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DEVELOPMENTAL DISABILITIES

RESEARCH REVIEWS 17:130-140(2011)

DIFFERENTIATING AUTISM SPECTRUM


DISORDER FROM OTHER DEVELOPMENTAL
DELAYS IN THE FIRST TWO YEARS O F LIFE
Shelley Mitchell/* Janis Oram Cardy,^ and Lonnie Zwaigenbaum^
Department of Speech-Language Pathology, University of Toronto, Ontario, Canada
School of Communication Sciences and Disorders, Westem University, London, Canada
Department of Pediatrics, University of Alberta, Edmonton, Canada

Advances in the identification of the early signs of autism spectrum disorder (ASD) have occurred despite the heterogeneity of the disorder and its variable onset and presentation. Using various
methodologies including retrospective studies, community samples, and
sibling cohorts, researchers have identified behavioral markers of the disorder that emerge over the first 2 years of life. However, there are characteristics of ASD that overlap with other types of developmental delay
(DD), which may complicate differential diagnosis in young children. A
review of the literature was conducted to identify the most promising
behavioral markers that distinguish ASD from other types of DD in the
first 2 years of life. The review Identified profiles of behavioral markers in
the social realm by 12 months and in the communication realm by 18
months, which along with additional atypical motor behaviors could distinguish ASD from DD. This constellation of features coupled with a flat
or declining trajectory in specific aspects of social and communication
development, may assist clinicians in targeting early interventions to atrisk infants.
2013 Wiley Periodicals, Inc.
Dev Disabil Res Rev 2011;17:130-140.

Key words: autism; developmental delay; differential diagnosis; infants;


toddlers; early identification

n the past decade, an increasing number of researchers


have studied the emergence of autism in the first 2 years
of hfe. In part, these increasing efforts to identify the earliest possible signs of autism spectrum disorder (ASD) emanate
from the understanding that earlier diagnosis of ASD leads to earlier intervendon, which yields the most optimal outcomes. More
than a decade ago, the American Academy of Neurology and
Child Neurology Society recommended that primary care providers conduct routine screening for ASD. A multidisciplinary
panel outlined five milestones that, if infants failed to meet,
would warrant further assessment (i.e., no babbhng and/or no
gesturing by 12 months, no single words by 16 months, no twoword spontaneous phrases by 24 months, and any loss of any language or social skills at any age [Filipek et al., 1999]). However,
failure to meet these milestones may identify infants with ASD
concerns, infants with hearing impairment, and infants with developmental delay. While isolated hearing impairment is readily
distinguished from ASD, developmental delay is less so.
The term developmental delay is used clinically and in
research studies with variable definitions. Developmental delay

2013 Wiley Periodicals, Inc.

can imply that typical development has been disrupted, while


keeping open the possibihty of normal outcome (e.g., late talkers), but is also used descriptively to signify delayed acquisition
of developmental nxilestones. Therefore, it often includes children with specific language impairment and global
developmental delay (i.e., intellectual impairment with delays
in two or more domains such as adaptive skills, motor skills). In
addition, developmental disability has been used as a diagnostic
category indicating lifelong intellectual disability/mental retardation or physical disability. Further clinical assessment,
informed by current research findings, is therefore necessary in
order to differentiate infants with trajectories resulting in a diagnosis of ASD versus developmental delay. Extensive research
has demonstrated that signs of ASD may appear in the first year
of hfe, and that, by the end of the second year, there are clear
social communication and behavioral markers of the disorder.
These markers rehably distinguish infants with ASD fi-om typically developing infants. However, differentiating infants with
ASD fi-om those with other types of developmental delays (e.g..
Specific Language Impairment, late-talkers. Global Developmental Delay), poses an additional challenge because infants
with ASD may present with developmental differences in
domains (e.g., language acquisition, motor development) that
are also impacted by other neurodevelopmental disorders.
ASD is a heterogeneous disorder and thus variable in its
presentation and onset of symptoms. It is often characterized
not only by absence of typical behaviors (e.g., acquisition of
developmental milestones) but also the presence of atypical
behaviors (e.g., unusual motor or sensory behaviors). Therefore, it is also important to evaluate the presence/absence,
firequency, and quality of behaviors that may contribute to a
constellation of early signs of ASD, and recognize that there

Correspondence to: Shelly Mitchell, Hospital for Sick Children, 555 University
Avenue, Toronto, ON M5G 1X8, Canada. E-mail: Sheliy.Mitchell@Utoronto.Ca
Received 3 September 2012; accepted 5 October 2012
View this article online in Wiley Online Library (wileyonlinelibrary.com)
DOI: 10.1002/ddrr.llO7

may be individual differences in the


early presentation among children with
the disorder.
Parents are often the first to recognize concerns regarding their infants'
development. Between 30 and 50% of
parents of infants later diagnosed with
ASD recalled atypical behaviors in the
first year of life [Hoshino et al., 1987;
Gilberg et al., 1990]. The majority of
parents reported concerns between 18
and 24 months of age, the most common of which was delayed onset of
spoken words [De Giacomo and Fombonne, 1998]. However, parents of
infants later diagnosed with developmental delay also frequently reported
concerns about their infants' development at an early age. In a study
comparing mental and chronological
age-matched 2-year olds with autism or
developmental delay, Coonrod and
Stone [2004] found that parents of
infants in both groups did not differ in
the age at \vhich they became concerned (between 16 and 18 months), or
sought help (between 22 and 24
months), or in the number of initial or
current areas of concern. Parents in
both groups identified delayed language
development as their most common
initial concern.
Differentiating infants and toddlers who have ASD from those who
do not is a critical step toward the goal
of initiating appropriate treatments as
early as possible. Arguably, interventions most effective for very young
children with ASD may be different
than those for other types of developmental delays. Research examining
interventions targeted specifically to
infants and toddlers with ASD is scarce.
However, recent studies that included
toddlers (e.g.. Early Start Denver Model
Pawson et al., 2010]; Pivotal Response
Treatment [Bryson et al., 2007])
showed promising outcomes thus lending support to intervention strategies
that are diagnosis-specific. Moreover,
effective interventions for older children
with this disorder are indeed specific to
ASD [for reviews see Rogers, 1998;
Bryson et al., 2003], suggesting that
treatments must target core impairments
to ensure acquisition of skills in children with ASD. Likewise, treatments
known to be effective with older children with ASD may not be appropriate
for very young children [Zwaigenbaum
et al., 2009]. Thus, interventions for
infants and toddlers with ASD need to
be both impairment-specific and developmentaUy appropriate. It is important
to recognize, however, that these interDEV DISABIL RES REV - MITCHELL ET AL.

