may
74
be having thoughts about wanting to swing, and may not appreciate how this
peer might feel if they do not get a turn to swing. Although the scenarios might
change in different developmental stages (e.g., turn taking on the playground may
evolve into turn taking in video games), these social misunderstandings can make
it difficult for children with ASD to learn to take turns. In contrast, a child with
ADHD would likely be aware of the social expectations and intentions of others
(e.g., knowledge that having few swings for a whole class requires that children
limit their time on the swings; awareness that standing by the swing set is a signal
that the child wants a turn to swing). However, ADHD-related factors such as
a strong drive for achieving immediate rewards and an inability to inhibit their
desire to swing may impact their ability and willingness to take turns. Similarly,
inattention while on the swing may be associated with failing to notice that others
are waiting for a turn.
Restricted, Repetitive Behaviors and Interests
The second core, defining feature of ASD is presence of restricted, repetitive

behaviors and interests (RRBIs), although this cluster of symptoms is less well-
understood than social communication deficits. This may be due in part to the
diverse, heterogeneous nature of RRBIs as well as the range of theories about the
underlying functions of RRBIs, such as self-stimulation or self-soothing (Leekam
et al., 2011). In contrast to the social-communication domain, there is less re-
search supporting the presence of RRBIs in children with ADHD. Some have
proposed that the domain of RRBIs can be utilized to differentiate between chil-
dren with ASD and those with ADHD because of their lower likelihood of oc-
currence in ADHD (Rommelse et al., 2018). However, there is some evidence
that children with ADHD are rated higher on some aspects of RRBIs than their
non-ADHD and non-ASD peers (Martin et al., 2014). In particular, there is evi-
dence for higher levels of insistence on sameness, circumscribed interests, diffi-
culties with sensory processing, and stereotyped motor behaviors in children with
ADHD (Ghirardi et al., 2019). As with the social difficulties in ADHD, however,
the intensity, quality of, and reasons for these displays of repetitive behavior tend
to differ among children with ADHD as compared to children with ASD.
Clinical Examples
Motor Movements. Difficulty regulating motor movements (e.g., fidgeting, rest-
lessness, impulsive motor behaviors) is often observed in individuals with ADHD,
in particular children with hyperactive-impulsive behaviors. Parents and teachers
also often report that their children with ADHD engage in motor movements that
they perceive to be qualitatively unusual, such as making unexpected body move-
ments in inappropriate situations (e.g., when seated at a formal event). Gathering
information about the contextual or environmental factors that influence such
behavior can help to fully understand the behaviors and others’ perceptions of
75
them. This is particularly important if the behaviors are not observed during an
evaluation, which is more likely if they are specific to a particular environment
rather than generalized or if they do not manifest in more structured situations.
Further inquiry can also help to determine if these motor behaviors are fixed,
rigid, and stereotyped in nature as consistent with ASD (e.g., always performed in
the same way; unusual in presentation such as posturing or peering while finger
flicking), or if the behaviors reflect poor self-regulation but may be appropriate to
the context (e.g., moving erratically around the carpet during circle time because
of boredom or short attention span) as consistent with ADHD.
Rigidity Around Transitions and Interests. Individuals with ADHD may demon-
strate difficulty with transitions and can appear to be rigid or fixated on areas of
interest. However, the manifestations of these RRBs in the context of ADHD are
less likely to be qualitatively unusual as compared to similar behaviors observed
in ASD. For example, like those with ASD, individuals with ADHD may also dis-
play restricted interests (e.g., fixation on a particular game or topic), however the
content of the interest may be age-expected (e.g., popular card games in school-
aged children). Highly restricted interests in the context of ASD, in contrast, may
be unusual in terms of both the content of the interest and the degree to which the
interest is exclusive. Similarly, both children with ASD and ADHD often display
difficulties with transitions, particularly when asked to shift their attention away
from a preferred activity. Notably, the difficulties with shifting attention in ADHD
do not necessarily involve lack of ability to pay attention, but rather difficulty sus-
taining attention on the right thing, at the right time, and for the right length of
time. In ADHD, this difficulty with shifting attention when needed can result in
behavioral presentation of rigidity or inflexibility around transitions (e.g., a child
having a tantrum when told that it is time to end an activity in order to transi-
tion to a new activity). This difficulty is compounded in ADHD by the challenges
with motivation and differences in reward processing (Haenlein & Caul, 1987).
In contrast, children with ASD often demonstrate difficulties with transitions that
extend beyond their engagement in a preferred activity and may be associated
with insistence on sameness, distress when faced with novelty or change, and
dysregulation in the absence of a schedule or clear plan.
Sensory Processing Difficulties. Sensory processing difficulties, particularly sen-
sory over-responsivity, are reported in both ASD and ADHD. However, sensory
difficulties in ASD can be differentiated from those in ADHD by both the pattern
of difficulties and the downstream impacts of those difficulties. For example, while
sensory over-responsivity has been reported in some children with ADHD (Ben-
Sasson et al., 2017), it is far more common in children with ASD and can often
lead to other difficulties, such as picky eating, that are often not seen in children
with ADHD. Furthermore, other domains of sensory difficulties, namely sensory
hyporesponsivity and sensory seeking, are less common in ADHD. Indeed, some
of the more unusual sensory behaviors (e.g., peering at objects from the corner
of one’s eyes) would be unlikely to be seen in children with ADHD and would be
more indicative of ASD.
76
OVERLAP BETWEEN AUTISM SPECTRUM DISORDER

AND CORE ATTENTION-DEFICIT/HYPERACTIVITY
DISORDER DIAGNOSTIC SYMPTOMS
Attentional Difficulties
Attention problems are core to the diagnosis of ADHD and are a central part of
its clinical presentation (American Psychiatric Association, 2013). Diagnostically,
inattention is defined by a set of nine separate symptoms that meet specified cri-
teria in terms of onset, frequency, and severity (i.e., excessive for a person’s de-
velopmental level). In the context of ASD, attention problems are not described
specifically in any of the core criteria for the disorder, yet attentional difficulties
are reported among individuals with ASD. Understanding the context of reported
inattention is important for diagnostic clarity. For example, although failure to
respond when one’s name is called may be interpreted as not paying attention,
individuals with ASD may not respond to their name for other reasons, such as
lacking understanding of the social intention of the person who is calling one’s
name. In contrast, children with ADHD may fail to respond to name when en-
gaged in a rewarding activity (e.g., playing a video game), but would be expected
to respond outside of those moments.
Clinical Example
Difficulty Sustaining Attention on Tasks. Inability to sustain attention as needed
for an age-expected duration on tasks and activities is a hallmark of ADHD.
Importantly, attention can be highly influenced by external factors, such as the
type of task, its inherent reward value to the individual, and the individual’s
motivation to do the task. Difficulty sustaining attention in ADHD is more pro-
nounced in tasks that would be considered boring or tedious as it requires mul-
tiple behaviors: initiating the task, inhibiting impulses to shift attention, and
managing distractions while doing the task. In this regard, ADHD has been
referred to as a disorder of performance—that is, actually sustaining attention—
rather than a disorder of knowledge, that is, understanding that sustaining at-
tention is expected in a given situation (Barkley, 2012, 2015). Individuals with
ASD may have difficulty sustaining during social interactions or in the context
of peer-based activities, and such inattention may be due to a lack of under-
standing of the social expectations or lack of interest in having a reciprocal so-
cial experience. Importantly, because difficulty sustaining attention is expected
to be more pervasive, inattention that is restricted to social situations would not
likely be sufficient for a diagnosis of ADHD. Similarly, both individuals with
ASD and ADHD may display difficulty sustaining attention to required tasks
in the classroom setting. However, while this difficulty is associated with poor
overall attention in ADHD, it can occur in ASD due to overfocus on a specific
or circumscribed interest, if the person is lacking sufficient verbal comprehen-
sion skills, or the person does not understand the classroom routine or task
expectations.
7
Difficulty Managing External Distractions. Being easily distracted by external

stimuli is a core feature of ADHD, yet it is also often apparent in individuals with
ASD. Managing distractions requires the ability to resist the urge to shift atten-
tion away from the task at hand and toward the distractor, as well as the ability to
return readily to the task at hand once attention has shifted. Active management
of distractions is needed when completing any type of task, including academic-
related activities, social activities, and daily living tasks. Among individuals with
ASD, distractibility can be observed in the context of specific sensory interests
(e.g., visual inspection of an item), which are associated with intense focus on
the sensory experience and inability to complete the task. Similarly, sensory aver-
sions can also cause distractibility in that a strong sensory aversion can pull an
individual away from the task and cause dysregulation, which makes task com-
pletion even more difficult. In the context of ADHD, managing distractions is less
commonly associated with circumscribed stimuli, but more often associated with
general distractions which might be perceived as more fun or rewarding than the
task at hand (e.g., watching other children play on the playground through the
classroom window; listening to a teacher talking with a classmate).
Hyperactivity and Impulsivity
Individuals with ADHD often display age-inconsistent levels of hyperactivity and

impulsivity as a core feature of their diagnosis. The diagnostic criteria include
six symptoms of hyperactivity and three symptoms of impulsivity, which cluster
together as nine symptoms that comprise this component of ADHD. The symp-
toms of hyperactivity and impulsivity may be more normative in early childhood,
but they may stand out over time, given that behavioral and impulse regulation
typically improves as children develop. Understanding the context of reported
hyperactivity/impulsivity is important for diagnostic clarity, as is direct observa-
tion followed by inquiry regarding the degree to which observed behaviors are
considered typical for a given individual. For example, racing down a hallway to
try to be “first” to the clinic room would be more commonly observed in younger
children but would stand out in an older individual who has had experience in a
school environment and would have learned rules about walking in the hallways.
Clinical Examples
Excessive Talking. Being chatty can sometimes be an endearing character trait, yet
a high degree of excessive talking may suggest either ASD or ADHD. Evaluation
of the context of excessive talking, such as whether the child is alone or in the
company of others, the content of the talking, and the quality of the child’s lan-
guage are all relevant factors for assessment. In ADHD, excessive talking is often
socially motivated and characterized by a strong need to continue a conversation
or share all of one’s thoughts with the other person. This type of chatty behavior
is associated with difficulty with impulse control, such that the child has difficulty
stopping the behavior when asked (e.g., maintaining some quiet time during a
78
long car ride) and has difficulty inhibiting the urge to blurt out when the other
person tries to have a turn in the conversation. In contrast, in the context of ASD,
a child may talk excessively in the presence of another person but without the
social goal of having a shared experience of the conversational topic. This type of
excessive talking may include talking about circumscribed interests that are not
shared by others, may be a form of delayed echolalia (i.e., “scripting”), or may
occur as a component of a verbal ritual.
Difficulty Remaining Seated. An inability to sit and attend when expected may
also be observed in both ASD and ADHD. For example, both children with ASD
and ADHD may be reported to struggle with appropriate behavior, such as sitting
during circle time or staying at the table for meals; however, the difficulties leading
to these behaviors differ between children with ADHD and ASD. In ADHD, this
difficulty is predominated by an inability to inhibit impulses and difficulties with
high levels of hyperactivity and an urge to move around. Children with ADHD
may be accommodated in the classroom through special seats or by permitting
them to stand to complete work. For children with ASD, difficulty sitting may
pertain less to a sense of physical restlessness and may be better attributed to diffi-
culties with understanding the social expectations and rules of certain situations.
For these children, explicit teaching about how, why, and for how long the child
is expected to sit may be sufficient accommodation to support the developmental
of this skill.
SHARED FEATURES OF AUTISM SPECTRUM DISORDER

AND ATTENTION-DEFICIT/HYPERACTIVITY DISORDER
Several related domains of difficulty that are shared between ASD and ADHD fall
outside of the core diagnostic symptoms of either disorder, but they may be im-
portant to examine in the differential diagnosis process. These domains include
emotion dysregulation, difficulties with self-regulatory control, and increased
levels of other comorbidities (e.g., anxiety). While the absolute presence of these
difficulties does not necessarily rule in or rule out a diagnosis of ASD or ADHD,
further assessment of each area may help with understanding the underlying di-
agnostic picture. For example, while difficulties with emotion dysregulation and
temper tantrums are often present in both ASD and ADHD, analyses of the trig-
gers for these difficulties may be informative: If the temper tantrums are reported
more frequently in response to everyday transitions (e.g., ending eating break-
fast to brushing teeth) or as a result of difficulties with rigidity (e.g., wanting to
drive a particular way to the store), ASD may be implicated. However, temper
tantrums that occur primarily as a result of having to stop doing something that
is rewarding (e.g., playing outside) or are indicative of a more oppositional/argu-
mentative presentation may implicate ADHD instead.
While a deeper understanding of the triggers and patterns of emotion
dysregulation and temper tantrums may help differentiate children with ASD and
79
ADHD, other shared features may not be possible to differentiate between the
disorders. For example, self-regulation for sleep difficulties, particularly insomnia
and difficulties with sleep onset, are often reported in both children with ASD
and ADHD, and sleep impairments can in turn impact emotion regulation and
attention in both disorders. Similarly, higher rates of comorbid psychiatric dis-
orders, in particular anxiety and mood disorders, are reported across both ASD
and ADHD. As such, although the presence of sleep difficulties or comorbid dis-
orders may not specifically aid in the differential diagnosis of ASD and ADHD,
these additional factors are still important to evaluate, given their impact on the
behavioral presentation and associated treatment recommendations.
RECOMMENDATIONS FOR CLINICAL EVALUATION
As evident from these case and diagnostic criteria descriptions, symptom cat-
egories associated with both ASD and ADHD overlap, and both disorders may
also be characterized by features that can be observed in the other diagnosis.
Given this high degree of phenotypic overlap, thorough clinical evaluation for
either ADHD or ASD must include a strategy to best understand the presenting
symptoms and behavioral concerns. To state the obvious, there is not one “test”
that can determine if a child has ASD or ADHD. However, enhanced under-
standing of these symptom presentations is an essential component of the lens
that clinicians may use to conduct the interviews and observations that are part of
evidence-based evaluations for ASD and ADHD.
We propose four primary domains of assessment that should be deployed in
order to determine whether symptoms are better explained by ASD or by ADHD.
Specifically, we recommend that the clinician examine the following: (1) the func-
tion of the behavior by determining what the child is trying to achieve through
the presenting behavior, (2) the child’s understanding of the expected behavior,
(3) the potential impact of the child’s language skills and/or cognitive ability on
presenting behaviors, and (4) the role of developmental expectations on the ob-
served behavior. In Table 4.1 we apply these principles to the case studies pre-
sented at the beginning of this chapter.
Evaluating these four domains will be best accomplished by making use of avail-
able tools to including in-depth interviews with children who are being evalu-
ated, as feasible, as well as parents and caregivers (e.g., ADI-R, semistructured
interviews of ADHD symptoms, and unstructured clinical interviews); rating
scales completed by parents and teachers (e.g., Vanderbilt [Wolraich et al., 2003],
ADHD-RS [DuPaul et al., 1998, 2016], Conners and colleagues [2011], SRS-2
[Constantino, 2012]); structured observations during assessment (e.g., ADOS,
cognitive testing); and unstructured observations (e.g., during an evaluation, in
the classroom). As clinical data are gathered through these different sources, the
clinician will be tasked with reconciling discrepancies that are apparent, for ex-
ample between parent and teacher report, or between behaviors described in an
80
Table 4.1 Example of an Approach to Disentangling the Underlying Basis

of Overlapping Symptom Presentations
Domains of Observed Behavior for Observed Behavior for

Assessment “Tommy”: Not Sitting at Circle “Sally”: Difficulty Participating
Time Appropriately When
Completing Group Projects
Examine the • Is the child trying to escape the • Is the child trying to escape
function of the circle time expectations due completing the work due
behavior to a strong need to pursue a to inattention or difficulty
circumscribed interest? sustaining attention when
• Is he trying to move spots at tasks require mental effort?
circle time to sit closer to a • Is the child able to engage
favorite teacher or friend? in reciprocal conversations
• Is the child trying to escape about the topic of interest?
circle time because of an • Does the child understand the
aversive sensory experience process of taking turns during
(e.g., the sound of everyone a group interaction?
singing)?
Examine • Determine whether the child • Determine whether the child
the child’s understands why the class understands why the teacher
understanding members gather together at might assign a project to be
of the circle time at the beginning of completed as a group and
expected the day and what class members what the expectations might
behavior are supposed to be doing during be for work completion
circle time. when a project is completed
individually versus as a group.
Examine the Determine if the child Determine if the child
potential understands what is being understands the topic that is
impact of discussed at circle time. being address in the group
the child’s • Does the child leave the project.
language and/ circle area because he does • Does the child become
or cognitive not understand what is being dysregulated when she
ability talked about? cannot engage in the abstract
• Does the child have language thinking needed to complete
difficulty that impacts ability to the project?
participate in the activity? • Does the child have language
difficulty to adequately
participate in the activity?
81
Table 4.1 Continued
Domains of Observed Behavior for Observed Behavior for

Assessment “Tommy”: Not Sitting at Circle “Sally”: Difficulty Participating
Time Appropriately When
Completing Group Projects
Examine Determine whether the Determine whether group
the role of classroom activities would be project assignment would be
developmental engaging for peers of similar age/ readily understood by most
expectations developmental level for expected other peers and whether any
on the duration of circle time. instructions or rubrics appear
observed • Does the teacher use adequate for other children.
behavior developmentally appropriate • Does the teacher use a
materials to engage children developmentally appropriate
(e.g., large books, props to method to explain all aspects
explain story)? of the project?
• Is the length of circle time • Is the scope of work
reasonable given the child’s age reasonable given the child’s
and/or developmental level? age and/or developmental
level?
interview and observed during the evaluation. Furthermore, an understanding of

the symptoms must also account for the possible comorbidity of intellectual disa-
bility, including consideration of developmental expectations appropriate for the
individual child. Although these procedures may add valuable time and resources
to an already complex evaluation process, this methodology is clearly needed to
support a careful differential diagnosis and help families with obtaining a clear
sense of the underlying reasons for their child’s difficulties. Moreover, both the
diagnosis and understanding of the nature of the specific symptoms will translate
into different expectations and treatment approaches to help each child be suc-
cessful and have optimal outcomes.
APPLICATION OF CLINICAL DECISION- M

AKING
TO CASE STUDIES
Case Study 1 (“Tommy”): Final Diagnostic Considerations
After a thorough clinical workup, it was determined that Tommy had a primary
diagnosis of ADHD, combined presentation. Functional analysis of each of his
ASD-related behaviors revealed that they were better understood within the con-
text of ADHD symptomatology rather than that of ASD. For example, the social
and communication difficulties described by Tommy’s parents, including playing
82
alone and difficulty making friends, were better attributed to the presence of spe-
cific ADHD symptoms. Namely, difficulties regulating his activity level and im-
pulses led Tommy to have difficulty taking turns and recognizing when he was
in a peer’s personal space, which in turn led peers to avoid playing with him.
Importantly, these behaviors were not due to a lack of social understanding or mo-
tivation. With respect to purported repetitive behaviors, Tommy’s parents noted
that he had a strong interest in nature. However, further evaluation suggested that
this interest was age-appropriate and also somewhat expected, as it was consistent
with the focus of his previous preschool. Furthermore, his parents reported that
he has other interests outside of school and as the school year continued, he was
able to expand his interests to other topics presented in the classroom. Tommy
was also reported to engage in fidgeting behaviors; however, observation of these
behaviors indicated they were not repetitive in nature (e.g., always performed
in the same way), but rather associated with poor self-regulation as consistent
with ADHD. Finally, for any behaviors that initially appeared consistent with an
ASD diagnosis, further evaluation revealed that Tommy’s understanding of social
expectations and cognitive ability were typical for his age and that school and
home expectations were developmentally appropriate.
Case Study 2 (“Sally”): Final Diagnostic Considerations
Sally’s clinical evaluation revealed that, although she had previously been treated
with medication to address ADHD symptoms, she did not meet full criteria for
ADHD and instead met criteria for a primary diagnosis of ASD. Functional anal-
ysis of each of her potential ADHD-related behaviors revealed that they were
better understood within the context of ASD symptomatology rather than that
of ADHD. For example, Sally’s difficulties with completing tasks and avoiding
homework centered on her difficulty disengaging from her circumscribed interest
in reading. Her parents and teachers shared that she would often hide books about
preferred topics under her desk and would engage in reading exclusively while
avoiding assigned work. Furthermore, when her parents and teachers were able to
get her to disengage from reading, she was only able to stay on task for a short pe-
riod of time before returning to her highly focused interest in reading. In addition
to this, after neuropsychological testing, it became clear that her history of inat-
tention and disorganization could be attributed to difficulties in executive func-
tions associated with cognitive flexibility and planning. These were significantly
improved when she was taught to use a structured work system that provided
support so she knew how to independently progress through assigned work and
specified when she would be permitted to read. Moreover, further evaluation re-
vealed that Sally’s primary difficulties revolved around a lack of understanding of
social expectations. In the context of group assignments, Sally struggled to under-
stand the perspectives of her peers and failed to notice nonverbal communication
83
between classmates in the context of these group projects. In family gatherings,

Sally’s limited conversation and tendency to avoid eye contact, although initially
interpreted as inattention to the conversational partner, were ultimately better ex-
plained by a lack of understanding about how to initiate and sustain reciprocal
interactions. Furthermore, because her cognitive and developmental levels were
well above her peers, and because adults tended to modify their expectations for
her in social settings, many of these social difficulties associated with ASD were
not previously recognized.
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86

Versus Conduct Problems
CHARDÉE GALÁN AND CARLA MAZEFSKY ■
INTRODUCTION
Autism spectrum disorder (ASD) is a neurodevelopmental disorder character-

ized by impairments in social interaction and communication and the presence
of restricted interests and repetitive behaviors (American Psychiatric Association,
2013). In addition to these core symptoms, individuals with ASD frequently ex-
hibit serious disruptive behaviors, such as aggression, property destruction, tan-
trums, and noncompliance (Hartley et al., 2008; Mazurek et al., 2013). Associated
with significant impairment and posing enormous challenges to parents and edu-
cators, these behavioral problems are among the most common reasons for child
referrals to mental health clinics even when developmental delays are not imme-
diately apparent. In such cases, in which a child presents with symptoms of both
ASD and disruptive behavior disorders (e.g., oppositional defiant disorder [ODD],
conduct disorder [CD]), clinicians are faced with the challenging task of deciding
whether specific problem behaviors reflect a “true” ODD/CD diagnosis or if such
behaviors are an associated phenotypic feature of ASD (Kaat & Lecavalier, 2013).
This chapter seeks to provide clarity on this issue by reviewing the literature on
the differential diagnosis of ASD and ODD/CD and discussing the nature of com-
prehensive assessment related to differential diagnosis. However, before exam-
ining these issues, diagnostic criteria, prevalence rates, and the development of
ODD and CD will briefly be discussed.
87
Autism Spectrum Disorder Versus Conduct Problems87
OPPOSITIONAL DEFIANT DISORDER AND

CONDUCT DISORDER
ODD and CD are listed in the Diagnostic and Statistical Manual of Mental
Disorders, fifth edition (DSM-5) in the “Disruptive, Impulse- Control, and
Conduct Disorders” chapter (American Psychiatric Association, 2013). While
this section of the DSM also includes disorders such as intermittent explosive
disorder (IED), pyromania, kleptomania, and disruptive behavior disorder not
otherwise specified (DBDNOS), discussion of these other disorders is beyond the
scope of this review. Thus, we use the term “disruptive behavior disorders” to refer
to both ODD and CD in this chapter.
ODD is denoted by the persistent display of angry, hostile, and/or defiant be-
haviors and interactions lasting at least 6 months. The DSM-5 divides the eight
diagnostic criteria for ODD into the following three domains: (1) angry/irri-
table mood (e.g., “often loses temper”), (2) argumentative/defiant behavior (e.g.,
“often actively defies or refuses to comply with request from authority figures or
with rules”), and (3) vindictiveness (e.g., “has been spiteful or vindictive at least
twice within the past 6 months”). A diagnosis of ODD requires the presence of
at least four symptoms which must be exhibited during interactions with at least
one individual who is not a sibling. Further, symptoms only need to be present
in one setting for a diagnosis to be made, and it is not uncommon for youth with
ODD to show symptoms only at home with familiar adults. Nonetheless, the
pervasiveness of symptoms across settings is associated with greater impairment
in functioning. Thus, the severity of an ODD disorder (i.e., mild, moderate, se-
vere), defined based on the number of settings in which symptoms occur (e.g., a
disorder is “severe” if it is present in three or more settings), is now included as
a specifier in the DSM-5.
CD is characterized by a repetitive and persistent pattern of behavior in which
the basic rights of others and age-appropriate societal norms or rules are violated
(American Psychiatric Association, 2013). The 15 CD criteria assess four broad
types of antisocial behavior, including aggression to people and animals (e.g.,
“has used a weapon that can cause serious harm to others”), destruction of pro-
perty (e.g., “has deliberately engaged in fire setting with the intention of causing
serious damage”), deceitfulness or theft (e.g., “has broken into someone else’s
house, building, or car”), and serious violation of rules (e.g., “often stays out at
night despite parental prohibitions, beginning before age 13”). To be diagnosed
with CD, at least 3 of 15 symptoms must be present in the past 12 months, with
one symptom having been present in the past 6 months. The primary change
from the DSM-IV to DSM-5 has been the addition of the specifier “with limited
prosocial emotions” to characterize a subgroup of CD youths with high levels of
callous-unemotional (CU) traits. CU traits index the affective and interpersonal
aspects of psychopathy in children, and children with elevated CU traits dem-
onstrate restricted affect, manipulation of others for personal gain, and a lack of
concern or guilt about the consequences of their behavior for themselves (e.g.,
8
disciplinary action) or others (victim distress). The decision to include CU traits

as a specifier in the DSM-5 was based on research suggesting that these charac-
teristics may demarcate a subgroup of youth with particularly severe, violent,
and chronic patterns of antisocial behavior that is resistant to treatment (Frick
et al., 2014).
In contrast to earlier editions of the DSM, the DSM-5 does not preclude a di-
agnosis of ODD when criteria for CD are met. Despite some similarities in CD
and ODD symptoms, including their contribution to contentious relationships
with caregivers and other authority figures, ODD is generally characterized by less
severe forms of disruptive behavior compared to CD. Further, ODD symptoms
are usually first exhibited during the preschool years and can be difficult to dif-
ferentiate from developmentally normative temper tantrums and noncompliance
(Wakschlag et al., 2010). Thus, it is critical that clinicians consider a child’s devel-
opmental level as well as the severity and intensity of symptoms prior to endorsing
diagnostic criteria for ODD. In contrast, the types of seriously aggressive and an-
tisocial behaviors characteristic of CD are not normative at any developmental
stage. Although CD is usually diagnosed between middle childhood and middle
adolescence, symptoms can appear as early as the preschool years. Notably, CD is
categorized into three subtypes based on the age at which symptoms occur (i.e.,
childhood, adolescent, and unspecified onset), with earlier onset of symptoms re-
lated to a worse prognosis (American Psychiatric Association, 2013).
KEY CONSIDERATIONS FOR DIFFERENTIAL DIAGNOSIS

OF AUTISM SPECTRUM DISORDER AND OPPOSITIONAL
DEFIANT DISORDER OR CONDUCT DISORDER
Overlapping symptoms, ambiguous symptom presentation, and diagnostic over-

shadowing complicate the differential diagnosis of ASD and ODD/CD. Some
characteristics are common in both youth with ASD and youth with ODD/CD,
and, therefore, they may not be as useful in differential diagnosis. This includes
emotion dysregulation, which is highly prevalent in both populations and likely
not disorder-specific. However, while the assessment of ODD/CD in ASD is com-
plex and challenging, there are several concepts that can be used to guide differ-
ential diagnosis, discussed in the following sections (see Table 5.1).
Key Factor to Consider 1: Function of the Behavior
When considering a diagnosis of ODD/CD in the context of ASD, it is critical

to determine the function of a child’s oppositional and noncompliant behavior.
Research suggests that ASD-specific phenotypic features, such as restricted and
repetitive behaviors, may contribute to the development and maintenance of
aggressive behaviors in individuals with ASD. For example, in a sample of 2-to
5-year-old children with ASD, Reese and colleagues (2003) found that children’s
89
disruptive behaviors often served the function of gaining access to perseverative

activities, escaping demands while engaged in these activities, and avoiding
aversive sensory stimuli. Thus, it is important to assess whether oppositional
or aggressive behavior may be better accounted for by ASD-related symptoms,
such as extreme distress due to changes in routine or hyper-reactivity to sen-
sory stimuli. Failure to consider the function of a child’s behavioral problems
may lead to an initial ODD/CD diagnosis that masks the presence of ASD and
delays an ASD diagnosis, particularly among ethnic minority children (Mandell
et al., 2007).
Table 5.1 Special Considerations Related to the Presentation and Diagnosis

of Oppositional Defiant Disorder and Conduct Disorder Symptoms
in Autism Spectrum Disorder
Symptom Differential Baseline/Differential Potential Unique

Complexity Diagnosis Manifestations in
Considerations ASD
Oppositional Defiant Disorder
Angry/irritable Common in Are the child’s Child’s temper
mood: often loses both disorders temper tantrums tantrums are
temper, touchy, easily or anger related to related to insistence
annoyed, angry ASD-related factors, on sameness,
such as resistance to accompanied by
change, avoidance of repetitive, restricted
social stressors, or interests, or related
sensory issues? to sensory overload.
Argumentative/defiant Behavior may Is the defiant Child frequently
behavior: often actively appear in both, behavior truly does or says things
defies or refuses to but function/ purposeful and that others find
comply with requests source of the manipulative? Is annoying but
from authority figures; behavior may the child’s failure is unaware that
often deliberately annoys differ to follow directions their behavior is
others due to difficulties perceived as such.
with comprehension,
attention, or hearing?
Is the child aware that
others find his or her
behavior annoying?
Vindictiveness: has been More common Does the child Child demonstrates
spiteful or vindictive at in ODD than understand the social overly rigid,
least twice within the ASD nuances of social inflexible thinking
past 6 months relationships? regarding moral
transgressions.
(continued )
90
Table 5.1 Continued
Symptom Differential Baseline/Differential Potential Unique

Complexity Diagnosis Manifestations in
Considerations ASD
Conduct Disorder
Aggression to people Common in Is “bullying” more Aggression to
and animals: bullying, both disorders reflective of lack of people/animals may
initiating physical but the quality social censoring or be due to a lack of
fights, using a weapon, may differ understanding? understanding of
physically cruel to need to be gentle.
people/animals Aggression
Destruction of Common in Was the destruction and property
property: deliberately both disorders of property destruction are
destroyed others’ but the quality intentional? impulsive rather
property, setting fires may differ than planned and
predatory.
Deceitfulness or Uncommon in
theft: breaking into ASD
someone else’s house,
building, or car;
shoplifting
Serious violation of More common Is wandering a Parents are

rules: stays out late at in CD than baseline concern often aware that
night, runs away from ASD and (and potentially due the child is not
home, truant from similar to other factors such attending school;
school behaviors in as sensory overload)? child attempts to
ASD may have Are the child’s school persuade parents
a different absences due to ASD- to not make them
quality related factors (e.g., go (i.e., school
emotional distress refusal versus
concerning social truancy). Child
situations)? Is the is emotionally
child able to skillfully distressed when
conceal his or her forced to go to
school absences from school.
parents?
ASD: autism spectrum disorder; CD: conduct disorder; ODD: oppositional defiant
disorder.
Key Factor to Consider 2: Social Functioning
Specific ASD-
related social deficits differentiate individuals with ASD from
those with CD and ODD. In contrast to ODD/CD in which social difficulties
91
are common but not part of the diagnostic criteria, deficits in social interaction
constitute one of the major areas of impairment required for an ASD diagnosis.
Such impairments can take many different forms. While some children with ASD
may prefer solitude, demonstrating little interest in interacting with peers or cul-
tivating friendships, others may seek out social interactions but do so in odd
ways. The latter children, sometimes referred to as “active-but-odd” (Ghaziuddin,
2008), may ask inappropriate questions (e.g., ask personal questions of someone
they just met) or intrude into another person’s space (e.g., intrusive touching).
Other deficits in social-emotional reciprocity common in ASD include reduced
sharing of interests (e.g., will not show or point out objects of interest to other
people) and difficulties engaging in normal back-and-forth conversation (e.g.,
may have a one-sided conversation or interrupt others to initiate a conversation
about a restricted interest). While many of these behaviors may be perceived as
annoying, defiant, or rude, children with ASD may not realize that others are an-
noyed or offended by their behavior.
In contrast to youth with ASD, children with ODD or CD only, do not exhibit
widespread and long-term difficulties in social interaction. While children with
ODD/CD may be socially savvy and charming with certain people or in specific
situations, they may be argumentative and defiant in others. Notably, symptoms
of ODD such as “deliberately annoys others” and “actively defies or refuses to
comply with requests from authority figures or with rules” require that clinicians
determine that a child is purposefully being defiant and annoying. Thus, the lack
of social reciprocity among children with ODD only often represents a volitional
attempt to be defiant, and inconsistencies in a child’s display of appropriate so-
cial norms across settings should alert the clinician that ODD may be part of
the differential diagnosis. Similarly, while CD is characterized by a persistent pat-
tern of behavior in which the basic rights of others or major societal norms are
purposefully violated, ASD-related rule-breaking behavior stems from not under-
standing social rules or possessing the skills to appropriately navigate social situ-
ations. Thus, a key consideration in the differential diagnosis of ASD and ODD/
CD is whether a child is aware of social conventions and is able to recognize when
others are annoyed.
Key Factor to Consider 3: Communication Deficits
When considering a diagnosis of ODD in the context of ASD, it is important to

assess a child’s receptive and expressive language abilities, as deficits in these areas
may underlie a child’s apparent behavioral problems. Receptive language is an
important component of language that involves the ability to understand or com-
prehend language, including the use of gestures and simple directions. Expressive
language, in contrast, refers to the use of speech, gestures, or alternative forms of
communication to convey wants, needs, thoughts, and ideas. Given that children
with ASD tend to show both receptive and expressive language difficulties, a key
concern is determining whether a child’s defiant and oppositional behavior is due
92
to ASD-related language impairments or if these symptoms warrant a separate di-

