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Autism Spectrum Disorder: Defining Dimensions and Subgroups

Article  in  Current Developmental Disorders Reports · March 2014

DOI: 10.1007/s40474-013-0003-1

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Curr Dev Disord Rep (2014) 1:20–28
DOI 10.1007/s40474-013-0003-1

AUTISM SPECTRUM (C DISSANAYAKE, SECTION EDITOR)

Autism Spectrum Disorder: Defining

Dimensions and Subgroups
Opal Ousley & Tracy Cermak

Published online: 20 December 2013

# Springer International Publishing AG 2013

Abstract Autism spectrum disorder (ASD) is a behaviorally researchers, and to achieving a full understanding of individ-
defined neurodevelopmental disorder associated with the uals with this diagnosis. Recent research, particularly in the
presence of social-communication deficits and restricted and biological sciences, has brought attention to the limitations of
repetitive behaviors. In the latest conceptualization of ASD, the categorical approach to defining ASD, and promotes the
these two behavioral dimensions represent the core defining use of dimensional assessments to examine the core and asso-
features of ASD, whereas associated dimensions, such as ciated features of ASD, an approach adopted in the fifth edition
intellectual and language ability, provide a means for describ- of the Diagnostic and Statistical Manual of Mental Disorders
ing the ASD heterogeneity. In addition, the characterization of (DSM-5) [3, 4]. Despite this new focus on dimensional assess-
ASD subgroups, defined by the presence of known medical, ment, the identification of subgroups, based on the presence of
genetic, or other psychiatric disorders, furthers our under- co-occurring psychiatric, medical, and/or genetic risk condi-
standing of ASD heterogeneity. This paper reviews the history tions, continues to be of importance to research and clinical
of autism, describes its core defining features, and provides an practice. This review provides an overview of the history of
overview of the clinically and etiologically relevant subgroups autism diagnosis (Table 1) and describes both the dimensional
that add to the complexity of this condition. and categorical approaches to characterizing ASD as outlined
in the new DSM-5 (Fig. 1).
Keywords Autism . Autism spectrum disorder . DSM-5 .
ICD-11 . ADHD . Anxiety . Depression . Disruptive
behavior . Catatonia . Kanner . Asperger . Pervasive Identification and Classification of Autism
developmental disorder . Dimension . Subtype . Specifier
The earliest publications on autism described the atypical
quality of social interactions between child and adult, docu-
Introduction mented the presence of repetitive object use and insistence on
sameness, and distinguished between the categorical diagno-
Consideration of autism as a spectrum disorder can be traced ses of autism and childhood-onset schizophrenia. In the influ-
back to the careful and detailed clinical observations by Kanner ential article entitled “Autistic disturbances of affective con-
and Asperger, who described children with a broad range of tact,” Dr. Leo Kanner published a series of case studies
atypical behaviors and intellectual abilities [1, 2]. Understand- describing eight boys and three girls between the ages of 2
ing and describing this heterogeneity in autism spectrum dis- and 11 years who were exhibiting a similar cluster of symp-
order (ASD) is critical to the work of both clinicians and toms [1]. He described the children's preference for using
objects repetitively in lieu of socially interacting with others
O. Ousley (*) and wrote, “the outstanding, ‘pathognomonic’ fundamental
Emory Autism Center, Department of Psychiatry and Behavioral
disorder is the children’s inability to relate themselves in the
Sciences, Emory University School of Medicine, 1551 Shoup Court,
Atlanta, GA 30322, USA ordinary way to people and situations from the beginning of
e-mail: oousley@emory.edu life.” He noted numerous commonalities across these chil-
dren, including an atypical “relation to people,” language
T. Cermak
consisting mainly of naming objects, literalness, delayed
Marcus Autism Center, Children’s Healthcare of Atlanta, 1920
Briarcliff Road, Atlanta, GA 30329, USA echolalia, excellent rote memory, repeating phrases with per-
e-mail: tracy.cermak@choa.org sonal pronouns in the exact way heard, early concern about
Curr Dev Disord Rep (2014) 1:20–28 21

Table 1 Diagnostic labels for autism spectrum disorder: a comparison of DSM and ICD diagnoses and subtypes