ventions may not be appropriate for


children with other developmental
delays, again highlighting the importance of differentiating infants with
ASD from those with other diagnoses.
The purpose of this article was to
identify the most promising behavioral
markers that distinguish ASD from
other types of developmental delays.
First, we review the extant literature on
signs that distinguish infants and toddlen with ASD from those with typical
development. Second, drawing from
the findings from multigroup studies
across a range of methodologies, we
highlight those signs that are shared
with children with developmental delay
as well as those that are unique to ASD
(i.e., promising behavioral markers).
Developmental differences that are
highlighted are anchored at developmentally salient age points (up to 12,
18, and 24 months). Proposed behavioral markers include consideration of
social, communication/language/play,
and motor domains, as well as temperament and other behaviors.
Advances in the early detection of
autism have benefited from studies
employing varying design methodologies. These include retrospective
identification of symptoms (either from
parent report or home videos of infants
later diagnosed with autism) and prospective studies of high-risk infants (i.e.,
infants with an older sibhng with autism
or identified through community
screening or clinical referral). Retrospective studies have offered significant
insights about early manifestations of
ASD and can readily accommodate
comparison groups, including those
with developmental delay. However,
retrospective studies have several methodological hmitations, including recall
bias (e.g., behaviors more closely related
to later manifestations of ASD may be
more easuy recalled), sampling issues
(e.g., home videos are often restricted
to certain contexts and may not capture
the child's usual behavior), and variability in the ages and contexts sampled
both within and across studies [see Palomo et al., 2006, for a review].
Prospective studies of high-risk infant
sibhngs provide an opportunity to more
systematically sample and measure
behaviors of interest, and generate longitudinal data to track trajectories of
symptom emergence. Including comparison groups of infants who are high
risk for developmental delays in prospective infant sibling designs is a
challenge, as risk factors for idiopathie
developmental delay (by definition) are

difficult to identify, and groups with


known risk factors (e.g., Down's syndrome) may not be sufficiently
representative. However, prospective
studies focused on community-referred
samples of infants who have failed a
broad developmental screening have
allowed researchers to compare the profiles of infants with ASD and
developmental delay. A synthesis of the
findings across the range of available
study designs (i.e., from retrospective
and prospective) that differentiate ASD
from typical development and ASD
from developmental delay are included
in this review.
METHOD
Two
computerized
databases
(PsycINFO, Scopus) were searched for
relevant articles using several combinations of the following terms: autism,
autistic disorder, autism spectrum disorder, pervasive developmental disorder,
infant, toddler, baby, child, developmental delay, developmental disability,
late talker, language delay, language
impairment. Additionally, reference hsts
of retrieved articles were searched along
with prior reviews [e.g., Yirmiya and
Charman, 2010]. We included studies
examining autism symptoms in infants
and toddlers in the first 2 years of life
from a range of methodologies (e.g.,
retrospective, prospective). We included
both studies comparing ASD and typical development, and multigroup
studies that additionally had a developmental delay comparison group. Only
studies published in English were
included.
Studies included in this review
that incorporated comparison groups of
children with delays in development
but not ASD (hereafter Developmental
Delay or DD) used variable case definitions. Children in the DD comparison
groups reported here all had delays in
the acquisition of developmental milestones and confirmed delays as directly
assessed using standardized measures
(e.g., Mullen Scales of Early Leaming,
MSEL [Mullen, 1995]) and/or based on
parent-report (e.g., Vineland Adaptive
Behavior Scales; VABS [Sparrow et al.,
1984]; Communication and Symbolic
Behavior Scales: Infant Toddler Checkhst; CSBS-ITC [Wetherby and Prizant,
2002]). Therefore, for the purposes of
this article, the term DD refers to comparison groups that included children
who were identified as having developmental
language
delay.
Down
syndrome, inteUeetual disabihty as well

131

other broad delays without a specific


diagnostic label.
Although every effort was made
to identify behaviors in each developmental domain at sahent time points,
many studies included a broad age
range. Studies that reported summary
data across more than one age category
(e.g., 12-18 months, 18-24 months)
were classified based on the upper end
of the age range for the purpose of this
review. Although behaviors that differentiated children with ASD firom those
with typical development or DD may
have been present somewhat earlier in
development in such studies, identified
behaviors can only be considered to be
unambiguously present by 2 years. In
addition, we use the term infants with
ASD to refer to children with diagnoses
of ASD whose infant data were
reported in retrospective studies or
were considered to be at risk for ASD
as infants and went on to receive a diagnosis of ASD upon prospective
foUow-up. A final point with respect to
definitions of behaviors relates to the
inclusion of play behaviors under the
category of communication. Symbolic
play actions can include actions with
toy objects (sometimes referred to as
recognitory gestures) and those without
objects in hand (referred to as representational gestures). Some researchers
have argued that symbolic play actions
are distinct firom gestures because they
are produced with an object in hand
(e.g., drinking fi-om a toy cup) and are
not in and of themselves communicative [Acredolo and Goodwin, 1988;
Iverson et al., 1994]. On the other
hand, several lines of evidence support
the category of recognitory gestures,
arguing that these behaviors, like representational
gestures,
demonstrate
knowledge of functions or attributes of
objects, which represents symbohc
understanding that contributes to language development [Wemer and
Kaplan,
1963;
Escalona,
1972;
McCune-Nicholich, 1981; Bates et al.,
1983;
Caselli,
1990;
McCune,
1995].Thus, for the purpose of this
review, symbolic play actions include
recognitory gestures and thus are
reviewed within the category of
communication.
For the purposes of this article,
the social and communication domains
are described separately. We acknowledge that these domains are not
functionally independent. However,
some early social behaviors are prelinguistic and may predate the emergence
of intentional communication behav-

132

iors.
Given
that
social
and
communication impairments are differentiated within current diagnostic
frameworks (i.e., DSM-IV-TR and
ICD-10), we examined group comparisons in each domain separately. Thus,
we summarize available data on early
markers, comparing groups with ASD,
DD and typical development (TD)
wherever possible, by age group (by 12,
18, and 24 months) and across developmental domains: social, communication,
motor, and temperament. Other relevant behaviors, including differences in
sensory seeking behavion, visual attention differences, and atypical object
exploration have been amalgamated
under the subheading Other behaviors
because of the limited number of studies examining these features. Key
findings in each age group are summarized in Table 1.
REVIEW FINDINGS
By 12 Months of Age
Social
ASD

compared with typical development.