agnosis of ODD/CD. Deficits in receptive language may interfere with children’s
ability to follow directions or complete multistep tasks at home or in school.
Children with below-average expressive language ability may become frustrated
or angry when they are unable to express their wants or needs. The same may be
true for intellectual ability, as children with ASD may resist or avoid doing a task
that is above their cognitive capacity. Thus, it is critical that ODD be distinguished
from a failure to follow directions that is the result of language or cognitive delays.
Nonetheless, if the frequency and severity of disruptive behavior exceed a certain
threshold, a diagnosis of ODD may be warranted even if the child’s difficulties are
related to language and/or cognitive delays.
A complication of using language difficulties to guide differential diagnosis is
that language problems are not specific to ASD and have been well-documented
in youth with disruptive behavior disorders as well. For example, in a sample
of clinic-referred 10-year-olds, youth with CD and ASD had pragmatic lan-
guage impairments when compared to typically developing youth (Gilmour
et al., 2004). However, there were no differences in pragmatic language between
youth with CD and those with ASD, suggesting comparable levels of language
impairments among these diagnostic groups. Further, in a meta-analysis of 19
controlled prospective studies, Yew and O’Kearney (2013) found that 3-to 8-
year-olds with specific language impairments were more than twice as likely to
show clinical levels of conduct problems when compared to their peers with typ-
ical language development 2 to 12 years later. While these findings point to an
important association between early language difficulties and behavioral prob-
lems, few studies included in the meta-analysis controlled for baseline levels
of behavioral problems, precluding conclusions regarding the directionality
of effects. Yew and Kearney (2015) sought to address this issue by examining
whether language difficulties at age 4 are related to developmental trajectories
of conduct problems from ages 4 to 11 in a nationally representative cohort of
Australian children. Children were classified into the “early language difficulty”
group based on impairments in receptive and/or expressive language difficul-
ties, and investigators excluded youth with ASD. Despite finding that children
with early language difficulties and those with typical language both showed a
significant decline in conduct problems between ages 4 and 11, children with
early language impairments showed a persistent elevation in conduct problems
compared to their peers with typical language. Findings suggest that early lan-
guage impairments make a direct contribution to the development and mainte-
nance of conduct problems, although additional longitudinal research is needed
to corroborate these findings. Further, although ODD/CD can co-occur with
specific language impairments, the DSM-5 emphasizes that such diagnostic
labels should not be applied when the failure to follow directions is the result of
impaired language comprehension.
Other communication and speech patterns, such as prosody, can be helpful
in determining whether a child has ASD. Prosody refers to the suprasegmental
93
aspects of speech, such as rate, volume, rhythm, stress, and intonation that are
used to modulate the intent of spoken messages. By the age of 2 to 3 years, typically
developing children begin to master prosodic cues, such as meter, phrasal stress,
and boundary cues in their production of speech (Snow, 1994). In contrast, indi-
viduals with ASD display deficits in many aspects of prosody across the lifespan,
and abnormal prosody is one of the earliest signs of the disorder (Schoen et al.,
2011). For example, children with ASD may talk in a flat, high-pitched, or sing-
song tone of voice, exaggerating certain sounds and syllables in an odd way. They
may also talk in a mechanically robotic tone of voice or demonstrate stereotyped
or repetitive speech patterns, such as echolalia, immediate or delayed parroting of
what others say (e.g., quoting scenes from television shows or movies), or the use
of “you” when referring to self. Notably, prosodic production differences are seen
across the spectrum, including those with more normal language development
and higher functioning ASD (Peppé et al., 2007), but are unlikely to be present in
a child without ASD.
In addition to deficits in verbal communication, deficits in nonverbal commu-
nication, such as gaze, facial expressions, physical approach, and gestures, are also
evident in ASD. There may be reduced use of nonverbal behaviors in general, in-
cluding a lack of pointing, limited eye contact, and flat facial expressions, as well
as aberrant nonverbal communication patterns not often observed in typical de-
velopment (e.g., grabbing someone’s finger to point). Although youth with ODD
may also show limited affect or avoid eye contact, it is important to note that such
behavior stems from an intentional attempt to be defiant, dismissive, and/or rude
rather than from a skill deficit. Thus, it is important to assess one’s overall level
of eye contact and affect before assuming that the lack of responsiveness to adult
directives is an intentional act of defiance rather than a skill deficit.
Key Factor to Consider 4: Deficits in Empathy
Although both ODD/CD and ASD are characterized by impaired empathy, the
nature of these deficits may differ across disorders. Empathy, generally defined
as the ability to perceive and share in another’s emotional state (Eisenberg &
Fabes, 1990), is a multifaceted construct that can be differentiated into cog-
nitive and affective processes. The cognitive component of empathy refers to
the ability to recognize the feelings and take the perspective of other persons
and is typically measured with emotion matching or emotion labeling tasks.
In contrast, affective empathy involves the vicarious experiencing of another’s
emotional state and can be assessed with autonomic physiological measures or
self-report (Blair, 2005).
There is extensive research showing that individuals with CD plus CU traits
have impairments in affective empathy (Anastassiou- Hadjicharalambous &
Warden, 2008; de Wied et al., 2012). Although children with ASD also show
deficits in empathic abilities, in contrast to youth with CD plus CU traits, these
94
difficulties appear to be related to aspects of cognitive empathy, particularly for

the identification of more complex and blended emotions (Blair, 2005; Harms
et al., 2010). For example, Jones and colleagues (2010) compared 9-to 16-year-
old typically developing boys, boys with ASD, boys with conduct problems only,
and boys with conduct problems and high levels of CU traits on their cognitive
and affective empathy abilities (Jones et al., 2010). Results showed that youth with
ASD struggled on tasks requiring cognitive perspective taking but demonstrated
comparable levels of affective empathy as comparison boys, reporting that they
would care about their victims’ feelings and feel badly for their actions if they
were to aggress against a peer. Notably, deficits in cognitive perspective taking
were specific to the group with ASD. Boys with conduct problems and CU traits
also reported less fear about being punished for their actions and less empathy for
victims of aggression than comparison youth. It is possible that although youth
with CU traits are aware of others’ emotions, intentions, and motivations, they
may use this knowledge to exploit and manipulate others by appearing trust-
worthy and charming. Finally, boys with conduct problems only did not differ
from comparison boys on cognitive or affective empathy, suggesting that the
deficits in affective empathy seen in boys with conduct problems and CU traits
were specific to that subgroup and not characteristic of all boys with conduct
problems. Other studies have similarly failed to find deficits in affective empathy
in youth with ASD (Blair, 2008; Schwenck et al., 2012) or deficits in cognitive
empathy in individuals with CD only (Schwenck et al., 2012). Nonetheless, other
studies have shown deficits in cognitive empathy in children with CD compared
to controls (e.g., Fairchild et al., 2010), although it is possible that contrary re-
sults may be related to whether studies differentiated between CD children with
high versus low CU traits.
In sum, findings suggest that children with ASD may have difficulty under-
standing the perspective of others and consequently may respond to others’ dis-
tress in a seemingly superficial, cold, and uncaring manner. However, as noted by
Jones and colleagues (2010), “if information is presented in a way that enables in-
dividuals with ASD to identify others’ point of view, they appear to show as much
concern and compassion as typically developing individuals” (p. 1189). Thus,
while the lack of empathy seen in ASD stems from lack of awareness, CD plus CU
traits is characterized by an insensitivity to the feelings of others and deliberate
attempts to exploit, manipulate, and harm other people (Hansman-Wijnands &
Hummelen, 2006). Notably, this manipulative, callous use of others for one’s own
gain requires a sophisticated understanding of the nuances of social relationships,
which is not common in ASD.
We emphasize that the preceding section is only a brief snapshot of studies
examining empathy impairments in youth with ASD and disruptive behavior dis-
orders. In reality, this literature has yielded mixed findings, which are likely due
to inconsistencies between studies in the operationalization of empathy as well
as variability in participant characteristics and empathy stimuli. Thus, although
accurately identifying the type of empathic deficit demonstrated by an individual
could be useful in the differential diagnosis of ASD and ODD/CD (especially CD
95
with CU traits), this information should never be used in isolation to make diag-
nostic decisions, given inconsistencies in the literature.
Assessment Process
When considering a differential diagnosis of ASD and ODD/CD, it is critical to

conduct a comprehensive evaluation that collects information regarding family
background, developmental history, and the child’s current functioning across
multiple domains (e.g., communication skills, intellectual ability, behavioral
problems, autism symptomatology). It is also important to examine a child’s
medical history for evidence of gastrointestinal symptoms, seizures, and other
medical problems, which are common in ASD and may contribute to disrup-
tive behaviors by increasing child pain and discomfort (Mazefsky et al., 2011).
Further, when feasible, a multimethod approach should be adopted, integrating
data via a combination of rating scales, interviews, standardized assessments,
and behavioral observations. As behavioral presentation may vary across con-
texts and informants may have divergent views on the nature, intensity, and
frequency of a child’s disruptive behavior problems, it can also be helpful to
obtain information from multiple informants (e.g., caregivers, teachers). The
sections that follow summarize some of these assessment methods that can be
used in the differential diagnostic process. Although we focus on behavioral as-
sessments, any evaluation should include consideration of communication, IQ,
and adaptive behavior with additional neuropsychological testing or referrals
as indicated.
Rating Scales
Although several rating scales are available to assess for disruptive behavioral
problems in school-aged youth, relatively few have been evaluated in or devel-
oped specifically for youth with ASD. However, used in combination with other
assessment information, instruments developed for the general population or
for children with developmental disabilities may provide valuable information
to guide diagnostic decisions. Brief descriptions of applicable rating scales with
strong psychometric properties are provided below.
NICHQ Vanderbilt Assessment Scales (Wolraich et al., 2003). The NICHQ
Vanderbilt Assessment Scales are a set of parent and teacher report measures
used to screen for attention-deficit/hyperactivity disorder (ADHD), ODD, CD,
and anxiety/depression in children ages 6 to 12. The severity of the child’s beha-
vior is rated using a 4-point scale that ranges from 0 “never” to 3 “very often” and
academic performance in math, reading, and written expression, as well as the
quality of the child’s relationships with peers, parents, and siblings is rated on a
5-point scale that ranges from 1 “excellent” to 5 “problematic.” To meet DSM-5
criteria for a diagnosis of ODD, an individual must have at least 4 out of 8 positive
responses (i.e., score of 2 “often” or 3 “very often”) on the symptom assessment
screen. For CD, 3 out of 14 positive responses are required. Further, for both ODD
96
and CD, there must also be at least two performance questions on which the child
scores a 4 (“somewhat of a problem”) or one performance question in which the
child scores a 5 (“problematic”). Thus, to meet criteria for ODD and CD on the
Vanderbilt, a child must display symptoms consistent with these diagnoses as well
as demonstrate impairment in functioning.
The Vanderbilt Assessment Scales have strong psychometric properties, in-
cluding good internal consistencies, with Cronbach’s α > 0.90 and > 0.89 for all
parent-and teacher-reported subscales, respectively (Wolraich et al., 2003, 2013).
A meta-analysis demonstrated that the test-retest reliability correlations exceeded
0.80 for all summed scores and the scale has adequate sensitivity (0.80) and spec-
ificity (0.75; Bard et al., 2013).
Eyberg Child Behavior Inventory (ECBI; Eyberg & Pincus, 1999). The ECBI is a
36-item parent-rating scale that is used to assess disruptive behavior problems in
youth ages 2 to 16.
Parents are asked to rate how frequently each behavior occurs using a 7-point
Likert scale that ranges from 1 (“Never”) to 7 (“Always”). Parents then indicate
whether each behavior is currently a problem for them, 0 (“No”) or 1 (“Yes”). The
ECBI yields two scales: (1) an Intensity Scale, which reflects how frequently the
child displays each problem behavior, and (2) a Problem Scale, which reflects the
extent to which the parent finds the child’s behavior problematic. Clinical cutoffs
are produced for clinically elevated levels of disruptive behavior problems as well
as significant levels of parental distress related to the child’s behavior. The ECBI
demonstrates high internal consistency (α =0.93–0.95) and adequate interrater
reliability (r =0.61–0.79) and test-retest reliability (r =0.75) (Eyberg & Robinson,
1983; Funderburk et al., 2003). While the ECBI does not yield separate scores
for different types of problem behaviors (e.g., CD, ODD), prior work suggests a
three-factor solution that includes oppositional defiant behavior toward adults,
conduct problem behavior, and inattentive behavior (Burns & Patterson, 2000).
Relatedly, although the items on the ECBI are not specifically keyed to DSM cri-
teria for CD, the measure discriminates between children referred for conduct
problems and nonreferred children (Rich & Eyberg, 2001), and thus can be util-
ized as a screening instrument in clinical settings. Further, the ECBI has been
widely used to assess behavioral problems in children with developmental disabil-
ities, including youth with ASD and Down syndrome (Sofronoff et al., 2004), and
is sensitive to measuring treatment effects on youth disruptive behavior problems
(Nixon et al., 2003).
The Achenbach System of Empirically Based Assessment (ASEBA; Achenbach &
Rescorla, 2001). The ASEBA family of instruments is widely used in clinical and
research settings to assess behavioral and emotional problems in children ages 1.5
to 18 years. There are parallel forms for parents (Child Behavior Checklist; CBCL/
1½-5, CBCL/6-18), youth (Youth Self-Report; YSR/11-18), and teachers (Teacher’s
Report Form; TRF/6-18). The ASEBA measures contain a Total Problems Scale,
Internalizing and Externalizing broadband scales, and eight syndrome scales, in-
cluding Rule-Breaking Behavior and Aggressive Behavior. DSM-oriented scales
97
have also been derived, which are computed based on items that correspond to
DSM criteria for various disorders, including ODD and CD. Notably, the CBCL
1 ½-5 now includes a DSM-oriented scale of Autism Spectrum Problems, which
can be used to screen for ASD symptomatology in young children, although an
equivalent scale does not exist for the school-aged version of this measure. All
ASEBA scales have a mean T-score of 50 and a standard deviation of 10, and
separate norms are provided for each gender within the 6-to 11-year and 12-to
18-year age ranges.
Although the CBCL has frequently been used in studies of children with ASD
(Sikora et al., 2008), studies examining its psychometric properties in ASD sam-
ples have yielded mixed findings. Medeiros and colleagues (2017) showed that
the CBCL factor structure held for younger but not older children with ASD
(Medeiros et al., 2017). In contrast, Pandolfi and colleagues (2009, 2012) found
support for the factor structure of both age versions of the CBCL (i.e., ages 1.5–5
and ages 6–18; Pandolfi et al., 2009, 2012), and scale reliabilities were good to ex-
cellent with a median of 0.85. Further, in the older sample of 128 youth with ASD,
authors showed that the Total Problems scale, Externalizing Problems broad-
band scale, and Aggressive Behavior syndrome scale were best at discriminating
youth with ODD from those without. However, despite demonstrating acceptable
sensitivity, many scales had low specificity, suggesting that the CBCL should be
combined with ASD-specific measures such as the Autism Diagnostic Interview-
Revised (ADI-R) and Autism Diagnostic Observation Schedule (ADOS), and
specific measures of emotional and behavioral disorders such as the K-SADS to
determine whether elevated scores on the CBCL reflect the presence of a true
ODD or CD diagnosis.
Semistructured Interviews
While rating scales can be helpful in quickly assessing for the presence oppo-
sitional and defiant behaviors, they should not be used to make a diagnosis of
ODD or CD without confirming and elaborating on the information with inter-
views. Standardized, semistructured interviews provide a useful framework for
assessing the presence of specific behavioral problems and their frequency of oc-
currence, duration, and impact on individual and family functioning. Although
the time-intensive nature of structured interviews is a significant barrier to using
them in many clinical settings, this assessment method provides the level of in-
depth information required for complex differential diagnosis that is difficult to
obtain through alternative methods such as questionnaires. Mazefsky and col-
leagues (2011) recommend that if administering a full structured interview is not
feasible, a subset of relevant sections can be selected to collect the most pertinent
information.
The Autism Comorbidity Interview (ACI; Leyfer et al., 2006) is a modified ver-
sion of the Kiddie Schedule for Affective Disorders and Schizophrenia—Present
and Lifetime Version (K-SADS) for ASD and/or intellectually disabled popula-
tions. This semistructured interview assesses the presence of both lifetime and
98
current (past 3 months) diagnoses for most major psychiatric disorders, including
ODD and CD. While the ACI is based on the DSM-IV, diagnostic criteria for
ODD and CD were largely unchanged in the DSM-5 with the exception of ad-
ditional specifiers to better capture the heterogeneity in these disorders. Thus,
continued use of the ACI is likely appropriate despite changes in the DSM ver-
sion. Importantly, the ACI provides example behaviors intended to capture the
unique ways in which oppositional and antisocial behavior may manifest in ASD.
These differential diagnostic considerations are included to ensure that symptoms
that may be better explained by ASD symptoms are not mistakenly attributed to
ODD/CD. The ACI has been shown to be a valid and reliable measure, with high
sensitivity, high specificity, and excellent interrater reliability (Leyfer et al., 2006).
Although utilizing a measure developed specifically for ASD populations is ideal
for the differential diagnosis, as the ACI is not publicly available, the K-SADS is
also acceptable to use; nonetheless, when administering a measure that was devel-
oped for the general psychiatric population such as the K-SADS, it is important
to keep in mind the key considerations for differential diagnosis discussed in this
chapter.
Functional Behavioral Assessment

Functional behavioral assessment (FBA) is an important part of the differential
diagnostic process, as it helps to elucidate the function of a particular behavior
through the systematic collection of information. Prior to conducting an FBA,
it is important to first define the specific behavior(s) of concern that will be the
focus of the data collection process. After this is done, interviews and rating scales
can be used to gather more information regarding the nature of the target beha-
vior (e.g., frequency, intensity, duration), the specific conditions under which it
occurs (e.g., location, time of day, in the presence of certain individuals), and the
consequences that have maintained the behavior via negative or positive rein-
forcement. The Functional Assessment Interview (FAI; O’Neill et al., 1990) and
the Functional Assessment Checklist: Teachers and Staff (FACTS; March et al.,
2000) are examples of semistructured interviews that can be used with caregivers
and teachers, respectively, to conduct an FBA.
Although interviews and rating scales are a useful starting point for identifying
the function of a behavior, these indirect methods are best used in conjunction
with direct observation of a child in their natural environment. Direct observa-
tion methods frequently utilize an Antecedent-Behavior-Consequence (ABC)
form to record a descriptive account of the target behavior, its antecedents, and its
consequences. By noting patterns of increased or decreased levels of the target be-
havior across different situations, the function or purpose of the behavior can be
identified. Further, it is important that these observations be conducted in mul-
tiple settings, as variability in the presence and severity of challenging behaviors
across contexts is likely to provide valuable insight regarding the appropriateness
of an ODD/CD diagnosis. These techniques should be implemented by profes-
sionals (e.g., board-certified behavior analysts, school personnel, clinicians) who
have received specialized training in FBA methods.
9
Case Example
Carter is a 10-year-old boy who presented for an evaluation due to behavioral

problems. He was having nearly daily behavioral outbursts at home and at
school. His mother reported that he would immediately hit others when frus-
trated. His teachers complained that it appeared as if he was uninvested and not
listening. Teachers noted that he “blatantly looks in another direction” when they
are directly speaking to him. He seemed nonresponsive and unemotional when
prompted to complete unfinished work, which his teachers interpreted as oppo-
sitional behavior. His parents and teachers have attempted behavioral plans and
contracts but reported little change in his behavior. Carter’s mother reported that
he has demonstrated difficulties in social situations since he was 3 years old. As
a toddler, Carter kicked or growled if someone he did not know or did not like
came near him. Carter’s mother reported that he is now more open to others ap-
proaching him and trying to join in his play as long he is “running the show.”
Further, Carter’s teachers described him as the “class clown,” although his peers
reportedly find his behavior more annoying than funny. Carter’s mother reported
that his interests focus on playing with Webkinz and LEGOs and looking up
things on Wikipedia. He has a tendency to get very stuck on ideas and interests;
his mother said he “won’t let it go” to the point that he “will drive you nuts.”
Assessment Battery
Given Carter’s history of social difficulties and aversions, tendency to have overly
focused interests, and lack of response to standard behavioral treatments, the
possibility of ASD was considered. Standardized diagnostic tests for ASD were
administered, including the ADOS and the ADI-R. Lack of eye contact was ob-
served, as reported by his teachers, but eye contact atypicalities were present
across contexts and activities. He also rarely coordinated other nonverbal cues
such as gesture and facial expression with eye contact. Carter exceeded cutoffs for
ASD on both measures. Overall, ASD was determined to capture his challenges
most clearly, and it was diagnosed as his primary disorder.
Carter’s Full Scale IQ as measured by the Weschler Abbreviated Scale of
Intelligence was in the average range (standard score of 105), but he had a verbal-
performance spilt (VIQ of 115 and PIQ of 89). Carter’s parents also completed the
Vineland Adaptive Behavior Scales, a commonly used measure of adaptive beha-
vior in the areas of communication, daily living skills, and socialization (Sparrow
et al., 2016). Carter’s overall composite on the Vineland revealed significantly de-
layed adaptive behavior that was well below what would be expected based on his
IQ, with a score in the “low” range (standard score =62). Further, while Carter’s
Expressive Language (scaled score of 15) was “Adequate” compared to others his
age, his Receptive Language (scaled score of 8) was lower than expected, given his
IQ. Overall, it is not uncommon for children with this pattern of average or higher
verbal IQ despite significantly lower nonverbal IQ, and receptive language and
adaptive skill delays, to be misunderstood. For example, Carter’s strong verbal
skills and intellect could lead to the impression that he should be able to process
10
things at a pace that is faster than he is actually able to do. Subsequently, this could
have resulted in his teachers’ frustration with his apparent nonresponsiveness that
likely stemmed from a need for more support or time versus defiance.
Carter and his parents were both interviewed using the Autism Comorbidity
Interview to assess for the presence of other psychiatric disorders. While his
mother endorsed symptoms consistent with disruptive behavior disorders, when
probed further, it was clear that Carter’s oppositional behavior lacked intention-
ality. When followed up with a functional assessment of Carter’s oppositional and
aggressive behavior, it was clear that most problems occurred when Carter was
asked to do a task that he did not fully understand or when he was overwhelmed
socially. These reports were corroborated by the clinician’s direct observation of
Carter in the classroom which aimed to further characterize the antecedents,
consequences, and nature of Carter’s disruptive behavior. Further, although he
was often overly directive with peers, this was better conceptualized as related to
poor social reciprocity than to ODD. The clinician observed that Carter’s peers
frequently appeared to be annoyed by his behavior, but when following up with
Carter after these interactions, it was clear that he had little awareness of their
annoyance and that his behaviors were actually failed attempts to establish social
connections. This lack of awareness was consistent with his overall pattern of poor
emotional and self-awareness. Taken together, the prior diagnosis of ODD was
ruled out in favor of ASD as an explanation for his observed disruptive behaviors.
SUMMARY
In conclusion, while disruptive behaviors such as aggression, oppositionality, and

rule breaking are common in ASD, the presence of these behaviors is not always
indicative of a co-occurring ODD or CD diagnosis. Ambiguous symptom pre-
sentation and overlapping symptoms across ASD and ODD/CD complicate the
differential diagnostic process, and significant behavioral problems may mask the
presence of ASD, leading to a delay in receiving an ASD diagnosis. Although pro-
viders must use their best clinical judgement and carefully consider all available
information to arrive at final diagnoses, the current chapter summarized key dif-
ferential diagnostic considerations to assist in this process. We also provide a brief
sampling of questionnaires and interviews which can be used as a guide in the
differential diagnosis of ASD and ODD/CD. Nonetheless, there remains a scarcity
of measures for assessing disruptive behavioral problems that have been validated
or modified specifically for ASD populations, making this a vital area for further
research.
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105

Versus Anxiety Disorders
MIKLE SOUTH, ALEXIS BREWE,
CONNOR M. KERNS, AND SUSAN WHITE ■
BACKGROUND: ANXIETY AND AUTISM
Anxiety is the most frequently diagnosed mental condition for children and adults
(Buss & McDoniel, 2016; Kessler et al., 2012; Remes et al., 2016), with about one
in fourteen people in the world diagnosed with an anxiety disorder at any given
time (Baxter et al., 2013). The World Health Organization (WHO, 2017) reports
that anxiety disorders are ranked as the sixth largest contributor to nonfatal health
loss globally and appear in the top 10 causes of years lived with disability in all
WHO regions. Currently recognized subtypes of anxiety include generalized anx-
iety disorder, social anxiety disorder, separation anxiety disorder, specific phobia,
selective mutism, panic disorder, and agoraphobia.
Anxiety is especially problematic for children and adults diagnosed with au-
tism spectrum disorder, with prevalence rates at least five times higher than in the
general population (Nimmo-Smith et al., 2020; van Steensel & Heeman, 2017).
The prevalence rate for any anxiety disorder diagnosed alongside autism, using
Diagnostic and Statistical Manual of Mental Disorders (DSM) or International
Classification of Diseases (ICD) criteria, is at least 34% for children and adolescents
with autism (van Steensel et al., 2011) and 27% for adults with autism (Hollocks
et al., 2019). Such anxiety can cause substantial disruption of well-being and suc-
cess for individuals with autism and their families (South & Rodgers, 2017; White
et al., 2011).
Symptom overlap between autism and anxiety can complicate diagnosis of both
conditions (Maddox & White, 2015; Montazeri et al., 2019). Traits and behav-
iors frequently seen in autism, such as decreased social competence, social avoid-
ance, fewer friendships, and higher rates of peer rejection and bullying, are also
106
common in anxiety disorders (Alfano et al., 2011; Buss & McDoniel, 2016). The
inverse is likewise true: Some level of worry, especially in novel situations, is quite
common in individuals with autism. White et al. (2009) and others therefore rec-
ommend that an anxiety disorder should only be diagnosed alongside autism if
the level of anxiety significantly interferes with everyday functioning.
This symptom overlap means that anxiety disorders could be overdiagnosed in
autism (Mazefsky et al., 2012; Trammell et al., 2013). At the same time, atypical
worries often reported by children and adults with autism mean that anxiety is
likely more frequent in autism than that captured by traditional definitions (Kerns
et al., 2014, 2021). There is significant risk that an appropriate autism diagnosis
can be overshadowed by anxiety, while it is equally possible that an anxiety diag-
nosis can be overshadowed by autism traits (Crane et al., 2019). In either case, im-
portant treatment targets and challenges are missed. Thus, appropriate diagnosis
can be helpful for effective, ongoing treatment planning.
This chapter aims to serve as a tool to guide clinicians in the diagnostic process
through (1) providing an overview of commonalities and distinctions useful for
disambiguating anxiety from autism; (2) characterizing shared, transdiagnostic
risk processes and etiology which complicate differential diagnosis but also pro-
vide key targets for treatment; (3) summarizing tools for assessment and diag-
nosis; and (4) identifying evidence-based treatment approaches for anxiety in
people with autism. Collectively, these materials provide a roadmap for clinicians
to think about differential, and co-occurring, diagnosis of autism and anxiety.
Figure 6.1 highlights the interaction of general risk processes and autism-specific
processes that may underlie the co-occurrence of autism and anxiety.
AUTISM AND ANXIETY: CASE EXAMPLE
Olivia1 is a 9-year, 7-month-old girl who was evaluated by a neuropsychologist

2½ years before our evaluation and was diagnosed then with attention-deficit/
hyperactivity disorder (ADHD) and oppositional defiant disorder (ODD). The
neuropsychologist at that time told Olivia’s parents that it wasn’t necessary to do
an evaluation for autism because he believed that Olivia’s social skills were better
than typically seen in autism. Since that time, however, several mental health
counselors had asked Olivia’s parents if she had had an assessment for autism; a
psychiatrist at the university mental health clinic finally referred her for formal
autism evaluation.
Olivia’s parents report that Olivia “worries about everything,” including what
others think of her, her parents dying, and anything unexpected happening.
They also report that she tantrums about 30 minutes on most days, usually when
something doesn’t go according to plan. On the Screen for Child Anxiety Related
Disorders (SCARED; Birmaher et al., 1999) parent-report survey of anxiety traits,
1. Identifying details have been changed.

107
Autism Spectrum Disorder Versus Anxiety Disorders107
autism-specific
processes global risk
less flexible cognitive style, co-occurring processes
executive function autism and emotion dysregulation,
difficulties, intolerance of anxiety heightened physiological
uncertainty, sensory arousal
sensitivity
Figure 6.1. Autism-specific processes do not necessarily lead to anxiety, and global
processes may contribute risk for many outcomes, including anxiety or depression.
However, an interaction of global and autism-specific risk mechanisms may underlie a
markedly increased risk for anxiety in autism.
Olivia’s total score of 38 was well above the recommended cut score of 25 for clin-
ical concern, with elevated subscale scores for Social Anxiety, Separation Anxiety,
and School Avoidance. Scores from the Social Responsiveness Scale–2nd Edition
(SRS-2; Constantino & Gruber, 2012) parent-report survey of autism traits were
in the clinically significant range, though the evaluators were aware that high anx-
iety, especially social anxiety, can inflate SRS scores (South et al., 2017). Olivia
is very picky about textures and smells and sometimes won’t eat lunch at school
when she’s bothered by the smell of other children’s food. Olivia’s parents also
noted that until very recently she demonstrated some hand-flapping and shook
her arms up next to her chest in what her parents called “puppy dog arms” when
she was excited.
During the evaluation, Olivia was cheerful, energetic, and talkative. Olivia
seemed to have a restricted interest related to talking about her anxiety, frequently
reciting long lists of things she worries about. When asked about her friends, she
made another long list of more than 20 names that seemed to be people she knew
at school. Her nonverbal communication behaviors such as use of eye contact and
facial expressions were less frequent than expected for her age. When asked how
it feels to look people in the eye, she said “It’s like looking at a great white shark,
and I’m very afraid of sharks.” Olivia said that she often feels that she’s “faking it”
in her interactions with others, and that this takes a lot of effort. She had difficulty
talking about her role in her frequent tantrums. On the ADOS-2 observation of
autism traits, Olivia’s calibrated severity score of 4 put her in the mild range of
autism concern.
108
We gave two primary diagnoses: autism spectrum disorder (autism) based on

traits such as Olivia’s presentation of reduced use of nonverbal expressions, lim-
ited insight into the nature of social relationships, and intense, specific interests;
and generalized anxiety disorder based on traits such as persistent and diffuse
worries and difficulties with uncertainty. We also talked to Olivia’s parents about
many different “flavors” of anxiety that she experiences, such as difficulties separ-
ating from parents and frequent social anxiety related to her fear that others are
thinking about her critically. We retained the existing ADHD diagnosis due to
consistent reports and observations of inattention and restless hyperactivity, but
rejected her previous ODD diagnosis, concluding instead that much of Olivia’s
problematic behavior stems from out-of-control anxiety that leaves her feeling
almost constantly on edge.
DIFFERENCES ACCORDING TO FORMAL

DIAGNOSTIC SYSTEMS
How can clinicians tease apart this overlap between autism and anxiety? Several
studies with group data have shown that standard diagnostic measures for autism
(such as the Autism Diagnostic Interview-Revised or ADI-R; Lord et al., 1994;
and the Autism Diagnostic Observation Schedule or ADOS; Lord et al., 2000) are
independent of diagnostic measures for anxiety (Anderson et al., 2015; Montazeri
et al., 2019). Studies of dimensional measures of autism traits (such as the Autism
Quotient or AQ; Baron-Cohen et al., 2001) and anxiety often find more overlap,
although nonautistic but anxious groups may score significantly higher than au-
tism groups (Top Jr. et al., 2019).
A vital caveat to these studies is that group-level data may obscure individual
differences. Stadnick et al. (2015) looked at ADOS administration in commu-
nity health clinics and found that 30% of children were “false positives” on the
ADOS, with anxiety or ADHD as the most frequent alternate diagnosis. South
et al. (2017) found that about one half of a nonautistic but highly anxious group
of adults scored in the mild range of concern for autism or higher on the SRS-2.
Smith et al. (2019) found that children who are not referred for an autism evalu-
ation, but actually meet diagnostic criteria for autism, often have anxiety symp-
toms which prompted the referral. As with any complex diagnostic evaluation,
clinicians should rely on multiple sources of information and be thoughtful about
relying too much on recommended cut-scores for any one measure.
Formal Diagnostic Criteria. As should be the case, people who have autism are
more severely affected across the three behavioral clusters of the autism social
communication domain of the DSM-5, relative to people who have anxiety and not
autism. For example, nonverbal communication behaviors such as using eye con-
tact during conversation may be reduced in either autism or anxiety, but people
with a primary diagnosis of anxiety will often “warm up” over time and as they
become more comfortable with the situation will demonstrate more eye contact
and other nonverbal social behaviors.
109
The Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-
5; (American Psychiatric Association, 2013) establishes difficulties in “developing,
maintaining, and understanding relationships” as a core trait of autism. Such be-
havior can also be seen to a lesser extent in anxiety disorders. For example, fears
related to being judged by others may reduce social motivation in social anx-
iety, which is associated with decreased social competence and fewer friendships.
Children with generalized anxiety tend to show age-expected social competence
and have high-quality friendships, but have fewer friends overall than nonanxious
peers (Alfano et al., 2011).
Social motivation in autism is variable: Some people with autism have little
desire to interact with others and are rarely bothered by having few or no close
friends. Conversely, high social motivation in autism is more likely to be part of
a negative feedback loop in which problematic interactions with others increase
anxiety, feelings of anxiety disrupt decision-making (including social decision-
making), and social difficulties worsen. Importantly, this seems to be true for
people with social difficulties generally (Pickard et al., 2017) as well as those with
social anxiety disorder (Beck et al., in press; South et al., 2020).
However, social behavior in autism is qualitatively different and quantitatively
more impaired compared to social anxiety.
The restricted and repetitive behaviors and interests (RRBIs) domain of the DSM-
5 definition of autism is especially heterogeneous in both quality and quantity of
demonstrated behaviors. Network analysis of ADOS items for 126 verbal children
with autism has shown high degrees of clustering of items in the ADOS social
domain, but only weakly interrelated relationships for items from the repetitive
behaviors/restricted interest domain (Anderson et al., 2015). Repetitive behav-
iors similar to those seen in autism can be seen in nonhuman primates and other
animal species (Lutz, 2014), to a mild degree in younger children (especially for
repetitive or echoed speech), and in other neurodevelopmental conditions (such
as Down syndrome; Glenn, 2017). Nonetheless, early and intense manifestations
of RRBIs may be among the earliest behavioral markers of later autism diagnosis
(Damiano et al., 2013; Elison et al., 2014; Wolff et al., 2019).
RRBIs may be qualitatively characterized as “low level” (e.g., stereotyped
movements or use of objects) that might be more common in younger or less
verbal individuals, vis-á-vis “high level” (e.g., insistence on sameness or intense
special interests) that might occur in older and/or more verbal people (Prior &
Macmillan, 1973; Turner, 1999). Distinctions in these categories may contribute
to anxiety in autism via different mechanisms (Wigham et al., 2015). Higher level
repetitive behaviors seem closest to the types of narrow or rigid thinking and be-
havior seen in anxiety and related conditions, such as cognitive inflexibility and
obsessive-compulsive traits (Morris & Mansell, 2018). Indeed, measures of “in-
sistence on sameness” (IS) have shown stronger correlations with anxiety than
other RRBI categories. In a large (n =1429) study of data on children and ado-
lescents with autism from the Simons Simplex genetics database, Gotham et al.
(2013) found weak but statistically significant associations between anxiety scores
from the Child Behavior Checklist (Achenbach & Edelbrock, 1983) and the six
10
“insistence on sameness” items from the ADI-R. Rodgers et al. (2012) looked at
a group of 67 young people (mean age =11.2) diagnosed with autism and found
that highly anxious children had more overall RRBIs than nonanxious ones and
that, within the high-anxiety group, IS was most associated with anxiety scores.
There is evidence from both autism and anxiety samples that IS serves to reg-
ulate anxiety, by increasing predictability and control over the environment.
Outside of IS, however, fewer RRBIs that are common in autism overlap with
anxiety. Occasional stimming such as hand-flapping may be seen in anxious chil-
dren especially when younger, but not to the same degree as in autism. An intense
preference for talking and thinking about narrow special interests that interferes
with typical conversation or activities is more likely to happen in autism; although
worry about performing well in a high-pressure situation could constrain conver-
sational flexibility for anxious persons, this is less likely in typical, lower-pressure
situations. Additionally, the presence of RRBIs in a person with autism may stem
from anxiety (South & Rodgers, 2017; Wigham et al., 2015), suggesting that anx-
iety treatment may increase flexibility and reduce potentially disruptive RRBIs.
Historically, RRBIs have been viewed as pathological. There is no question that
RRBIs can disrupt everyday functioning as well as interfere with family members,
peers, and others. However, survey research and input from people with autism
themselves have shown that RRBIs can also be adaptive, especially as a way for
coping with feelings of physiological arousal and anxiety (Leekam et al., 2011;
Uljarević et al., 2016). The pursuit of special interests can provide meaning and
motivation and provide windows to connect with others (with or without autism)
who share similar interests. Increasing flexibility when needed can be helpful for
people with autism to navigate their worlds more easily, but forcing people with
autism to give up their preference for sameness or repetitive activities is not re-
commended and is nearly always futile.
SHARED FACTORS FOR ANXIETY AND AUTISM
Research suggests that challenges related to differential diagnosis may be in part