DSM Diagnoses and subtypes Edition ICD Diagnoses and subtypes Edition

Schizophrenia DSM-II, Schizophrenia ICD-8, 19672

Childhood type 19681 Infantile autism
Pervasive developmental disorder DSM-III, Psychoses with origin specific to childhood ICD-9, 19773
Infantile autism 1980 Infantile autism
Childhood onset pervasive developmental Disintegrative psychosis
disorders Other
Unspecified
Pervasive developmental disorder DSM-III-R, Psychoses with origin specific to childhood ICD-9, 19773
Autistic disorder 1987 Infantile autism
Pervasive developmental disorder-not Disintegrative psychosis
otherwise specified Other
Unspecified
Pervasive developmental disorder DSM-IV, Pervasive developmental disorders ICD-10, 19934
Autistic disorder 1994 Childhood autism
Asperger’s disorder Asperger’s syndrome
Pervasive developmental disorder-not Atypical autism
otherwise specified Other pervasive developmental disorders
Pervasive developmental disorder, unspecified
Childhood disintegrative disorder Other childhood disintegrative disorder
Rett’s disorder Rett’s syndrome
Overactive disorder with mental retardation and
stereotyped movements
Autism spectrum disorder DSM-5, 2013 Autism spectrum disorder (proposed) ICD-10, Beta draft,
20135

Notes: 1. Described by Rapoport 2009, 2. Described by Leekman et al., 2002, 3. Information obtained online at ftp://ftp.cdc.gov/pub/Health_Statistics/
NCHS/Publications/ICD-9/ucod.txt, 4. Information obtained online at http://www.who.int/classifications/icd/en/GRNBOOK.pdf, 5. Information
obtained online at http://apps.who.int/classifications/icd11/browse/f/en

hearing impairment, strong reactions to noises and moving of Mental Disorders, Second Edition (DSM-II), published
objects, “monotonous repetition” of noises, motions, and ver- around the same time, specified “schizophrenia, childhood
bal utterances, and “limitations in the variety of spontaneous type” without any reference to autism [6, 7]. In 1977, the
activity.” Furthermore, and critical to psychiatric practice at ICD-9 specified “infantile autism,” “disintegrative psychosis,”
the time of writing, Dr. Kanner distinguished between child- “other,” and “unspecified” under the grouping “psychoses with
hood schizophrenia and the cluster of autism symptoms he origin specific to childhood” [7]. Thereafter, the DSM-III sub-
had observed. Similarly, in 1944, Dr. Hans Asperger provided types “infantile autism” and “childhood onset pervasive devel-
descriptions of a case series of children, primarily boys, em- opmental disorders” were incorporated under the diagnostic
phasizing the presence of social impairments and withdrawal, category of “pervasive developmental disorder” [8]. Additions
eccentric behavior, emotional impairments, ritualized and ste- to the DSM-III-R included similar subtype entries with slightly
reotyped behavior, learning and attentional problems, as well modified wording, “autistic disorder” and “pervasive develop-
as giftedness, and suggested that these symptoms represented mental disorder – not otherwise specified (PDD-NOS),” but
a personality disorder which merged into the ‘normal’ contin- changes were not made to the ICD [9]. By the early 1990’s, the
uum [2, 5]. DSM-IV saw the addition of three subtypes: “Asperger’s dis-
The observations by Drs. Kanner and Asperger remain order,” “childhood disintegrative disorder,” and “Rett’s disor-
relevant today and have shaped the current definition of autism. der,” which mirrored the most recent modifications to the ICD-
Despite these well-documented case studies, which were pub- 10 [10, 11].
lished in the early 1940’s, the American Psychiatric Associa- In the newly published DSM-5, the overarching term,
tion (APA) and the World Health Organization (WHO) did not “pervasive developmental disorder” is replaced by “autism
immediately recognize autism as a distinct diagnostic category. spectrum disorder,” which is the designation also proposed
As shown in Table 1, in 1967, the International Classification for the ICD-11 [4, 12]. This term represents the idea that the
of Diseases, Eighth Revision (ICD-8) mentioned autism for the core features of ASD can be measured dimensionally and that
first time, listing “infantile autism” under the schizophrenia they fall along a continuum of severity [13, 14]. No diagnostic
grouping, whereas the APA Diagnostic and Statistical Manual subtypes (e.g., Asperger’s disorder and PDD-NOS) are listed;
22 Curr Dev Disord Rep (2014) 1:20–28