Several retrospective parent report and


home-video studies of infants later diagnosed with ASD have reported atypical
development of social behaviors by 12
months of age. Infants later diagnosed
with ASD were distinguished from
infants with TD by showing atypical
pattems of social orienting and attention
[Adrien et al., 1993; Osteding and
Dawson, 1994; Baranek, 1999; Maestro
et al., 2001; Osterling et al., 2002],
social affect [Clifford and Dissanayake,
2008], frequency and quahty of eye
contact [Clifford and Dissanayake,
2008], lack of appropriate facial expressions [Adrien et al., 1993], social
smiling [Adrien et al., 1993; Maestro
et al., 2001, 2005], and directed smiling
[Wemer et al., 2000]. Infants who went
on to have a diagnosis of ASD were
also less likely to respond to their name
[Baranek, 1999; Wemer et al., 2000;
Osteding et al., 2002] and showed difficulties anticipating another's aim, even
by 6 months of age [(Maestro et al.,
2001, 2005]. Notably, infants with
later-onset ASD (i.e., parents first
noticed abnomiahties after 12 months
of age) were reported to have a better
ability to attend to objects held by
others, look at others, and respond to
their name than those with early onset
ASD [Osteding et al., 2002].
Prospective studies of at-risk
infants also reported social differences

between groups with ASD and TD.


Zwaigenbaum and colleagues reported
that infants with later ASD showed
atypical social development relative to
control infants. By 12 months of age,
infants with ASD had decreased social
interest and affect, social smiling, orienting to name, and imitation, as well
as atypical eye contact as measured by
the Autism Observation Scale for
Infants [Bryson et al., 2008] compared
with infants with TD [Zwaigenbaum
et al., 2005]. Response to name also
differentiated infants with and without
ASD in Nadig et al. [2007]. Ozonoff
et al. [2010] found that infants with
ASD gazed at faces less often than
infants with TD at 12 months.
ASD compared with DD. Using retrospective video analyses, three classes of
social behaviors were found to discriminate infants with ASD from those with
DD in the first year of life. First,
response to name was observed significantly less often in infants with ASD
than those with DD [Baranek, 1999;
Osterling et al., 2002]. Second, firequency and quality of affect expressions
was one of the main behaviors that best
discriminated ASD firom DD in a discdminant function analysis [Baranek,
1999]. Third, use of gaze to modulate
social interactions (e.g., reduced gaze to
faces and playing peekaboo, increased
unpredictable eye contact) was more
limited in children with ASD relative
to those with DD [Osteding et al.,
2002; Clifford and Dissanayake, 2008].
However, some gaze behaviors might
not be markers of ASD. For example,
looking at objects (both held and not
held by people) did not differentiate
infants who had both early-onset of
ASD and low IQ fi-om those with DD
[Osterling et al., 2002]. Baranek [1999]
found infants with DD to have less
looking at the video camera/videographer than those with ASD.
Communication
ASD compared with TD. Retrospective
studies of home videos identified
impairments in the development of
communication before 12 months of
age unique to infants with later autism
diagnosis. By 6 months of age, infants
with ASD could be differentiated fi-om
typical infants on the basis of difficulties
with pointing comprehension [Maestro
et al., 2001] and directing vocalizations
[Maestro et al., 2001, 2005]. By 12
months of age, infants with autism had
decreased declarative pointing, used
fewer communicative gestures overall
DEV DISABIL RES REV-MITCHELL ETAL.

Table 1. Behaviors that distinguish infants with ASD from


those with DD, by developmental period
Domains
Social
12 Months
18 Months

2 Years

Communication/language
12 Months
18 Months

2 Years

Motor
12 Months
18 Months
2 Years

Temperament
0-2 Years
Other behaviors
12 months
18 months
2 Years

ASD compared with DD

Response to name, expression of affect, gaze to


modulate social interactions reduced in ASD
Response to name, expression of affect, gaze to
modulate social interaction remain stable or
improve from 1st to 2'"' year in DD but are
not improving or declining in ASD
Response to name, expression of afFect, gaze to
modulate social interactions, and anticipatory
postures reduced in ASD. Formal and standardized measures of social behavior consistently
lower for ASD versus DD. (VABS, Social
Behavior Checklist, and social items from the
ADOS and CA1.S)
No communication/language/play markers differentiate ASD and DD
Communicative gestures (following points, using
gestures to request and comment) are reduced
infrequency and/or have atypical quality
Communicative gestures, possible unique greater
expressive than receptive language profile.
reduced vocalizations with consonants. Standardized measures of communication consistently lower for ASD than DD on the VABS
Unusual posturing did not differentiate ASD
from DD (one study)
No studies comparing ASD and DD
Standard measures had equivocal findings
(MSEL weaker gross and fine motor in ASD
than DD whereas VABS Motor scale were
inconsistent). Repetitive movement or posturing differentiated ASD from DD (one study)
No studies comparing ASD and DD
Atypical object use, especially unusual visual ex-ploradon BUT visual fixation on objects and repetitive actioas did not differentiate ASD from DD
No studies comparing ASD and DD (although
many studies included 18 month olds in their
sample at 24 months, see below)
More repetitive movements and atypical sensory
responses in ASD than DD

infants with ASD had atypical motor


behaviors related to typical controls, as
early as 6 months [Bryson et al., 2007].
In a study of high-risk infant sibhngs
beginning at age 5 months, Iverson and
Wozniak [2007] showed that the group
with ASD had a higher proportion of
infants with delayed onset of independent sitting and walking relative to the
median age of onset in the typical
group. In addition, infants with ASD
showed postural instability. In a preliminary study of 40 high-risk infant
sibhngs, Flanagan et al. [2012] reported
that head lag (as coded using chnical
judgment from videotaped MSEL
assessments) was present at 6 months in
9 of 10 children (90%) diagnosed with
ASD at 30 to 36 months, compared
with 6 of 17 (35%) of nondelayed
infants. Bolton et al. [2012] recendy
reported that fine motor behaviors were
among a larger set of parent-report
items on a general developmental
screener that were informative for risk
of ASD at 6 months.
ASD compared with DD. No motor
behaviors were found to specifically discriminate ASD from DD in the first year
of hfe. In a retrospective study, Baranek
[1999] reported similar rates of unusual
posturing in their groups with ASD and
with DD. Flanagan et al. [2012] reported
that 7 of 13 (54%) high-risk infants who
were noted to have social communication
delays (but not ASD) at 30 to 36 months,
had head lag at 6 months compared with
9 of 10 (90%) with ASD, but this difference did not reach statistical significance.
Temperament