due to shared transdiagnostic factors involved in the expression of autism and
anxiety symptoms. In this section we consider how three such transdiagnostic
factors may increase risk for the development of a comorbid anxiety disorder in
a person with autism, and impact diagnosis of autism or anxiety separately or
together, including (1) emotion regulation; (2) intolerance of uncertainty; and
(3) sensory sensitivity. Emotion regulation may be viewed as a more general pro-
cess that is affected by many underlying factors including intolerance of uncer-
tainty (IU) and sensory sensitivity (SS). Each of the concepts may also serve as
a proximal risk factor for other problematic behaviors such as aggression, irrita-
bility, and self-injury.
Emotion Regulation. Emotion regulation is defined as the capacity to manage
emotions to achieve specific goals through monitoring and modulation of emo-
tional responses (Gross, 2002). Effective emotion regulation requires awareness
1
of emotional states in self and others, with modulation of physiological, cognitive,

and behavioral reactions to best match the context and achieve future goals.
Effective coping strategies help frame the situation accurately and can in-
clude reappraisal, such as finding a different, more positive way to think about a
stressful event or interaction. Maladaptive strategies can include suppression, that
is, inhibiting emotional expression when facing a stressful event or interaction.
Research across all age ranges suggests that difficulties with emotion regulation
can contribute to anxiety (Garnefski & Kraaij, 2018; Jazaieri et al., 2013; Klemanski
et al., 2017; Rutter et al., 2019; Schneider et al., 2018). Anxiety is uniquely char-
acterized by cognitive overestimation of threats and harm (Garnefski & Kraaij,
2018), and reduced emotional competence predicts several subtypes of anxiety
(Rutter et al., 2019; Schneider et al., 2018). Seminal papers by Mazefsky and White
and colleagues (Mazefsky et al., 2013; White et al., 2014) have likewise highlighted
how emotion regulation difficulties in autism contribute to behavioral and mental
health concerns, including anxiety. Children and adults with autism tend to use
fewer adaptive strategies (such as reappraisal) and more maladaptive strategies
(such as avoidance) (Samson et al., 2015).
There is growing evidence of links between emotion regulation and anxiety in
autism across the lifespan. Samson et al. (2015) interviewed a parent or caregiver
of 31 children and young adults (ages 8–20) about their child’s emotional experi-
ence of two negative (anger, anxiety) and one positive (amusement) emotion. The
autism group reportedly experienced more anger and anxiety but less amusement
than a comparison group of neurotypical individuals, and they showed markedly
less use of strategies to regulate each emotion. Daily diaries collected for each
participant showed similar profiles of emotion regulation differences. In a large
(n =151) cross-national sample of adults with and without autism, dimensional
analysis using structural equation modeling found that autism symptoms directly
predicted reduced emotional awareness (alexithymia) and emotional acceptance
(mindfulness) and increased intolerance of uncertainty; emotion awareness and
acceptance in turn predicted 64% of the association between autism traits and
anxiety symptoms (Maisel et al., 2016).
Mazefsky et al. (2013) highlight possible autism traits that could uniquely affect
the ability to utilize specific emotion strategies, for example how a rigid cogni-
tive style could limit cognitive reappraisal approaches. However, cognitive inflex-
ibility is likewise associated with anxiety in nonautistic human samples as well
as in other animal species (Mărcuş et al., 2016; Park & Moghaddam, 2017; Shiba
et al., 2016; Wiltgen et al., 2018). The recent development of a measure of emotion
dysregulation that is valid for autism, without bias for verbal or intellectual ability,
is a critical step for future emotion regulation research in autism (Mazefsky et al.,
2018). Ongoing research continues to investigate the contributions of reduced
flexibility and executive function to emotion dysregulation in autism (see Cai
et al., 2018, for a recent review).
Intolerance of Uncertainty. Another transdiagnostic risk factor for anxiety in
autism is IU, defined as excessively negative emotional, cognitive, and behavioral
reactions to ambiguous or uncertain situations (Buhr & Dugas, 2002; Carleton
12
et al., 2012). The construct of IU was first proposed as a key contributor to the
overwhelming worry that defines generalized anxiety disorder.
Conceptually, worry serves as a cognitive distractor from the emotional fear of
uncertainty and is thus maintained through negative reinforcement, while also
providing some semblance of control by planning for any sort of uncertainty.
Grupe and Nitschke (2013) characterize neural processes that contribute to antic-
ipation of uncertainty and drive subsequent anxiety.
More recently, IU has been shown to be an important contributor to other anx-
iety diagnoses (such as social phobia) and for depression (Carleton et al., 2012;
Einstein, 2014). For example, Boswell and colleagues (Boswell et al., 2013) re-
ported outcomes from 32 adults who completed between 8 and 18 sessions of an
emotion-focused cognitive-behavioral therapy (CBT) meant to treat both anxiety
and unipolar mood disorders. Before treatment, IU was correlated both with se-
verity of depressive and worry symptoms. Post-treatment change in IU was related
to reduced anxiety and depressive symptom levels across diagnostic categories.
Drawing on emerging evidence from both child and adult autism samples,
Rodgers and South and colleagues have proposed that IU functions as a crit-
ical mediator between autism traits and anxiety symptoms (Boulter et al., 2014;
Chamberlain et al., 2013; South & Rodgers, 2017; Wigham et al., 2015). People
with autism may frequently experience a number of cognitive, social, and emo-
tional factors that contribute to uncertainty, such as atypical sensory processing,
difficulties understanding emotional cues, and confusing social situations. IU in
autism may be heightened by the sheer volume of less certain situations encoun-
tered in everyday life. Reaction to such persistent uncertainty may drive elevated
rates of anxiety in autism; repetitive behaviors that are common in autism may
serve to increase predictability and thereby reduce uncertainty.
While IU can underlie cognitive, emotional, and behavioral aspects of both
anxiety and autism, it is important to consider on an individual basis whether IU
may contribute to more specific traits (e.g., behavioral rigidity in autism or fear
of negative evaluation in social anxiety). A new measure of IU developed and
validated for autism may provide a clearer picture of similarities and differences
between anxiety in autism and anxiety outside of autism (Rodgers et al., 2016). In
the meantime, we recommend explicit attention to IU in the treatment of anxiety
in autism.
Sensory Sensitivity. Atypical sensory behavior has long been associated with
autism spectrum conditions (Ben-Sasson et al., 2008; Crane et al., 2009) but
only became integrated into the formal diagnostic criteria in DSM-5 (American
Psychiatric Association, 2013). Using the Short Sensory profile (SSP; Tomchek
& Dunn, 2007)) and items from the ADI-R, Green and colleagues (2016) char-
acterized sensory difficulties in diverse children 10–14 years old, including 116
children diagnosed with autism and 72 children with special educational needs
(SEN) but not autism. They found atypical sensory behaviors in 92% of the au-
tism sample and 67% of SEN children. Apropos to the emotion regulation and
intolerance of uncertainty models of anxiety, challenging sensory behavior was
associated with higher levels of emotion dysregulation and with restricted and
repetitive behaviors on parent and teacher questionnaires. Significant challenges
13
that arise from both sensory over-and under-responsiveness in autism, which

may include extreme discomfort, pain, and difficulty in focusing, should not be
overlooked (Simmons, 2019).
Atypical sensory processing is a common thread between the emotion regula-
tion and intolerance of uncertainty models of anxiety in autism discussed above.
White et al. (2014) suggest several possibilities linking sensory processing and anx-
iety within an emotion regulation framework. For instance, sensory hyperarousal
experienced by some individuals with autism may underlie hypervigilance about
the environment accompanied by altered attention and affect regulation patterns
(Green & Wood, 2019); or a third factor, such as functional differences in brain
regions related to emotion regulation (such as atypical amygdala response to fear;
see also Top Jr. et al., 2016) that simultaneously affect sensory processing and anx-
iety. Indeed, functional magnetic resonance imaging (fMRI) studies of exposure
to mildly aversive auditory and visual stimuli show that the autism group show
greater brain activation not only in sensory processing areas but also in regions
that are critical for emotion regulation (e.g., amygdala, hippocampus, prefrontal
cortex) (Green et al., 2013, 2015). Higher sensory over-responsivity in autism was
associated with decreased neural habituation in sensory processing cortices and
amygdala and seemed to disrupt amygdala downregulation that is important for
effective emotion regulation.
South and Rodgers (2017; see related ideas in Pellicano & Burr, 2012; Simmons,
2019) suggest that variable or noisy sensory inputs make interpretation of sensory
cues ambiguous, which is one contributor to elevated intolerance of uncertainty
in autism, and that IU underlies both anxiety and preferences for restricted, re-
petitive behavior. In a cross-national sample of 53 children with autism ages 8–
16 years, Wigham et al. (2015) found that IU and anxiety mediated relationships
between sensory over-responsiveness and under-responsiveness with restricted
and repetitive behaviors. In an alternate look at these relationships, Neil et al.
(2016) studied 64 children with autism ages 6–14 and a comparison group of 85
neurotypical children. They found that IU and anxiety together explained nearly
50% of the variance in sensory sensitivities for the autism group and about 20%
of the variance for the neurotypical group. After adjusting for trait anxiety, IU
remained a significant predictor of sensory sensitivities in the autism but not the
neurotypical group.
Nonetheless, specificity for use in differential diagnosis is not straightforward.
While Neil et al. (2016) showed that relationships among sensory sensitivity, IU,
and anxiety were stronger in the autism group, these relationships were also sig-
nificant in the neurotypical comparison samples. In a study of 201 university-
age students not sampled for autism, several factors related to sensory sensitivity
were associated with autism traits and anxiety but also with emotion recogni-
tion difficulties (alexithymia) and depression (Liss et al., 2008). A recent study
of a transdiagnostic (largely depression and anxiety) clinical sample of adults
(n =231) suggests that sensory processing difficulties in childhood persist into
adulthood and undermine effective emotion regulation, which confers vulnera-
bility for anxiety (McMahon et al., 2019). Harrison et al. (2019) argue that sensory
processing is so important to mental health generally that the next iteration of the
14
National Institutes of Health Research Domain Criteria (RDoc), which added a

sensorimotor domain in 2019, should expand a separate sensation and percep-
tion domain. A vital area for exploration, highlighted by Green et al. (2016), is
the overlap of sensory processing challenges in samples with neurodevelopmental
concerns generally, not specifically for autism.
Direct measures of sensory processing behavior in young children (such as the
Sensory Processing-Three Dimensions: Assessment; Mulligan et al., 2019) will
be helpful for more careful characterization of autism vis-à-vis anxiety; similar
measures for adults would likewise be useful.
Heightened Psychophysiological Arousal. Some of the earliest research suggested
that autistic children are “in a chronically high state of physiological arousal”
(S. J. Hutt et al., 1965, p. 181; see also C. Hutt et al., 1964). More recent studies
have confirmed that autism groups ranging in age from toddlers to adults are
frequently more physiologically reactive to lab- based task stimuli than are
nonautistic comparison groups (Hollocks et al., 2016; Parma et al., n.d.; Prince
et al., 2017). Top Jr. et al. (2019) found increased pupil size at baseline which
persisted throughout the task, compared to a clinical group of highly anxious in-
dividuals. Recent conceptualizations of physiological arousal in autism (Parma
et al., in press; Top Jr. et al., 2019) harmonize with work in anxiety disorders (see
review in Hoehn-Saric & McLeod, 2000) that physiological inflexibility may be
most disrupted, which sometimes manifests as overarousal but more generally is
a response that doesn’t quite match the situation. Importantly, research in anx-
iety that shows how perceived arousal (e.g., in response to threatening images)
is elevated even when physiological measures are not (Rosebrock et al., 2016) is
likely relevant for autism. Altered actual or perceived physiological arousal may
interfere with learning and decision-making in everyday life (Luke et al., 2012;
Miu et al., 2008; South et al., 2014), in social situations (Bellini, 2004; Wu et al.,
2013), and with the process of psychotherapy (Arkowitz & Westra, 2004; Boswell
et al., 2012). News stories, social media, and ongoing research have highlighted
therapists who customize their practice for autism by emphasizing routines in
their therapeutic process and building calming office settings that minimize po-
tential sensory triggers (Cooper et al., 2018). Research on the added efficacy of
such therapies is needed. New data collection and analysis techniques such as
ecological momentary assessment can move a bit beyond lab-based measures by
collecting daily reports and some physiology from less obtrusive actigraphy and
physiology measures, over long periods of time. This research will help clarify
similarities and differences in anxious experience in and out of autism and pro-
vide clues for more effective interventions for anxiety.
CAMOUFLAGING IN AUTISM
Our case example Olivia deliberately makes eye contact in conversation despite
the discomfort this brings. There is increasing awareness in research and clinical
practice that many verbal children and adults with autism will mask underlying
15
confusion about social expectations through intentional and effortful recital of

socially normative behaviors, such as making eye contact or asking questions
of their conversational partner. Such interactions may be scripted or rehearsed.
With practice, many older children and adults with autism become quite good
at “pretending to be normal” and can create outwardly successful interactions at
least for some time. We tend to see, however, that as a conversation progresses and
energy breaks down due to the effort that camouflaging requires, the conversation
breaks down.
Recent research with a variety of samples (neurotypical, autism, social anxiety)
has shown drastic mental health consequences for people who camouflage autism
traits, including depression, anxiety, suicidality, and overall decreased quality of
life (Bargiela et al., 2016; Cage & Troxell-Whitman, 2019; Cassidy et al., 2020;
Hull et al., 2020). We repeatedly hear from clients how exhausting it is to ex-
pend so much effort on masking autism traits; as one woman told us, “I have to
choose one social situation a week, then spend the rest of the week in my base-
ment playing video games to recover.” It seems that girls and women are more
likely to camouflage than men. Notably, Beck et al. (in press) found similar rates
of camouflaging, and associated mental health difficulties, in women with autism
and women with social difficulties but not autism, primarily social anxiety. Girls
and women likely benefit from extra consideration when diagnosing autism, anx-
iety, or both. Often, simply asking people about their camouflaging experiences
will yield useful insight.
DEVELOPMENTAL CONSIDERATIONS
As clinicians attempt to discriminate whether symptoms are reflective of au-

tism, anxiety, or both, there are several developmental issues to consider that
may influence an individual’s symptom profile. Specific characteristics include an
individual’s age, sex, and cognitive abilities.
Age Considerations. Although anxiety symptoms generally appear in adoles-
cence, onset of specific anxiety disorders (i.e., separation anxiety disorder, spe-
cific phobia, and social anxiety disorder) may be seen frequently in childhood
(Lijster et al., 2017). Younger children with these anxiety symptoms may display
autism-like symptoms that are self-soothing, such as RRBIs, although not to the
extent of children with autism. Likewise, autism traits are generally observable
by age 3. Although there can be a lag in autism diagnosis due to a myriad of fac-
tors including co-occurring health conditions, parental concerns over symptoms,
and the family’s geographical location (Daniels & Mandell, 2014), retrospective
parent interviews about social development in early life can be useful for differen-
tial diagnosis. Zwaigenbaum et al. (2016) suggest that children with fewer autism
traits are also more likely to be diagnosed later in childhood, and we frequently
diagnose autism in adolescents and adults whose milder presentation has led to
underdiagnosis. However, this milder presentation poses an interesting challenge
for clinicians. Autism symptoms can become less severe over time (Howlin &
16
Magiati, 2017), and adolescents or adults who seek an autism evaluation later in
life often have abilities (e.g., cognitive or general social skill) that protected them
from a diagnosis earlier in life.
Sex Considerations. Autism is diagnosed at a much higher rate in males than fe-
males, with approximately three males being diagnosed for every female (Loomes
et al., 2017). While some researchers have argued that there may be something
inherent in females that protects them from developing autism at the same rate
as males, others propose that our low estimate of autism traits in females reflects
a different presentation of autism symptoms than males (Hull et al., 2020). As
mentioned previously in the chapter, it may be that, in the absence of intellectual
or behavioral problems, girls are able to camouflage their symptoms more effec-
tively (Dworzynski et al., 2012). In addition, characteristics of the female autism
phenotype often seem to include a limited ability to maintain social relationships
and increased relational interests compared to males (Hull et al., 2020). Females
also appear to experience a high rate of internalizing symptoms, particularly co-
occurring anxiety, that can mask their subtler autism symptoms and often result
in an anxiety diagnosis only (Bargiela et al., 2016; Crane et al., 2019; Gotham
et al., 2015; South et al., 2020). Thus, differential diagnosis for females provides a
unique challenge for clinicians as it necessitates careful consideration of atypical
presentations of autism and overlapping anxiety symptomatology.
Cognitive Ability Considerations. Generally, individuals with low cognitive abil-
ities or intellectual disability can display symptoms commonly associated with
autism, such as repetitive motor movements or speech, limited sharing of affect,
or reduced language abilities, which are important to consider when evaluating
symptoms. There is a dearth of literature on how cognitive ability may influence
the prevalence and presentation of anxiety. A review by Reardon and colleagues
(Reardon et al., 2015) found that individuals with intellectual disability are more
likely to experience specific anxiety disorders like separation anxiety disorder or
specific phobia, rather than disorders like generalized anxiety disorder that re-
quire more cognitive and verbal ability to verbalize worries and fears. Kerns et al.
(2021) reported a similar pattern in children (ages 9–13 years) with anxiety dis-
order and varied intellectual abilities. Whereas a wide array for DSM-specified as
well as distinct anxiety symptoms (e.g., fears related to change, social confusion,
or loss of access to special interest) were apparent in children with higher IQ, the
presentation of anxiety in children with IQ < 70 was predominantly limited to
specific phobias and distinct fears. A study by Sudhodolsky et al. (2008) examined
specific differences in rates of anxiety related to cognitive ability using a sample
of individuals with autism. For individuals with autism, they similarly found that
cognitive ability may be more associated with specific anxiety disorders, rather
than severity of symptoms; specifically, individuals with high-functioning autism
experienced higher rates of generalized anxiety, separation anxiety, and panic dis-
order, whereas rates of specific phobia and social anxiety were relatively similar
for individuals with high-functioning or low-functioning autism. Consequently,
consideration of assessment tools that measure anxiety is important, as individ-
uals with intellectual disability may have more nonverbal behaviors related to
17
their fears and limited ability to verbally describe worries than individuals who
are higher functioning.
ASSESSMENT CONSIDERATIONS
FOR DIFFERENTIAL DIAGNOSIS
As described above, differentiating anxiety and autism symptoms is far from

straightforward due to numerous areas of symptom overlap and variations in the
expression of anxiety disorders in individuals with autism (Kerns, Rump, et al.,
2016; Kerns, Wood, et al., 2016; Vasa et al., 2016). Accordingly, measures designed
to assess anxiety symptoms in those without autism should be used cautiously
and with an abundance of other converging evidence and clinical judgment when
autism is suspected. For example, several studies have found that syndromes
of anxiety may not be equivalent or relate to one another in the same way in
children with autism as in anxious children without autism (Glod et al., 2017;
Jitlina et al., 2017; Magiati et al., 2017; White et al., 2015), particularly in individ-
uals with varied intellectual abilities (Dovgan et al., 2019). Relatedly, clinicians
should be wary about relying on cutoff scores designed to help identify individ-
uals whose anxiety is meaningfully elevated relative to their peers. Some studies
have found that such cutoff scores may result in a higher rate of false negatives or
missed cases in non-treatment-seeking children with autism (Kerns et al., 2021;
Kerns, Rump, et al., 2016), while others have also found a higher rate of false
positives (Carruthers et al., 2020). Research suggests that false negatives may be
less common when these measures are used in children with autism referred for
anxiety treatment (Stern et al., 2014; van Steensel et al., 2013). Notably, there is a
dearth of evidence regarding the properties of adult anxiety measures for autism
(Hollocks et al., 2019).
At present, the data suggest that unadapted anxiety measures may help con-
firm problematic anxiety within a multimethod and multi-informant assessment
of a child with suspected autism. However, these measures may not be ideal as
singular screening tools, given their reduced ability to capture variations in the
expression of anxiety that can go along with intellectual disability and/or an au-
tism diagnosis. Overall, it is critical to integrate the results of standard anxiety
measures with clinical interviewing and observation and use clinical judgment
when assessing a child with suspected anxiety and/or autism. Moreover, what is
considered an “elevated” level of anxiety on these measures may be somewhat
dependent on the question at hand—whether it be screening for further evalua-
tion (for which even a slight elevation may warrant follow-up) or confirmation of
anxiety disorder (where a higher score and converging indications of risk would
be warranted).
Notably, self-report measures may not be feasible to collect from some indi-
viduals, such as those with limited language abilities. In such cases, gathering
data from multiple informants in addition to behavioral observation is advis-
able. However, given that an increasing percentage of those with autism do not
18
present with intellectual impairment, self-report measures can and should be in-
tegrated into assessments where possible to shed light on symptoms that may not
be easily observable to others and gauge the individual’s level of insight into their
own symptoms. Though several studies have found limited agreement between
self and informant reports of anxiety in children with autism, it is not clear that
these discrepancies are more pronounced than those also seen in typically de-
veloping youth; moreover, levels of parent/child agreement regarding symptoms
may be relevant to child outcomes and treatment engagement (Burrows et al.,
2018; Hurtig et al., 2009; Magiati et al., 2014).
Tools designed specifically to assess anxiety symptoms in autism may also pro-
vide useful information in cases where an autism diagnosis is being considered.
These tools were developed specifically to capture the varied expression of anx-
iety in children with autism and thus may provide (a) an additional indication of
potential autism if many autism-related or distinct anxieties are present and (b) a
more comprehensive estimate of anxiety challenges in a child with autism or re-
lated difficulties. The Anxiety Scale for Children—Autism Spectrum Disorder, self
and caregiver-report (ASC-ASD; Rodgers, Wigham, et al., 2016) and Parent Rated
Anxiety Scale for youth with autism (PRAS-ASD; Scahill et al., 2019) are brief
scales of anxiety in autism that may be useful to gather an overall estimate of anx-
iety symptoms and severity. For a more comprehensive examination, the Anxiety
Disorders Interview Schedule— Child/Parent Version (ADIS- C/
P; Albano &
Silverman, 1996) is a gold-standard, semistructured diagnostic interview for as-
sessing childhood anxiety disorders that has shown strong psychometric prop-
erties for cognitively able youth with autism (Ung et al., 2014). In addition, an
Autism Spectrum Addendum to the ADIS-Parent Version, has been developed
by Kerns et al. (2014, 2017) and can be used when autism is suspected to help
clinicians differentiate potentially overlapping anxiety and autism symptoms (e.g.,
social avoidance, perseverative thinking) and assess distinct or “other specified”
presentations of anxiety that arise in children with autism but do not correspond
with DSM-defined anxiety disorders. Finally, it is essential for clinicians to spend
adequate time with clients, including time in less structured social situations; we
have found, for example, that highly structured testing situations such as a stand-
ardized IQ test do not provide enough opportunity to evaluate social interactions
(Scahill & Evans, 2020).
TREATMENT IMPLICATIONS
Although treatment is not the focus of the chapter, and this section does not serve
as a comprehensive review, there are several implications for psychotherapy, given
the significant overlap between anxiety and autism.
First-line treatments for anxiety are generally considered to be CBT, medication
(usually antidepressants such as selective serotonin reuptake inhibitor [SSRIs]),
or a combination of both, given the large amount of efficacy trials for both chil-
dren and adults (Mayo-Wilson et al., 2014; Wang et al., 2017). Clinical trials have
19
demonstrated efficacy in adapting CBT using a variety of modalities (e.g., indi-

vidual, group, or modular CBT) to treat co-occurring anxiety for youth with au-
tism (Ung et al., 2015; Wood et al., 2019). Mindfulness-based interventions that
teach awareness and acceptance of negative emotions, rather than avoidance or
suppression, also have preliminary support for treating anxiety in autism sam-
ples (Gaigg et al., 2020; Maisel et al., 2019; Spek et al., 2013); however, additional
randomized clinical trials are needed before determining whether mindfulness-
based approaches are as efficacious in treating co-occurring anxiety in autism.
Although many of these treatment approaches and adaptations may also be bene-
ficial for adults with autism, research with this age group has largely been lacking
(Kerns, Roux, et al., 2016). A review of behavioral interventions for children with
autism accompanied by lower intellectual and cognitive performance shows evi-
dence that desensitization and reinforcement are efficacious for reducing anxiety,
with some promise for the use of prompting, modeling, and anti-anxiety stimuli
(Rosen et al., 2016). Research into the efficacy of SSRIs as a treatment for anxiety
in autism spectrum disorder remains limited (Zaboski & Storch, 2018).
One important consequence of research identifying specific transdiagnostic
mechanisms (e.g., emotion dysregulation) in autism and nonautism populations
is that treatments targeting those mechanisms may work well for both autism
and nonautism populations (Bruggink et al., 2016). While measures of emotion
dysregulation may not be effective for diagnostically separating anxiety and au-
tism, manualized treatments for emotion dysregulation that were adapted for
verbal adolescents with autism have been identified as simultaneously feasible,
acceptable to clients, and effective at reducing dysregulation (Conner et al., 2019;
see also Weiss et al., 2018).
Similarly, Keefer et al. (2016) found that IU moderated outcomes in a modified
CBT treatment for anxiety in young children with autism, such that higher levels
of IU at baseline were associated with higher scores on anxiety and worry meas-
ures both before and after intervention. They suggest that specifically targeting
IU may improve treatment outcomes for youth with autism and anxiety. Building
on this, Rodgers and colleagues (Rodgers et al., 2016, 2019) have been actively
developing intervention programs for both children and adults with autism that
focus on IU as the essential therapeutic goal. The program includes among other
steps: psychoeducation about IU, anxiety, and autism and how they may work to-
gether; strategies for identifying anxious thoughts; and behavioral techniques to
increase tolerance of uncertainty. These interventions have shown early evidence
for feasibility, tolerability, and treatment efficacy. Overall, the evidence to date
shows that dealing head on with IU is at least as important for treatment of anx-
iety in autism as in nonautism contexts.
There are other important factors for clinicians to consider in treatment with
individuals diagnosed with autism, particularly if adapting an existing evidence-
based intervention. Helpful adaptations for autism may include reduced session
lengths, increased parent involvement in therapy, incorporation of special inter-
ests and concrete examples, or increased use of visuals and structure that have led
to successful outcomes in treatment (Conner et al., 2019; Weiss et al., 2018; White
120
et al., 2018). As with diagnostic assessment, it is also important to consider de-

velopmental issues when selecting treatments for anxiety or autism, including the
client’s age, gender, and cognitive ability, to maximize the efficacy of the treatment.
SUMMARY AND FUTURE CONSIDERATIONS
In this chapter, we have summarized research on the co-occurrence of anxiety in

autism, including evidence-based assessment and treatment approaches and mul-
tilevel processes that influence risk for comorbidity. Figure 6.2 provides a sum-
mary of distinct and overlapping processes useful for conceptualizing differential
diagnosis of autism and anxiety. Herein, we summarize this work and offer sug-
gestions for future research in this area, followed by evidence-based guidelines for
clinical care of people with autism and co-occurring anxiety. With few exceptions,
control (often termed “typically developing”) groups in most autism studies are
comprised of similar-age individuals without autism, but unless the focus of the
study is anxiety specifically, it is uncommon for anxiety to be assessed in either
the probands (those with autism) or the control group. Such an approach makes
the fundamental assumption that co-occurring anxiety (in autism) or the pres-
ence of anxiety in the nonautistic group has no influence on the primary research
question. Given the pervasiveness of anxiety in autism, it is imperative for future
studies to assess anxiety in autism samples, even when anxiety is not the focus of
the research question, as emerging research suggests that co-occurring anxiety
can influence a range of behaviors and traits (e.g., social motivation).
We must also directly compare autism-and anxiety-enriched samples to disen-
tangle the two conditions neurobiologically and phenotypically, while recognizing
that some processes are indeed shared (South et al., 2017; Top Jr. et al., 2019).
Increasingly, studies of autism samples are dividing or characterizing the sample
based on mental health profiles, including level of anxiety or depression (Gotham
et al., 2018; Herrington et al., 2017). We applaud these efforts and recognize that
doing so calls for considerable methodological rigor, as this approach will help us
advance our understanding of autism and its disambiguation from, and interface
with, anxiety. Additionally, to truly understand the influence of development and
eventually causation, we must engage in more prospective longitudinal research.
This will require large and heterogeneous samples to permit examination of the
processes that contribute to emergence of anxiety and to understand gender dif-
ferences in both etiology and expression of co-occurring anxiety.
Clinically, development of anxiety in a person with autism is usually multiply
determined (i.e., no singular cause), and etiology likely differs from person to
person on the spectrum. We have described several transdiagnostic processes
underlying emergence and maintenance of anxiety, including impaired emotion
regulation, insistence on sameness, and sensory sensitivities. Given the heteroge-
neity involved, understanding the process(es) underlying anxiety should inform
treatment planning. In other words, in treating anxiety in a person with autism,
clinicians are encouraged to adopt evidence-based treatments, such as CBT, while
12
Autism Diagnostic Traits Anxiety Diagnostic Traits Shared Traits
Repetitive Motor Ego-Dystonic Repetitive Emotion Dysregulation

Movements Thoughts/Worries
Intolerance of
Reduced Eye Contact Later Onset (2+) Uncertainty
Important
Social Avoidance Sensory Sensitivity Treatment
Context-Dependent Targets
Physiological Distress
Fewer Friendships Elevated Physiological

Arousal
Anxious Cognitions (e.g.,
Fear of Negative Evaluation)
Less Cognitive and
Behavioral Flexibility
Autism Anxiety
Figure 6.2. Conceptual representation of the overlap of core diagnostic traits and shared traits for autism and anxiety
disorders. More white represents likely association with autism, while more black represents association with anxiety. Note
that these are theoretical representations only and are not based on actual data.
12
adapting the approach and giving considerable attention to related, perhaps

causal, processes. For instance, one client may experience difficulty with anx-
iety primarily due to aversion to social discourse and discomfort interacting with
others, whereas another client might crave a higher level of social interaction yet
become emotionally overwhelmed when trying to engage with peers. It is widely
appreciated that accurate diagnosis of co-occurring anxiety disorders in people
with autism is complex, due in part to symptom overlap. We encourage clinicians
to place emphasis on the degree of impairment owed specifically to the anxiety,
duration of the problem/impairment, and change from baseline functioning and
behavior, in determining if a comorbid diagnosis of an anxiety disorder is war-
ranted. This is, in part, due to the sometimes qualitatively atypical ways that anx-
iety can present in people on the spectrum.
In closing, anxiety is one of the most common, and most difficult to diagnose,
co-occurring problems in people with autism. Fortunately, we now have the ben-
efit of a considerable body of research providing guidance on evidence-based
assessment and treatment. It is conceivable that we will have a more nuanced
understanding of its developmental origins, pathogenesis, and maintaining pro-
cesses soon, given the pace of research in this area.
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Major Depressive Disorder
K AT H E R I N E K . M . S TAV R O P O U L O S , YA S A M I N B O L O U R I A N ,
A N D K AT H E R I N E G O T H A M ■
INTRODUCTION
Major depressive disorder (MDD) is a chronic mood disorder characterized by

at least 2 weeks with symptoms such as depressed mood, loss of pleasure/interest
in previously enjoyed activities, weight loss or gain, changes in sleep patterns,
excessive guilt, and recurrent thoughts of death or suicide (American Psychiatric
Association, 2013). Under the umbrella of depressive disorders, MDD ranks as
having the greatest burden of disease (Ferrai et al., 2013) in terms of association
to disability-adjusted life years (DALYs). One DALY represents 1 year of healthy
life lost, and it aggregates both years of life lived with a disability and the years of
life lost due to premature mortality. In addition, individuals diagnosed with MDD
are at elevated risk for suicide (Ferrari et al., 2014). Of those who have MDD,
about 64% of adults and 71% of adolescents report severe impairment associated
with depression (Center for Behavioral Health Statistics and Quality, 2018). In
2017 in the United States, approximately 3.2 million adolescents (aged 12–17)
had at least one episode of MDD, which represents about 13% of the U.S. adoles-
cent population (Center for Behavioral Health Statistics and Quality, 2018). Given
both the impact and high prevalence rates, MDD is considered a global health
priority. A plethora of research relates to the etiology, diagnosis, and treatment of
this condition.
An area of research relatively less explored is the co-occurrence of depression
among individuals with autism spectrum disorder (ASD). Considered a public
health concern since the 1990s (Newschaffer & Curran, 2003), ASD alone is esti-
mated to affect 1 in 54 children (Maenner et al., 2020). Among individuals with
ASD and depression, substantial negative outcomes have been reported beyond
136
what would be expected from ASD alone, including functional impairments, sig-
nificant family burden, and risk of suicide and/or self-harm (Cassidy et al., 2014;
Magnuson & Constantino, 2011). The current chapter will discuss developmental
considerations in the diagnosis of MDD and ASD, co-occurrence of MDD and
ASD, clinical similarities and differences, and recommendations for providers.
DIFFERENTIATING STABLE VERSUS EPISODIC

SYMPTOMS OVER TIME
Understanding a given individual’s “baseline” mood and behavior is critical when

trying to distinguish between symptoms of MDD and ASD. For someone to be
diagnosed with MDD, the symptoms must represent a “change from previous
functioning” (American Psychiatric Association, 2013). This represents an impor-
tant piece of the diagnostic puzzle, as clinicians want to make sure that individual
differences are not pathologized (e.g., someone might be fairly “flat” in terms of
nonverbal expression, not express a wide range of emotions, or might be natu-
rally shy or reserved). This “change from baseline” aspect of MDD is conceptually
distinct from symptoms of ASD, which generally are observed in early life (e.g.,
when a child fails to meet social developmental milestones or is observed to in-
teract with people and objects differently than their neurotypical peers) (National
Center on Birth Defects and Developmental Disabilities, 2019).
Thus, whereas ASD can be considered a condition that one is likely born with
and which becomes observable as soon as social-communication expectations
outpace the social-communication skills of the given individual, MDD repre-
sents a noticeable change in one’s “standard” or “baseline” behaviors. In the case
of MDD, caregivers, friends, and/or the patient themselves are typically able to
describe a “before” period when the patient did not exhibit symptoms of MDD,
and the change in behavior becomes pronounced. In the case of ASD, however,
this is typically not the case—though there are instances in which children ini-
tially appear to be meeting social and developmental milestones during the first
18–24 months of life before symptoms become clear (e.g., ASD which accom-
panies developmental regression in language and social skills; Barger et al., 2013;
Hansen et al., 2008).
Another notable difference between MDD and ASD can be observed in how the
symptoms manifest over time. Beyond the fact that symptoms of MDD must rep-
resent a marked change in functioning, the course of MDD is one of waxing and
waning. That is, MDD is not a static disorder—it is cyclical and episodic in nature.
Individuals with MDD typically experience distinct episodes of MDD, between
which they return to a euthymic mood. This episodic pattern of MDD symptoms
has been observed across age groups, including children and adolescents (Kovacs
et al., 2016). ASD, however, has a relatively stable symptom trajectory across time
(Simonoff et al., 2019; Szatmari et al., 2015). That is, although specific symptoms
in ASD can improve with behavioral intervention (e.g., language skills, social re-
sponsiveness), overall ASD symptoms tend to be relatively stable.
137
Autism Spectrum Disorder Versus Major Depressive Disorder137
Given the distinct behavioral trajectories between the two conditions, it is

crucial for clinicians to ask parents, caregivers, and/or identified patients them-
selves about their current behavior compared to the past, particularly regarding
symptoms of MDD (e.g., appearing tearful/sad, trouble sleeping/eating, etc.). In
the context of a parent interview, one can imagine a scenario in which a parent
may describe their child as having limited eye contact, few friends, flat affect,
trouble sleeping, and not using gestures. Though these observable symptoms are
not enough to distinguish between ASD and MDD, an important follow-up ques-
tion would be, “How long has he or she had trouble with peers/had limited eye
contact?” or “When did he or she first have trouble sleeping?” Such questions will
likely shed light on whether these challenges have always been present, which
would be suggestive of ASD, or whether they represent a change in behavior,
which would be more suggestive of MDD. Similarly, it is important to ask parents
(and adolescents and adults themselves) about whether they have experienced
distinct episodes of these challenges—between which social-communication dif-
ficulties were improved—versus the symptoms being static and not episodic.
Social-Communicative Development in
Early Childhood (0–4 Years)
A second critical consideration when trying to differentiate between MDD and