Fig. 1 DSM-5 ASD diagnostic criteria and specifiers

instead, specifiers are provided to indicate the presence of autism [18]. Additional assessments were developed to
intellectual and/or language impairment as well as the severity standardize the methods for assessing parent- and
level of the core ASD symptoms. Further, any known genetic teacher-reported symptoms and clinical observation and
or medical disorders are recorded and other co-occurring to determine the presence of an ASD as well as the
neurodevelopmental, mental, or behavioral disorders are indi- severity of ASD symptoms [19–22]. Although the first
cated [4]. instruments focused on the assessment of children, ASD
Preliminary research studies comparing the DSM-IV and assessments have progressively focused on measuring
DSM-5 classifications have demonstrated that most individ- symptoms across the lifespan, including infancy and
uals diagnosed with DSM-IV autistic disorder, Asperger’s adulthood [23–25]. Researchers have also turned their
disorder, or PDD-NOS also meet DSM-5 criteria for autism attention toward examining the distribution of ASD-
spectrum disorder; however, some studies have found that the related traits in the population as a whole [26] and using
DSM-V criteria poorly identified higher-functioning individ- ASD assessments to examine the broader autism pheno-
uals [14–16]. These mixed results suggest that further research type [27–30].
is required to determine if modifications to the new criteria The view that core ASD symptoms fall along a continuum
will be needed in subsequent revisions of the DSM-5. or spectrum existed prior to the DSM-IV [7]. Current research
supports this view and suggests that Asperger’s syndrome and
PDD-NOS overlap with “high-functioning autism,” that these
Objective Measurement of Autism Symptoms subgroups are not identified reliably across clinicians, and that
the outcomes for PDD-NOS and autism are indistinguishable
In the 1960’s and 1970’s, researchers sought to develop [7, 31, 32]. In addition, longitudinal studies have shown that
objective measures of the core ASD symptoms, resulting PDD-NOS represents a mixed diagnostic group, is not a stable
in the development of rating scales used to aid in the diagnosis, and often represents individuals with social-
identification of ASD [17]. One of the primary measures communication deficits in the absence of repetitive behaviors
to emerge included the Childhood Autism Rating Scales or activities [33, 34]. Further examination of subgroups comes
(CARS), which assessed 15 autism-related symptoms from studies seeking to identify empirically defined sub-
based on observation and/or caregiver report. In addition, groups. Factor analysis of core ASD symptoms commonly
the CARS yielded an overall ASD severity score and a yields one, two, or three factors that represent social deficits,
cutoff score used to determine the presence or absence of communication deficits, and/or the presence of repetitive
Curr Dev Disord Rep (2014) 1:20–28 23