ASD compared with TD. In their retrospective study, Adrien et al. [1993]
described
unstable attention
and
increased distractibihty in infants who
niunication realm. Osterhng et al.
[Osterhng and Dawson, 1994; Maestro
went on to have a diagnosis of ASD
[2002] found that infants with ASD did
et al., 2001; Osterling et al., 2002], and
relative to infants with TD. Infants
not differ in frequency of gestures and
looked less at objects shown to them
with ASD were also reported to show a
vocalization from infants with DD. Bar[Osterhng et al., 2002].
pattern of lower activity level and
anek [1999] found that infants with DD
Prospective studies also reported
marked passivity at 6 months in prohad
increased
stereotyped
object
play
as
that infants with ASD show delays in
spective studies [Zwaigenbaum et al.,
well as increased stereotyped, inapprothe acquisition of communicative and
2005]. By 12 months, temperamental
priate play relative to infants with ASD.
symbolic gestures [Zwaigenbaum et al.,
differences from controls included
Therefore, to date, no communication2005; MitcheU et al., 2006; Iverson and
extreme distress reactions, decreased
related
markers
specific
to
ASD
were
Wozniak, 2007], reduphcated babbling
positive affect, reactivity, and irritability
confirmed for the first year of life.
[Iverson and Wozniak, 2007], directed
[Zwaigenbaum et al., 2005; Bryson
vocalizations [Ozonoff et al., 2010],
et
al., 2007]. No studies were identified
receptive
language
[Zwaigenbaum
Motor
that compared children with ASD with
et al., 2005; Ozonoff et al., 2010], and
expressive language
[Zwaigenbaum
ASD compared with TD. Retrospective those with DD in the first year of hfe.
et al., 2005; Iverson and Wozniak,
analyses of home videos have identified
2007; Ozonoff et al., 2010].
Other behaviors
hypotonia [Adrien at al., 1993] and unASD compared with DD. Few studies usual posturing [Baranek, 1999] in
compared infants with a later diagnosis
ASD compared with TD. Differences
infants with ASD relative to infants
of ASD to those with DD in the conibetween toddlers with ASD and TD
with TD. In a prospective case series.
DEV DISABIL RES REV- MITCHELL ET AL.

133

toddlers were observed in a number of


areas. In the realm of visual attention, the
prospective study by Zwaigenbaum et al.
[2005] evaluated infants' ability to disengage their visual attention from one
stimulus in order to shift visual attention
to a new stimulus. Findings showed that
although latency of disengagement of
attention did not differentiate groups at 6
months, changes in performance on this
task between 6 and 12 months differentiated ASD from control infants. Infants
with TD showed either no change or
decreased latency between 6 and 12
months whereas 100% of the infants with
ASD showed increased latency of disengagement. Furthermore the infants with
ASD had atypical visual tracking [Zwaigenbaum et al., 2005].
From a sensory perspective,
impairments in toddlers with ASD
included excessive mouthing, aversion
to social touches [Baranek, 1999] and
atypical sensory behaviors [Zwaigenbaum et al., 2005; Bryson et al., 2007].
In a retrospective video analysis, Osterhng et al. found that infants with ASD
had more repetitive behaviors, atypical
actions, and actions with objects, than
controls [OsterUng et al., 2002]. In their
prospective study of object manipulation skills, Ozonoff et al. [2008] found
that infants with ASD were no different
from TD infants in typical uses of
objects such as throwing and mouthing,
but showed significandy more atypical
uses, specifically rotating, spinning and
unusual visual exploration.
ASD compared with DD. Ozonoff et al.
[2008] included a comparison group of
infants with DD in their object manipulation study. The groups did not differ
in age-appropriate uses of objects, but
the infants with ASD had more atypical
uses of objects than those with DD.
Using the performances of their group
with TD as a normative sample, the
authors generated -scores for atypical
uses of objects for each infant. The majority (78%) of the children with ASD
performed more than 2 SD above the
mean on at least one atypical object use,
compared with roughly half of those
with DD and a quarter of those with
TD. In particular, almost all of the
infants with ASD showed unusual visual
exploration, with a group mean x-score
greater than 4. This latter behavior was
strongly related to scores on the Autism
Diagnostic Behavior Scales (ADOS)
[Lord et al., 2000] and the developmental delays as measured by the MSEL at
36 months. However, other studies
have not found evidence of ASD-specific repetitive behaviors at this age. For

134

example, Baranek [1999] reported that


infants with DD had increased visual
fixation on objects relative to those with
ASD, and another study found that
infants with ASD did not differ fi-om
those with DD in frequency of repetitive actions [Osterling et al., 2002].
Summary of Behavioral Markers at
12 Months
By 12 months of age, ASD and
DD appear to be mainly distinguished
by social behaviors and atypical use of
objects (Table 1). In the social domain,
response to name, expression of affect,
gaze to modulate social interaction and
social smiling are impaired in infants
with ASD relative to those with DD.
Other behaviors in the first year that distinguish children with ASD from those
with DD include more atypical object
use, including repetitive actions with
objects and unusual visual exploration.
By contrast, no communication markers
were found that specifically differentiate
ASD firom DD before 12 months. To
date, only two studies compared communication, language, and play in infants
with ASD and DD in the first year of
life. These studies indicated that either
there were no differences between these
groups of infants (i.e., frequency of gestures and vocalization), or infants with
DD had poorer skills than infants with
ASD (i.e., stereotyped play). It is important to note that both studies were
retrospective, therefore, behaviors were
not elicited but rather observed in the
context of spontaneous interaction, thus
limiting the range of communicative and
play behaviors that could have been
sampled.
It is not yet clear whether ASD can
be readily distinguished firom DD on the
basis of motor development during
infancy because there are hmited studies
comparing infants with ASD and DD on
this basis. In the first year of life, Flanagan
et al. [2012] found a nonsignificant trend
for head lag to occur more often in
infants with ASD than DD. Baranek
[1999] found no difference in unusual
posturing between infants with ASD and
DD, but the retrospective design may
have led to restricted samphng of behaviors. To date, no studies compared
groups with ASD and DD with respect
to temperament in the first year.
By 18 Months of Age
Social
ASD compared with TD. Prospective
studies identified poorer gaze shifts in

14-month old infants with ASD [Landa


et al., 2007] and reduced gaze to faces
in 18-month-old infants with ASD
[Ozonoff et al., 2010] relative to infants
with TD. Infants with ASD were also
found to show fewer instances of shared
positive affect [Landa et al., 2007] and
social smiles [Ozonoff et al., 2010].
Yoder et al. [2009], in a study of 43
high-risk infant siblings, reported that
response to joint attention at 15 months
predicted not only ASD diagnosis, but a
continuum of social-communication
impairment at 34 months. Sullivan
et al. [2007] also reported that response
to joint attention at 15 months predicted risk of subsequent ASD diagnosis
in a high-risk sample.
ASD compared with DD. A number of
these behaviors were also found to discdminate children with ASD from
those with DD. Impaired gaze behaviors, including reduced frequency and
quality of eye contact and gaze switching, were found in children with ASD
relative to children with DD in Clifford
and Dissanayake's retrospective study
[2008], however, the groups did not
differ in social smiling. The authors also
found that toddlers with ASD had atypical affect behaviors (e.g., initiating
smiles, responsive smiles, and appropriate use of emotions), reduced social
referencing and decreased response to
name compared with the group Nvith
DD. Moreover, they found that infants
with ASD had declining eye contact
behaviors and increasingly atypical affect
behaviors fi-om the first to second year
of hfe, whereas those with DD maintained similar levels of these behaviors
across this period. In addition, the children with ASD showed litde change in
gaze switching and social referencing as
compared to improvements that were
seen in the children with DD over this
time frame.
Communication
ASD compared with TD. Gestures were
found to be delayed in 14- to 18month olds with ASD relative to typical
controls in both retrospective [Maestro
et al., 2001] and prospective studies
[Landa et al., 2007; Brian et al., 2008].
Brian et al. [2007] identified pointing as
a particularly significant area of impairment relative to controls in the gesture
domain. Prospective studies also identified significantly fewer communicative
initiations (e.g., joint attention, behavior regulation), smaller inventories of
action schema [Landa et al., 2007], hmited consonant inventory [Landa et al.,
DEV DISABIL RES REV- MITCHELL ET AL.