ASD is the individuals’ early social-communicative skills and/or the presence
of restricted interests or repetitive behaviors during this time period. Though
it is possible for preschool-age children to present with MDD, it is rare. In a
population-based study conducted in Norway (all children born in 2003–2004;
n =2,475), the 3-month prevalence of MDD in 4-year-old children was 0.3%,
though the prevalence of depression, not otherwise specified (Depression-NOS)
was higher at 1.8% (Wichstrom et al., 2011). Regarding the timing of when MDD
is most likely to be diagnosed, a study of 4,041 individuals with MDD found the
mean age of onset was 26 years of age, with 12% reporting their age of onset
occurring prior to age 12, 25.2% reporting onset in adolescence (12–17 years of
age), and 50.2% reporting onset in early adulthood (between 18 and 44 years of
age). Less than 1% of the sample reported their first episode of MDD occurring
prior to age 3, and only about 3% reported their first episode occurring between
4 and 6 years of age.
However, ASD is often diagnosed in early childhood, and a requisite of later di-
agnosis is the report of at least some symptoms present in the “early developmental
period” (previously specified as age 3 or younger in the Diagnostic and Statistical
Manual for Mental Disorders, fourth edition [DSM-IV]). In a population-based
study of 4,078 individuals with ASD, 44% received a comprehensive evaluation by
36 months of age, and the median age of initial evaluation was 44 months across
all sites (MMWR, CDC, 2014). Regarding age of formal diagnosis, the median age
varied slightly by diagnostic category (48 months for autistic disorder, 50 months
for ASD/pervasive developmental disorder, and 74 months for Asperger disorder)
138
(CDC, 2014). Note that although this study was published in 2014, data were col-
lected in 2010 prior to DSM-5 (in which all three diagnostic categories would now
fall under the umbrella of ASD).
Overall, then, symptom presentation prior to age 5 is relatively rare for MDD
and common for ASD, which makes it particularly important for clinicians to
query parents about their children’s social-communicative skills in early child-
hood. As noted above, symptoms of MDD and ASD can be challenging to dis-
entangle when children are older, particularly as both conditions present with
social-communicative deficits. However, if social-communication deficits were
observed in early childhood, this provides evidence of potential ASD or other
developmental disorder.
Co-Occurring Major Depressive Disorder and Autism

Spectrum Disorder
Previous literature demonstrates that individuals with ASD often experience

co-occurring psychiatric diagnoses, such as attention-deficit/hyperactivity dis-
order (ADHD), anxiety disorders, and depressive disorders (Mazzone et al., 2012;
Simonoff et al., 2008; White et al., 2009). A recent meta-analysis of co-occurring
depression and ASD suggests that the prevalence is highly variable and ranges
from 0.4% to 76.2% (Hudson et al., 2019) and, for youth with ASD (under 18 years
of age), 0.9% to 44% (e.g., Simonoff et al., 2008; Strang et al., 2012). Overall, ag-
gregate data suggest that the prevalence of depression in ASD is four times larger
than for the general population (Hudson et al., 2019). Compared to neurotypical
youth, youth with ASD may be at increased risk of depression due to the social
deficits that are core to ASD itself. Indeed, those with ASD who have greater
awareness of their social difficulties tend to be more vulnerable to depression
(Gotham et al., 2014; Hedley & Young, 2006; Mayes et al., 2011).
For example, Mayes et al. (2011) examined predictors of maternal ratings of de-
pression in a large sample of 627 youth (1–17 years) with ASD with a broad range
of cognitive abilities. Findings suggested that the strongest predictors of depres-
sion were increased autism symptom severity, verbal IQ, and age. While depres-
sion was detected from very early ages, adolescents (11–17 years) had significantly
higher depression scores than both children (6–10 years) and preschool-age chil-
dren (1–5 years). Moreover, across all age groups, depression was significantly
higher among youth with high verbal IQ (≥ 80) than those with low verbal IQ
(<80), which supports the positive association between IQ and depressive symp-
toms in ASD (for a review, see DeFilippis, 2018). For example, 72% of adolescents
with high verbal IQ were depressed versus (the still notably high) 58% of those
with low verbal IQ. The authors posited that adolescents with higher cognitive
functioning are more likely to be in general education or mainstream classrooms
with typically developing peers. Thus, complex social demands during this de-
velopmental period may exacerbate the manifestation of depression. Moreover,
139
high autism symptoms among this group of youth with ASD may have collateral
effects, as they may be more acutely aware of their social difficulties compared to
their peers.
Though MDD is often considered a diagnosis which revolves around sadness
or anhedonia (loss of ability to find pleasure), whereas ASD is thought to revolve
around social-communication deficits, early theories of depression emphasized
social skills deficits as central to the disorder (Lewinsohn, 1975). Lewinsohn’s be-
havioral theory posited that individuals with depression exhibit poor social skills
(Lewinsohn, 1975). In this view, social skills deficits were considered an ante-
cedent to depression, as they lead to a lack of positive reinforcement from others
(e.g., peers avoiding the individual), which contributed to MDD. Note, however,
that this theory was criticized due to lack of clarity about the causal relationship
between depression and social skills. That is, though Lewinsohn originally pos-
ited that lack of social skills was a causal factor in the development of depression,
evidence was ambiguous about whether social skill deficits preceded depression
or whether difficulties with social interactions were a consequence of depression.
In response to such criticism and lack of clear causal evidence, Lewinsohn revised
his theory to reflect social skills deficits as secondary to being depressed, rather
than the reverse (Lewinsohn et al., 1985). Nevertheless, it is clear that social and
interpersonal functioning is affected among persons with depressive disorders
(Segrin, 2012), such as MDD.
Unfortunately, some individuals with co-occurring ASD and MDD are mis-
diagnosed due to clinical overshadowing (e.g., clinicians attributing symptoms of
MDD to ASD and therefore not recognizing the need for an additional diagnosis),
challenges disentangling symptoms of ASD from MDD, and lack of validated di-
agnostic tools for evaluating MDD in ASD populations. Reported prevalence
rates of depression among individuals with ASD are highly variable (e.g., 0.4%–
76.2%; Hudson et al., 2019). Such variability is often attributed to diagnostic and
assessment challenges. Below, we describe common overlapping symptoms be-
tween MDD and ASD that make differential diagnosis (distinguishing between
ASD and MDD) difficult for mental health professionals.
Clinical Similarities
Understanding the clinical similarities between ASD and MDD is crucial to our
ability to make accurate differential diagnoses. In an effort to advance this under-
standing, recent research has highlighted key areas in which overlapping symptom
profiles exist. As described in the sections below, these include nonverbal social
communication deficits, difficulties with social relationships, social cognitive
deficits, and rumination. Within this chapter we focus most on the broad overlap
in social deficits across autism and depression. Although the underlying symp-
toms that contribute to social difficulties differ between the two conditions (e.g.,
limited initiation of social interactions in ASD versus withdrawal in MDD), the
140
presentation of these symptoms can appear similar across the two diagnoses. In
each section of Table 7.1, areas of symptom overlap between ASD and MDD are
highlighted to help distinguish characteristics of each disorder. In addition, over-
lapping symptoms, along with the corresponding DSM-5 criteria for each diag-
nosis, are shown in Table 7.1.
Nonverbal Social Communication. Nonverbal communicative behaviors used
for social interactions include eye contact, intonation, and gestures. If a clinician
observes flat or constricted affect (in both speech and facial expressions) and re-
duced eye contact in an adolescent, MDD might be considered as a potential di-
agnosis. Research on depression corroborates clinical observations of nonverbal
communication deficits, as evidenced by increased speech latency during conver-
sations (Yang et al., 2013), reduced eye contact (Ellgring, 2007), and less smiling
during social interactions (Girard et al., 2013). However, such observable behav-
iors are also symptoms of ASD, specifically a limited range of facial expressions,
unusual prosody (e.g., speaking in a “robotic” tone), and reduced eye contact.
Similarly, while individuals with depression tend to use limited prosocial ges-
tures (Annen et al., 2012; Fiquer et al., 2018), those with ASD often show reduced
(or absent) descriptive gestures, for example using gestures to illustrate something
said verbally (e.g., Attwood et al., 1988; Loveland & Landry, 1986; Wetherby &
Prutting, 1984). Under the DSM-5, deficits in understanding and using gestures
are fundamentally related to social-communicative deficits of ASD, particularly
poor integration of verbal (e.g., speech) and nonverbal (e.g., gesture) commu-
nication. As such, the evaluation of communicative gestures is included in mul-
tiple assessment instruments validated in ASD populations, including screening
questionnaires (e.g., Social Communication Questionnaire; Rutter et al.,
2003) and gold-standard diagnostic assessments for ASD (e.g., Autism Diagnostic
Observation Scale, Second Edition; Lord et al., 2012). In contrast, the limited use
of gestures in MDD may reflect behaviors associated with negative or depressive
affect (e.g., fatigue, social anhedonia) rather than core symptomatology.
Social Relationship Difficulties. Difficulties with social relationships and overall
social withdrawal can be observed in both MDD and ASD. Individuals with ASD
often have trouble establishing and maintaining friendships due to challenges
in understanding and following unspoken social “rules,” particularly in adoles-
cence as social nuances become more complex (Mayes et al., 2011; White et al.,
2009). Some individuals with ASD may appear uninterested in making friends or
socializing and may prefer to be alone or participate in circumscribed interests.
Other youth with ASD may be highly motivated to engage with peers but may
struggle with the complex social skills which are required for successful inter-
actions and relationships in middle and/or high school. Similarly, adolescents
with MDD may withdraw from friends and acquaintances and spend more time
alone. Conversational self-focus (e.g., dominating the conversation) has also been
observed among those with MDD (Schwartz-Mette & Rose, 2016), which may
lead to increased difficulties with social relationships over time. Note, however,
that developmental context, age, and change in social skills from a given child or
adolescent’s “baseline” behavior are critical considerations.
14
Table 7.1 A Comparison of Major Depressive Disorder and Autism Spectrum Disorder
Major Depressive Disorder Autism Spectrum Disorder

Symptom Observable Symptoms Related DSM-5 Diagnostic Observable Symptoms Related DSM-5 Diagnostic
Overlap Criteria Criteria
Nonverbal • Reduced eye contact • Markedly diminished interest • Limited eye contact • Deficits in nonverbal
communication • Less smiling or pleasure in activities (A2) • Atypical facial expressions communicative behaviors used
• Constricted affect, or “flatter” • Psychomotor agitation (A5) • Reduced display of emotion for social interactions (A2)
facial expressions • Feelings of worthlessness or • Unusual prosody
• Speech latency in excessive guilt (A7)
conversation • Diminished ability to think or
concentrate (A8)
Social • Lack of pleasure from social • Markedly diminished interest • Limited initiation of, or • Deficits in social-emotional
relationship interactions or pleasure in activities (A2) response to, social interactions reciprocity (A1)
difficulties • Conversational self-focus • Fatigue or loss of energy • Preference for circumscribed • Deficits in developing,
nearly every day (A6) interests maintaining, and understanding
• Feelings of worthlessness or relationships (A3)
excessive guilt (A7)
Social cognitive • Less accurately able to • Depressed mood most of the • Diminished ability to • Deficits in developing,
deficits identify emotional facial day (A1) understand the perspective, maintaining, and understanding
expressions (i.e., bias toward or interpret the emotions, of relationships (A3)
negative or sad emotions) others
Rumination • Repetitive thinking about • Feelings of worthlessness or • Perseveration on • Insistence on sameness, inflexible
distress or about feelings of excessive guilt (A7) circumscribed interests adherence to routines, or
sadness • Insistence on sameness ritualized patterns of verbal or
• Inflexible adherence to nonverbal behavior (B2)
routines
142
One of the “hallmark” symptoms of MDD is anhedonia—loss of pleasure in

activities that one used to enjoy and/or difficulty experiencing pleasure more
broadly. Historically, anhedonia was understood in the context of activities and/
or events (e.g., a person who used to love playing soccer reporting that he now
gets no enjoyment from the sport). However, clinicians now recognize that anhe-
donia can also occur in the social domain, referred to as “social anhedonia” or a
reduced pleasure taken in social activity and/or reduced social drive observed in
MDD (Kupferberg et al., 2016). Social anhedonia occurs when individuals with
MDD have diminished desires for social affiliation and do not feel the need to
belong to a social group (Brown et al., 2007; Kwapil et al., 2009; Silvia & Kwipil,
2011). The description of social anhedonia is markedly similar to the “social mo-
tivation hypothesis” of ASD (Chevallier et al., 2012; Dawson et al., 1998, 2004,
2005). According to the social motivation hypothesis, individuals with ASD have
reduced social engagement because social interactions are less rewarding to those
with ASD compared to their neurotypical peers. This lack of social engagement is
hypothesized to have cascading consequences for both language and social skill
acquisition during critical developmental windows, which contributes to the ob-
servable symptomology of ASD (e.g., deficits in social communication). For a re-
view of social motivation and depressive symptoms in ASD, see Smith and White
(2020).
Social Cognitive Deficits. Research on individuals with MDD highlights broader
social cognitive deficits observed in this population beyond the discrete social
skills mentioned above. For example, individuals with MDD are observed to
be less accurate in identifying emotional facial expressions compared to their
nondepressed peers (Anderson et al., 2011). Individuals with MDD appear to be
biased toward negative stimuli and are more likely to interpret a neutral facial ex-
pression as sad compared to their nondepressed peers (e.g., Anderson et al., 2011;
Bourke et al., 2010; Gollan et al., 2008, 2010). Thus, social cognitive deficits are
driven by the pathological process of MDD, as the disorder affects one’s emotional
state (Weightman et al., 2014).
The literature is mixed on whether individuals with ASD and MDD have the
same pattern of deficits in emotion recognition, or whether the two groups have
distinct patterns of challenges with emotion recognition. Some studies suggest
that those with ASD have broad deficits in emotion recognition rather than
having a negative bias as is observed in MDD (for a meta-analysis, see Lozier
et al., 2014), and others indicate that both individuals with co-occurring ASD
and MDD and those with MDD alone demonstrate a negative attentional bias,
whereas neurotypical participants and those with ASD who do not have MDD do
not display this bias (Bergman et al., 2021; Unruh et al., 2020). Although social-
cognitive deficits are not directly referenced in the DSM-5 criteria for MDD,
the above suggests that these challenges might relate to the individuals’ own de-
pressed mood (e.g., being more biased toward negative stimuli compared to those
without MDD).
Previous work has also observed affective theory of mind impairments in
individuals with MDD using the Reading the Mind in the Eyes Test (RMET;
143
Baron-Cohen et al., 1997, 2001), in which participants are presented with a se-
ries of photographs of the eye region of different faces and asked to choose which
word best describes each person’s thoughts or feelings. The RMET is often con-
sidered an “advanced” theory of mind task (ToM), as it requires both mental state
attribution and emotion recognition. However, theory of mind deficits in MDD
are also observed in less complex tasks (e.g., guessing the intentions of a protag-
onist in a short story and second-order belief tasks in which one can have a false
belief about someone else’s belief). A recent meta-analysis on MDD suggests that
ToM deficits are associated with the severity of depressive symptoms and con-
tribute to social impairments in MDD (Bora & Bourke, 2016). That is, individ-
uals with more severe depressive symptoms exhibit more pronounced difficulties
with ToM, and those difficulties contribute to social impairments. Although ToM
deficits are not directly referenced in the DSM-5 criteria for MDD, these diffi-
culties could be interpreted as either related to the individuals’ depressed mood
itself (as mentioned above for emotion-recognition difficulties) or due to dimin-
ished attentional capabilities, another characteristic of depression. For example,
perhaps an individual with MDD is consumed with thoughts/cognitions about
sadness or feelings of guilt and thus is less able to engage in ToM or other social-
cognitive tasks.
Challenges with ToM tasks have been observed in ASD for decades and have
been reviewed in depth elsewhere (e.g., Baron-Cohen, 2001). Briefly, individuals
with ASD have marked difficulties with first-order false belief tasks (e.g., un-
derstanding that what the person herself knows might differ from what another
person knows) and second-order false belief tasks (e.g., recognizing what might
cause someone to feel certain emotions, inferring what someone is thinking from
their facial expression and/or gaze, and other broad ToM tasks). Compared to
their neurotypical peers, children with ASD have trouble using ToM in these
scenarios and often default to reporting what they know rather than taking the
perspective of another person (e.g., Baron-Cohen et al., 1985). Overall, challenges
with ToM are observed in both individuals with MDD and ASD. There is lack
of clarity on the mechanisms underlying ToM difficulties in MDD (e.g., due to
depressed mood, self-preoccupation with depressive cognitions, etc.), whereas
in ASD difficulties with “reading/interpreting” the intentions of others are often
considered central to the diagnosis.
Rumination. In the context of MDD, rumination is defined as a pattern of re-
petitive thinking about distress (e.g., in response to distress, an individual will
think about the symptoms of the distress rather than engaging in problem-solving
related to the distress; Nolen-Hoeksema, 2000). Individuals with MDD often ru-
minate about their own sadness (e.g., their own depressed mood) and/or have
repetitive thoughts of guilt, shame, or worthlessness. These thought patterns do
little to lessen distress, as the individual is not engaging in problem-solving, but
rather is focusing on the problem itself. Rumination has been demonstrated to
predict the number of MDD episodes (Robinson & Alloy, 2003) and has been
associated with both the development of MDD and continuation of depressive
symptoms (Siegle et al., 2004).
14
Though rumination, as defined above, is not an explicit symptom of ASD, sim-

ilar ruminative thinking patterns between ASD and MDD groups have been dem-
onstrated (Crane et al., 2013; Gotham et al., 2018; Rieffe et al., 2014). In the context
of ASD, general repetitive thinking is often referred to as perseveration. Clinically,
rumination can appear similar to the perseverative cognition and behaviors ob-
served in ASD. Indeed, many individuals with ASD engage in perseverative neg-
ative thinking that is phenomenologically similar to depressive rumination. For
example, persons with ASD might become fixated on a perceived social failure,
rejection, or negative event, such as loss of a job, and spend an inordinate amount
of time thinking about that without attempting to move forward or problem-
solve. Moreover, perseveration has been observed to be significantly associated
with rejection sensitivity. There has been speculation that individuals with ASD
and MDD may share similar levels of rejection sensitivity. Perseverative thinking
about unsuccessful social interactions might lead to heightened sensitivity to so-
cial rejection (e.g., anxiously expecting social rejection), which may increase one’s
risk of depression (Keenan et al., 2018). While a single overlapping symptom may
not result in the dual diagnosis of ASD and MDD, rumination has been shown to
correlate with depressive symptomology in independent autism samples (Crane
et al., 2013; Gotham et al., 2014) and even predict it longitudinally in children
with ASD (Rieffe et al., 2014).
However, in general, other forms of perseverative behaviors are more specific
to autism than negative rumination. As reflected in DSM-5 criteria (American
Psychiatric Association, 2013), individuals with ASD are often distressed by small
changes in routine and insist on fixed routines; they also tend to perseverate on
strong, circumscribed interests. Given that both rumination and restricted, re-
petitive behaviors (RRBs) can involve inflexibility and ritualized or rigid thinking
patterns, clinicians may have trouble distinguishing between repetitive and rigid
thinking in ASD and rumination in MDD. In this case, it may be important to
assess the content of rigid and repetitive thinking, with circumscribed interests
and inflexible adherence to rituals or routines characterizing autism, while rumi-
nation on negative material and reassurance-seeking behavior characterizes de-
pression (either in the presence or absence of autism).
Associated Features
Although not core features of ASD, difficulties with sleeping (e.g., Adams et al.,
2014; Richdale & Schreck, 2009), food sensitivity (e.g., Chistol et al., 2017), and
difficulties with attention (e.g., Visser et al., 2016) are common in the autism
population. These features overlap with DSM-5 criteria for MDD—changes in
sleeping and eating patterns, and trouble concentrating—which poses challenges
for clinicians when trying to ask about features which are unique to one of the two
diagnoses (Stewart et al., 2006).
We note, however, that the specific presentation of these symptoms differs
between ASD and MDD. Difficulties with either falling or staying asleep are
common in MDD, and the onset of these sleep challenges generally coincides
145
with the beginning of other depressive symptoms and represents a change from
the individual’s “baseline.” Sleep difficulties in ASD are often reported at an early
age and are enduring rather than representing a change within the individual.
However, it remains unclear whether sleep disturbances in children with ASD
are associated with symptoms of ASD (e.g., social-communicative difficulties, re-
stricted interests and repetitive behaviors) or whether sleep difficulties are associ-
ated with co-occurring symptoms that are related to ASD (e.g., internalizing and
externalizing behaviors) (Hollway & Aman, 2011).
Similar to sleep-related issues, appetite/food intake symptoms represent a
change from an individual’s baseline in MDD, whereas food selectivity/sensitivity
often begins early in life for children with ASD. Additionally, children with ASD
often present with reduced/limited food intake due to sensory issues (e.g., a given
child may only want foods of a certain texture, or may only want to eat one type of
food and exhibit resistance to change). This differs from the more comprehensive
appetite changes associated with MDD, which usually involve markedly dimin-
ished appetite compared to baseline or, by contrast, overeating and weight gain
(American Psychological Association, 2013).
Finally, though difficulties with attention/concentration may appear similar be-
tween individuals with MDD and ASD, an investigation into the cause of these
symptoms can assist in disentangling commonly observed behaviors. In individ-
uals with MDD, a commonly reported symptom is difficulty concentrating due to
feeling as though one’s mind is “blank” or due to being preoccupied with negative/
depressive thoughts. In contrast, children with ASD may have difficulty paying
attention to presented information or material if they are focused on a restricted
interest or may have trouble attending to a new topic if they want to continue
talking about a restricted interest or playing with a preferred toy, but do not typ-
ically exhibit attentional challenges related to their mind “going blank” or being
preoccupied with negative thoughts.
As we outline below, though these behavioral features co-occur in both ASD
and MDD, considering patterns of onset, change from previous functioning, and
developmental trajectories can help differentiate between the two conditions (or
assist in making a dual diagnosis).
CASE STUDY
Given the symptom overlap between MDD and ASD mentioned above, it is im-
portant for clinicians to note differences between the two conditions to aid in
differential diagnosis. Figure 7.1 depicts a clinical “decision tree” of important
clinical considerations when attempting to differentiate between symptoms of
MDD versus those of ASD. In the section below, we outline a case study for
“Shawn,” a 14-year, 3-month-old boy who was referred to a university-based
screening clinic by a community mental health provider due to concerns about
potential ASD.
146
I.
Are social communication deficits (e.g. verbal and nonverbal communication difficulties) present?
Yes
No
A1. A2.
Were these symptoms present in early Are sufficient symptoms of MDD present (e.g.
childhood (e.g. prior to age 4–5)? 4+ symptoms during a 2 week period)?
Yes No Yes No
Return to Box A2
1. 1. Explore other diagnoses

In addition to social deficits, are restrictive, repetitive Do MDD symptoms represent a based on presenting
behaviors present (currently or by history)? change from previous functioning? problem/symptoms
Yes No Yes No
Explore Social (Pragmatic)

Explore other mood disorders,
ASD diagnosis likely Communication Disorder MDD diagnosis likely including Persistent Depressive
and other neurodevelopmental
Disorder
disorders
a.)
a.)
Are there additional symptoms that cannot be
Are there additional symptoms that cannot be
explained by MDD alone (e.g. some social
explained by ASD alone (e.g. suicidal thoughts or
impairments are longstanding but not all)?
actions, appears tearful)?
Yes
Return to Box A2 No Yes No
Comorbid condition Return to Box A1
likely Comorbid condition MDD diagnosis likely
ASD diagnosis likely likely
Figure 7.1. A clinical decision tree.

147
Presenting Problem
Shawn experienced significant challenges at home and in school. Current care-

giver concerns included anxiety, social difficulties, aggression, impulsivity, ar-
gumentativeness, and noncompliance. Shawn was primarily in a classroom for
students with emotional disturbance as per an individualized education plan
(IEP). He did not receive services in school but received psychiatric services from
the county. His prescribed medication protocol included Vyvanse and Prozac.
Shawn’s mother expressed concerns about his mental health, particularly with
regard to personal hygiene, sad and withdrawn behaviors, and angry outbursts.
Shawn’s mother reported that the reason mental health providers referred him for
testing was due to lack of eye contact, flat affect, lack of interest interacting with
others, and challenges in understanding other people’s points of view.
History
Shawn was adopted at 2 months old and lived with his adoptive mother, sister, and
brother. His adoptive mother reported that Shawn was likely exposed to drugs
during pregnancy. Shawn had experienced feelings of sadness for a few years,
since approximately age 11. He had a history of suicidal ideation and was hospital-
ized for suicidal ideation 3 months prior to visiting the clinic. He was discharged
after 3 days and did not express a desire or plan to harm himself between being
released from the hospital and visiting the clinic.
Assessment
The assessment battery included a cognitive assessment, gold-standard measures

of autism, a measure of adaptive skills, and measures of behavioral and emotional
problems. A brief interview was conducted with Shawn to discuss the reason for
the visit and psychosocial functioning at home and in school. A brief interview
was also conducted with his adoptive mother to take history of child behaviors
and discuss current concerns.
Case Conceptualization
Cognitive Assessment
Shawn presented as a cooperative but unhappy teenager. For example, during cog-
nitive testing, he completed all presented tasks without complaint and put forth a
strong effort. However, Shawn frequently placed his head in his hands or on the
table. He appeared tired and sounded tearful. His affect was flat. Shawn’s cognitive
ability was in the extremely low range (full-scale IQ score of 64). However, the
examiner noted that his scores were likely negatively impacted by his challenges
with concentration and timed tasks (e.g., block design).
148
Adaptive Skills Assessment

Shawn’s mother completed the Vineland Adaptive Behavior Scales, Second
Edition. As per her report, Shawn’s adaptive skills were in the low range for his age.
Autism Assessment
The Autism Diagnostic Observation Schedule, second edition (ADOS-2) was
completed. Socially, Shawn provided brief responses to the examiner’s questions.
For example, when asked who his favorite teacher was, he replied, “They’re all
the same.” He did not elaborate on such responses or ask the examiner questions
about her experiences. Despite the examiner’s frequent bids for conversation,
Shawn did not engage in reciprocal conversation. With regard to nonverbal social
communication, he rarely made eye contact with the examiner and his body was
usually slouched. His head either tilted in the direction of the floor or was resting
on his hands. He directed few facial expressions to the examiner and made lim-
ited attempts at social overtures. Shawn did not present with any sensory-seeking,
routinized, or repetitive behaviors during the assessment. He did not present with
any restricted interests.
Shawn was asked to respond to questions related to socioemotional experi-
ences. He did not identify with feelings of anger, happiness, sadness, or fear. Yet
he told the examiner that he “is not happy most of the time” and that he breaks
objects when wanting to feel better. Shawn reported being teased and bullied by
peers at school (e.g., “They say stuff about my race”). Shawn could not name any
friends and reported feeling lonely. He stated that he had a girlfriend, though
his responses regarding this romantic relationship were inconsistent and, thus,
questionable. When the examiner asked about plans and aspirations, Shawn re-
ported that he wanted to join the high school basketball team next year. He also
expressed wanting to get married in the future.
Clinical Interview: Shawn

A brief interview was conducted with Shawn to obtain further information
about reported social-emotional difficulties. Shawn was aware that he had been
in trouble with his mother and at school, on multiple occasions. He sounded
tearful throughout the interview. When asked about the last time he remem-
bered feeling happy, he said he could not remember ever feeling not sad; his
mood ranged from “sad to OK, and back to sad.” He reported feeling tired “all
the time.” He could not recall when he last felt happy and could not identify any
activities that he enjoyed. Shawn expressed wanting help with feeling sad. He
told the examiner that his medication made it difficult for him to concentrate.
The examiner noted that Shawn appeared to have difficulty concentrating and
tended to move slowly. Shawn often took a long time to answer questions, and
both speech and physical movement appeared effortful. Shawn expressed feeling
close to his oldest sister, in that he was comfortable sharing his experiences and
feelings with her. He remembered being hospitalized, but he did not want to
discuss it beyond sharing that he felt better after leaving the hospital than he did
prior to being admitted.
149
Clinical Interview: Parent/Caregiver

In order to obtain more information about Shawn’s behavior at home, as well as
insight into how long he had been experiencing mood difficulties, an interview
with his mother and sister was conducted. They confirmed that Shawn often pre-
ferred to be alone and appeared sad much of the time. His mother shared that
Shawn had been withdrawn and appeared tired and low energy for about 3 years.
However, his mother shared that at home Shawn often appeared more angry and
irritable than sad. His verbal outbursts were described to be significantly out of
proportion to the situation. For example, when Shawn’s mother told him not to
worry about what other kids at school might think about him, he began yelling at
her and making verbal threats (e.g., “I know where the knives are!”). His mother
reported that these types of outbursts happened multiple times per week for about
3 years. During these outbursts, he appeared out of control, almost as if a dif-
ferent person. The outbursts were reported to typically last for 30 minutes to an
hour. After he calmed down, he would be sweet and loving toward his mother and
sister. Some mental health providers and Shawn’s mother wondered whether his
angry outbursts might be a symptom of rigid thinking associated with ASD and/
or trouble understanding the intentions and feelings of others.
When asked about social-communicative behavior between the ages of 4 and
5 (using the Social Communication Questionnaire; Rutter et al., 2003), it was re-
ported that Shawn often spoke with others just to be friendly, used descriptive
gestures, and spontaneously combined speech, gestures, and facial expressions
and/or eye contact to make himself understood. She also reported that he was
“very emotional” and that she often had to go to his preschool and elementary
school to help get him out from under the table as he would hide and teachers
were unable to get him to come out.
Clinical Impressions
Overall, clinical impressions were that a diagnosis of ASD was not warranted.
Shawn had social communication difficulties (e.g., unable to identify meaningful
relationships with peers or teachers, flat affect, reduced eye contact, absent ges-
tures). Further, clinical conceptualization of the reasons for his social commu-
nicative difficulties aligned with MDD rather than ASD. For example, Shawn’s
facial expressions and vocal prosody were flat. In individuals with ASD, vocal
prosody is often described as being “robotic” and flat, and facial expressions
are often undirected (e.g., not directed toward social partners but rather at ob-
jects), or are absent even when discussing things the child or adolescent enjoys
or is highly interested in. In Shawn’s case, his flat prosody was not robotic but
rather sounded despondent, and his lack of facial expressions matched with his
report that he did not enjoy anything and could not remember a time when he
did not feel sad. Shawn’s lack of gestures and his short and delayed verbal re-
sponses to questions were consistent with his sluggish and slow body movement
(e.g., upon observation it looked as though any movement, including verbal re-
sponses, was highly effortful for him), which is distinct from verbally fluent ado-
lescents with ASD who often describe things in great detail but do not integrate
150
gestures and eye contact into their speech. In addition, he did not evidence areas
of restricted interests or repetitive behaviors during the assessment. Finally, his
mother reported that Shawn had appeared sad, “down,” and had low energy for
about 3 years; she did not report concerns about Shawn’s social-communicative
development in early life. Taken together, his social-communication challenges
appeared to align more closely with MDD than ASD (e.g., lack of conversational
or social skills due to low energy, sadness, and anhedonia rather than due to core
social skills deficits).
Given both the intensity and duration of symptoms (e.g., low mood and en-
ergy), Shawn met criteria for MDD. Shawn had been experiencing the following
symptoms of MDD: depressed mood, diminished interest or pleasure in activities,
psychomotor retardation, fatigue or loss of energy, diminished ability to think or
concentrate, and recurrent thoughts of death. As per both Shawn’s own report and
that of his mother, these symptoms had been ongoing for longer than the required
2 weeks in the DSM-5. Finally, the symptoms were causing clinically significant
distress (e.g., challenges with friends, problems at school, and previous hospitali-
zation for suicidal thoughts/behaviors).
CONCLUSION
In sum, both MDD and ASD can present with social-communication deficits, so-
cial cognitive challenges, and thoughts/behaviors that can be considered repeti-
tive (e.g., rumination, repetitive cognitions). Despite these overlapping symptom
areas, however, there are some critical considerations that can help clinicians
differentiate between the two conditions (or to justify giving a dual diagnosis).
The overarching guiding questions include (1) whether currently reported symp-
toms are long-standing and began early in life versus represent a clear change
in the person’s thoughts and behavior, and (2) whether social-communicative
challenges and evidence of restricted interests and/or repetitive behaviors were
present in early life (typically prior to age 4 or 5). Beyond those primary con-
siderations, however, we have attempted to provide examples of how the quality
and presentation of symptoms may differ across these conditions, even if similar
in name. For example, “flat” intonation may differ by an “empty” or despondent
quality (MDD) versus an unusual, asocial monotonic quality (ASD); passive ru-
mination on one’s distress in MDD may be accompanied by other, less negatively
valenced forms of cognitive perseveration in ASD; sensory sensitivity to food
textures and resistance to trying new foods may differ from a more pervasive
(and new onset) diminished appetite, and so on. Clinicians should note, how-
ever, that the presence of multiple variants of these symptoms is entirely pos-
sible, as is the presence of both disorders within one individual. Given the ASD
population’s vulnerability for co-occurring conditions, including MDD, it is im-
portant to screen for co-occurring depression when assessing youth with ASD,
with the intention of guiding targeted treatment.
15
While this chapter focused on the assessment of ASD and MDD, as well as
challenges associated with dual and differential diagnosis, the treatment of co-
occurring MDD among individuals with ASD is also a challenge, as there is very
little (or mixed) evidence for effective psychosocial or psychopharmacological
approaches for this population (DeFilippis, 2016). Cognitive-behavioral therapy
and mindfulness-based therapy are considered as psychosocial treatment options
for anxiety, but few studies have investigated the efficacy of these interventions
for depression among adolescents with ASD (for a review, see White et al., 2018).
In addition, antidepressants (e.g., selective serotonin reuptake inhibitors [SSRIs])
are commonly prescribed for the treatment of depression in ASD (Esbensen et al.,
2009). Yet a Cochrane Review found limited evidence to support their use, and
the authors even warned of their potential to cause harm (Williams et al., 2013).
Nevertheless, a comprehensive understanding of similarities and differences in
symptom expression for ASD and MDD plays an important role in supporting
progress in the area of depression treatment. More research is needed to better
understand both the clinical similarities and differences between these two condi-
tions, as such understanding is critical to make accurate diagnoses and to inform
intervention strategies.
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158