behaviors [35–38]. For the DSM-5, two core factors or di- abilities [56] and which provide another means of classifica-
mensions are stipulated, one representing impairment in re- tion. For example, hyperlexia, or the ability to decode words,
ciprocal social communication and social interaction, and the emerges at a very young age in some children with ASD in the
other representing restricted, repetitive patterns of behaviors, absence of teaching or instruction [57]. Other peak skills may
interests, or activities [4]. Factor analysis and cluster analysis include those that rely on enhanced perception, including mu-
techniques also reveal the importance of emotional and be- sical talent and strengths in visual-spatial processing and rote
havioral regulation or other regulatory processes (e.g., sleep memory [58]. Examining subgroups of individuals with partic-
and feeding) in describing the heterogeneity of ASD [39–41]. ular peak skills may lead to hypotheses or insights regarding
Consideration of such factors supports the identification of the nature of ASD-related information processing abilities and
subgroups with varying symptom profiles but does not pro- their underlying neurobiological processes [56, 59].
vide precise empirical support for the DSM-IV and earlier
subgroup classifications [37, 42].
Subtyping ASD According to Genetic and Medical
Conditions
Subtyping ASD According to Cognitive and Language
Abilities ASD arises from a multitude of causes and can be
grouped according to etiological subtypes. Investigations
In the DSM-5, in addition to the evaluating two core ASD into the genetics of ASD have shown that up to 20 % or
domains, the characterization of ASD involves specifying more of individuals have been identified as having a
whether or not intellectual and language impairments are genetic or genomic disorder and that over 100 known
present. A majority of individuals with ASD have mild to associations exist, which also overlap with known causes
moderate intellectual disabilities, with accompanying lan- of intellectual disability [60••]. One of the most common
guage impairment; however, much variability is observed genetic disorders associated with autism is fragile X,
across individuals. In many cases, individuals with ASD although various other single-gene mutations, rare copy
show a characteristic discrepancy between verbal and number variants, and even the combined effects of com-
nonverbal IQ rather than a global impairment across all mon genetic variants are also associated with ASD [60••,
areas of cognition [43–47]. A pattern of stronger nonver- 61]. These genetic abnormalities or variations do not
bal reasoning, relative to verbal reasoning, occurs in some always result in ASD, and instead can be associated with
individuals with ASD and is often considered to represent other neurodevelopmental disorders, including intellectual
the prototypical autism presentation. In comparison, an- disability without ASD, social and peer-related difficulties
other distinct cognitive profile is characterized by average that do not reach the level of ASD, and, in some in-
or above IQ and language abilities, in the absence of an stances, anxiety, depression, or psychotic symptoms [62,
early language delay, and associates with Asperger’s syn- 63]. Given this variability in phenotypic outcomes, which
drome [48]. A third cognitive profile is characterized by a can result from the same genetic or chromosomal abnor-
relative weakness in nonverbal and/or spatial reasoning mality, scientists have suggested that environmental fac-
skills as compared to verbal reasoning skills. This cogni- tors (e.g., exposure to toxicants, malnutrition, and the in-
tive profile often associates with nonverbal learning dis- utero environment) may moderate the risk for ASD [64,
ability profile that involves relative weaknesses in math- 65]. Further, some researchers have suggested that the
ematics achievement and face processing, and may occur phenotypic “outcome” of gene disorders should be inves-
in individuals with autism or Asperger’s syndrome [49]. tigated at the level of the brain [66] and that ASD neuro-
Moreover, some individuals with ASD score within the logic subgroups should be the primary focus of study [67,
gifted or superior range on tests of verbal IQ, nonverbal 68].
IQ, and/or math and reading achievement [50]. Although ASD may also be grouped according to the presence of
initial research findings insinuated that these distinct cog- peripheral pathophysiology that impacts gastrointestinal or
nitive profiles might lend themselves toward ASD immune functioning. The presence of gastrointestinal and
subtyping and distinguishing between Asperger’s syn- feeding disorders in ASD has been recognized since Dr.
drome and high-functioning autism, the majority of the Kanner's early descriptions, which documented feeding diffi-
evidence does not support such a distinction and, instead, culties, severe vomiting, and, in one child, the need for tube
supports the idea that language and cognitive abilities or feeding [1]. The study of gastrointestinal disorders represents
impairments in ASD are best represented along a contin- a novel area of inquiry, along with investigations of sleep,
uum [47, 51–55]. obesity, and immune function [69, 70, 71•], and has begun to
Individuals with ASD can also exhibit peak cognitive skills provide insights into the pathophysiology of well-defined
which represent strengths above and beyond their other ASD medical/genetic subgroups [72, 73].
24 Curr Dev Disord Rep (2014) 1:20–28