[Ozonoff et al., 2010], sharing enjoyment and interest [Wetherby et al.,


2004]. Gaze related differences in children with ASD included reduced gaze
to faces [Ozonoff et al., 2010], appropriate gaze, coordination of gaze
[Wetherby et al., 2004], and eye contact. Affective differences included
reduced social sniihng [Ozonoff et al.,
2010] and warm joyful expression with
gaze, facial expression [Wetherby et al.,
2004]. Finally, lack of response to name
was noted in children with ASD relative to TD at this age [Wetherby et al.,
2004].
ASD compared with DD. Several studies identified impairments on measures
of social functioning in children with
ASD relative to those with DD, including the Social Behavior Checklist
[Coonrod and Stone, 2004], VABS
At Two Years
sociahzation scale [Thurm et al., 2007;
Ventola et al., 2007; Watt et al., 2008],
Socialization
and social interaction items from the
ASD compared with TD. Retrospective ADOS and Childhood Autism Rating
Scale (CARS) [Schopler et al., 1980;
studies identified several markers of
Ventola et al., 2007]. Chdren with
reduced social engagement that differASD were reported to demonstrate hmentiate 2-year olds with ASD relative to
ited responsiveness to others relative to
children with TD. Particularly pron-iithose with DD, including less peer innent were behaviors related to reduced
terest [CHfford et al., 2007] and reduced
interest in others, including ignoring
sharing of enjoyment or interest
people, preferring to be alone, poor
Motor
[Wetherby et al., 2004]. Gaze behaviors
social interaction [Adrien et al., 1993]
that differentiated groups with ASD
ASD compared with TD. In prospective and reduced peer interest [Cbfford
firom DD included reduced frequency
et al., 2007]. A number of delayed or
studies, Landa and Garrett-Mayer [2006]
and quality of eye contact, increased
atypical gaze behaviors in children with
found lower fine and gross motor scores
gaze aversion [Clifford et al., 2007], lack
ASD
included
frequency
and/or
quahty
on the MSEL in toddlers with ASD relaof appropriate gaze and lack of coordiof eye contact [Adrien et al., 1993;
tive to those with TD, whereas the
nation of gaze [Wetherby et al., 2004].
Chfford et al., 2007], lower proportions
groups with ASD and TD in the study by
Children with ASD also showed
of looking at faces and people, reduced
Ozonoff et al. [2010] differed on the fine
reduced positive affect [Clifford et al.,
alternating gaze [Mars et al., 1998], and
motor but not gross motor scale.
2007], warm joyful expression with
increased gaze aversion [Clifford et al.,
Reduced motor control [Brian et al.,
gaze, and facial expressions [Wetherby
2007]. Reduced emotional expression
2008] and postural instabihty [Iverson
et al., 2004] compared with children
in children with ASD included a lack
and Wozniak, 2007] were also identified
with DD. However, these groups did
of appropriate facial expressions, no
as weaker in toddlers with ASD relative
not differ in negative affect and social
expression of emotions, [Adrien et al.,
to those with TD at 18 months. No studsn-dling at age 2 [Clifford et al., 2007].
1993],
and
reduced
positive
affect
[Clifies were found comparing toddlers with
Reduced response to name differentiford et al., 2007]. While Adrien et al.
ASD to those with DD in motor behavated groups with ASD firom DD in
[1993] found differences between 2iors at this age range.
Wetherby
et al. [2004] prospective
year olds with ASD and TD with
study
as
well
as the retrospective Chfrespect
to
social
smiling,
Clifford
et
al.
Temperament
ford et al. [2007] study. Finally,
[2007] did not. Reduced response to
presence of anticipatory postures was
ASD compared with TD. Brian et al. name was noted in children with ASD
observed less often in children with
relative
to
controls
in
several
retrospec[2008] reported that 18-month olds subASD than DD [Clifford et al., 2007].
tive
studies
[Mars
et
al.,
1998;
Clifford
sequently diagnosed with ASD were
et al., 2007]. Finally, Clifford et al. also
observed to more firequently have diffifound reduced anticipatory posturing in
culty with transitions relative to controls
Communication and language
children with ASD.
[Brian et al., 2008]. No pubhshed studies have compared temperamental
ASD compared with TD. Retrospective
A number of prospective studies
features in ASD and DD at this age.
also showed social differences between
analyses of home videos identified a
ASD and TD. Elements reflecting
number of communication deficits in
reduced interest in others in children
children with ASD relative to typical
Sutntnary of Behavioral Markers at
with ASD relative to those with TD
controls at 2 years of age. These
18 Months
included reduced shared positive affect
included reductions in overall use of
By 18 months of age, toddlers
[Landa et al., 2007], social engagement
gestures [Adrien et al., 1993; Maestro
with ASD continue to be reliably dis-

2007], fewer directed vocalizations


[Ozonoff et al., 2010], and delayed
receptive and expressive language
[Zwaigenbaum et al., 2005; Landa and
Garret-Mayer, 2006; Iverson and Wozniak, 2007; Ozonoff et al., 2010] in
toddlers with ASD relative to toddlers
with TD.
ASD compared with DD. Gesture is a
main area of communication that has
discriminated ASD from DD within
this age range. Clifford and Dissanayake
[2008] found that children with ASD
were delayed, compared with children
with DD, in their ability to foUow a
point, point to request or comment,
show and give. In addition, they had a
lower frequency and more atypical
quality of requesting than those with
DD, but the groups did not differ in
their frequency of responding to
requests. From a developmental perspective, the children with ASD
showed little improvement in following
a point and pointing to request from
the first to second year of life, while
those with DD improved. However,
the remaining gestural behaviors either
remained stable or increased in both
groups over time.