Versus Obsessive-Compulsive
Disorder and Tourette’s Disorder
M O R G A N M . M C N E E L , S TA C E Y C . G R E B E ,
R E B E C C A J . C L AY T O N , S O P H I E C . S C H N E I D E R ,
A N D R E S G . V I A N A , S A R A H S . M I R E , YA S M I N E O M A R ,
W AY N E K . G O O D M A N , A N D E R I C A . S T O R C H ■
There are a number of shared features among obsessive-compulsive disorder

(OCD), Tourette’s disorder (TD), and the restricted and repetitive patterns of
behaviors, interests, and activities seen in autism spectrum disorder (ASD)
(Huisman-van Dijk et al., 2016; Paula-Perez, 2013). This symptom overlap can
make differential or dual diagnosis among conditions challenging. Further, it may
lead to the implementation of treatment plans that are not tailored to the patient’s
primary concern. This chapter offers a review of considerations, methods, and
procedures to assist clinicians in making differential diagnoses of OCD and/or TD
versus ASD. The first section provides an overview of these disorders, including
clinical presentations and comorbidities. Following this review, symptom overlap,
two clinical case studies, and assessment recommendations are discussed. A clin-
ical decision-making tree is also included to serve as a reference for facilitating a
systematic approach to making accurate differential diagnoses.
CLINICAL PRESENTATIONS
ASD is a complex neurodevelopmental disorder characterized by impair-

ments in two areas: (1) deficits in social communication and interactions
159
Autism Spectrum Disorder Versus OCD and Tourette’s Disorder159
and (2) repetitive and restrictive behaviors and interests (RRBIs) (American
Psychiatric Association, 2013; Orinstein et al., 2015). Deficits in social com-
munication and interactions can include poorer understanding of friendships,
limited conversation skills, and less use of social/pragmatic language when com-
pared to children without ASD. RRBIs include repetitive body mannerisms (i.e.,
hand-flapping/rocking), inflexible adherence to schedules/routines, preoccupa-
tions/restricted patterns of interests (i.e., an intense interest in certain topics),
and/or persistent occupation with parts of objects (i.e., spinning the wheels of a
toy car) (Richler et al., 2007). The prevalence rate for ASD is currently about 1
in 54 children, with males being approximately four times more likely to receive
a diagnosis than females (Baio et al., 2018). Sex differences in symptom pre-
sentation are also reported, with most studies indicating that females show less
repetitive and stereotyped patterns of behavior when compared to males (Van
Wijngaarden-Cremers et al., 2014).
Though repetitive behaviors are a core feature of an ASD diagnosis, they are
also observed in other disorders. For example, RRBIs can be phenotypically sim-
ilar to obsessions and compulsions in OCD and to tics in TD. This overlap can
complicate differential diagnosis and may contribute to misidentification of the
patient’s presenting problem and inappropriate treatment planning.
Obsessive-Compulsive Disorder
OCD is characterized by the manifestation of obsessions and/or compulsions

that are time-consuming (e.g., take more than 1 hour per day) or cause clini-
cally significant distress or impairment in social, occupational, or other areas of
functioning (American Psychiatric Association, 2013). Obsessions are thoughts,
urges, or impulses that are recurrent, persistent, intrusive, unwanted, and cause
anxiety and distress. Compulsions are repetitive overt or covert behaviors or
mental acts that individuals perform in response to obsessions to alleviate obses-
sional distress (American Psychiatric Association, 2013). Examples of obsessions
and compulsions experienced by children and adults include contamination ob-
sessions with cleaning compulsions, symmetry obsessions with ordering compul-
sions, forbidden or taboo thoughts (i.e., sexual, aggressive, religious) with related
compulsions, fears associated with harm to oneself or others and checking com-
pulsions, and hoarding obsessions with related compulsions (Bloch et al., 2015;
Højgaard et al., 2017).
OCD affects 1%–2% of the population in the United States (Adam et al., 2012;
Ruscio et al., 2010), and age of onset is bimodal, with symptoms manifesting in late
childhood/early adolescence or early adulthood (Anholt et al., 2014). Compared
to individuals without OCD, children and adults with OCD report lower quality
of life (Storch et al., 2018; Subramaniam et al., 2013) and more functional im-
pairment in social and family relationships, daily life, overall well-being, and
physical and psychological health (Fineberg et al., 2019). Individuals with OCD
often present with other comorbid disorders, most frequently anxiety disorders,
160
mood disorders, impulse-control disorders, and substance use disorders (Ruscio

et al., 2010).
Tourette’s Disorder
Tics are characterized as sudden, rapid, recurrent, nonrhythmic motor move-

ments or vocalizations that vary by type (i.e., motor or phonic), anatomical lo-
cation (i.e., face/head, shoulders, leg/foot, etc.), and complexity (i.e., number of
muscle groups utilized) (McGuire et al., 2018; Robertson et al., 2008). Simple
motor tics are short in duration (i.e., milliseconds) and can include eye blinking
or shoulder shrugging. Examples of simple vocal tics include throat clearing,
sniffing, and grunting. Complex tics can appear more purposeful, such as an im-
itation of a gesture or word. Complex motor tics are longer in duration (i.e., sec-
onds) and often include a combination of simple tics exhibited simultaneously,
such as head turning and shoulder shrugging. Complex vocal tics include re-
peating one’s own words (palilalia), repeating the last-heard word or phrase (echo-
lalia), or uttering socially unacceptable words (American Psychiatric Association,
2013). Tics typically develop in childhood and reach peak severity in the second
decade of life. However, as individuals transition into adulthood, about two thirds
become symptom-free or experience less severe symptoms, and less than 20%
continue to experience a moderate or severe level of impairment in functioning
(Bloch et al., 2006).
TD is a tic disorder characterized by the presence of multiple motor tics and
at least one vocal tic for more than 1 year with onset occurring before 18 years
of age (American Psychiatric Association, 2013). Chronic tic disorder (CTD) is
characterized by the presence of single or multiple motor or vocal tics for greater
than 1 year duration, but not both. Across most studies, individuals with TD and
CTD are grouped together, given that the illness pathology is the same for TD and
CTD, and that all tics reflect muscular contractions. Thus, hereafter TD refers to
both TD and CTD. TD affects up to 1% of the population, with a higher preva-
lence in males than females (McGuire et al., 2013; Robertson et al., 2009).
TD can have a significant impact on psychosocial functioning. Compared to
children and adults without tics, individuals with tics report lower quality of life
and heightened impairment in social, occupational, academic, and psychological
domains (Houghton et al., 2016; Storch, Merlo, et al., 2007). Namely, individuals
with tics report avoiding various social activities, public places, and group events
(Conelea et al., 2011, 2013), and children with TD tend to experience bullying and
victimization by peers (Storch, Murphy, et al., 2007). Further, children with TD
have difficulty with academic tasks such as completing homework and concen-
trating on schoolwork (Storch, Lack, et al., 2007), and adults with TD experience
barriers with academic and occupational pursuits (Conelea et al., 2011, 2013). TD
has also been associated with negative psychological effects, such as lower self-
concept and higher depression, anxiety, and stress (Houghton et al., 2016).
16
COMORBIDITY
Individuals with ASD frequently meet criteria for a comorbid diagnosis of OCD
or TD. Studies have found that as many as 37% of youth (Leyfer et al., 2006) and
25% of adults with ASD (Russell et al. 2005; Rydén & Bejerot, 2008) have comorbid
OCD. An even larger percentage of individuals with ASD present with subclinical
obsessive-compulsive symptoms (Lewin et al., 2011; Van Steensel et al., 2011). In
regard to TD, approximately 10%–25% of individuals with a primary ASD diag-
nosis have co-occurring tics (Baron-Cohen et al., 1999; Canitano & Vivanti, 2007;
Rapin, 2001; Scharf et al., 2015; Simonoff et al., 2008). Having these comorbid
diagnoses has been linked to increased distress (Fischer-Terworth & Probst,
2009; McDougle et al., 1995; Russell et al., 2005), psychosocial impairment (Mack
et al., 2010), and increased risk for additional comorbid psychopathology (Lewin
et al., 2011).
In addition to overlapping symptom presentation, the frequent comorbidity of
ASD, OCD, and TD adds complexity in accurately assessing and diagnosing these
conditions. Further, the assessment process can be affected by the individual’s lan-
guage, intellectual functioning, and level of insight (Jiujias et al., 2017; Kerns et al.,
2014). Given these challenges and their implications for treatment, it is impor-
tant for clinicians to understand and be able to recognize nuanced differences in
symptoms across ASD, OCD, and TD.
SYMPTOM OVERLAP AND DIFFERENTIAL DIAGNOSIS
For an individual presenting with repetitive thoughts and/or behaviors, arriving

at an accurate differential diagnosis can be complicated as a result of similar phe-
notypic presentations of obsessions and compulsions in OCD, tics in TD, and
restricted and repetitive patterns of interests and behaviors in ASD. Moreover,
as noted earlier, individuals with ASD may also meet diagnostic criteria for co-
morbid OCD and/or TD. This section discusses symptom overlap among these
disorders, how to accurately attribute symptoms to one disorder over the other,
and other important considerations for differential diagnosis or the assignment of
multiple diagnoses.
Autism Spectrum Disorder Versus Obsessive-

Compulsive Disorder
When differentiating between OCD and ASD, important considerations include

the context and emotional experience of the thought(s) and/or behavior(s), the
content of the thought(s) and/or behavior(s), and the function of the behavior(s).
Continuous repetitive thoughts can be reflective of obsessions seen in OCD
but also of fixated interests related to ASD. To differentiate between the two,
162
it is essential to determine the context of the thoughts and source of dis-

tress. Obsessions consistent with OCD are typically regarded as ego-dystonic,
meaning that they are perceived by the individual as intrusive and unwanted.
As a result, the obsessions often cause distress and do not provide pleasure or
gratification. In contrast, the content of repetitive thoughts is often enjoyed
among individuals with ASD who demonstrate fixated interests (Turner-Brown
et al., 2011). Unlike in OCD, repetitive thoughts/interests are ego-syntonic for
those with ASD, meaning that they do not generate conflict or negative self-
judgements. Thus, the repetitive thoughts/interests are not typically regarded
as distressing among those with ASD; rather, the act of stopping the thoughts
may trigger distress (Turner-Brown et al., 2011). Due to these differences, when
considering obsessions versus focused interests, both of which can be present in
individuals with either ASD or OCD, it is important to consider the individual’s
affect at the time that they are experiencing repetitive thoughts. Obsessions in
OCD are intrusive, distressing, and unacceptable, and they are often associated
with efforts to resist them and neutralize associated distress. Fixated interests in
ASD, however, are usually desired and satisfying. An additional consideration
is that obsessions are typically more persistent and frequent in OCD, whereas
among persons with ASD, they often demonstrate an influence driven by ri-
gidity and thus may only be triggered by an observed violation of their per-
ceived set of rules.
Another difference between repetitive thoughts and behaviors across OCD and
ASD is the content. Compared to individuals with OCD, those with ASD are less
likely to manifest obsessive thoughts or somatic symptoms, but they are more likely
to manifest behaviors of repetition, touching, hoarding, or self-injury (McDougle
et al., 1995). The content of obsessions in OCD is most frequently related to con-
tamination, repetitive doubts, need to arrange things in a specific way or order, or
superstitions (Paula-Pérez, 2013). This often manifests in compulsions involving
cleaning, checking, and counting. For individuals with ASD, however, the content
of their repetitive thoughts is typically related to their restricted interests (Paula-
Pérez, 2013). Further, in terms of their repetitive behaviors, individuals with ASD
more frequently engage in repetitive ordering, hoarding, tapping, touching and
rubbing behaviors, and self-stimulatory behaviors (e.g., hand-flapping, jumping)
(Ruta et al., 2010).
Symptoms that manifest as repetitive behaviors that cause distress if not exe-
cuted to completion are present in both OCD and ASD. This includes compul-
sions present in OCD and stereotyped behaviors in ASD. In order to differentiate
between OCD-related compulsions and the stereotyped behaviors of ASD, it is
critical to identify the function of these behaviors for the individual. Within the
context of OCD, repetitive behaviors can manifest in compulsive behaviors or
mental acts, and they are typically intended to decrease distress or anxiety that
a particular obsession provokes. However, these compulsions are either not real-
istically tied with what the individual fears (e.g., counting to prevent something
bad from happening) or the acts are clearly excessive in respond to the trigger.
163
Within the framework of ASD, however, stereotyped behaviors serve different

purposes. These repetitive behaviors are typically being performed to provide a
sense of comfort or self-soothing rather than to reduce anxiety (Cunningham &
Schreibman, 2008). While the frequency of repetitive behaviors may increase in
times of stress among those with ASD (Groden et al., 2005) and preventing the
behaviors may cause them distress (Turner-Brown et al., 2011), the connection
between any specific anxiety-provoking obsession and the behavior is less robust
(Mack et al., 2010). Additionally, individuals with ASD typically demonstrate less
awareness regarding their stereotypies compared to what is seen in compulsions
among those with OCD.
Autism Spectrum Disorder Versus Tourette’s Disorder
The presence of repetitive behaviors can also complicate differential diagnosis be-
tween ASD and TD, as stereotyped behaviors and tics can present similarly. When
differentiating between TD and ASD, important considerations include the con-
text and function of the behavior(s), the onset and presentation of the behavior(s),
and the presence of other symptoms.
While stereotyped behaviors and tics may initially manifest similarly, ul-
timately they differ in their purpose and in an individual’s experience of them
(Helverschou et al., 2011). Tics can be simple or complex and present in vocal or
motor forms. Simple tics involve one muscle group and are abrupt, brief, and re-
current movements or vocalizations that may appear meaningless. Complex tics
involve more than one muscle group, often appear purposeful or meaningful, and
may be more sustained. Stereotyped behaviors commonly observed in ASD may
serve as a strategy for pleasure and enjoyment or soothing, while tics, as seen in
TD, are usually performed in response to a physical sensation termed a premon-
itory urge.
While both stereotypies and tics are repetitive, stereotyped behaviors in ASD
are ritualistic, rhythmical, and purposeful, whereas tics are sudden, brief, irregular,
and involuntary. Unlike stereotypies, tics vary in intensity and are nonrhythmic
in nature. Additionally, stereotypies frequently involve the arms, hands, or en-
tire body, while tics are more commonly observed in the eyes, face, head, or
shoulders. Age of onset is another consideration, as tics typically manifest at 4–
6 years of age while stereotypies often begin earlier, typically during toddlerhood
(American Psychiatric Association, 2013). Further, while stereotyped behaviors
are consistent and fixed, tics evolve over time (i.e., change in severity and in af-
fected muscle groups and vocalizations).
It is also helpful to consider other features of both TD and ASD when trying
to correctly classify repetitive behaviors. Speech abnormalities such as coprolalia
are not characteristic of ASD but may present in TD. However, the resistance to
change and rigidity that are common features of ASD are somewhat distinct from
obsessive symptoms that regularly co-occur with TD (Ringman & Jankovic, 2000).
164
Clinical Case Study
Colin is a 9-year-old boy with above-average measured intellectual ability. Over

the past few years, his parents have recognized and become increasingly con-
cerned about his perfectionistic tendencies, repetitive thoughts, behavioral out-
bursts, and peer relationships. Despite doing well in school, his teachers and
parents note that he seems to have anxiety regarding his academic performance.
Colin takes a long time to complete assignments and tests. He checks answers re-
peatedly and is unable to skip problems when he is not sure of the answer, even
though he has been taught the strategy to skip and come back to these at the end.
He also prefers to complete work alone at school, even when he has the option to
work with his peers. Colin is generally well-behaved and follows the rules, and
when his peers or siblings break the rules, he becomes agitated and upset. Colin
also becomes frustrated when he is rushed or when there are changes in his rou-
tine or schedule. His parents are worried about his behavioral outbursts, which
often occur during meals, when he refuses to eat anything he thinks looks “dirty.”
Colin also takes a long time to complete his morning routines (e.g., trying on
clothes until he finds something that “feels right,” unpacking and repacking his
backpack, etc.). His parents also say that he has trouble going to sleep because
of his thoughts and bedtime rituals, and sometimes complains of “bad thoughts”
that upset him. Colin’s parents are increasingly concerned about his peer relation-
ships, and they feel that he has difficulty making friends.
Due to the overlap in symptoms between OCD and ASD, such as repetitive
thoughts and/or behaviors, fixations, or rituals, it can be difficult to differentiate
between the two. In the limited information offered about Colin’s case, it is im-
portant to note that the interests and behaviors of concerns seem to have appeared
within the last few years. No concerns have been raised by his parents about early
social communication problems. There are some concerns regarding peer rela-
tionships, but his obsessions and compulsions motivate his tendency to withdraw
from his peers. The affective experience is also important to consider, as Colin
considers his patterns of thoughts and behaviors to be intrusive and distressing,
not representing focused interests that he enjoys. Additionally, there appears to be
a functional link between Colin’s obsessions and compulsions; his behaviors were
intended to decrease the anxiety provoked by his thoughts. Despite this initial
conceptualization which attributes Colin’s symptoms to OCD rather than ASD,
a more comprehensive assessment using both targeted and systematic clinical
observations and well-validated assessment tools is recommended to parse out
symptoms and reach accurate diagnostic conclusions.
ASSESSMENT RECOMMENDATIONS
Evidence-based instruments are critical for ensuring accurate and reliable assess-
ment of symptomology (Cohen et al., 2013). In order to be evidence-based, meas-
ures and practices must demonstrate reliability and consistency in measuring
165
the symptom(s) and methodically and quantitatively tracking the symptoms

(McGuire et al., 2013). Further, they must assess the severity, associated impair-
ment, and changes in symptom(s) (McGuire et al., 2013). A number of well-
established measures for assessing ASD, obsessive-compulsive symptoms, and tics
with good psychometric properties are available (Jacob et al., 2009).
Measures for the Assessment of Obsessive-

Compulsive Disorder
Obsessive-compulsive symptoms can be assessed through a variety of methods,

including unstructured clinical interviews, standardized or semistructured inter-
views, and self-report measures of symptom severity (Rapp et al., 2016). The
Yale-Brown Obsessive-Compulsive Scale—First and Second Editions (Y-BOCS and
Y-BOCS-II; Goodman et al., 1989; Storch et al., 2010) and the Children’s Yale-
Brown Obsessive-Compulsive Scale—First and Second Editions (CY-BOCS; Scahill
et al., 1997; Storch et al., 2019) are often considered the “gold standard” meas-
ures for assessment of adult and child OCD symptoms, respectively. They are
semistructured interviews that assess the presence and severity of OCD symp-
toms over the past week and demonstrate good to excellent reliability and validity
(Scahill et al., 1997; Storch, Larson, et al., 2010; Storch, Rasmussen, et al., 2010).
Several additional semistructured diagnostic clinical interviews exist for youth
(e.g., Anxiety Disorders Interview Schedule—Child and Parent Versions [ADIS-
C/P], Kiddie Schedule for Affective Disorders and Schizophrenia—Present and
Lifetime Version [KSADS-PL], and Mini-international Neuropsychiatric Interview
for Children and Adolescents [MINI Kid]) and adults (e.g., Anxiety Disorder
Interview Schedule [ADIS], Schedule for Affective Disorders and Schizophrenia
[SADS], and Mini Neuropsychiatric Interview [MINI]) that can also be used for
the diagnostic assessment of OCD and other anxiety, mood, trauma, and related
disorders in adults.
In addition to clinical interviews, self-report measures (and parent-report
measures for assessment of OCD in children) have been developed and validated
in the assessment of OCD. Although not an exclusive list of available measures (see
Benito & Storch, 2011), several psychometrically sound options for assessing OCD
symptom presence and severity include the Yale-Brown Obsessive-Compulsive
Scale—Self-Report (Y- BOCS- SR; Baer et al., 1993), Obsessive-Compulsive
Inventory—Revised (OCI-R; Huppert et al., 2007), Florida Obsessive-Compulsive
Inventory (FOCI; Storch, Banger, et al., 2007), and Dimensional Obsessive-
Compulsive Scale (DOCS; Abramowitz et al., 2010). For assessment of childhood
OCD, the Child Yale-Brown Obsessive-Compulsive Scale—Child Report/Parent
Report (CY-BOCS-CR/PR; Storch et al., 2006), Obsessive-Compulsive Inventory—
Child Version (OCI-CV; Foa et al., 2010), Children’s Florida Obsessive-Compulsive
Inventory (C-FOCI; Storch et al., 2009; Storch et al., 2006), and Children’s
Obsessive-Compulsive Inventory—Revised (ChOCI-R; Shafran et al., 2003) are re-
commended (Foa et al., 2010; Storch et al., 2006, 2009; Uher et al., 2008).
16
Measures for the Assessment of Obsessive-Compulsive

Disorder Tailored for Autism Spectrum Disorder
Given the high rates of comorbidity among individuals with these disorders, mul-
tiple measures have been validated for assessing comorbid psychopathologies
and repetitive behaviors in both ASD and OCD. The Children’s Yale-Brown
Obsessive Compulsive Scale Modified for Pervasive Developmental Disorders
(CY-B OCS PDD) (Scahill et al., 2006) and the CY-BOCS for Children with
Autism Spectrum Disorder (CY-B OCS ASD) (Scahill et al., 2014) measure the
severity of repetitive behaviors in children (ages 5–17) who have ASD or other
neurodevelopmental disabilities. The CY-B OCS PDD is a semistructured in-
terview administered to the youth’s parent (Scahill et al., 2006). The CY-B OCS
ASD includes a 23-item symptom checklist and five severity scales: Time Spent,
Interference, Distress, Resistance, and Control. It also includes a five-component
system for classifying repetitive behaviors in ASD: hoarding and ritualistic be-
havior; sensory and arranging behavior; sameness and self-injurious behavior;
stereotypy; and restricted interests (Scahill et al., 2014). Both measures have es-
tablished reliability and convergent validity and are sensitive to change (Scahill
et al., 2006).
The Autism Spectrum Addendum to the ADIS-P (ADIS/ASA) (Kerns et al.,
2014, 2017) provides guidelines to assist in differentiating symptoms of anxiety
and OCD from ASD when administering the ADIS-P. The ADIS/ASA has good
psychometric properties overall (Kerns et al., 2017). Further, inter-rater agree-
ment was excellent for OCD specifically; however, the correlation between the
OCD module with other OCD measures was not reported (Kerns et al., 2017).
The Autism Comorbidity Interview— Present and Lifetime Version (ACI-
PL; Leyfer et al., 2006), a modified version of the Kiddie Schedule for Affective
Disorders and Schizophrenia (KSADS), is applicable for children and adolescents
(ages 5–17 years) with autism. The ACI-PL is a semistructured interview admin-
istered to the youth’s parents by a skilled clinician and measures rates of psychi-
atric comorbidities. It provides both lifetime and current disorder information.
It has established inter-rater reliability and concurrent validity for OCD (Leyfer
et al., 2006).
The Autism Spectrum Disorder—Comorbid for Children (ASD-CC; Matson et al.,
2009) is a 49-item scale with established reliability and construct validity used to
measure comorbid psychopathology in children with ASD. There is also the Autism
Spectrum Disorders—Comorbidity for Adults (ASD-CA; Matson & Boisjoli, 2008),
a 37-item scale which measures comorbid psychopathology in adults with ASD
and ID. It includes the following five subscales: Anxiety/Repetitive Behaviors;
Conduct Problems; Irritability/ Behavioral Excesses; Attention/ Hyperactivity/
Impulsivity; and Depressive Symptoms (Mannion & Leader, 2013). Inter-rater
reliability for the ASD-CA was established, and an exploratory factor analysis
identified five factors that were consistent with symptom clusters of known psy-
chopathology among individuals with ASD (Matson & Boisjoli, 2008).
167
Measures for the Assessment of Tics
TD can be assessed using semistructured interviews, clinician-rated scales, and

parent-and self-report scales. The Yale Global Tic Severity Scale (YGTSS), a
clinician-rated semistructured interview that measures tic severity and impair-
ment, is the most widely used measure for assessment of TD and other tic dis-
orders (Cohen et al., 2013; McGuire et al., 2018). The tool measures the number,
frequency, intensity, complexity, and interference of motor and phonic tics and
has good reliability and validity scores (Leckman et al., 1989). Tourette’s Disorder
Scale—Clinician Rated (TODS-CR; Shytle et al., 2003) is another clinician-rated
semistructured interview that can be used for assessment of TD and identification
of common comorbid conditions.
In addition to clinical interviews, several rating scales have been developed for
assessment of TD. Examples include Tourette’s Syndrome Severity Scale (TSSS;
Shapiro, 1984), Tourette’s Disorder Scale—Patient Rated (TODS-PR; Shytle et al.,
2003; Storch, Merlo et al., 2007), Hopkins Motor and Vocal Tic Scale (Singer &
Rosenberg, 1989; Walkup et al., 1992), Tourette’s Syndrome Questionnaire (TSQ;
Jagger et al., 1982), and Child Tourette Syndrome Impairment Scale (Storch, Lack
et al., 2007). Standardized video recordings are another option and allow clin-
icians to videotape subjects for at least 5 minutes and objectively count tic fre-
quency (Chappell et al., 1994).
CONCLUSIO NS
Differential diagnosis of ASD versus OCD or TD can be challenging due to

overlap in symptoms, particularly in terms of repetitive thoughts and behaviors.
The assessment process can be further complicated by communication difficul-
ties, comorbid intellectual disability, and poor insight (Jiujias et al., 2017; Kerns
et al., 2014). Despite these challenges, accurate differential or dual diagnosis is
critical for selecting and implementing the correct treatment approach. It is im-
portant for clinicians to consider a number of nuanced differences in repetitive
thoughts and behaviors across these disorders when differentiating between the
restricted, repetitive patterns of behaviors, interests, or activities in ASD; the ob-
sessions and compulsions in OCD; and the tics in TD. More specifically, clin-
icians must consider the behavioral content, function, and contexts in which
they manifest, as well as the related ostensible motivations, cognitions, and af-
fective experience.
Given the aforementioned challenges, it is important to use approaches and in-
struments that guide accurate differentiation. Clinical observations are often nec-
essary because the functions of certain behaviors, especially among individuals
with suspected ASD, are not always immediately apparent. Additionally, regard-
less of the reason for referral and age of the individual, it is important to consider
the possibility of any combination of ASD, OCD, and TD, especially in light of
168
shared psychopathology (Huisman-van Dijk et al., 2016). However, if there is no

evidence of repetitive thoughts or behaviors until after the first report of anxiety
symptoms, ASD is unlikely. In addition to observations and measures, the assess-
ment process should include thorough history-taking. Clinicians should probe
about early childhood social interest and communication skills as well as unusual
interests or behaviors.
CLINICAL DECISION TREES
Figures 8.1 and 8.2 provide clinical decision trees to aid in identifying ASD, OCD,
and Tourette’s disorder.
Repetitive thoughts (e.g., restricted interests or obsessions)

and behaviors (e.g., repetitive behaviors or compulsions) are
present.
Y
The repetitive thoughts are
likely reflective of restricted
There is anxiety/distress connected to the relevant stimuli. N interests or repetitive
behaviors within the
framework of ASD.
Y
Anxiety/distress is observed
Anxiety/distress is observed or reported when the
or reported in the presence stimuli is removed, but not
of the stimuli. in the presence of the
stimuli.
Y Y
The content of the thoughts/behaviors are related to

contamination, repetitive doubts, need to arrange things N
in a specific way/order.
There is a clear link between the repetitive thoughts (i.e.,

obsessions) and repetitive behaviors. The function is related
to preventing or reducing the discomfort of obsessions (i.e., N
performing the behavior leads to decreased distress rather
than for pleasure, enjoyment, or calming).
The repetitive thoughts are likely reflective of obsessions

within the framework of OCD.
Figure 8.1. Autism spectrum disorder (ASD) versus obsessive-compulsive

disorder (OCD).
169
Repetitive behaviors (e.g., repetitive

behaviors, compulsions, ortics) are present.
The repetitive behaviors are likely
Y reflective of repetitive behaviors
within the framework of ASD. These
behaviors cam typically be
The repetitive behaviors are controlled/interrupted. Additionally,
uncontrollable/unable to be interrupted they are constant and fixed in terms
N
(i.e., they will not cease with distraction or of their form and location and have
when engaged in activities) an earlier onset than tics (i.e., <3
years). Unlike tics, they do not
Y appear to follow a premonitory
urge.
The repetitive behaviors are brief and

N
irregular.
The repetitive behaviors have changed over

N
time (e.g., informor location).
The age of onset for the repetitive

behaviors is known.
Y
N
The age of onset for the repetitive

N
behaviors is >3 years of age.
The repetitive behaviors appear to follow a

N
premonitory urge.
The repetitive behaviors are likely

reflective of tics, as seen in Tourette’s
syndrome. Tics are variable, in voluntary,
sudden, brief, and irregular. They vary in
intensity and are non-rhythmic in nature.
Onset is typically around 5–7 years of age.
Figure 8.2. Autism spectrum disorder (ASD) versus Tourette’s disorder or chronic tic
disorder.
ACKNOWLEDGMENTS
This work was supported in part by a grant awarded to the last author by the Texas
Higher Education Coordinating Board.
170
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176

Posttraumatic Stress Disorder
SONJA SAQUI, BRIGID GARVIN, AND CONNOR M. KERNS ■
SUMMARY OF THE ISSUES
Throughout this chapter, the terms trauma and traumatic events will be used in-
terchangeably to describe events, or a series of reoccurring incidents, that threaten
the safety and well-being of a child. Childhood traumatic events can vary in in-
tensity and chronicity and can be characterized as direct harm (e.g., physical or
sexual abuse, domestic violence); exposure through war, natural disasters, or ac-
cidents; or absence of access to emotional, medical, or physical resources (i.e.,
neglect). Children are commonly exposed to traumatic events. In a study of over
1,400 children aged 9–16 years, 68% reported experiencing a traumatic event,
and of those, 37% experienced more than one (Copeland et al., 2007). Younger
infants and toddlers are also affected. Of 213 children aged 2–3 years, 14% expe-
rienced noninterpersonal trauma (e.g., accidental burns, serious falls, car acci-
dents), and 11.7% experienced family violence (Briggs‐Gowan et al., 2010). These
studies and others identify childhood as a period of particular vulnerability to
traumatic events.
Exposure to traumatic events can lead to the development of a specific trauma-
related disorder, such as posttraumatic stress disorder (PTSD), or a range of other
psychiatric conditions or negative sequelae (Cloitre et al., 2009). Researchers
have found that in response to a single traumatic event, 13.4% of children expe-
rience some symptoms of trauma, yet only 0.5% meet full diagnostic criteria for
PTSD (Copeland et al., 2007). However, rates of PTSD increase almost twofold in
children exposed to reoccurring or cumulative trauma (Courtois & Ford, 2009).
Nonetheless, exposure to even a single traumatic event can adversely affect the de-
velopment and subsequent functioning of a child, underscoring the need for sen-
sitive trauma-informed approaches (Hibbard & Desch, 2007; Kerns et al., 2015).
17
Autism Spectrum Disorder Versus PTSD177
RISK OF TRAUMA EXPOSURE IN CHILDREN WITH

AUTISM SPECTRUM DISORDER
Research suggests that children with developmental disabilities, such as autism

spectrum disorder (ASD), may experience heightened rates of trauma. According
to the 2011–12 U.S. National Survey of Children’s Health (n =95,677), children
with ASD were more likely to have experienced a single traumatic event and
twice as likely to have experienced four or more events as compared to their typ-
ically developing peers (Berg et al., 2016). Similarly, other research indicates that
children with ASD experience more frequent bullying (Maïano et al., 2016) and
increased adverse childhood experiences, particularly when they come from low-
income backgrounds (Kerns et al., 2017). In contrast, other studies found similar
rates of traumatic events (~9%) in children with and without ASD (Hoover &
Kaufman, 2018; Sullivan & Knutson, 2000). In sum, children with ASD are vul-
nerable to traumatic events at rates at least comparable to, and potentially higher
than, the general population. Thus, clinicians in the field will inevitably face the
diagnostic challenge of differentiating distinct and overlapping symptoms of ASD
and trauma-related disorders.
This chapter offers (1) an overview of psychological trauma in young and
school-age children to clarify areas of symptom overlap with ASD, (2) guidance
on the differentiation of overlapping symptoms, and (3) two case vignettes to il-
lustrate the process of differential diagnosis.
CHALLENGES TO DIFFERENTIAL DIAGNOSIS

OF TRAUMA RESPONSE AND AUTISM
SPECTRUM DISORDER
A Developmental Approach to Interpreting Trauma Response
The Diagnostic Statistical Manual of Mental Disorders, fifth edition (DSM-

5) integrates a developmental perspective that differentiates PTSD criteria
for young children (ages 6 years and younger). The primary clinical criteria,
which require experiencing or witnessing a traumatic event and resultant in-
trusive symptoms, are similar across the young child and standard criteria.
However, in young children, symptoms describing changes in cognition (e.g.,
numbing) and avoidance (e.g., social avoidance) are merged into one cluster,
and symptoms that require a high degree of introspection such as exagger-
ated negative beliefs, inability to recall trauma, and distorted cognitions are
excluded (Weathers et al., 2014). These criteria also acknowledge that young
children may express intrusive memories through play in a manner that is not
outwardly distressing and exhibit tantrums rather than reckless behavior and
self-harm (Trickery & Meiser-Stedman, 2019).
178
Differences Between Autism Spectrum Disorder

and Trauma
A child’s response to trauma may demonstrate significant overlap with symp-

toms characteristic of ASD. Deficits in a child’s social response, adaptive beha-
vior, emotional regulation, and communication can present in children with
ASD and those with a history of trauma (Van Scoyoc et al., 2018). Further, re-
petitive behaviors can be observed across both groups; however, subtle differ-
ences in the nature and quality of these behaviors may serve as key indicators
for clinicians.
Differences Between Autism Spectrum Disorder and

