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Differential Diagnosis of
Autism Spectrum Disorder
ii
iii
Differential Diagnosis of
Autism Spectrum Disorder
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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Differential Diagnosis of Autism Spectrum Disorder Katherine K M Stavropoulos Full Chapter

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Differential Diagnosis of Autism

Spectrum Disorder Katherine K. M.

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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

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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

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Age-Related Issues in Diagnosis

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interviewing rather than structured or semi-structured diagnostic assessments as

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Diagnostic Issues and Complexities13

The Problem of Co-Occurring Conditions

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