DEV DISABIL RES REV MITCHELL ET AL.

tinguished from those with DD by


social behaviors, including response to
name, expression of affect, and gaze to
modulate social interaction (see Table
1). In terms of communication behaviors at this age, reduced/atypical use of
gesture and reduced consonant production emerged as informative for
differentiating between ASD and DD.
No studies were found that compared
children with ASD to those with DD
in motor development, temperament or
other behaviors at 18 months. Difficulties with transitions in children with
ASD relative to children with TD
[Brian et al., 2008] is worthy of future
comparison with children with DD to
detern-iine whether it could serve as a
behavior marker of ASD at 18 months.

135

et al., 2001], as well as in specific gesbeen inconsistent. While EUis Weismer


tures such as showing and pointing to
et al. [2010] reported lower scores on
comment [Mars et al., 1996; Chfford
both the receptive and expressive lanet al., 2007]. Impairments in shared
guage subscales for children with ASD
attention,
meaningful
vocalization
relative to those with DD, Landa and
[Maestro et al., 2001] and verbal imitaGarrett-Mayer [2006] found weaker
tion [Mars et al., 1996] were also
receptive but not expressive scores, and
reported. Clifford et al. [2007] found
others have found no differences [Venno differences between children with
tola et al., 2007; Watt et al., 2008].
ASD and TD in social and requesting
Results on the VABS have been more
gestures. Differences in receptive and
consistent, with lower scores for children
expressive language were also reported,
with ASD being seen on the Communiincluding reduced ability to follow
cation domain or receptive and
directions and limited expressive vocabexpressive language subdomain scores
ulary [Mars et al., 1996]. Functional
[Thurm et al., 2007; Ventola et al.,
and pretend play behaviors did not dif2007; Watt et al., 2008; Ellis Weismer
ferentiate children with ASD and TD
et al., 2010]. Coonrod and Stone [2004]
in the Clifford et al. retrospective study.
found that children with ASD were
Several prospective studies found
reported to use fewer words and gestures
reduced skill levels in children with
than those with DD on the CDI. In the
ASD relative to those with TD on forratings, however, the range of scores
mal communication and language
overlapped substantially (e.g., 1431 gesmeasures, including language subscales
tures used by the group with ASD
of the MSEL [Zwaigenbaum et al.,
compared with 15-34 used by the group
2005; Landa and Garrett-Mayer, 2006;
with DD). Luyster et al. [2007] found
Watt et al., 2008; Ozonoff et al., 2010],
that children with ASD passed a signifithe CSBS [Wetherby et al., 2004], and
cantly lower proportion of CDI items
the MacArthur-Bates Communicative De- than children with PDD-NOS and DD
velopment Inventory (CDI) [Fenson et al., on all aspects measured, including pre1993] early gestures portion [Luyster
verbal communication, later-emerging
et al., 2007]. Children with ASD, but
gestures, receptive vocabulary, expressive
not those with PDD-NOS, passed
vocabulary, and comprehension of
fewer CDI items than typical controls in
phrases. Only in the case of early gesthe areas of preverbal communication,
tures were both the groups with autism
later-emerging gestures, receptive voand PDD-NOS significantly weaker
cabulary, expressive vocabulary, and
than that with DD. Several studies failed
comprehension of phrases [Luyster
to find differences between children
et al., 2007]. Both children with autism
with ASD and DD on the CSBS comand PDD-NOS had stronger receptive
posite scores [Wetherby et al., 2004;
than expressive vocabulary scores on the
Watt et al., 2008] and the Sequenced InCDI relative to this measure's normative
ventory of Communication Development
sample [Luyster et al., 2007]. From a
Revised (SICD-R) [Hedrick et al., 1984;
communication perspective, children
EUis Weismer et al., 2010].
with ASD had reduced initiation of
joint attention, behavior regulation
Some investigators raised the pos[Landa et al., 2007], gestures including
sibility that a profile of stronger
showing and pointing [Wetherby et al.,
expressive than receptive oral language
2004; Landa et al., 2007], and responperformance characterizes children with
siveness
to
communicative
bids
ASD. EUis Weismer et al. [2010] found
[Wetherby et al., 2004]. Several speech
that children with ASD had signifiand language differences in children
cantly higher expressive than receptive
with ASD included reduced directed
scores on the MSEL and SICD,
vocahzations [Ozonoff et al., 2010],
whereas the children with DD had
consonant production [Wetherby et al.,
stronger receptive than expressive
2004; Landa et al., 2007] and expressive
scores. However, this atypical pattern
vocabularies [Landa et al., 2007], and
was not observed in children with
unusual prosody [Wetherby et al.,
PDD-NOS. Moreover, it was not clear
2004]. Finally, Wetherby et al. [2004]
how often this atypical pattem was
found hmited frinctional play in children
observed in individual toddlers with
with ASD relative to typical controls.
ASD compared to those with DD. LuyASD compared with DD. Several studies ster et al. [2007] reported that toddlers
have compared the performances of chilwith autism and PDD-NOS had strondren with ASD with those with DD on
ger expressive than receptive vocabulary
formal measures of communication and
on the CDI, which was not observed
language. Results on the MSEL have
in the CDI normative sample, but no
data or statistical analyses were pre-

136

sented to determine whether the


differences in scores truly differentiated
the groups with ASD and DD.
Differences were also found
between children with ASD and DD in
gestural and other nonverbal communication [Wetherby et al., 2004; Ventola et al.,
2007; CUfford and Dissanayake, 2008].
Clifford et al. [2007] found that showing,
but not other gestures (e.g., reaching,
pointing, waving), was weaker in toddlers
with ASD compared with those with DD.
Wetherby et al. [2004] reported reduced
vocalizations with consonants in children
with ASD relative to DD. CUfford et al.
[2004] found no differences between children with ASD and DD in functional and
pretend play behaviors.
Motor
ASD compared with TD. In a retrospective analysis, Adrien et al. [1993] found
unusual postures, hypoactivity, and
hypotonia in children with ASD relative
to those with TD. Two prospective studies found that children with ASD were
significantly weaker than typical controls
in their MSEL gross and/or fine motor
scores [Landa and Garrett-Mayer, 2006;
Ozonoff et al., 2010]. Two prospective
studies involving the same sample
reported increased repetitive behaviors
relative to typical controls in children
with ASD [Wetherby et al., 2004; Watt
etal., 2008].
ASD compared with DD. Comparison
of the motor skills of children with ASD
and DD using the VABS motor scale
yielded equivocal findings at this age.
While Ventola et al. [2007] found lower
scores in children with ASD, Watt et al.
[2008] found no group differences.
Results using the MSEL were more consistent, with children with ASD showing
more severe delays than those with DD
on the Gross [Landa and Garret-Mayer,
2006] and Fine Motor subscales [Landa
and Garret-Mayer, 2006; Ventola et al.,
2007]. Wetherby et al. [2004] and Watt
et al. [2008] reported that repetitive
movements or posturing were more frequent in children with ASD than DD.
Temperament
ASD compared with TD. Few studies
investigated temperament in children
with ASD at this age. In a retrospective
study, Adrien et al. [1993] found that
children with ASD were too calm, had
atypical reactivity (i.e., either under- or
over reactive) and had unstable attention or were easily distracted relative to
ehdren with TD. Garon et al. [2009]