Trauma Response in Early Childhood
There is mounting evidence that exposure to traumatic or stressful events, even in

the first few years of life, can significantly disrupt cognitive, socioemotional, sen-
sory processing, and behavioral development. These disruptions may resemble
developmental differences representative of ASD, substantially complicating the
diagnostic process. Early exposure to abuse and neglect can significantly disrupt
working memory, suppress performance on cognitive tasks, and result in language
delays (Cowell et al., 2015; Eigsti & Cicchetti, 2004; Moffitt et al., 2003). However,
given the multiple etiologies for cognitive and language delays in young chil-
dren, the presence of one or both of these symptoms is not an adequate indictor
for a differential diagnosis of ASD (Charman et al., 2011). When considering
social-emotional development, deficits in theory of mind, emotion recognition,
and emotional dysregulation have been associated with early abuse and neglect
(Rokita et al., 2018) and reported in 80% of children age 4–6 with a trauma history
(Maughan & Cicchetti, 2002). Though many of the latter symptoms are observed
both in children with ASD and a history of trauma, deficits in joint attention may
be a unique indicator of ASD in young children (Dawson et al., 2004) not typically
reported in children with trauma (Van Scoyoc et al., 2018). Therefore, differences
in the quality and degree of impairment in social-communication skills, such as
joint attention, may help differentiate. The emergence of social-emotional symp-
toms is also key. Though very young children with a history of trauma engage in
frequent temper tantrums, intense fussiness, hypervigilance to danger, and ex-
aggerated fears following a traumatic event (Lieberman & Knorr, 2007; Pynoos
et al., 2009; Scheeringa et al., 2003), similar behaviors in children with ASD can
be observed prior to or in the absence of trauma (Kerns et al., 2014; Mazefsky
et al., 2013). There are also subtle but apparent sensory differences of young chil-
dren with trauma history compared to ASD. While children who experience early
trauma may misinterpret sensory stimuli (e.g., exaggerated startle response) or
demonstrate a reduced motivation for sensory exploration (American Psychiatric
Association, 2013; Pynoos et al., 2009), children with ASD may demonstrate
179
hypersensitivities and/or hyposensitivities to very specific noises, colors, textures,

and smells.
With regard to differences in behavioral features, one study reported almost
half (45.9%) of young children exposed to trauma who develop PTSD demon-
strated flashbacks and dissociative episodes (Cintron et al., 2018). Play or repet-
itive language produced by children with trauma often includes repetition and
revisitation of their traumatic experiences and may function as a way to pro-
cess the event (American Psychiatric Association, 2013; DeLoache et al., 2007).
Caregivers describe flashbacks as a re-experiencing of the trauma via verbalizing
or re-enacting trauma themes repeatedly in play (Cintron et al., 2018; Lieberman
& Knorr, 2007). These behaviors may resemble stereotyped speech and play
common in ASD; however, in a child with ASD, repetitive and ritualistic play is
not restricted to traumatic content, though such themes may arise (alongside pre-
ferred interests) if there is a trauma history. Rather stereotyped play and speech
in ASD will also or exclusively pertain to intense, enjoyable interests or repeti-
tive, nonimaginative and/or rote themes rather than traumatic memories (Hyun
Kim et al., 2014). A careful observation of the quality of the child’s play and play
themes is thus critical.
Other subtle but important differences can be observed in sleep routines, feeding
behaviors, and the acquisition of adaptive skills. Children who have experienced
trauma may demonstrate disrupted sleep routines, caused by fears or nightmares
featuring content that may or may not be trauma-specific (Pynoos et al., 2009).
In ASD, sleep disturbance is typically characterized as an insistence on bedtime
routines or inconsistent sleep schedules (Wiggs & Stores, 2004). Whereas chil-
dren with a history of trauma may engage in food hoarding, overstuffing, or have
seemingly insatiable appetites (Casey et al., 2012), in ASD overly selective food
preferences or a limited food repertoire may be present (Bandini et al., 2010).
Developmental skills regression, such as enuresis, encopresis, and the use of im-
mature language, may occur in young children with trauma exposure (Lieberman
& Knorr, 2007; Scheeringa et al., 2003). Young children with ASD may also
struggle with independent toileting (Gorrindo et al., 2012) or demonstrate de-
layed language acquistion (Fountain et al., 2012); however, this is not interpreted
as a regression associated with trauma exposure, but rather as a manifestation
of atypical neurodevelopment associated with the disorder (Thurm et al., 2018).
Given the many ways in which the responses of young children exposed to trauma
can mimic ASD symptoms, clinicians must carefully consider the child’s experi-
ences and interpret these nuances between symptoms.
The diverse effects of early trauma and the challenges they pose to ASD as-
sessment are poignantly illustrated by the study of young, adopted children who
experience severe, early deprivation. Findings indicate that these children can ex-
hibit symptoms paralleling autism such as stereotyped repetitive behaviors and
difficulties understanding social boundaries (Colvert et al., 2008; Hoksbergen
et al., 2005; Rutter et al., 1999). Studies of formerly institutionalized children
demonstrate a higher prevelance of autism-like symptoms as compared to the
180
population (16%), with approximately 6%–7% meeting full diagnostic criteria for
ASD (Hoksbergen et al., 2005). Nonetheless, reseach suggests that symptoms of
ASD and those of extreme deprivation and neglect can be distinguished. A perva-
sive pattern of symptomatology is evident in children later diagnosed with ASD.
In comparison quasi-autism patterns are typified as an emergence of symptoms
in response to early deprivation which often improve over time in nurturing en-
vironments (Hoksbergen et al., 2005; Rutter et al., 2007). Further, Mayes and
colleagues (2019) reported similar symptom profiles in children with ASD who
experienced severe neglect (n =80) as in those who developed in nurturing envir-
onments (n =700) and a near zero correlation between ASD symptoms and the
duration of and number of years since trauma exposure. Nonetheless, researchers
caution against conceptualizing autism symptoms in children who experienced
traumatic events as quasi-autism or transient autism in clinical practice as this
may lead to denial of timely evidence-based treatments and confusion about
prognosis (Mayes et al., 2019).
Differences Between Autism Spectrum Disorder and

Trauma Response in School-Age Children
Many distinctions between ASD and trauma response in early childhood are
applicable to school-age children, with some additional nuances. In school-age
children who have experienced trauma, socioemotional differences may be most
notable in peer attachment patterns. Children may become withdrawn from so-
cial activities or peers (De Young et al., 2011), or lack interest in joining new
age-appropriate activities (Pynoos et al., 2009). Though poor social competence
and withdrawal are core features of ASD, difficulties are typically present prior
to school age, rather than emerging or worsening as a result of traumatic events.
Similar to early childhood, school-age children with trauma may repetitively ex-
press or re-enact their experiences through complex play scenarios that include
rescue or protective strategies (Cohen, 2010; Pynoos et al., 2009). In contrast,
school-age children with ASD often struggle broadly with complex or imaginative
play themes. School-age children’s affective and behavioral responses to trauma
may include heightened irritability (Van Scoyoc et al., 2018), hypo-or hyperac-
tivity (De Young et al., 2011), aggression, oppositional behaviors (Turner et al.,
2006), and a flat or negative affect (Jones & Cureton, 2014; Pynoos et al., 2009).
These reactions may resemble the rigidity or emotional dysregulation observed in
ASD (Koenig et al., 2000). However, dysregulation related to trauma likely rep-
resents a change in functioning following exposure. School-age children with a
trauma history tend to underperform on tests or homework and appear less en-
gaged academically (Bethell et al., 2014). Given the high rates of cognitive, atten-
tional, and academic achievement deficits in ASD (Charman et al., 2011; Kim
et al., 2018; Sasson et al., 2008), these symptoms are unlikely to be meaningful
indicators of either diagnosis but merit attention when treatment planning.
18
A Framework for Differential Diagnosis
We have organized overlapping presentations under broad ASD criteria (see

Table 9.1) and provided a framework, informed by prior work (Flackhill et al.,
2017; Moran, 2015; Stavropoulos et al., 2018) and DSM-5 criteria, to inform dif-
ferential diagnosis of ASD and trauma-related disorders. A careful exploration of
atypical social interaction, play, and affectual response, as well as dysregulation
of behavior or arousal, is outlined. This organization may be particularly helpful
when faced with questions surrounding an ASD diagnosis in childhood in the
context of a known trauma history.
In addition, some overarching considerations may guide differential diagnosis.
Questions surrounding symptom onset may differentiate ASD from trauma-
activated responses. Given the neurodevelopmental etiology of ASD, symptoms
are thought to manifest early in development. In contrast, a traumatic response is
precipitated by a stressor or traumatic event. Thus, information surrounding the
child’s early developmental period and symptom onset is arguably essential when
parsing diagnoses. Additionally, the episodic and intrusive nature of traumatic
memories in PTSD, as observed in a child’s play and language, separates it from
other disorders (Trickery & Meiser-Stedman, 2019). In contrast, the presence of
atypical behavior and social deficits in children with ASD is pervasive across con-
texts and over time. Understanding where symptom overlap is likely, while evalu-
ating the quality, frequency, function, and chronicity of overlapping symptoms,
appears to be a key consideration in the diagnostic process.
Table 9.1 Overlapping Presentations of Autism Spectrum Disorder and

Trauma Response
Autism Spectrum Trauma- Guidance to Parse the

Disorder Activated Overlap
Response
Social Communication and Interaction
Atypical social Low social Social withdrawal Deficits in nonverbal
interaction motivation Socially aware communication (e.g., lack
Pervasive/ but hesitant of joint attention, absent
pronounced to engage or poorly coordinated
deficits in verbal Hypervigilance gestures) are features
and nonverbal to attachment of ASD not typically
social skills figures associated with trauma
Limited social response. In ASD there is a
quality to struggle to understand and
interactions apply appropriate social
skills, despite exposure to
appropriate social modeling
and social environments.
(continued )
182
Table 9.1 Continued

Response
Atypical social Failure to recognize Dissociation In ASD the atypical response
response social cues may relate to difficulty
Decreased response perceiving social bids
to cues for or social cues, whereas
attention or social in trauma there may be
engagement (e.g., a loss of awareness of
responding to surroundings that may
name) serve a protective function
(e.g., escaping intrusive
memories or dissociation).
Restricted and Repetitive Patterns of Behavior, Interests, or Activities
Atypical Echolalia, Related to trauma Stereotyped, nonfunctional
language repetitive, or trauma and echolalic speech that
noncontextual, themes does not relate to trauma
nonfunctional themes is a specific (but not
Related to sufficient) indicator of ASD.
specialized
and/or intense
interests
Atypical play Repetitive, Re-experiencing Intrusive trauma-related
ritualistic of trauma or themes may drive the
Restricted to trauma themes behaviors dominating
specialized and/ Strong but play (e.g., repeating a play
or intense interest functional scenario that illustrates
Nonfunctional interest in a traumatic event) and
comfort items language. In ASD repetitive
themes will typically relate
to an intense interest or
have an unclear meaning/
function.
Atypical May demonstrate Extreme response In trauma the child may
environmental exaggerated to stimuli/ demonstrate extreme
response response to triggers sensitivity to and/or
specific sensory associated with response to trauma-related
stimuli (e.g., a trauma history triggers. In ASD there may
particular sound be an extreme response to
or texture) sensory stimuli that is not
trauma-specific.
183
Table 9.1 Continued

Response
Other Symptom Presentation: Not diagnostic markers of either disorder but are
important considerations for case conceptualization and treatment recommendations
Sleep Insistence on Difficulty/fear In ASD sleep disturbance may
dysregulation routines around sleep be related to insistence on
Inconsistent sleep Difficulty sleep routines and ongoing
patterns or need staying asleep sleep difficulties in the
for very little (nightmares) absence of sleep-related
sleep fears or the presence of
nightmares. In trauma there
may be intrusive memories
or stimuli triggered around
bedtime, separation anxiety,
and/or the presence of
nightmares.
Irritability/ Distress with small Distinct change In trauma there may be a
challenging changes in ability change or worsening in
behavior Adherence to to regulate behavior (e.g., increased
nonfunctional behavior and irritability) while children
routines (e.g., emotions with ASD may have
repeated persistent difficulty
grouping of toys) regulating or have a response
to seemingly innocuous
stimuli (e.g., changing the
route to school).
Dysregulated Intense attention to Distracted by A change in attention such

attention strong interests intrusive as a decrease in academic
with limited trauma functioning or cognitive
attention to social memories processes may result
and nonpreferred Decrease in following trauma versus
routines academic persistent interest-driven
Perseverate on engagement or detail-oriented attention
restricted themes or previous dysregulation in ASD.
or parts/details of interests In ASD feeding difficulties
objects Hoarding, may relate to sensory
Food selectivity; overstuffing concerns or rigidity. In
limited food trauma the difficulty may
repertoire reflect past food insecurity
Texture-related and act as a protective
food preference measure.
or aversions
ASD: autism spectrum disorder.

184
To clarify the utilization of the above framework, we have included two case vi-
gnettes in which clinicians faced a differential diagnosis of ASD in children with
trauma histories.
CASE VIGNETTE 1
Presenting Concerns
Nicole is a 3-year, 11-month-old female referred for evaluation by her early inter-
vention providers to evaluate symptoms of ASD. At that time, she was in the care
of her maternal aunt following a history of social, physical, and emotional neglect.
History
Prenatal history was complicated by maternal diabetes, hepatitis B, and hyper-

tension. Nicole was born at 38 weeks gestation at 6 pounds, 9 ounces. Nicole re-
mained with her biological mother from birth to 20 months, and little is known
about the acquisition of early developmental milestones. At 20 months of age,
Nicole entered into kinship care with her aunt following a child welfare report.
Early intervention services initiated at 20 months included speech and language,
occupational, and behavioral therapy.
Nicole received two prior evaluations, one to determine early intervention
eligibility (31 months old) and a second to assess for ASD (37 months old).
Combined results indicated significant deficits in cognitive, communication,
social-emotional, and adaptive behavior domains, ranging from two to three
standard deviations below the mean on the Battelle Developmental Inventory-
2. The Autism Diagnostic Observation Schedule, Second Edition (ADOS-2) in-
dicated decreased use of eye contact, self-injurious behavior during tantrums,
and limited response to her name and other social initiations. Nicole was ob-
served to use simple phrases, watch peers’ play, and play with age-appropriate
toys. Examiners were hesitant to diagnose ASD due to Nicole’s complicated early
psychosocial history, its potential impact on her current constellation of symp-
toms, and their interpretation that her social deficits were not obviously distinct
from weaknesses in other developmental areas. Nonetheless, after 10 months of
continued early intervention support, Nicole was referred for a follow-up evalu-
ation by her team to address ongoing concerns with social, communicative, and
behavioral development.
Assessment Battery
The assessment included a clinical interview with Nicole’s aunt, Ms. Thomas;
a caregiver-
report measure (Autism Spectrum Rating Scale [ASRS]); and a
185
semistructured, behavioral observation of ASD in children with phrase speech

(ADOS-2, Module 2).
Assessment Results
Clinical Interview
Ms. Thomas reported that Nicole’s biological mother rented a room in a boarding
house where Nicole was often left alone for extended periods. The room was dark,
poorly ventilated, unsanitary, and Nicole spent most of her day in a small crib
with little sensory stimulation or social interaction. Nicole’s mother engaged in
drug use and prostitution, which occassionaly occurred in the room with Nicole
present. There was no documented medical care, and Nicole had contact with her
aunt only twice during this period. During both visits, Ms. Thomas noted that
Nicole appeared unclean and socially withdrawn.
After Nicole came into her care, Ms. Thomas noted the emergence of single
words by age 30 months, followed by phrases and functional gestures (pointing)
by 42 months. Ms. Thomas reported the use of repetitive language in the form of
scripting television shows and echoing other people. Nicole’s atypical play pattern
included a tendency to bring stuffed animals from room to room, place them in a
circle around her, and repeatedly reposition them. Atypical eating habits included
difficulty regulating food intake and a tendency to overstuff her mouth.
Ms. Thomas indicated that Nicole was easily overwhelmed in crowded settings,
presented with an exaggerated startle response to loud noises, and was sensitive
to light. She insisted on wearing sunglasses when leaving the home, regardless of
the weather. Aversion to specific sounds, such as the “Happy Birthday” song, were
noted. Sensory-seeking behavior included mouthing of nonedible objects and in-
tense, prolonged play with water.
Nicole had a strong response to visits with her biological sister, who was in the
care of another family member. During visits, Nicole often made statements like
“I don’t have a sister!” and was aggressive toward her. Separating from her aunt
was challenging for Nicole. Positively, Ms. Thomas reported Nicole had made
progress through early intervention, despite her history.
Caregiver Report Measure

Per her aunt’s report on the ASRS, Nicole demonstrated elevated levels of dif-
ficulty in both Social Communication and Unusual Behaviors related to ASD.
Elevated levels were also noted in the total score and DSM-5 scale.
Direct Assessment and Examiner Observations

Nicole used three-to four-word phrases and sentences, along with simple com-
municative gestures, although her vocal tone was atypical in pitch and prosody.
Nicole’s use of eye contact, response to her name, response to yes/no questions
and choices, and response to others’ efforts to engage her socially were notably
inconsistent. Further, Nicole was observed to echo language, use nondirected
186
scripted phrases from cartoons, and engage in pronominal reversal. Some rela-
tive strengths included initiating joint attention twice and functional play skills
(e.g., bouncing balls, using a toy cell phone, activating cause/effect toys) with
some emergent but rigid imaginative play (e.g., insisting on repeating the steps
to a make-believe routine). Other behaviors included difficulties transitioning be-
tween activities, peering at toys and toy parts (e.g., wheels), hand flapping when
excited, and a desire to wear sunglasses inside. These behaviors did not interfere
with the ADOS-2 assessment or Nicole’s ability to play functionally. The results of
the ADOS-2 yielded a score above the cutoff, with a comparison score noting a
high level of autism spectrum-related symptoms.
Taken together, these results suggest not only developmental differences consistent
with the effects of trauma but also social, communicative, and behavioral features
that are more appropriately explained by an underlying ASD. Trauma-related symp-
toms include Nicole’s atypical mealtime behavior, characterized by her tendency to
overstuff or hoard food (a likely response to inconsistent access to food in the past),
her distressed response to her sister (a potential reminder of past trauma), and the
behavioral dysregulation and separation anxiety she experiences in response to her
aunt (potential repercussions of the disrupted or limited attachment that occurred
between Nicole and her caregiver as a young child). In addition, other behaviors
that seem specifically related to ASD include atypical language development, in-
cluding noncontextual and scripted language, pronominal reversal, echolalia, and
an unusual pitch and prosody to her speech, and repetitive and stereotyped play.
Notably, Nicole’s repetitive play was absent of themes related to her trauma history.
Lastly, Nicole’s tendency to seek out certain sensory experiences (playing exces-
sively with water and peering or visually inspecting objects from different angles)
was suggestive of behaviors more exclusive to ASD.
The examiners conceptualized another group of behaviors as examples of shared
symptomology. These behaviors included a history of language, behavioral, and
cognitive delays; challenges with reciprocal social interactions; decreased eye con-
tact; a strong attachment to specific toys; inconsistent sleep patterns; the presence
of repetitive motor movements; and challenges regulating frustration. In addi-
tion, Nicole’s sensitivity to light and insistence on wearing sunglasses may have
been related to the experience of spending the first 20 months of life in a dark
room with minimal exposure to the sun or strong lighting.
CASE VIGNETTE 2
Presenting Concerns
Jessica is a 2 year, 10-month-old female referred to a community clinic by her pe-

diatrician. Concerns included delays in development and challenging and atypical
187
behaviors, including decreased eye contact, delayed language, body rocking when
upset or when falling asleep, low frustration tolerance, atypical fears, and unusual
feeding patterns.
History
Jessica was born full term following a pregnancy complicated by in utero drug
exposure. There was limited information about prenatal care or the extent of
drug exposure during pregnancy. Jessica’s medical history was significant for
an adenoidectomy, tonsillectomy, bilateral ear tube placement, and delayed de-
velopment. She walked at 15 months, used single words at 24 months, and used
two-word utterances at 30 months. Jessica remained in her biological mother’s
care until 4 months, when she was removed due to reported neglect. She spent
16 months with one foster family, before she was removed due to maltreatment.
She entered the care of her current foster mother at 20 months. At the time of this
evaluation, Jessica was in speech, occupational, and physical therapy, all of which
began at 24 months.
Assessment Battery
The assessment included a clinical interview with Jessica’s foster mother,

Ms. Smith; a developmental inventory (Bayley Scales of Infant and Toddler
Development, Third Edition [Bayley, III]); caregiver report measures of social-
emotional and adaptive behavior development (Bayley-III Social-Emotional and
Adaptive Behavior Questionnaires, the Behavior Assessment for Children, Third
Edition [BASC-3]); and a semistructured, behavioral observation of ASD in chil-
dren with phrased speech (ADOS-2 Module 2).
Assessment Results
Clinical Interview
While with her biological mother, Jessica spent much of the day outside in a park
where her mother used drugs. When removed by child welfare, Jessica had skin
rashes and sunburn from exposure to the elements. When in her care, Ms. Smith
noticed that Jessica presented with limited eye contact, delayed speech, atypical
feeding habits (a tendency to overstuff her mouth to the point of vomiting), and
specific and unusual fears (touching water and the sound of rain). Ms. Smith also
reported concerns with Jessica’s ability to bond with her foster family, a tendency
to shy away from physical contact, and repetitive behaviors (removing all of her
clothing from her drawers only to replace them again repeatedly).
Ms. Smith noted Jessica’s difficulty regulating her frustration, a tendency to be
overly possessive of toys, and a tendency to become aggressive if others played in
her space. However, over time, Jessica’s play, social, and language skills improved
18
and included functional play with toys, emerging pretend play, well-developed
gestures (pointing, nodding, and shaking her head), a range of facial expressions,
and the use of simple phrases. Jessica eventually developed an intense attachment
to one foster sibling, which resulted in difficulties when separated for bedtime or
individual appointments. Jessica completed toilet training just prior to the evalua-
tion and was developing other self-care skills, including self-feeding and assisting
with dressing and washing. Ms. Smith expressed ongoing concern with Jessica’s
tendency to engage in repetitive rocking back and forth when calming herself
after a tantrum or when falling asleep at night.
Caregiver Report Measures

Per her foster mother’s report on the Bayley-III, Jessica demonstrated social-
emotional behavior within the expected range and adaptive behavior well below
the expected range. Responses to the BASC-3 indicated notable challenges in ex-
ternalizing behaviors, adaptive skills, sustained attention, and social engagement.
Direct Assessment and Examiner Observations

Jessica initially presented as a quiet and shy child, though over time her verbal and
nonverbal communication and engagement improved substantially. Jessica dem-
onstrated the ability to follow most simple directions, respond to joint attention,
engage with toys functionally, initiate pretend play, and engage Ms. Smith to show
her toys and share interests. She integrated verbal language and gestures consist-
ently and used purposeful eye contact many times to initiate with and respond
to others socially. Jessica struggled with inattention, regulating her impulses, and
insisted on controlling play in a self-directed manner (instructing the examiner as
to her role during make-believe activities). She did not demonstrate any sensory
aversions, sensory-seeking behaviors, or stereotyped or repetitive play or speech.
Cognitive and language development as measured by the Bayley-III fell within the
expected range, while motor skills fell one standard deviation below the mean,
indicating deficits. The results of the ADOS-2 yielded a score equivalent to the
cutoff, with a comparison score suggesting a low level of autism spectrum-related
symptoms.
The examiners concluded that while Jessica presented with specific behaviors and
skill deficits similar to those observed in young children with ASD, she possessed
several other skills and behaviors that counterindicated this diagnosis. Moreover,
many of her developmental differences were appropriately explained by her com-
plicated psychosocial history; namely neglect, possible physical abuse, and a
history of interrupted caregiver attachment. Likely trauma-related symptoms in-
cluded the delayed acquisition of language milestones, difficulties with behavioral
regulation (self soothing by rocking back and forth), difficulties developing social
relationships (a likely result of disrupted attachment patterns), and atypical fears
of water and rain (a possible result of prolonged exposure to the elements). Similar
to the first vignette, Jessica’s difficulty regulating her food intake represented a
189
likely response to inconsistent access to food in the past. Importantly, many of

the early concerns related to social communication and social reciprocity miti-
gated over time, according to caregiver report. Behaviors inconsistent with ASD
included intact joint attention skills, flexible and functional communication skills,
a strong communicative intent, and age-appropriate functional, imaginative, and
reciprocal play. Notably, these strengths were observed in the absence of patterns
of stereotyped or repetitive behavior or speech.
SUMMARY, CONCLUSION, AND FUTURE DIRECTION
The differential diagnosis of ASD and trauma-related symptoms in children is

challenging, given considerable symptom overlap. Both ASD and early trauma
can impact cognition, adaptive skills, attention, and overall development; both are
associated with dysregulation of attention, emotion and sensory processing; both
can diminish social engagement, reciprocity, and communication; and both can
result in unusual repetitive motor movements, play, and behavior. To distinguish
conditions, clinicians must move beyond broad domains of impairment to con-
sider nuances in symptom expression, function, developmental trajectory, and
severity, and accept that some symptoms offer little in terms of differentiation.
A systematic approach to navigating this overlap is to (1) determine whether
the child meets full criteria for an ASD diagnosis, (2) identify which of these
symptoms are specific to ASD and which might be explained by the child’s trauma
history, and (3) assess whether the quality, severity, developmental trajectory, or
apparent function of overlapping symptoms is unclear or instead suggestive of
either ASD or trauma. When ASD is present, the social communication deficits
and repetitive behavior and interests that define this disorder will be persistent
and pervasive, rather than episodic and constrained to situations, experiences,
and stimuli associated with past trauma.
The process of differential diagnosis is important not only to determine if a child
with a trauma history should be diagnosed with ASD (as detailed in this chapter)
but also to assess for symptoms of trauma in a child with a prior ASD diagnosis,
an important future direction in research and consideration for treatment pla-
nning (Kerns et al., 2020). It is critical not to overpathologize children with ASD
by misclassifying symptoms better explained by ASD as signs of trauma. However,
trauma-related symptoms may be missed in children with ASD due to symptom
overlap, the inability of some children with ASD to effectively communicate their
thoughts and expereinces, and a possibly distinct, and less recognizable trauma
response (Kerns et al., 2015). Improving our understanding of the manifestation
and effective measurement of trauma-related disorders in individuals with ASD
is thus a key priority for future research (Hoover, 2015; Kerns et al., 2015, 2020;
Rumball, 2018). Efforts to validate trauma symptom scales for use in ASD are un-
derway (Hoover & Romero, 2019; Kerns et al., 2019). A systematic approach to
assessment, as presented herein, is recommended in the current absence of valid-
ated measures, and it is likely to be helpful for interpreting and integrating future
190
measures with clinical judgment, observation, and developmental history as part

of multimethod and multi-informant evaluation.
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10
Autism Spectrum Disorders

Versus Genetic Syndromes
J A M I E C A PA L A N D S H A FA L I J E S T E ■
INTRODUCTION
Neurodevelopmental disorders (NDDs) are a group of conditions that result in

delays or deviations in development and behavior, and they include global de-
velopmental delay (GDD), intellectual disability (ID), autism spectrum disorder
(ASD), and attention-deficit/hyperactivity disorder (ADHD). These conditions
frequently co-occur, with prevalence of up to 3% (Baio et al., 2018; Mefford et al.,
2012; Shaffer et al., 2005; Tirosh & Jaffe, 2011).
At least 30% of NDDs are suspected to have a genetic underpinning (Retterer
et al., 2016). Studies have previously identified over 500 genes associated with
NDDs, ASD, and/or GDD/ID (Abrahams & Geschwind, 2008; Betancur, 2011;
Mefford et al., 2012). Genetic variants range from single nucleotide variants (SNVs)
affecting only one or a few base pairs to copy number variants (CNVs), which
encompass much larger nucleotide changes. CNVs, although often occurring
in noncoding regions of DNA, have been implicated in overall risk for NDDs
(Geschwind & State, 2015; Vorstman et al., 2017). Genetic variants can be either
rare or common and can also be inherited or occur spontaneously. Common vari-
ants are present in greater than 1% of the general population due to common
ancestry, while rare variants are present in less than 1% of the general population.
Studies performed in individuals with ASD have found that rare genetic variants
account for 10%–30% of cases (Buxbaum, 2009; Ronemus et al., 2014; Sanders
et al., 2015). In addition, common genetic variation has been shown to contribute
to ASD risk (Gaugler et al., 2014; Klei et al., 2012; Leppa et al., 2016; Pinto et al.,
2014; Sanders et al., 2015). Recurrent CNVs, either inherited or de novo, are im-
plicated in areas of the genome associated with single-gene disorders for NDDs.
In addition to the many copy number variants increasing overall risk for NDDs,
numerous single genes have been implicated in ASD and ID. Several that will
196
be discussed later in the chapter appear to affect specific molecular pathways in-
volved in synaptic development and plasticity (e.g., SHANK3, Fragile X) (Bassell
& Warren, 2008; Bear et al., 2004; Murdoch & State, 2013). Although individually
rare, together these single-gene disorders account for approximately 10%–20% of
cases of ASD (Abrahams & Geschwind, 2008).
Despite a presumed significant influence of genetic abnormalities underlying
NDDs, genetic testing has been underutilized (Kiely et al., 2016; Vande Wydeven
et al., 2012). In a U.S. telephone-based survey of parents and guardians of children
with NDDs, only 32% had a history of genetic testing (Kiely et al., 2016). Of those
who had genetic testing, children with a combination of ASD and ID were seven
times more likely to have had testing compared to children with ASD without ID
and more than twice as likely as those with ID only. Higher odds of genetic testing
were associated with prior specialist care, highlighting the importance of early
referral to a neurodevelopmental specialist.
CLINICAL GENETIC TESTING RECOMMENDATIONS
Guidance on genetic testing in the evaluation of NDDs has evolved over the past
20 years with advances in genetic technology, and many professional organiza-
tions now advocate for the use of genetic testing in this population. Guidelines
published by multiple groups, including the American Academy of Pediatrics,
American College of Medical Genetics, and American Academy of Neurology,
recommend chromosomal microarray (CMA) and Fragile X testing as first-tier
diagnostic tests for children with unexplained GDD/ID with or without ASD
(American Academy of Pediatrics, 2013; Manning & Hudgins, 2010; Michelson
et al., 2011; Miller et al., 2010; Moeschler et al., 2014; Schaefer et al., 2013). In
specific situations, metabolic, mitochondrial, or targeted single-gene testing may
be indicated (Moeschler et al., 2014; Schaefer et al., 2013). This tiered approach to
testing has revealed an underlying genetic abnormality in up to 40% of affected
individuals (Schaefer et al., 2013). Additionally, the American College of Medical
Genetics recommends CMA for individuals with ASD, with additional testing
for Fragile X in boys and Rett syndrome (MECP2 sequencing) in girls (Shaffer
et al., 2005).
CMA has replaced previously recommended G-banded karyotyping due to its
higher yield (15%–20%) for detecting genetic abnormalities and is recommended
for individuals with NDDs and congenital anomalies, such as structural heart
defects, neural tube defects, or other birth defects (Battaglia et al., 2013; Filipek
et al., 2000; Johnson et al., 2007; Manning & Hudgins, 2010; Miller et al., 2010;
Moeschlerl et al., 2014; Shaffer et al., 2005; Shevell et al., 2003). According to pub-
lished guidelines by the American Academy of Neurology and Child Neurology
Society, CMA was diagnostic in 7.8% of individuals with GDD/ID compared to
4% with G-banded karyotyping, and 3.5% with subteloremic fluorescence in situ
hybridization (FISH). In addition, targeted testing for X-linked genes in males
with an appropriate family history yielded abnormalities in 42%. CMA includes
197
Autism Spectrum Disorder Versus Genetic Syndromes197
array comparative genomic hybridization (aCGH) and single-nucleotide pol-

ymorphism (SNP) genotyping and allows for testing simultaneously across the
genome. CMA is better able to detect submicroscopic deletions and duplica-
tions and is recommended as a first-tier test in detecting copy number variants
(CNVs) in individuals with NDDs. However, CMA is unable to detect balanced
chromosomal rearrangements, mosaicism, and uniparental disomy. Balanced re-
arrangements, which can include balanced translocations, insertions, or balanced
inversions, make up approximately 1% or fewer of cases with a normal CMA (Bi
et al., 2013; Gekas et al., 2011; Pickering et al., 2008). Karyotyping still has its place
in the diagnostic algorithm and should be considered in cases of possible Down
syndrome, family history of a chromosomal rearrangement, or a history of mul-
tiple miscarriages.
Whole exome sequencing (WES) is used to detect single nucleotide variants
(SNVs), CNVs covering multiple exons, and small insertions and deletions and
is a valuable test for NDDs that have remained unidentified by previous genetic
testing (Krumm et al., 2012; Miller et al., 2010; Retterer et al., 2016; Rossi et al.,
2017; Vissers et al., 2016; Vorstman et al., 2017). Several studies using WES have
identified a cause in up to 61% of individuals with NDDs based on the clinical
profiles of the individuals (Loviglio et al., 2016; O’Donnell-Luria & Miller, 2016;
Retterer et al., 2016; Xiao et al., 2018). Current limitations for WES include the
inability to detect CNVs in some cases due to some methodological factors such
as the fact that the exons that are captured in WES are often noncontiguous, thus
not fully capturing a full segment of the chromosome that is deleted or duplicated.
Studies have indicated that combining WES with CMA provides a better detec-
tion rate for both SNVs and CNVs (Dharmadhikari et al., 2019). The NDD Exome
Scoping Review Work Group advocates for WES as first-tier test for individuals
with unexplained NDDs, showing that WES can identify a high number of ge-
netic abnormalities (30%–43%) compared to CMA (15%–20%) (Srivastava et al.,
2019). If WES is nondiagnostic, the group recommends proceeding to CMA and
then subsequent testing as necessary, such as Fragile X testing, metabolic, mito-
chondrial sequencing, and karyotyping. The group also recommends reanalyzing
WES every 1–3 years if testing continues to be nondiagnostic, as this has shown to
increase the diagnostic yield by 10%–16% (Al-Nabhani et al., 2018; Basel-Salmon
et al., 2019; Wenger et al., 2017).
Whole genome sequencing (WGS) is the most comprehensive test to date, ena-
bling analysis of the entire genome. However, due to low precision and sensitivity,
lack of normal variant databases, cost, and limited standardization, WGS is not
routinely used in clinical practice (Noll et al., 2016).
SUMMARY OF GENETIC TESTING RECOMMENDATIONS
Currently, CMA is considered the first-tier diagnostic test for an individual with
an NDD. However, when able, WES should be considered prior to CMA or in
combination when WES platform is unable to include detection of CNVs. In cases
198
Individuals with GDD/ID

w/wo ASD
History
Prenatal/birth hx
Developmental hx
Family hx
Comorbid medical conditions
Neurologic exam
Perform metabolic screening labs:

Serum amino acids Concern for metabolic disorder
yes
Urine organic acids
Acyl carnitine profile No
Lac/pyr
Ammonia Pursue specific
Recognized genetic syndrome
genetic testing
yes
Consider No
Congenital disorders of glycosylation
Creatine transport disorders
History of multiple miscarriages
G-banded karyotype
Concern for balance translocation
yes
No
WES w/wo CMA* Stop testing

positive
negative
Fragile X testing
Mito DNA testing
X-linked ID testing?
MECP2
negative
WGS?
Re-analyze WES in 1–3 years
*If insurance will allow WES as first-tier; if not,

then perform CMA as first-tier test
Figure 10.1. Genetic testing algorithm.
where there is concern or suspicion for small CNVs, trinucleotide expansion dis-
orders, or balanced chromosomal rearrangement, additional testing such as G-
banded karyotyping, FISH, FMR1 CGG repeat expansion analysis, or PCR-based
single-gene testing can be considered (Bowling et al., 2017). For a testing algo-
rithm, see Figure 10.1.
BASIC CLINICAL PRINCIPLES OF GENETIC SYNDROMES
There are some basic clinical principles that are helpful to understand in consid-
ering the value and clinical implications of genetic testing. When genetic variants
or mutations are identified, they help to determine the underlying etiology of the
neurodevelopmental disorder. These genetic changes can be considered clinical
“syndromes” when they are associated with a constellation of clinical features. In
fact, historically, syndromes were often identified before a genetic etiology was
known, based purely on the clinical features that unified a group of children (e.g.,
19
facial dysmorphology). With rapid advances in molecular genetics and increasing

availability of genetic testing, syndromes are now often defined by the genetic
etiology, with common features being appreciated after data from a sufficient co-
hort of individuals with a common molecular diagnosis are collected. Some refer
to the genetically defined NDDs as “syndromic NDDs,” and this nomenclature
has significance in that it does usually herald certain clinical symptoms that dis-
tinguish individuals from idiopathic, or nonsyndromic, NDDs. In large genetic
cohort studies of ASD, children with causative genetic variants (syndromic ASD)
have more motor impairment, evidenced by a later age of walking, and have lower
cognitive function overall (Bishop et al., 2017; Geschwind & Levitt, 2007; Havdahl
et al., 2020; Sztainberg & Zoghbi, 2016). Genetic syndromes are also more often
associated with co-occurring medical diagnoses, particularly neurological condi-
tions such as epilepsy, as will be described below in our examples of specific syn-
dromes highly penetrant for NDDs. Awareness of these co-occurring diagnoses
guides and improves clinical monitoring once a genetic diagnosis has been made.
It must be reinforced that a genetic diagnosis does not preclude a
neurodevelopmental diagnosis. Diagnoses such as ASD, GDD, and ID are based
on a constellation of behaviors and developmental features as defined by the
Diagnostic and Statistical Manual of Mental Disorders (DSM). The molecular di-
agnosis only elucidates underlying etiology and sheds light on other clinical fea-
tures or co-occurring conditions to monitor. Although this distinction between
behavioral/developmental and genetic diagnosis may seem obvious, children with
known genetic syndromes may fail to receive NDD diagnoses or experience de-
lays in obtaining these designations. Parents often will report that they are told
by their health care or educational provider that their child does not have autism
because he or she has a specific genetic syndrome. This misconception seriously
undermines a family’s ability to access necessary interventions or services that
rely on a neurodevelopmental diagnosis. Therefore, when a child has a genetic
syndrome, families are encouraged to pursue formal developmental and/or neu-
ropsychological testing to confirm the NDD that best represents the clinical pro-
file of the child.
WHY GET GENETIC TESTING?
One of the most common questions medical providers are asked when recom-
mending genetic testing to a family is, Why should we get testing? or Isn’t it just ac-
ademic? Perhaps a decade ago, much testing yielded results that were interpreted
as variants of unknown significance, which did not have much clinical utility for a
family. However, the field of NDD genetics has evolved dramatically over the last
decade, and with scientific and clinical discoveries, the practical value of genetic
testing has greatly improved. There are several possible practical implications of
genetic testing. First, families from genetic syndromes often form patient advo-
cacy groups (PAGs). These groups have several goals: (1) provide support for each
other, especially for those navigating a new diagnosis; (2) improve and accelerate
20
clinical care and research by forming national clinics; (3) improve clinical trial
readiness through patient registries and other collaborative data gathering efforts;
and (4) advocate for translational research specific to their genetic condition.
For newly diagnosed individuals, these PAGs provide a much more focused
and accessible support network than the larger NDD community, the latter of
which can be daunting and difficult to navigate. Secondly, as suggested earlier,
the diagnosis of a genetic syndrome can improve and focus clinical monitoring,
particularly if there are known co-occurring diagnoses which require screening
or even treatment. For example, a patient is diagnosed with Dup15q syndrome,
a copy number variant in which more than 50% of children have epilepsy, any
atypical spell or developmental regression will warrant a more urgent electro-
encephalography (EEG) than in a child with nonsyndromic ASD, in which the
risk of epilepsy is lower. As another example, a variety of PTEN mutations confer
a high risk of cancer in addition to increasing risk for ASD and, therefore, in-
dividuals with these mutations undergo yearly cancer screening. The final and,
perhaps most exciting, reason for genetic testing is the promise of treatment. The
field has entered an era of precision therapeutics for genetic syndromes, with pre-
clinical models elucidating underlying mechanisms of disease that, in turn, may
be modulated with pharmacological agents, antisense oligonucleotides, or gene
editing methods. These “precision therapies” have the potential not only to slow
down disease progression but potentially to reverse clinical and developmental
disabilities. Already, there are trials underway in Fragile X syndrome, Angelman
syndrome, Rett syndrome, CDKL5, and tuberous sclerosis complex. This opti-
mism around effective treatments must be balanced with realistic expectations
when with counseling families, but the hope that these therapeutics provide can
be quite transformative for families.
EXAMPLES OF SYNDROMES
Fragile X Syndrome
Fragile X syndrome (FXS) is an X-linked disorder caused by a mutation in the

Fragile X Mental Retardation gene 1(FMR1) located on Xq27.3 (Rooms & Kooy,
2011; Verkerk et al., 1991). An unstable expansion (>200) of the of cytosine-
guanine-guanine (CGG) trinucleotide repeat results in hypermethylation of the
FMR1 gene, preventing gene transcription and subsequent absence of FMRP
(Fragile X Mental Retardation Protein), which has been shown to be involved in
synaptic function and glutamatergic activity (Bassell & Warren, 2008; Bear et al.,
2004; D’Antuono et al., 2003; Liu-Yesucevitz et al., 2011; Martin et al., 2014). FXS
is more common in males with a prevalence of 1.4 per 10,000 but can also occur
in females with a lower prevalence of 0.9 per 10,000 (Hunter et al., 2014; Turner
et al., 1996).
Fragile X syndrome is the most common inherited cause of GDD/ID. Young
children with FXS initially present with developmental delays that later manifest
201
as ID and/or learning disabilities (Kau et al., 2002). Cognitive and adaptive abil-
ities appear to decline over time compared to typically developing peers, with
greater difficulties in visual spatial skills, executive functioning, and nonverbal
abilities (Dykens et al., 1987; Kemper et al., 1988; Klaiman et al., 2014; Reiss &
Hall 2007; Skinner et al., 2005; Visootsak et al., 2005). In addition, children have
abnormal speech patterns (Borghgraef et al., 1987; Kau et al., 2002; Sudhalter &
Belser, 2001). Co-occurring neurodevelopmental and neuropsychiatric disorders,
including ADHD, ASD, obsessive-compulsive behaviors, sensory hyperarousal,
and anxiety, are common (Cordeiro et al., 2011; Munir et al., 2000; Schaefer et al.,
2015). Classic cognitive and behavioral features are typically seen in males, with
females exhibiting a more variable and milder phenotype (Bennetto et al., 2001;
Franke et al., 1999; Freund et al., 1993; Hagerman et al., 1992).
ASD is commonly diagnosed in individuals with FXS, with rates up to 50%
being reported (Clifford et al., 2007; Harris et al., 2008; Kaufmann et al., 2004).
In addition, up to 90% of individuals with FXS exhibit subthreshold autistic be-
haviors (Bailey et al., 2000; Hagerman & Hagerman, 2002; Martin et al., 2012;
Roberts et al., 2007). When examining whether ASD and FXS was different from
nonsyndromic ASD, most studies have found that children with FXS and ASD
appear to share similar features to nonsyndromic ASD (Kaufmann et al., 2004;
McDuffie et al., 2010, 2015; Rogers et al., 2001; Wolff et al., 2012). Like other
single-gene disorders, individuals with both FXS and ASD exhibit worse cognitive
and behavioral outcomes compared to either diagnosis alone (Bailey et al., 2000,
2001; Kau et al., 2002; Rogers et al., 2001).
Phelan McDermid Syndrome
Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder with

an incidence of 2.5–10 per million births and is characterized by neonatal hy-
potonia, poor feeding, motor deficits, and language impairments (Phelan &
McDermid, 2012). Individuals with PMS can also have involvement of other
organs, such as kidneys, heart, and brain (Phelan & McDermid, 2012; Soorya
et al., 2013). PMS is caused by loss of function of the SHANK3 gene on chromo-
some 22 (22q13.3) (Bonaglia et al., 2011; Dhar et al., 2010; Luciani et al., 2003;
Phelan, 2008; Phelan & McDermid, 2012; Soorya et al., 2013; Wilson et al., 2003),
which codes for a scaffolding protein in the postsynaptic membrane of excita-
tory glutamatergic synapses (Boeckers, 2006; Sheng & Kim, 2011). Mutations in
SHANK3 result in disruption of synaptic maintenance and plasticity, as well as
disruption of the mTOR pathway (Baron et al., 2006; Grabrucker et al., 2011), and
the size of the deletion often correlates with phenotypic variation and disease se-
verity (Sarasua et al., 2011; Sarasua, Boccuto et al., 2014; Sarasua, Dwivedi et al.,
2014; Soorya et al., 2013). SHANK3 mutation is de novo in approximately 80%
of cases with the other 20% of cases resulting from unbalanced translocations or
another chromosome rearrangement (Bonaglia et al., 2011; Phelan, 2008; Sarasua,
Boccuto et al., 2014).
20
ASD is diagnosed in up to 75% of individuals with a SHANK3 mutation (Soorya,

Kolevzon et al., 2013). As with many syndromic NDDs, moderate to profound ID is
common, sometimes making the diagnosis of ASD difficult (Moessner et al., 2007;
Narahara et al., 1992; Oberman et al., 2015; Phelan & McDermid, 2012). Many
children with PMS exhibit hyperactivity, impulsivity, and poor attention span and
meet criteria for ADHD (Richards et al., 2017; Shaw et al., 2011). Phenotypically,
individuals with PMS exhibit similar social communication deficits when com-
pared to those with idiopathic, or nonsyndromic, ASD. However, they tend to
have fewer ritualistic and repetitive behaviors (Richards et al., 2017). Young chil-
dren can exhibit anxiety, repetitive motor behaviors, and a mixture of sensory
avoidant and seeking behaviors, particularly with their mouths (e.g., chewing and
mouthing nonfood items, teeth grinding, tongue thrusting; Phelan & McDermid,
2012). In addition, individuals with PMS may be at higher risk for developing
atypical bipolar disorder (Denayer et al., 2012; Verhoeven et al., 2012).
Tuberous Sclerosis Complex
Tuberous sclerosis complex (TSC) is a rare genetic disorder that affects approx-
imately 1:6,000–10,000 individuals and affects multiple major organ systems,
including the brain, kidneys, skin, heart, and lungs (Osborne et al., 1991). In ad-
dition, neuropsychiatric manifestations, coined TSC associated neuropsychiatric
disorders (TAND), which include ID, ASD, learning disabilities, and psychiatric/
mood disorders, are highly prevalent (Curatolo & Bombardieri, 2008; Curatolo
et al., 2015; de Vries et al., 2015). ASD affects approximately 40%–50% of indi-
viduals with TSC (Crino et al., 2006; Curatolo & Bombardieri, 2008; Jeste et al.,
2008). Risk correlates for ASD include developmental delay/intellectual disability,
early age at seizure onset, history of infantile spasms, presence of a TSC2 muta-
tion, and tuber structure and location (Bolton, 2004; Bolton et al., 2015; Crino
et al., 2006; Curatolo & Bombardieri, 2008; Jeste et al., 2008; Numis et al., 2011;
van Eeghen et al., 2012).
Because TSC often is diagnosed in utero, these infants have been studied pro-
spectively for early features or predictors of NDDs. These studies have shown that
atypical social behaviors as early as 6 months, along with delays in fine motor
and visual reception by 6 months and global delays by 9 months, are associated
with later ASD diagnosis (Jeste et al., 2014). In addition, young children with TSC
who eventually get diagnosed with ASD exhibit declines in nonverbal skills (Jeste
et al., 2014), as well as overall cognitive delays and a lag in acquisition of skills,
thus falling farther behind their typically developing peers (Capal et al., 2017;
Humphrey et al., 2004). These early natural history studies have informed the de-
sign of the first randomized clinical trial of early behavioral intervention for TSC
(JETS: NCT03422367).
When considering single-gene disorders, such as TSC, to study underlying
mechanisms and early treatments for ASD, it is important to understand whether
ASD in the context of TSC may differ from ASD resulting from other causes. In
203
a prospective study, young children with TSC with and without ASD were com-
pared to children with nonsyndromic ASD and to typically developing peers
(Jeste et al., 2016). Children with ASD with or without TSC exhibited more delays
compared to children without ASD. No significant difference in cognition be-
tween syndromic and nonsyndromic ASD groups was seen. Behaviorally, children
with ASD and TSC and nonsyndromic ASD exhibited similar social communi-
cation profiles on the Autism Diagnostic Observation Schedule (ADOS). Possible
reasons for symptom convergence could be that variability in cellular pathways
lead to similar overall behavioral phenotypes. However, subtle yet meaningful dif-
ferences may not be detectable by current behavioral measures and need to be
paired with objective biomarkers.
In 2012 the TSC Autism Center of Excellence Research Network (TACERN)
was developed to better understand the development of ASD in TSC and to
evaluate early biomarkers of ASD in infants with TSC. Children with TSC were
followed longitudinally from birth to 36 months. Prevalence of ASD was approxi-
mately 25% at 36 months. However, these children also exhibited other behavioral
and developmental differences resulting in a proportion of subthreshold ASD
symptoms. This is likely reflective of the genetic disorder, which is highly asso-
ciated with several different neuropsychiatric difficulties associated with TAND
(de Vries et al., 2015). This population also demonstrates that ASD is often not
a straightforward set of phenotypic features and can be influenced by other co-
occurring conditions; in this case, seizures, developmental delay/intellectual dis-
ability, neuropsychological deficits, and others.
15q Duplication Syndrome
The 15q region contains many genes critical for synaptic integrity and function,
including maternally imprinted UBE3A and several GABAa receptor subunit
genes. Deletions of maternal UBE3A cause Angelman syndrome, a well-defined
NDD syndrome associated with significant expressive language impairment, hy-
potonia, intellectual disability, autistic features, epilepsy, and sleep disturbances.
Duplications of the 15q region can occur either as an isodicentric duplication,
resulting usually in a supernumerary chromosome 15 with two extra copies of
the 15q 11.2–13.1 region, or an interstitial duplication resulting in one extra copy
of this region. The clinical features of the syndrome include hypotonia and asso-
ciated motor delays, GDD, ID, and ASD. ASD occurs in at least 50% of children
with dup15q syndrome, with diagnosis sometimes confounded by the severity
of the motor and cognitive impairment. Epilepsy is common in children with
isodicentric duplications, with early-onset infantile spasms evolving into more
complex epilepsy over time, often intractable (Conant et al., 2014; Finucane et al.,
1993). Seizure severity is associated with more profound neurodevelopmental
disabilities, a theme that persists in most syndromic NDDs. A recent large cohort
study of dup15q syndrome found that individuals with interstitial duplications
had higher cognitive function and adaptive skills than isodicentric duplications,
204
but that these differences were driven by epilepsy. When comparing only those
without seizures, the phenotype in the two duplication types was comparable
(DiStefano et al., 2016, 2020).
Dup15q syndrome also has a signature EEG biomarker characterized by in-
creased activity in the beta range (15–30 Hz), a feature that often occurs in pa-
tients taking positive allosteric modulators of GABA (such as benzodiazepines)
(Frohlich et al., 2016). This biomarker persists in the awake and sleep states and
can be easily quantified on both clinical and research EEG assessments. A recent
study examining properties of this biomarker demonstrated that these beta oscil-
lations are stable over time and occur in both duplication types (Saravanapandian
et al., 2020). This EEG pattern is now being considered as a marker of drug target
engagement for therapeutics that modulate GABA neurotransmission. These
types of biomarkers are being studied across genetic syndromes as tools to im-
prove clinical trials, as they may better inform patient selection, confirm that a
drug is truly engaging a putative brain target, and serve as proximal outcome
measures for treatments.
FUTURE DIRECTIONS
There are both challenges and opportunities in the identification of genetic syn-
dromes associated with NDDs. First, as introduced earlier, the design and im-
plementation of clinical trials testing mechanistic, precision therapeutics has
accelerated over the last decade, perhaps in part inspired by the success of the
ASO therapy for spinal muscular atrophy, a previously devastating neuromus-
cular disorder. However, as these drugs are being developed, clinical research
must keep up with efforts in clinical trial readiness, including identification of
putative clinical endpoints, discovery of objective biomarkers that can improve
measurement of drug target engagement, and innovation in methods to improve
remote delivery of trials, given the geographical distribution of these rare dis-
orders. The challenge around clinical endpoints is not trivial, as these individuals
with syndromic NDDs often have severe ID, language, and motor impairments
that undermine the validity of standardized behavioral and cognitive testing.
These traditional measures are normed to a typically developing population, and,
therefore, children with syndromic NDDs often score at the floor, which makes
stratification or examination of subtle change over time difficult. Efforts now are
underway to develop new quantitative and more developmentally sensitive meas-
ures of cognition, language, and social and motor skills that are more relevant to
these populations. PAG-sponsored natural history studies and patient registries
can accelerate these efforts in clinical endpoint measurement. In addition, the po-
tential utility of biomarkers is being investigated for a variety of contexts of use.
Biomarker methods have included EEG, magnetic resonance imaging (MRI), eye
tracking, positron emission tomography (PET), and even quantitative measures
of behavior, and are just now being integrated into trials, with the goal of de-
veloping objective, quantitative metrics of disease severity to gauge baseline and
205
treatment outcomes. COVID-19 restrictions accelerated innovations in remote

delivery, and now assessments can be performed over video conferencing, coding
of home videos, and even through monitoring apps on mobile devices. However,
delivery of intervention or drugs remotely becomes more of a challenge.
Another advance in diagnostic genetics is the availability of prenatal genetic
testing, which has opened the door for very early detection, monitoring, and
even early intervention. Prenatal screening, not only for major chromosomal ab-
normalities but also smaller copy number variants, methylation defects (such as
Angelman syndrome), and single-gene disorders, has become available in certain
clinical settings and allows for the possibility of early therapeutics. One example
of this opportunity is in tuberous sclerosis complex, which is diagnosed often in
utero via the presence of cardiac rhabdomyomas on fetal ultrasound. Subsequent
genetic testing can be performed, which often helps guide therapy. Based on
studies in early infancy that have detected early predictors of epilepsy and of
autism, there are two ongoing clinic trials of early prevention. The first, called
PREVENT, is focused on using Vigabatrin to prevent epilepsy and ultimately
NDDs (U01-NS092595), and the second is an early behavioral intervention trial
to improve developmental outcomes and prevent autism (NCT03422367).
Finally, it must be emphasized again that genetic testing explains etiology but
does not preclude or alter the NDD diagnosis. Patients with these genetic syn-
dromes often struggle to access necessary educational resources and interventions,
as their genetic diagnosis overshadows the core neurodevelopmental features that
can be amenable to change with behavioral intervention. More advocacy from pa-
tients and health care providers is needed to educate service providers, insurance
companies and other relevant parties to the fact that these individuals require
support in the school and home as intensively as those with nonsyndromic or
idiopathic NDDs.
CLINICAL VIGNETTE
This vignette illustrates the importance of pursuing stepwise genetic testing in

determining the etiology of an NDD through an example of a young child with
unexplained developmental delay. A now 16-year-old male had been followed by
a developmental behavioral pediatrician for history of delayed milestones. He was
the product of a normal pregnancy. Early developmental history was significant
for hypotonia and delayed walking. He made sounds but never progressed to bab-
bling or formed speech and continues to be nonverbal. He was diagnosed with
ASD around age 3 years due to impairments in social communication as well as
unusual motor mannerisms. However, the developmental pediatrician always felt
that he was an atypical presentation for ASD, mostly because of hypotonia and
motor impairment. Genetic testing at the time included microarray and Fragile
X testing, both of which were normal. He was referred to a neurodevelopmental
specialist around the age of 12 years due to significant difficulties with sleep, along
with abnormal posturing of his left arm and severe toe walking. An overnight
206
EEG was performed to evaluate for seizures during sleep and was significant for
focal epileptiform discharges but no seizures. He had not and still does not have
clinical seizures. Brain MRI without contrast was performed and was normal.
Due to ongoing concern about an underlying genetic etiology, a genetic panel
for ASD and ID was performed, which found a de novo point mutation involving
the SHANK3 gene. He was subsequently diagnosed with Phelan-McDermid syn-
drome. This allowed for appropriate counseling about the disorder and connec-
tion to the Phelan-McDermid Syndrome Foundation.
CONCLUSIONS
Although individually rare, NDDs are collectively common and represent a sig-
nificant burden to individuals and their caregivers. Advances in genetic testing
have allowed for a greater understanding of the biological mechanisms under-
lying NDDs, thus paving the way for targeted, disease-modifying treatments. In
addition, an understanding of the etiology of a particular NDD provides critical
information for families, enabling access to other families and specialists, research
opportunities, and potential treatments.
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11
Clinical Decision-Making
in Evidence-Based Assessment
Disentangling Co-Occurring and Differential
Diagnoses in Individuals With Autism Spectrum Disorder
R E B E C C A E L I A S A N D C AT H E R I N E L O R D ■
Clinicians engaged in psychological assessment face the unique responsibility

of examining measures that highlight individual client factors and synthesizing
these data into relevant and meaningful constructs. Identifying psychopathology
across the lifespan is of paramount importance because accurate diagnostic con-
ceptualization has implications for treatment and overall outcomes. This is espe-
cially true of individuals suspected of having autism spectrum disorder (ASD).
This concluding chapter of this handbook will focus on disentangling the psychi-
atric profiles and diagnostic categorization of individuals with ASD. A framework
for clinical decision-making will be presented, with guidelines for determining if
co-occurring disorders are present, or if psychopathology is better characterized
only by a diagnosis of ASD. We primarily focus on optimizing evidence-based
assessment practices within the diagnostic frameworks of the fifth edition of the
Diagnostic and Statistical Manual of Mental Disorders (DSM-5) and the tenth edi-
tion of International Classification of Diseases (ICD-10) to help clinicians differen-
tiating among complex diagnostic presentations.
NOSOLOGY
Identifying and classifying problematic symptomology in youth and adults, for

many professionals, relies on a taxonomic system. In both the DSM and ICD sys-
tems, psychopathology is conceptualized as a collection of specifically defined
disorders which have delineated boundaries between both normal variation
217
Clinical Decision-Making in Evidence-Based Assessment217
and other distinct diagnoses (First, 2005). In the case of ASD, diagnostic con-
ventions have defined core symptomology as a constellation of deficits in social-
communicative behaviors in conjunction with restricted and repetitive interests
that fall above a certain clinical threshold (American Psychiatric Association,
2013). There is much debate with respect to the advantages and disadvantages of
our current diagnostic systems. A categorical approach to classification has in-
herent pitfalls (Kotov et al., 2017). Despite the promise of dimensional approaches
to classification (Casey et al., 2013; Cuthbert, 2014; Kotov et al., 2017) and ad-
vances in basic science, the DSM and ICD systems are currently regarded as the
acting standard in the medical and psychological clinical communities. Thus, the
onus is largely on the clinical professional to determine if symptoms contributing
to interference with daily life best comprise a singular diagnosis or multiple diag-
noses acting together.
DIFFERENTIATING CORE AUTISM SPECTRUM DISORDER

SYMPTOMOLOGY FROM OTHER PSYCHOPATHOLOGY
At the present time, the diagnosis of ASD relies exclusively on observable be-
havioral markers, making differential diagnosis a complex process (Matson et al.,
2007). In the American Psychiatric Association’s revision from DSM-IV-TR to
the DSM-5, the diagnostic features of ASD are now broadly described as general
principles, leaving it up to the clinician to supply specific examples to rule in or
rule out the diagnosis. This was a shift from the DSM-IV-TR that had a mix of
principles (e.g., social reciprocity) and some much more specific examples (e.g.,
lack of shared enjoyment; peer interactions). The use of standardized assessment
tools across multiple informants and settings aids clinicians in making diagnostic
determinations (Kanne & Bishop, 2020; Kim & Lord, 2012; Youngstrom et al.,
2003). Accuracy of diagnostic categorization increases through evidence-based
assessment (Mash & Hunsley, 2005), as no single observation or instrument is
considered adequate to make a diagnosis (Huerta & Lord, 2012). Rather, the col-
lection of evidence-based tools and clinical judgment of a professional aid in
achieving greater diagnostic accuracy in those suspected of having ASD (Corsello
et al., 2007). The Autism Diagnostic Observation Schedule-2 (ADOS-2; Lord et al.,
2012) and Autism Diagnostic Interview-Revised (ADI-R; Rutter, Le Couteur, &
Lord, 2003) comprise two of the most validated assessments for determining the
presence of autism symptomatology, above a set diagnostic threshold. When used
in conjunction with one another, the accuracy of clinical decision-making rises
upward of 80% (Falkmer et al., 2013; Risi et al., 2006). Despite guidance from
psychometrically sound tools, standardized assessment measures in the field of
ASD still do not have perfect reliability and validity. As detailed in the forth-
coming sections, a variety of factors present at the initial referral stage contribute
to levels of diagnostic certainty and diagnostic accuracy by trained professionals,
including gender, severity of autistic symptomology, developmental level, cogni-
tive functioning, age, socioeconomic status, race, and the context of symptom
218
presentation (Hedley et al., 2016; Mandell, 2005; Mandell et al., 2007; McDonnell
et al., 2019; Penner et al., 2017). Although heterogeneous in individual presen-
tation, the core features of ASD are relatively consistent across cultures and lan-
guages. There are, however, differences not only across cultures but across clinics
and practitioners, observed in how co-occurring diagnoses or differential diag-
noses are made (Havdahl & Bishop, 2019; Lai et al., 2019). Simply said, deter-
mining if someone is on the autism spectrum is not an easy task. This is especially
highlighted by the fact that the behavioral manifestation of autism symptomology
changes over time and overlaps with a variety of other disorders.
Measurement
Under optimal circumstances, a comprehensive diagnostic assessment should

be completed by a multidisciplinary team to determine the presence or absence
of ASD and associated disorders. An evidence-based assessment approach to
diagnosis is a multistep iterative process which ultimately informs applicable
treatment targets (Kerns et al., 2016; Youngstrom et al., 2015). Beginning at the
point of referral, it becomes the job of a clinician to test multiple hypotheses to
achieve an accurate clinical formulation of the client. This is typically attained
by choosing appropriate testing tools to attend to the individual needs, desires,
and presentation of the client. Referral for diagnostic assessment indicates that
someone perceived differences in the behavior or development of the referred
individual. A skilled clinician packages these concerns into a cogent account by
providing a diagnostic explanation for these behaviors and recommendations
for targeting symptoms based on scientific evidence and individual and family
preferences.
However, the multistep process clinicians follow as part of a diagnostic autism
evaluation is not a “one-size-fits-all” algorithm. Behaviors, thoughts, and emotions
can arise through multiple etiologies, and this makes a single standard assessment
prescription among clinicians nearly impossible to attain. Rather, best practice
guidelines inform clinicians how to flexibly attend to a broad set of needs. In child
psychopathology, assessment typically necessitates the query of multiple inform-
ants and the integration of validated assessment tools spanning several modalities
of assessment (Huerta & Lord, 2012). Diagnostic assessments for those suspected
of having ASD often take the form of a detailed developmental history, caregiver
interview, direct observation, screening for a broad range of psychopathology,
assessment of cognitive and adaptive functioning, and identification of risk and
protective factors. To aid in diagnostic accuracy, the assessment tools specific to
ASD should have strong reliability, validity, sensitivity, and specificity. Further, the
instrument should be developmentally appropriate and within the scope of the
individual’s ability. When using an evidence-based assessment battery, clinicians
often rely on the idea that standardized and psychometrically strong measures of
ASD features capture core ASD symptomology.
219
Externalizing Symptomology
The psychometrics of gold-standard assessment tools can be influenced by a

number of factors. For example, the presence of externalizing behaviors accounts
for lower specificity on most ASD screening measures, including the Social
Responsiveness Scale (SRS; Constantino & Gruber, 2012), ADOS-2, and ADI-R
(Charman et al., 2007; Donno et al., 2010; Frazier et al., 2014; Havdahl et al., 2016;
Havdahl, Bishop, et al., 2017). A high number of behavioral problems reported by
parent informants and increased behavior problems observed by the assessing cli-
nician (Havdahl et al., 2016) may artificially inflate scores on standardized meas-
ures of ASD symptomology, particularly parent report measures. For example,
children with attention-deficit/hyperactivity disorder (ADHD) are more often
socially rejected and less well-liked than same-aged typical peers (Hoza et al.,
2005; Mikami et al., 2019). Inversely, emotional and behavioral problems may
overshadow the core features of ASD, resulting in misdiagnosis (Mazefsky et al.,
2012). In a large electronic database review of Medicaid-eligible children with
ASD diagnoses, approximately 43% of children received a diagnosis of ASD on
their first medical visit (Mandell et al., 2007). For those who did not receive an
ASD diagnosis initially, ADHD was the most common original diagnostic catego-
rization (Mandell et al., 2007).
These findings are critical when disentangling ASD from other psychiatric dis-
orders. First, screening measures often used to discriminate ASD in children and
adolescents capture observable or perceived behaviors, and these social commu-
nication difficulties and repetitive behaviors can map on to a variety of psychiatric
constructs. Secondly, these results indicate that clinicians ought to consider and
screen for a variety of psychopathologies, independent of the identified reason for
referral. Further, the context, chronicity, and level of impairment stemming from
externalizing problems should be assessed. If emotional and behavioral problems
are not evaluated as part of the assessment, individuals may be inappropriately
diagnosed. A holistic assessment tailored to the child’s individual presentation
aids in well-founded interpretation of standardized scores.
Cognitive Functioning and Age
There is a strong relationship between individual intellectual functioning and

autistic symptom severity on most parent-report measures of ASD (Charman
et al., 2007; Havdahl et al., 2016; Havdahl, Hus Bal, et al., 2017; Lord & Jones,
2012). Observational measures such as the ADOS are less influenced by cog-
nitive skills in part because the assessment is modular, in which the clinician
chooses an appropriate tool by developmental level and noted verbal abilities.
Individuals with intellectual disability have a reduced ability to compensate for
social-communication impairments and demonstrate increased repetitive beha-
vior relative to typically developing peers. This largely accounts for earlier age
20
of ASD diagnosis for those with co-occurring intellectual disability, as seen in

the United States (Shattuck et al., 2009). Cognitive functioning among individ-
uals with ASD varies greatly, in both verbal and nonverbal domains. If an ASD
diagnosis is appropriate for an individual with intellectual disability, the social
impairments must exceed those which are developmentally expected. Identifying
cognition (specifically verbal IQ and language level) and adaptive functioning in
individuals with ASD as part of a diagnostic evaluation is essential (Lord et al.,
2012). Determining level of cognitive functioning allows a clinician to critically
assess if the level of social impairment is best explained by intellectual disability
as a primary diagnosis or as a diagnosis which co-occurs with ASD. Thus, de-
fining developmental expectations is an important part of the diagnostic process,
allowing the professional team to describe the scope of strengths and difficulties,
beyond just diagnostic classification (Huerta & Lord, 2012).
Parental Perceptions and Demographic Characteristics
Age of initial ASD diagnosis is related to a variety of demographic factors, in-

cluding familial socioeconomic status, sex, race, and level of parental concern.
This is relevant to a differential diagnostic evaluation as these variables may con-
tribute to misdiagnosis. For example, African American children in the Medicaid
system ultimately diagnosed with ASD were less likely than White youth to receive
an initial diagnosis of ASD (Mandell et al., 2007). High socioeconomic status is
also associated with earlier age of diagnosis than poorer or rural youth (Daniels
& Mandell, 2014; Goin-Kochel et al., 2006; Mandell, 2005). Instruments are less
sensitive and specific for parents who do not have initial concerns about ASD
for their child. That is, when examined independently of cognitive functioning,
language level, or clinician observation, ADI-R scores are influenced by parental
concern of ASD (Havdahl, Bishop, et al., 2017). Parents who are worried about
ASD are more likely to provide clear examples and descriptions of behaviors that
may be neurodiverse. Taken together, these facets demonstrate the complexity of
using evidence-based tools as part of an evaluation. Even a trained clinician using
standardized measures may miss parent-reported descriptors of current and past
autistic behavior. What is critical is the synthesis of a variety of measures, used in
conjunction with one another, in light of contextual factors. Only then can a clini-
cian arrive at an accurate diagnostic conceptualization (see Box 11.1).
We propose an iterative, multistep assessment process that is comprised of a se-
ries of hypothesis tests made in part by the clinician, and informed by the needs,
concerns, and context of the client and their family (Lord et al., 2022). The first
step of the assessment consists of a brief needs assessment, in which the clini-
cian broadly seeks to understand the top areas of concern endorsed by the client
(when applicable) and the client’s family. This step allows the clinician to begin to
prioritize and assess primary issues of concern. In many cases, the next step takes
the form of a comprehensive diagnostic assessment, in which the client’s history
is obtained, there is a formal assessment of verbal and nonverbal development,
21
Box 11.1
Clinician Self-Assessment
Evidence-Based Assessment
1. Is the assessment individualized to the needs and concerns of the client?

2. Do I use a hypothesis-testing approach to inform my assessment?
3. Are my chosen assessment tools developmentally appropriate?
4. Are my chosen assessment tools reliable and valid for my client?
5. Am I including multiple methods of assessment? Am I gathering data from
multiple informants?
6. Do I need more information? If so, how should I get it? (e.g., conduct a
home or school visit, consult a previous therapist, ask for home videos, talk
with the child’s teacher)
7. Have I offered a diagnostic formulation which integrates all of the available
information?
8. Are my treatment recommendations individually tailored to be feasible,
acceptable, and appropriate to the client and their family?
Differential/Co-Occurring Decision-Making
9. Have I considered the scope of behaviors, cognitions, and affect which are
considered age and developmentally typical?
10. Have I assessed chronicity of symptoms and level of impairment?
11. Have I interpreted my assessment results in a way which attends to the
contextual and cultural experiences of the client?
12. Is a diagnosis of autism spectrum disorder sufficient to capture the
behavioral and emotional profile of my client?
13. How do additional psychiatric diagnoses contribute to my case
conceptualization?

assessment of the core features of ASD, estimation of adaptive skills, and broad
screening for medical, emotional, and behavioral problems. If elevations in
symptom profiles are initially observed as part of the baseline data, further as-
sessment in these domains is recommended. It is then the task of the clinician to
develop a diagnostic formulation which addresses the client’s areas of need. This
is done by integrating all available assessment data acquired as part of the eval-
uation. Lastly, the clinician should convey the assessment results and diagnostic
conceptualization to the client’s family. Diagnostic feedback should be individu-
alized to the client and sensitively delivered. The clinician, client, and client’s
family should collaboratively discuss goals for the future, and how these goals
may be achieved. Individuals with ASD and/or co-occurring conditions should be
2
Needs Assessment
• Briefly ask the client and their family about the client's specific
needs, concerns, strengths, and reasons for referral
Diagnostic Assessment
• Obtain a detailed history
• Estimate verbal and non-verbal development Gather Additional
• Assess ASD symptoms (current and past) Information as
• Observational assessment Necessary
• Caregiver/Other Informant/Self Report
• Estimate adaptive functioning • With permission,
call the child’s
• Screen for medical problems
teacher and/or
• Screen for emotional and behavioral problems previous therapist
• If elevated, assess each possible co-occurring
• Get standardized
disorder in greater detail
school-report
measures
• Conduct a home
or school visit
Diagnostic Formulation
• Ask for home
• Integrate all available information videos
• Determine if another psychiatric disorder best • Conduct a
explains the presenting problems or if a co- functional
occurring disorder might be present behavior
assessment (FBA)
Relevance to Treatment
• The diagnostic formulation may change over
time or as a function of treatment
• Continue to monitor and re -assess as necessary
Figure 11.1. Steps in evidence-based autism spectrum disorder (ASD) assessment.