Further Subtyping ASD Based on Co-occurring Depression and Catatonia Individuals with ASD experience
Symptoms of ADHD, Disruptive Behaviors, Anxiety, major depression and may be particularly at risk when a strong
and Depression family history of depression exists. The prevalence of depres-
sion in ASD is unknown, however, due to the lack of reliable
Difficulties with attentional and emotional regulation are com- and valid assessments that might distinguish core ASD symp-
monly observed in individuals with ASD, leading to the toms from those related to depression [100, 101]. This diag-
identification of subgroups with co-occurring psychiatric nosis in ASD is further complicated given that symptoms of
symptoms or disorders [74–77]. Although the DSM-IV spec- depression may vary with cognitive and language ability
ified that an ASD diagnosis occurred apart from other levels, that personal insight may limit the usefulness of self-
childhood-onset disorders such as attention-deficit hyperac- report, and that environmental factors such as low levels of
tivity disorder (ADHD) and social anxiety disorder, system- environmental enrichment or an absence of social support
atic studies have shown that co-occurring symptoms or con- may contribute to the overall presentation [102]. Case studies
ditions are observed in individuals with ASD and are often the of individuals with ASD documenting response to treatment
primary focus of clinical care [78–80]. of depression and examination of suicidal behavior provide
strong evidence that depression and ASD co-occur and that
ADHD and Disruptive Behaviors Using standardized as- the identification of depressive subgroups within ASD is of
sessments, researchers have found that one-third or more paramount importance [103, 104]. Individuals with ASD may
of individuals with ASD also meet criteria for formal also present with catatonia. The origins of this condition in
ADHD diagnosis, and that the most common ADHD ASD are unknown, and there is no clear evidence that it is
subtypes are the predominantly inattentive type and the associated with mood or psychotic symptoms [105]. Catato-
combined type [80, 81]. Additionally, disruptive behav- nia, therefore, is listed as a specifier in the DSM-5 and is
iors frequently manifest themselves in individuals with considered a “primary” disorder rather than a symptom of a
ASD. Recent investigations have found that up to sixty mood or psychotic disorder [106].
percent of adults with ASD and an intellectual disability
present with difficult-to-manage behaviors, including self-
injurious, disruptive, and destructive behaviors. [82]. In
addition, a significant number of very young children Treatment Research and ASD Subtypes
present with difficult-to-manage behaviors, whereas op-
positional and defiant behaviors can occur in children and Our desire to identify ASD subgroups stems not only from
adolescents [83–86]. Additional clinically relevant sub- the need to understand etiology and cause, but also the need
groups are comprised of individuals who exhibit behav- to develop a personalized medicine approach to treating
iors that pose a serious safety risk, including elopement, core and associated symptoms of ASD [107–109]. In treat-
pica, and self-injury [87–90]. ment research, the need to study well-characterized and
specifically chosen subgroups in order to increase statistical
Anxiety Anxiety symptoms also frequently co-occur in ASD power and to allow testing of specific hypotheses has led to
and are one of the top treatment concerns of parents and the recommendation that treatment subgroups be chosen to
clinicians [91]. Parents report a high level of anxiety symp- maximize homogeneity in ways that best illuminate treat-
toms experienced in relation to their child’s inability to accept ment efficacy [109]. Based on these ideas, model treatment
changes in daily routines, to transition from one activity to approaches are often developed first on a specific subgroup,
another, to accept redirection away from perseverative behav- and follow-up research studies are conducted to determine
iors, or to tolerate environmental stimuli such as particular the generalizability of these treatments to new samples or
sounds [92, 93]. Parents also report the presence of anxiety settings. Thus far, research shows that well-designed be-
symptoms that seem unrelated to core ASD symptoms, in- havioral, educational, and pharmacologic interventions can
cluding specific fears, social phobia, and obsessive- result in significant improvements in the social and behav-
compulsive behaviors [94]. Despite emerging evidence that ioral functioning of individuals with ASD, although out-
an anxious subgroup exists within ASD, diagnostic uncertain- comes do vary substantially.
ty stems from the lack of validation of traditional measures of In early infancy treatment research, at-risk siblings are the
anxiety in the ASD population and the concern that core ASD most commonly studied subgroup, with an eye towards iden-
symptoms are indistinguishable from anxiety symptoms tifying early signs of risk and providing the earliest possible
[95–98]. Nevertheless, the preponderance of evidence sug- intervention. Treatment for these at-risk infants often follows
gests that anxiety disorders co-occur in a substantial propor- an infant mental health model, but the outcomes of such
tion of individuals with ASD and represent a clinically rele- treatments are not yet known [110]. For toddlers and pre-
vant subgroup [99]. schoolers, eligibility for treatment research may not be
Curr Dev Disord Rep (2014) 1:20–28 25

restricted to particular subgroups, as developmental profiles the use of standardized assessments to achieve such charac-
and ASD severity may change rapidly with treatment and terization will lead us toward the ultimate goal of developing
parent factors may be equally important as child factors in personalized care pathways that will be informed by advances
predicting outcomes at this age [111–114]. in cognitive, behavioral, and medical science.
Treatment research that targets difficult-to-manage repeti-
tive behaviors or co-occurring behaviors such as externalizing
or internalizing psychological problems may require the pres- Compliance with Ethics Guidelines
ence of minimum levels of the targeted clinical issues [115].
Conflict of Interest Opal Ousley and Tracy Cermak declare that they
Thus, by design, these studies are targeting clinically defined have no conflict of interest.
subgroups. Some treatment approaches may be applied re-
gardless of age or cognitive level (e.g., applied behavior Human and Animal Rights and Informed Consent This article does
analysis and pharmacological interventions), whereas treat- not contain any studies with human or animal subjects performed by any
ments targeting the development of self-regulatory or social of the authors.
skills may have minimum cognitive or language level require-
ments [116–118]. With regard to the educational setting, cog-
nitive ability and/or level of academic achievement, as well as
severity of externalizing behavioral symptoms, may guide References
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