DEV DISABIL RES REV-MITCHELL ETAL

examined the relationship between prospective


parental
reports
of
temperament at 24 months, and 3-year
outcomes in a sample of high-dsk
infant siblings (n = 138) and low-dsk
infants (n = 73). Using discdminant
function analysis, they identified profiles
that distinguished among siblings subsequently diagnosed with ASD, nondiagnosed siblings, and low-dsk compadson infants. The first profile, which
included low positive anticipation and
high activity level, was associated specifically with ASD at 36 months. The
second, charactedzed by low positive
affect, poor regulation of negative emotions, and difficulty with attention
control disdnguished the two high-risk
sibling groups fi-om the compadson
infants. Zwaigenbaum et al. [2005] also
found reductions in positive anticipation and affective responses in children
with ASD compared with those with
TD. No studies were identified that
compared temperament in children
with ASD to those with DD at this
age.
Other behaviors
ASD

compared with

TD.

Although

sensory issues (e.g., sensory seeking


behaviors, under- or over-sensitivity to
sensory input) were commonly reported
in older children with ASD [Rogers
and Ozonoff, 2005], hmited descdption
of these behaviors was available specific
to the second year of life. Zwaigenbaum et al. [2005] reported that
toddlers with ASD demonstrated
reduced attention shifting as compared
with those \vith TD at this age.
ASD compared with DD.

Ventola et al.

[2007] found more atypical sensory


responses as reported on the CARS in
children with ASD than children with
DD. Others found repetitive movements with objects were increased in
children with ASD relative to those
with DD [Wetherby et al., 2004; Watt
et al., 2008].
Summary of Behavioral Markers at
2 Years
By age 2 years, a number of behavioral markers of ASD were evident
in the social and communication
domains (Table 1). Response to name,
expression of positive affect, and gaze
to modulate social interaction continue
to rehably distinguish ASD fiom DD.
However, reduced social sniihng, which
earlier differentiated these groups, was
less informadve by age 2, although,
quality and consistency may remain
DEV DISABIL RES REV- MITCHELL ETAL

atypical in children with ASD. Scores


on standardized measures of social
behavior at this age were consistently
lower in children with ASD than DD
(e.g., VABS, and social items from the
ADOS and CARS). Social scales within
these measures include items regarding
infants' response to name, use of gaze
to modulate social interactions, and
expression of affect. Taken together,
these three classes of social behaviors
appeared to be informative for differentiating ASD and DD at age 2.
Gestures and other aspects of
communication function continued to
show promise as markers for differendating ASD and DD. At 2 years, earlier
emerging communicative gestures such
as pointing and nodding the head,
rather than later emerging gestures such
as symbolic play, best differendated
ASD fi-om DD [Luyster et al., 2007].
Starting before and persisting beyond 2
years of age, the unique language profile of greater expressive than receptive
language abilities also distinguished toddlers with ASD from those with DD in
some studies [Ellis Weismer et al.,
2010]. Studies examining language abilides in older children with autism
found a similar, expressive greater than
receptive language profiles [e.g., Hudry
et al., 2010; Volden et al., 2011].
Therefore, this unique language profile
previously found in older children with
ASD may be important for distinguishing ASD firom DD much earlier in
development. The VABS Conimunicadon Scale also differentiated children
with ASD from DD at age 2 and older
[Thurm et al., 2007; Ventola et al.,
2007; Watt et al., 2008; Ellis Weismer
et al., 2010], whereas other standardized
measures of language and communication skills such as the MSEL [Landa and
Garrett-Mayer, 2006; Ventola et al.,
2007; Watt et al., 2008; Ellis Weismer
et al., 2010] and CSBS [Wetherby
et al., 2004; Watt et al., 2008] have not
yielded consistent differences. It is possible that the VABS Communication
scale more consistently discdminated
ASD from DD due to inclusion of
items that covered social aspects of
communication.
Studies compadng motor development in ASD and DD had varying
conclusions. Delayed acquisition of
motor milestones may not be particularly helpful in differentiating ASD
from DD in infants and toddlers
because many children with DD may
have delays in all developmental
domains, including motor. However,
given that repetidve body movements

or postudng have differentiated infants


with ASD from infants with TD by the
age of 2 p;Vetherby et al., 2004], it may
be usefijl to include specific observation
of the emergence of motor behaviors,
especially atypicalities in motor behavior, in fijture compadsons with children
with DD. Other behaviors that distinguished toddlers with ASD fiom those
with TD included atypical sensory
responses and repedtive movements
with objects.
DISCUSSION
This review of retrospecdve and
prospective studies examining the emergence of signs of ASD identified a
number of behavior markers across developmental domains that became
apparent in the first 2 years of life that
disdnguish infants with ASD fiom those
with typical development and from
those with DD (see Table 1 for a summary). There are several key social
behavioK emerging as early as the first
year of ufe that appear to distinguish
infants who later go on to receive an
ASD diagnosis fiom those \vho have
other developmental delays. When an
infant is failing to respond to his name,
showing reduced expression of affect,
stmggling to use his gaze to modulate
social interaction or not demonstradng
a social smile, the possibility of a future
ASD diagnosis and initiation of early
intervention should be considered.
These same behaviors (other than social
smiling) may also distinguish children
with ASD fiom those with DD beyond
the second year, including on standardized measures of social behavior.
Communicadon is not a domain
in which infants with ASD can be easily
distinguished from those with other
delays before 12 months, but becomes
informative starting in the second year
of life. Reduced or atypical use of gestures is particularly charactedstic of
ASD. A pattern of stronger expressive
than receptive language and weak performance on standardized measures may
also be useful for differentiadng toddlers
with ASD from those with DD by 2
years of age.
Other behavior markers in the
second year distinguishing ASD from
DD in motor, sensory and other
domains also emerged fiom this review,
including head lag and unusual object
exploration in the first year, as well as
repetitive body movements or posturing, and atypical sensory responses.
Many of these findings were from retrospective studies. Future prospective
studies aimed at disdnguishing ASD