Source: Adapted from Lord et al., 2020, Lancet (2022).
monitored and reassessed as necessary, as the symptom profile and needs of the
individual may change over time. This stepped-care approach, with iteration and
inclusion of patient and caregiver concerns at several different stages, allows for
a high level of individualization during the assessment process (see Figure 11.1).
Psychiatric Profile of Individuals With Autism

Spectrum Disorder
Once a diagnosis of ASD has been established, determining the scope of co-
occurring psychiatric diagnoses is critical for diagnostic conceptualization
and designating appropriate treatment targets. In child and adolescent psycho-
pathology, determining the presence of co-occurring disorders is a common
clinical task (Jensen, 2003; Youngstrom et al., 2003). A clinical presentation of
23
ASD consisting of more than one psychiatric disorder is frequent and contrib-
utes to the heterogeneity of the disorder. Emotional and behavioral difficulties
in those with ASD far exceed those seen in the population at large (Lord et al.,
submitted). We use the term “co-occurring psychopathology” (rather than co-
morbidity) to highlight that the biological and behavioral associations between
ASD and other related conditions are intricate (First, 2005; Rosen et al., 2018).
Estimates of co-occurring psychopathology in those with ASD hover around
70% (Leyfer et al., 2006; Simonoff et al., 2013, 2020), although it is not known if
co-occurring symptomology accounts for interrelated constructs or etiologically
distinct entities (Gotham et al., 2015; Hollocks et al., 2019; Kerns et al., 2015;
Mazefsky et al., 2012; Ollendick & White, 2012; Rodriguez-Seijas et al., 2019;
White, Lerner, et al., 2015). For example, social avoidance may be attributable to
differing psychopathological constructs, including ASD, anxiety, depression, inat-
tention, or psychosis. Further, social avoidance may be considered as a pervasive
social deficit or a construct that arises in certain contextual situations. Even more
complicated is how these symptoms and conditions are distinguishable from one
another, overlap with each other, mask one another, or are unable to be assessed
given the current psychometric tools. The presence of co-occurring psychiatric
disorders in those with ASD is particularly relevant because additional psychopa-
thology may worsen ASD core features (Leyfer et al., 2006), worsen overall out-
comes in adulthood (Kraper et al., 2017), and necessitate additional supports and
services.
Despite high prevalence of co-occurring disorders, assessment tools used to
determine levels of co-occurring psychopathology are often not standardized for
use in ASD populations. Rather, clinicians and researchers are often tasked with
adapting structured diagnostic measures to meet the needs of youth with ASD
(c.f., Leyfer et al., 2006; Simonoff et al., 2008). Although not standardized for
youth with ASD, it appears that structured and semistructured diagnostic inter-
views remain reliable when given to families and individuals who are more cogni-
tively able. Clinicians must, in turn, determine if clinical levels of the psychiatric
disorder are best explained by the existing diagnosis of ASD or if a co-occurring
disorder is appropriate (Trammell et al., 2013). Further, best practice assessment
necessitates the use of multiple informant reports such as clinician observation,
parent, teacher, and self-report when applicable. Though informant discrepan-
cies are common, they represent an important source of information and may
reflect contextual differences in symptom presentation, differing perceptions of
a behavior, or certain instances when capacity exceeds demands. However, they
leave the clinician to interpret varied pieces of relevant information when making
diagnostic determinations (De Los Reyes, 2013; De Los Reyes et al., 2015; Lerner
et al., 2012).
The categorical systems used to delineate what is best explained by a singular
diagnosis of ASD versus ASD and co-occurring psychopathology have changed
throughout the years, most recently demonstrated by the elimination of the DSM
exclusion of ASD and co-occurring ADHD. The DSM-5 also proposed the use
of a single ASD diagnosis, in lieu of the multiple subtypes formerly known as
24
autistic disorder, Asperger’s disorder, and pervasive developmental disorder–not

otherwise specified. By specifying individual cognitive and language levels, in
conjunction with associated medical or psychiatric conditions, the DSM is now
better able to capture individual strengths and needs. The label of ASD describes
a constellation of social and behavioral characteristics which are constantly
evolving based on the scientific evidence and stakeholder input. So clinicians
must be flexible in understanding how best to describe the behaviors of their cli-
ents. Determining the frequency, intensity, and duration of behaviors may help
clinicians develop an appropriate treatment plan based on an appropriate diag-
nostic conceptualization.
SUMMARY AND FUTURE DIRECTIONS
Determining if an individual meets diagnostic criterion for ASD, for ASD and an-
other co-occurring disorder, or for psychopathology best captured by something
other than ASD is a difficult task. Clinicians must disentangle symptom profiles
in order to create a comprehensive diagnostic conceptualization. This process re-
quires extensive training and experience in the assessing practitioners, as well as
sufficient time for the diagnostic assessment. We believe that this investment of
resources is worthwhile for individuals with ASD and their families. Most notably,
identified co-occurring psychopathology in individuals with a diagnosis of ASD is
often more treatable than the core features of ASD themselves. For example, CBT
among more cognitively able youth and adolescents with ASD has been shown to
reduce anxiety symptoms, often to subclinical levels (White, Schry, et al., 2015).
A comprehensive diagnostic evaluation can inform proximal and distal treatment
targets for a youth or adult with ASD and co-occurring symptomology. Further,
an accurate diagnostic conceptualization has meaning to a family seeking explan-
ations of behavior. For example, the more professionals a family sees in the pro-
cess to a diagnosis, the more dissatisfaction reported by caregivers (Goin-Kochel
et al., 2006). A comprehensive evaluation at the outset, encompassing various di-
mensions of behaviors, emotions, and thoughts has high utility.
The amount of training required to administer robustly validated measures of
core ASD symptomatology and associated co-occurring psychopathology should
not be regarded as trivial, however. The ADOS-2 and ADI-R, which contribute to
diagnostic expertise, require specific training. Furthermore, clinician experience
is of additional value. In addition, there are often long waitlists associated with
specialty medical care (Gordon-Lipkin et al., 2016; Kanne & Bishop, 2020). Most
standardized assessment tools also are not open access, which may cause financial
barriers. A comprehensive evaluation assessing for features of ASD, other psy-
chopathology, cognitive functioning, and risk and protective factors, as recom-
mended above, takes a considerable amount of time, which is challenging in both
the clinical and research arenas. Further, the first-line professionals often tasked
with providing most services to children with ASD are not specialists in ASD. As
a field, we have to acknowledge this as a conundrum, decide when to advocate for
25
true parity in mental health (so that adequate time is allotted and psychological
and psychiatric services are reimbursed adequately), and also commit to crea-
tively address these shortcomings in future research.
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230
231
ABOUT THE AUTHORS
Katherine K. M. Stavropoulos, PhD, is an Associate Professor in the School

of Education at the University of California, Riverside. She is a licensed clin-
ical psychologist and Assistant Director of the SEARCH Autism Center, which
provides free screening and diagnostic services to families in Riverside County
and surrounding regions. Dr. Stavropoulos’ research program uses neuroscience
to measure reward-related brain activity in children and adolescents with and
without autism spectrum disorder (ASD).
James C. McPartland, PhD, is Professor of Child Psychiatry and Psychology

at the Yale Child Study Center. He is a licensed child psychologist and Director
of the Yale Developmental Disabilities Clinic. Dr. McPartland’s program of re-
search investigates the brain bases of neurodevelopmental conditions to develop
biologically-based tools to improve detection, treatment, and, ultimately, the
quality of life for people with autism and their families.
23
23
INDEX
For the benefit of digital users, indexed terms that span two pages (e.g., 52–53) may, on
occasion, appear on only one of those pages.
Tables, figures, and boxes are indicated by t, f, and b following the page number
ABC (Antecedent-Behavior-Consequence) diagnostic issues in adolescents and

forms, 98 adults, 8–10
Achenbach System of Empirically Based diagnostic issues in infants and young
Assessment (ASEBA), 96–97 children, 4–8
ACI (Autism Comorbidity Interview), 97–98 aggressive behavior, 33, 87–88, 89t
ACIPL (Autism Comorbidity Interview— Angelman syndrome, 203–4
Present and Lifetime Version), 166 anger, 89t
adaptive behaviors anhedonia, 142
in co-occurring ASD/ID, 30 Antecedent-Behavior-Consequence (ABC)
in ID, 23, 24 forms, 98
in toddlers, 7–8 antidepressants, 118–19
ADHD. See attention-deficit/hyperactivity anxiety disorders
disorder assessment in, 117–18
ADI-R (Autism Diagnostic Interview- camouflaging in autism, 114–15
Revised), 6–7, 9–10, 11–12, 97, case study, 106–8
217–18, 224–25 developmental considerations, 115–17
ADIS/ASA (Autism Spectrum Addendum diagnostic traits, 121f
to the ADIS-P), 118, 166 emotion regulation in ASD versus, 110–11
ADIS-C/P (Anxiety Disorders Interview in formal diagnostic systems, 108–10
Schedule—Child/Parent Version), 118 intolerance of uncertainty in ASD
adolescents, diagnostic issues in, 8–10 versus, 111–12
ADOS (Autism Diagnostic Observation psychophysiological arousal in ASD
Schedule), 6–7, 9–10, 11–12, 30, 97, 108 versus, 114
ADOS-2 (Autism Diagnostic Observation risk for anxiety in autism, 107f
Schedule-2), 217–18, 224–25 sensory sensitivity in ASD
adults, diagnostic issues in, 8–10 versus, 112–14
affective empathy deficits, 93–95 symptom overlap in ASD, 105–6, 121f
age considerations transdiagnostic risk factors for anxiety
in anxiety disorders versus ASD, 115–16 in ASD, 110–14
in diagnostic assessment for ASD, 219–20 treatment implications, 118–20
234
234 Index
Anxiety Disorders Interview Autism Diagnostic Observation Schedule

Schedule—Child/Parent Version (ADOS), 6–7, 9–10, 11–12, 30,
(ADIS-C/P), 118 97, 108
Anxiety Scale for Children—Autism Autism Diagnostic Observation Schedule-
Spectrum Disorder (ASC-ASD), 118 2 (ADOS-2), 217–18, 224–25
argumentative behavior, 89t Autism Spectrum Addendum to the ADIS-
ASD-CA (Autism Spectrum Disorders— P (ADIS/ASA), 118, 166
Comorbidity for Adults), 166 Autism Spectrum Disorder—Comorbid
ASD-CC (Autism Spectrum Disorder— for Children (ASD-CC), 166
Comorbid for Children), 166 Autism Spectrum Disorders—Comorbidity
ASD-Language Impaired (LI), 59 for Adults (ASD-CA), 166
ASD-Language Normal (LN), 59
ASEBA (Achenbach System of Empirically Baker, B. L., 27, 32, 33
Based Assessment), 96–97 BAP (broader autism phenotype), 3–4
Asperger’s disorder, 3–4 Barton, M. L., 7
assessment behavioral disorders, 25–26, 33. See also
of ADHD versus ASD, 79–81, 80t conduct disorder; oppositional
of anxiety disorders versus ASD, 117–18 defiant disorder
of co-occurring ASD/ID, 29–31 Berg, K. L., 177
of intellectual disability, 23–25, 24t Blacher, J., 27, 32, 33
multistep process of, 218 Bölte, S., 7–8
of OCD, 165–66 borderline intellectual functioning (BIF),
in ODD/CD versus ASD, 95–98 24, 26–27, 28
of Tourette’s disorder, 167 Boswell, J. F., 112
attentional difficulties broader autism phenotype (BAP), 3–4
in ADHD versus ASD, 76–77
in MDD versus ASD, 145 callous-unemotional (CU) traits, 87–88,
in PTSD versus ASD, 181t 93–94
attention-deficit/hyperactivity disorder camouflaging in autism, 114–15
(ADHD), 68–69, 219 CBCL (Child Behavior Checklist),
attentional difficulties in, 76–77 30, 96–97
case studies, 69–71, 81–83 CD. See conduct disorder
clinical evaluation of, 79–81, 80t CDs. See communication disorders
co-occurring ASD, 69 challenging behavior, 181t
hyperactivity and impulsivity in, 77–78 Chawarska, K., 5
in intellectual disability, 25–26 Chiang, H.-M, 3
overlap of symptoms of ASD and, 72–78 Child Behavior Checklist (CBCL),
RRBIs and, 74–75 30, 96–97
shared features of ASD and, 78–79 childhood-onset fluency disorder
social and communication difficulties (stuttering), 44
in, 72–74 Children’s Communication Checklist-
Autism Comorbidity Interview (ACI), 97–98 2, 57–59
Autism Comorbidity Interview—Present Children’s Yale-Brown Obsessive-
and Lifetime Version (ACIPL), 166 Compulsive Scale—First and Second
Autism Diagnostic Interview-Revised Editions (CY-BOCS), 165
(ADI-R), 6–7, 9–10, 11–12, 97, 217– Children’s Yale-Brown Obsessive
18, 224–25 Compulsive Scale Modified for
235
Index235
Pervasive Developmental Disorders empathy deficits in, 93–95

(CY-BOCS PDD), 166 function of behavior in, 88–89
chromosomal microarray (CMA), 196–98 presentation of symptoms in ASD, 89t
chronic tic disorder (CTD), 160 social functioning in, 90–91
clinical decision-making, 216 conversational skills, 73
clinician self-assessment, 221b co-occurring psychopathology, 222–24
cognitive functioning and age, 219–20 copy number variants (CNVs), 195, 196–97
differentiating ASD symptomology from CTD (chronic tic disorder), 160
other psychopathology, 217–18 CU (callous-unemotional) traits, 87–
externalizing symptomology in, 219 88, 93–94
measurement in, 218 cultural issues in diagnosis, 11–13
nosology in, 216–17 CY-BOCS (Children’s Yale-Brown
parental perceptions and demographic Obsessive-Compulsive Scale—First
characteristics, 220–22 and Second Editions), 165
psychiatric profiles, 222–24 CY-BOCS for Children with Autism
steps in evidence-based assessment, 222f Spectrum Disorder (CY-BOCS
clinical decision trees ASD), 166
for MDD versus ASD, 146f CY-BOCS PDD (Children’s Yale-Brown
for OCD versus ASD, 168f Obsessive Compulsive Scale Modified
for TD versus ASD, 169f for Pervasive Developmental
clinical interviews, 165, 167 Disorders), 166
clinician self-assessment, 221b
CMA (chromosomal microarray), 196–98 DDs (developmental delays), 4–5
CNVs (copy number variants), deceitfulness, 89t
195, 196–97 defiant behavior, 89t
cognitive ability, 116–17, 219–20 demographic characteristics, 12–13,
cognitive-behavioral therapy, 118–19 220–22
cognitive perspective taking, 93–95 depression, 25, 32, 33. See also major
communication disorders (CDs). See also depressive disorder
developmental language disorder; destruction of property, 89t
social pragmatic developmental considerations, in anxiety
communication disorder disorders versus ASD, 115–17
ASD diagnostic criteria, 47b developmental delays (DDs), 4–5
case study, 60–61 developmental language disorder (DLD)
childhood-onset fluency disorder communication level and differential
(stuttering), 44 diagnosis, 51–53, 52t, 54t
differentiating ASD from, 44–48 communication skills in ASD
speech sound disorder, 44 versus, 48–49
subtypes of, 44 co-occurring SPCD, 49–50
complex motor tics, 160, 163 defined, 44
compulsions, 159, 162–63 developmental changes and
concentration difficulties, 145 comorbidity, 57–59
conceptual skills, 23 diagnostic criteria for, 45b
conduct disorder (CD), 86 diagnostic issues in, 50–51
assessment in, 95–98 differential diagnosis in young
characteristics of, 87–88 children, 53–57
communication deficits in, 91–93 differential diagnosis of, 58f
236
236 Index
developmental skills regression, 179 emotion dysregulation

Diagnostic and Statistical Manual of Mental in ADHD versus ASD, 78–79
Disorders (DSM-5), 3 in anxiety disorders versus ASD, 110–
ASD diagnostic criteria, 2–3, 5–8, 47b, 11, 119
109, 217–18 in co-occurring ASD/ID, 30–31
CD in, 87–88 in PTSD versus ASD, 180
communication disorders in, 44, empathy deficits, 93–95
45b, 46b evidence-based assessment, 216
ODD in, 87, 88 clinician self-assessment, 221b
psychopathology in, 216–17 cognitive functioning and age in, 219–20
PTSD in, 177 differentiating ASD symptomology from
SPCD in, 50 other psychopathology, 217–18
Diagnostic and Statistical Manual of Mental externalizing symptomology in, 219
Disorders (DSM-III), 1–2 measurement in, 218
Diagnostic and Statistical Manual of Mental nosology in, 216–17
Disorders (DSM-IV), 2, 3, 23 parental perceptions and demographic
diagnostic assessment, 220–22, 222f characteristics in, 220–22
diagnostic concept, development of, 1–2 psychiatric profiles in, 222–24
diagnostic formulation, 220–22, 222f steps in, 222f
diagnostic issues. See also specific excessive talking, 77–78
symptoms and conditions expressive language skills, 48, 52t,
in adolescents and adults, 8–10 54t, 91–92
Asperger’s disorder, 3–4 external distractions, managing, 77
broader autism phenotype, 3–4 externalizing symptomology, 219
co-occurring conditions, 13 Eyberg Child Behavior Inventory
cultural, 11–13 (ECBI), 96
gender, 10–11
in infants and young children, 4–8 family, impact of ASD/ID on, 26–27, 31–34
direct observation methods, 98 FBA (functional behavioral
disruptive behavior disorders. See conduct assessment), 98
disorder; oppositional defiant financial burden, 32, 34
disorder flashbacks, 179
dissociative episodes, 179 food selectivity/sensitivity, 145, 179
distractions, managing, 77 Fragile X syndrome (FXS), 196, 200–1
DLD. See developmental language disorder Freeth, M., 11–12
DSM. See Diagnostic and Statistical friendships, 32, 109, 140–42
Manual of Mental Disorders functional behavioral assessment (FBA), 98
dup15q syndrome, 200, 203–4 function of behavior, 88–89
early childhood G-banded karyotyping, 196–97

development in MDD versus GDD. See global developmental delay
ASD, 137–38 gender issues in diagnosis, 10–11
diagnostic issues, 4–8 genetic syndromes, 195–96
trauma response versus ASD in, 178–80 case study, 205–6
early intervention programs, 35–36 clinical principles of, 198–99
ECBI (Eyberg Child Behavior dup15q syndrome, 203–4
Inventory), 96 Fragile X syndrome, 200–1
echolalia, 51–53, 77–78 future directions, 204–5
237
Index237
genetic testing recommendations, 196– education and services for, 28

98, 198f in family system, 26–27
Phelan-McDermid syndrome, 201–2, in Fragile X syndrome, 200–1
205–6 genetic testing recommendations, 196–
tuberous sclerosis complex, 202–3 98, 198f
value of genetic testing, 199–200 impact of ASD diagnosis in addition
genetic testing to, 31–32
prenatal, 205 impact of diagnosis in addition to
recommendations for, 196–98, 198f ASD, 32–34
value of, 199–200 in Phelan-McDermid syndrome, 201–2
gestures, 49, 52t, 56, 93, 140 prevalence, 25
global developmental delay questions to inform differential
(GDD), 195–96 diagnosis, 31f
clinical principles of, 198–99 in tuberous sclerosis complex, 202–3
in dup15q syndrome, 203–4 value of genetic testing, 199–200
in Fragile X syndrome, 200–1 intelligence tests, 23
genetic testing recommendations, 196– International Classification of Diseases
98, 198f (ICD-10), 2, 216–17
value of genetic testing, 199–200 intolerance of uncertainty (IU), 111–12,
Goldin, R. L., 33 113, 119
Gotham, K., 109–10 irritability, 89t, 181t
Green, D., 112–13 IS (insistence on sameness), 109–10
Guthrie, W., 6
Jess, M., 27
Harrison, L. A., 113–14 joint attentional (JA) acts, 56, 178–79
Huerta, M., 7 Jones, A. P., 93–94
Hutt, S. J., 114
hyperactivity, 77–78 Kanner, L., 1
Kerns, C. M., 116–17
ICD-10 (International Classification of Kiddie Schedule for Affective Disorders
Diseases), 2, 216–17 and Schizophrenia (KSADS), 97–
impulsivity, 77–78 98, 166
Individuals with Disabilities Education
Act (IDEA), 28 Landa, R. J., 12
infants, diagnostic issues in, 4–8 language comprehension, 56
insistence on sameness (IS), 109–10 Lewinsohn, P. M., 139
intellectual disability (ID), 22, 195– LI (ASD-Language Impaired), 59
96, 219–20 Liss, M., 113–14
anxiety in, 116–17 LN (ASD-Language Normal), 59
assessment in, 23–25, 24t
behavioral and mental health problems major depressive disorder (MDD)
in, 25–26 case study, 145–50
case study, 29–31, 34–35 clinical decision tree, 146f
clinical principles of, 198–99 clinical similarities between ASD and,
co-occurring ASD, 28–29 139–45, 141t
defined, 23 co-occurring ASD, 135–36, 138–39
diagnostic issues in, 35–36 differentiating stable versus episodic
in dup15q syndrome, 203–4 symptoms over time, 136–37
238
238 Index
major depressive disorder (MDD) (cont.) obsessive-compulsive disorder (OCD), 158

nonverbal communication in, 140, 141t assessment of, 165–66
prevalence of, 135 case study, 164
rumination in, 141t, 143–44 clinical decision tree, 168f
social cognitive deficits in, 141t, 142–43 clinical presentation, 159–60
social-communicative development in co-occurring ASD, 161
early childhood, 137–38 symptom overlap and differential
social relationship difficulties, 140– diagnosis, 161–63
42, 141t O’Kearney, R., 92
Mayes, S., 179–80 oppositional defiant disorder (ODD), 86
Mayes, S. D., 138–39 assessment in, 95–98
Mazefsky, C. A., 111 case study, 99–100
M-CHAT, 11–13 characteristics of, 87–88
McMahon, K., 113–14 communication deficits in, 91–93
Medeiros, K., 97 empathy deficits in, 93–95
mental health disorders, 25–26 function of behavior in, 88–89
mindfulness-based interventions, 118–19 presentation of symptoms in ASD, 89t
minority groups, screening tools used social functioning in, 90–91
with, 12–13 optimism of parents, 27
motor movements, in ADHD versus Ouyang, L., 32
ASD, 74–75
Munir, K. M., 26 Pandolfi, V., 97
parental perceptions, 220–22
needs assessment, 220–22, 222f parent–child relationship, in intellectual
Neil, L., 113 disability, 26–27
neurodevelopmental disorders Parent Rated Anxiety Scale for youth with
(NDDs), 195–96 autism (PRAS-ASD), 118
case study, 205–6 patient advocacy groups (PAGs), 199–200
clinical principles of, 198–99 peer attachment, 180
dup15q syndrome, 203–4 perceived arousal, 114
Fragile X syndrome, 200–1 perseveration, 144
future directions, 204–5 personality disorders (PDs), 13
genetic testing recommendations, 196– pervasive developmental disorder—not
98, 198f otherwise specified (PDD-NOS), 2–3
Phelan-McDermid syndrome, 201– Petalas, M. A., 32
2, 205–6 Phelan-McDermid syndrome (PMS), 201–
tuberous sclerosis complex, 202–3 2, 205–6
value of genetic testing, 199–200 play
NICHQ Vanderbilt Assessment in DLD versus ASD, 56
Scales, 95–96 in PTSD versus ASD, 179, 180, 181t
nonverbal communication positivity of parents, 27
in anxiety disorders versus ASD, 108 posttraumatic stress disorder (PTSD), 176
in DLD versus ASD, 49, 52t case studies, 184–89
in MDD versus ASD, 140, 141t developmental approach to interpreting
in ODD/CD versus ASD, 93 trauma response, 177
nosology, 216–17 differences between ASD and trauma, 178
differences between ASD and trauma
obsessions, 159, 161–62 response in children, 178–80
239
Index239
framework for differential diagnosis, language-related, 51–53

181–84, 181t versus obsessions/compulsions in
risk of trauma exposure in children with OCD, 161–63
ASD, 177 in PTSD versus ASD, 179, 181t
practical skills, 23 in SPCD/DLD versus ASD, 56
pragmatics rigidity, 75, 78, 144, 180
in CD versus ASD, 92 Rodgers, J., 112, 113, 119
in DLD versus ASD, 48, 49, 52t rule-breaking behavior, 89t, 91
in SPCD versus ASD, 50, 51 rumination, 141t, 143–44
standardized assessment measures, Russell, G., 28–29
53, 54t
PRAS-ASD (Parent Rated Anxiety Scale Samson, A. C., 111
for youth with autism), 118 SCD (social communication disorder),
precision therapies, 200 2–3, 50
prenatal genetic testing, 205 school-aged children
property destruction, 89t SPCD/DLD versus ASD in, 51–53, 52t, 54t
prosody, 92–93 trauma response versus ASD in, 180
psychiatric disorders, 33, 78–79 scripted language, 51–53, 77–78
psychiatric profiles, 222–24 self-regulatory control, difficulties
psychopathology with, 78–79
co-occurring, 222–23 self-report measures, 117–18, 165
differentiating ASD symptomology from semantic-pragmatic disorder, 50
other, 217–18 semi structured interviews, 97–98, 165, 167
nosology, 216–17 sensory processing difficulties, 75
psychiatric profiles, 222–24 sensory sensitivity, 112–14, 145, 178–79
psychophysiological arousal, 114 SES (socioeconomic status), 12–13, 220
PTSD. See posttraumatic stress disorder SHANK3 mutation, 201–2, 205–6
sibling relationships, 27, 32
quasi-autism, 179–80 simple motor tics, 160, 163
single nucleotide variants (SNVs), 195, 197
race, 12–13, 220 sleep disturbances, 144–45, 179, 181t
rating scales, 95–97, 167 SNVs (single nucleotide variants), 195, 197
Reading the Mind in the Eyes Test social anhedonia, 142
(REMET), 142–43 social anxiety disorder, 109
reappraisal, 111 social avoidance, 222–23
Reardon, T. C., 116–17 social cognitive deficits, 141t, 142–43
receptive language skills, 48, 52t, social-communication deficits
54t, 91–92 in ADHD versus ASD, 72–74
Reese, R. M., 88–89 in anxiety disorders versus ASD, 108
regression of developmental skills, 179 in ASD, 158–59
rejection sensitivity, 144 in co-occurring ASD/ID, 30
remaining seated, difficulty with, 78 in MDD versus ASD, 136–38
restricted and repetitive behaviors, in ODD/CD versus ASD, 90–93
interests, and activities (RRBIAs) in PTSD versus ASD, 178–79, 181t
in ADHD versus ASD, 74–75 social communication disorder (SCD),
in anxiety disorders versus ASD, 109–10 2–3, 50
in ASD, 158–59 social-emotional reciprocity deficits, 90–91
in infants and young children, 5, 6–7 social motivation, 72, 109, 142
240
240 Index
social participation, 32 Tourette’s Disorder Scale—Clinician Rated

social pragmatic communication (TODS-CR), 167
disorder (SPCD) transient autism, 179–80
case study, 60–61 transitions, difficulty with, 75
communication level and differential transition to young adulthood, 34–35
diagnosis, 51–53, 52t, 54t trauma, 176
co-occurring DLD, 49–50 developmental approach to interpreting
defined, 44 response to, 177
developmental changes and differences between ASD and, 178
comorbidity, 57–59 overlapping presentations of ASD and
diagnostic criteria for, 46b response to, 181t
diagnostic issues, 50–51 response in early childhood versus
differential diagnosis of, 53–57, 58f ASD, 178–80
in DSM-5, 50, 61–62 response in school-age children versus
socioeconomic status (SES), 12–13, 220 ASD, 180
South, M., 108, 112, 113 risk of exposure in children with
speech sound disorder, 44 ASD, 177
Stadnick, N., 108 treatment of anxiety in ASD, 118–20
stereotyped behaviors, 162–63, 179 TSC Autism Center of Excellence Research
stuttering (childhood-onset fluency Network (TACERN), 203
disorder), 44 tuberous sclerosis complex (TSC), 202–3
Sukhodolsky, D. G., 116–17 turn taking, 73–74
suppression, 111
vindictiveness, 89t
TACERN (TSC Autism Center of Vineland Adaptive Behavior Scales, 7–8, 23
Excellence Research Network), 203 Vivanti, G., 34
Tager-Flusberg, H., 48 vocal tics, 160
Taheri, A., 32
talking, excessive, 77–78 Wechsler Intelligence Scale for Children
TD. See Tourette’s disorder (WISC-V), 23
Tek, S., 12 whole exome sequencing (WES), 197–98
temper tantrums, 78–79, 89t, 178–79 whole genome sequencing (WGS), 197
theft, 89t Wichstrøm, L., 137
theory of mind, 72, 142–43 Wigham, S., 113
tics, 160, 163
TODS-CR (Tourette’s Disorder Scale— Yale-Brown Obsessive-Compulsive
Clinician Rated), 167 Scale—First and Second Editions (Y-
Tonnsen, B. L., 31 BOCS), 165
Top Jr., D. N., 114 Yale Global Tic Severity Scale
Totsika, V., 33 (YGTSS), 167
Tourette’s disorder (TD), 158 Yew, S. G. K., 92
assessment of, 167 young children
clinical decision tree, 169f diagnostic issues, 4–8
clinical presentation, 160 SPCD, DLD, and ASD differential
co-occurring ASD, 161 diagnosis in, 53–57
symptom overlap and differential
diagnosis, 163 Zander, E., 7–8

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1. Diagnostic Issues and Complexities in Autism and Related Conditions 1

About the Authors 231

Bruce L. Baker, PhD Katherine Gotham, PhD

Rhea Paul, PhD, CCC-​SLP Eric A. Storch, PhD

Diagnostic Issues and

THE DEVELOPMENT OF THE DIAGNOSTIC CONCEPT

Although cases of autism can, in retrospect, be identified before Kanner’s 1943

2 D i f f erential D iagnosis o f A utism S pectrum D isorder

a discussion). These developments led to the decision to include autism as a

DSM-​5: THE ARRIVAL OF THE AUTISM SPECTRUM

Diagnostic Issues and Complexities3

AREAS OF DIAGNOSTIC CONTROVERSY

The Problem of Asperger’s and the Broader Autism Phenotype

4 D i f f erential D iagnosis o f A utism S pectrum D isorder

Somewhat paradoxically, work on what is a very large group of individuals with

Age-​Related Issues in Diagnosis

Diagnostic Issues and Complexities5

6 D i f f erential D iagnosis o f A utism S pectrum D isorder

Diagnostic Issues and Complexities7

8 D i f f erential D iagnosis o f A utism S pectrum D isorder

Autism in Adolescents and Adults

Diagnostic Issues and Complexities9

developmental processes onto a different stage of life. Indeed, during childhood

10 D i f f erential D iagnosis o f A utism S pectrum D isorder

interviewing rather than structured or semi-​structured diagnostic assessments as

Diagnostic Issues and Complexities11

12 D i f f erential D iagnosis o f A utism S pectrum D isorder

Diagnostic Issues and Complexities13

The Problem of Co-​Occurring Conditions

14 D i f f erential D iagnosis o f A utism S pectrum D isorder

American Psychiatric Association. (1980). Diagnostic and statistical manual of mental

Diagnostic Issues and Complexities15

16 D i f f erential D iagnosis o f A utism S pectrum D isorder

De Giacomo, A., & Fombonne, E. (1998). Parental recognition of developmental abnor-

Diagnostic Issues and Complexities17

18 D i f f erential D iagnosis o f A utism S pectrum D isorder

Diagnostic Issues and Complexities19

20 D i f f erential D iagnosis o f A utism S pectrum D isorder

Diagnostic Issues and Complexities21

Autism Spectrum Disorder

Autism Spectrum Disorder Versus Intellectual Disability23

Definition, Assessment, and Prevalence

24 D i f f erential D iagnosis o f A utism S pectrum D isorder

Table 2.1. Recommended components of a diagnostic assessment battery

In classifying the depth of impairments in the two domains discussed above

Autism Spectrum Disorder Versus Intellectual Disability25

Importantly, in clinical practice, it is common to delay formal diagnosis of ID

Behavioral and Mental Health Problems

26 D i f f erential D iagnosis o f A utism S pectrum D isorder

(e.g., attention-​deficit/​hyperactivity disorder, oppositional defiant disorder, de-

Intellectual Disability in the Family System

Autism Spectrum Disorder Versus Intellectual Disability27

sibling adjustment) to practical concerns (e.g., financial challenges, navigating

28 D i f f erential D iagnosis o f A utism S pectrum D isorder

Education and Services for Intellectual Disability

Rhea Paul, PhD, CCC-SLP Eric A. Storch, PhD

2 D i f f erential D iagnosis o f A utism S pectrum D isorder

DSM-5: THE ARRIVAL OF THE AUTISM SPECTRUM

Diagnostic Issues and Complexities3

4 D i f f erential D iagnosis o f A utism S pectrum D isorder

Age-Related Issues in Diagnosis

Diagnostic Issues and Complexities5

6 D i f f erential D iagnosis o f A utism S pectrum D isorder

Diagnostic Issues and Complexities7

8 D i f f erential D iagnosis o f A utism S pectrum D isorder

Diagnostic Issues and Complexities9

10 D i f f erential D iagnosis o f A utism S pectrum D isorder

interviewing rather than structured or semi-structured diagnostic assessments as

Diagnostic Issues and Complexities11

12 D i f f erential D iagnosis o f A utism S pectrum D isorder

Diagnostic Issues and Complexities13

The Problem of Co-Occurring Conditions

14 D i f f erential D iagnosis o f A utism S pectrum D isorder

Diagnostic Issues and Complexities15

16 D i f f erential D iagnosis o f A utism S pectrum D isorder

Diagnostic Issues and Complexities17

18 D i f f erential D iagnosis o f A utism S pectrum D isorder

Diagnostic Issues and Complexities19

20 D i f f erential D iagnosis o f A utism S pectrum D isorder

Diagnostic Issues and Complexities21

Autism Spectrum Disorder Versus Intellectual Disability23

24 D i f f erential D iagnosis o f A utism S pectrum D isorder

Autism Spectrum Disorder Versus Intellectual Disability25

26 D i f f erential D iagnosis o f A utism S pectrum D isorder

(e.g., attention-deficit/hyperactivity disorder, oppositional defiant disorder, de-

Autism Spectrum Disorder Versus Intellectual Disability27

28 D i f f erential D iagnosis o f A utism S pectrum D isorder

Autism Spectrum Disorder Versus Intellectual Disability29

30 D i f f erential D iagnosis o f A utism S pectrum D isorder

Autism Spectrum Disorder Versus Intellectual Disability31

32 D i f f erential D iagnosis o f A utism S pectrum D isorder

Autism Spectrum Disorder Versus Intellectual Disability33

34 D i f f erential D iagnosis o f A utism S pectrum D isorder

Looking Ahead: Autism Spectrum Disorder and/

Autism Spectrum Disorder Versus Intellectual Disability35

36 D i f f erential D iagnosis o f A utism S pectrum D isorder

about the co-occurrence of ID is more than an academic exercise. It is crucial

Autism Spectrum Disorder Versus Intellectual Disability37

38 D i f f erential D iagnosis o f A utism S pectrum D isorder

Autism Spectrum Disorder Versus Intellectual Disability39

40 D i f f erential D iagnosis o f A utism S pectrum D isorder

Autism Spectrum Disorder Versus Intellectual Disability41

42 D i f f erential D iagnosis o f A utism S pectrum D isorder

Autism Spectrum Disorder Versus Intellectual Disability43

van Asselt-Goverts, A. E., Embregts, P. J. C. M., Hendriks, A. H. C., Wegman, K. M.,

Autism Spectrum Disorder Versus Communication Disorders45

46 D i f f erential D iagnosis o f A utism S pectrum D isorder

Autism Spectrum Disorder Versus Communication Disorders47

48 D i f f erential D iagnosis o f A utism S pectrum D isorder

Autism Spectrum Disorder Versus Communication Disorders49

It is important to clarify that ASD and SPCD cannot be ascribed as co-occurring

50 D i f f erential D iagnosis o f A utism S pectrum D isorder

Autism Spectrum Disorder Versus Communication Disorders51

Autism Spectrum Disorder Versus Communication Disorders53

Test Age/Grade Levels Area(s) Assessed

Test Age/Grade Levels Area(s) Assessed

Test of Pragmatic Language—Second 6–18 years Pragmatics

56 D i f f erential D iagnosis o f A utism S pectrum D isorder