137

from DD should incorporate measures


of atypical sensory behaviors and
responses, and visual attention (e.g.,
gaze switching, disengagement of attendon).
Similarly,
examining
the
development of actions with objects
could capture motor differences, sensory
preferences or atypical sensory and repetitive behaviors between these groups.
Although
specific
behavioral
markers may distinguish ASD from DD
at a group level, predicdng diagnosis at
an individual level may require consideration of (a) consteUations of signs
and/or (b) unique early developmental
trajectories associated with ASD in the
first 2 years of life.
Constellation of Behaviors
Although this issue has received
limited exploration to date, possible
symptom clusters crossing developmental domains as early as 12 months of age
have been described in retrospective
research. Baranek [1999] indicated that
the consteUation of behaviors that best
discriminated infants with autism from
those with DD and TD included
decreased response to name, reduced
orientation to visual stimuh, increased
mouthing of objects, and social touch
aversion. Osterhng et al. [2002] identified three items that best differentiated
infants with ASD from those with DD
and TD: orienting to name, looking at
objects held by others, and looking at
people, the first two of which overlap
considerably with Baranek's [1999] predictors. While limited by sample size,
findings across these two studies provided support for the notion that
consteUations of symptoms might prove
informative toward discriminating autism from DD, even as early as the fint
year of hfe.
Distinctive symptom clusters were
also described for the second year.
Wetherby et al. [2004] described a cluster of social and communication
behaviors that rehably distinguished
ASD from DD and TD in shghdy older
infants. By 21 months of age lack of
appropriate gaze; lack of warm joyful
expressions with gaze; lack of sharing
enjoyment or interest; lack of response
to name; lack of coordination of gaze,
facial expression, gesture, and sound;
lack of showing; unusual prosody; repetitive movements of the body; and
repetitive movements with objects differentiated infants with ASD from DD
and TD. Similarly, Ventola et al. [2007]
found that a combination of deficits in
joint attention (i.e., showing, pointing
to comment, foUowing a point), social

138

relatedness (i.e., relating to people,


response to name), and communication
(i.e., nonverbal communication, pointing to request) best differentiated
toddlers with ASD from those with DD.
As well, Clifford et al. [2007] found that
a consteUation of behaviors including
reduced peer interest, positive affect,
quahty of eye contact, and response to
name correctly classified 91% of the children with ASD in their sample.
However, without further rephcation
within other high- and low-risk prospective cohorts, it is difficult to know
whether these findings wiU generalize to
community settings. Moreover, whue
there may be robust risk markers of ASD
in the first 2 years of hfe, this does not
imply that definitive diagnosis can consistently be made at such an early age.
To date, there has only been one study
of diagnostic stabihty in children
younger than age 2 years [Chawarska
etal., 2007].
Understanding that infants with
ASD may present with a consteUadon of
behavioral signs across developmental
domains has clinical imphcations in
terms of assessment and intervention.
We can begin to distinguish infants with
ASD from those with DD by the presence of deficits in social behaviors such
as response to name, expression of affect,
and using gaze to modulate social interactions, which emerge by 12 months of
age, and deficits in communication, particularly the use of communicative
gestures, which emerge by 18 months of
age. Early deficits in person-person
interactions may undermine later person-object-person interactions, and thus
contribute to a cascade of later deficits in
infants at risk for ASD [Chfford and Dissanayake, 2008]. Intervendon for these
infants aimed at establishing these social
and communication behaviors in dyadic
interactions may provide a more solid
footing for leaming to use these skills in
triadic social interactions, thus preventing
a
dechning
trajectory
of
development.
Trajectories
A number of studies examining
emerging behavior in ASD and DD
evaluated how these behaviors change
over time. Infants with ASD and DD
appear to achieve developmental milestones (e.g., language) at a slower rate
than typically developing infants. However, infants with ASD may show a
pattem of reduced rate of development
or plateauing that is disdnct from that
observed in DD. Landa and GarrettMayer [2006] revealed a longitudinal

pattem of findings suggesting a slowing


and/or worsening developmental trajectory specific to children with ASD
between 14 and 24 months. Behaviors
that are acquired early in development,
particularly social behaviors (e.g., using
gaze to modulate social interactions,
expression of affect), appear to remain
stable over time for infants with DD.
Conversely, infants with ASD, although
not significandy different from infants
with TD or DD at 6 months, demonstrated dechning trajectories with
respect to social behavion between the
first and second year of hfe [Ozonoff
et al., 2010].
Understanding the individual developmental trajectories of infants has
chnical imphcations in temis of assessment and intervention. The fact that
infants with DD appear to show
improving trajectories across developmental domains, albeit at a slower rate
than infants with TD, suggests that these
infants may be able to acquire skills
though increased opportunities during
participation in social activities. By contrast, infants with ASD who appear to
have flat or dechning trajectories, particularly in the social and communication
domains, may not be able to leam these
skills simply with increased opportunities, indicating a need for impairmentspecific intervention.
Few studies have examined heterogeneity in early development within
ASD cohorts, in part because sample
sizes in both retrospective and prospective studies have tended to be very
small. Landa et al. [2007] reported differences in symptom profiles at 14 and
24 months in "early" and "later" diagnosed children, finding that the former
group presented with marked deficits in
affect sharing and joint attention behaviors at 14 months, whereas such
symptoms did not emerge undl 24
months in the latter group.
Summary and Moving Forward
Specific profiles of candidate
markers in the social realm by 12
months and in the communication
realm by 18 months, along with additional atypical motor behaviors, may
alert chnicians that infants may have
ASD rather than a Global Developmental Delay. This consteUation of features
coupled with a flat or declining trajectory in specific aspects of social and
communication development, may assist
chnicians in initiating early intervention
that is impairment-specific for infants
with ASD. For infants who are highrisk (e.g., sibhngs of children with
DEV DISABIL RES REV- MITCHELL ETAL.

autism, those with genetic syndromes


associated with ASD, and infants who
fail community screening), it is worthwhile to initiate early intervention at
the first sign of this social and communication deficit pattem to minimize
cascading deficits, even where ASD diagnosis is not yet certain.
While additional research is
needed to guide the differential diagnosis
of ASD and DD early in life, there have
been considerable advances in recognition of signs and developmental pattems
specific to the two groups. Further
advances through prospective research
designs, and potential incorporation of
biological markers (e.g., neurophysiology, genetics) [Walsh et al., 2011], may
further refine strategies aimed at identifying infants showing early signs of ASD,
but also raise important clinical and ethical issues about risk communication.
Ultimately, concerns associated \vith
uncertainty about ultimate diagnostic
outcome may be tempered by opportunities to offer interventions targeted to
functional impairments that can be
reliably ascertained at an early age [Zwaigenbaum et al., 2009]. It is important to
support parents throughout the process,
acknowledging uncertainty where it
exists, but also emphasizing that identifying early signs is just the first step towards
better understanding a child's developmental needs and initiating supports and
interventions aimed at improving function and outcomes.
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