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Autism Spectrum Disorders

Giacomo Vivanti, School of Psychological Science, Olga Tennison Autism Research Centre, La Trobe University, Melbourne,
VIC, Australia
Erica Salomone, Kings College London, Institute of Psychiatry, London, UK
2015 Elsevier Ltd. All rights reserved.

Abstract
Autism spectrum disorders are a family of conditions characterized by early emerging disruptions in social communication
and restricted/repetitive behaviors. We will review recent research and current understanding on the evolution of the concept
of autism, its clinical characteristics, its causes, as well as issues in clinical management, policy, and intervention. Given the
relevance of autism for a scientic and cultural understanding of normative and atypical development of social behavior,
research in autism has the potential to crucially inform knowledge in medical, biological, social, and behavioral sciences.

Evolution of the Concept of Autism (from Kanner


to the DSM 5)
Autism is the diagnostic concept originally formulated by
Leo Kanner (1943) to dene a clinical syndrome characterized
by early emerging social communication abnormalities and
behavioral rigidity. Kanners concept has proven inuential and
enduring, and interest in the nature and implications of this
condition has grown exponentially over time. In the past
decade, autism and related conditions have attracted increasing
attention from a variety of different disciplines, including
molecular biology, neuroscience, cognitive science, developmental psychology, pedagogy, psychiatry, philosophy of mind,
linguistics, articial intelligence, and anthropology.
Kanners original description of 11 children affected by
autistic disturbances of affective contact emphasized a reduced
or completely lacking interest in other people and a striking
insistence on sameness as the hallmarks of this condition. The
validity of autism as a specic diagnostic concept has been
supported in the following decades by various lines of research.
In particular, studies documenting the early emergence of
social disturbances, the presence of decits affecting both
language and nonverbal communication, and the discrepancy
between social and nonsocial abilities in affected children
pointed to a distinction between autism and other diagnostic
concepts such as schizophrenia, language disorders, and intellectual disability (ID). Over the decades following Kanners
original report, the different denitions used to classify and
diagnose autism have continued to be based on these two
notions: impairments in social reciprocity and communication
and insistence on sameness/resistance to change. The robustness of these diagnostic indicators is reected in a report of the
National Institutes of Health autism working group, written
ve decades after Kanners description, which states that the
clinical diagnosis of autism is one of the most reliable diagnoses in psychiatric or developmental research (Bristol et al.,
1996). Despite the continuity between Kanners original
description and current denitions, the concept of autism has
evolved over time as a consequence of cultural changes and
research advances.
The most recent edition of the Diagnostic and Statistical
Manual of Mental Disorders (DSM-5), published by the
American Psychiatric Association (2013), denes autism as

International Encyclopedia of the Social & Behavioral Sciences, 2nd edition, Volume 2

a spectrum disorder, rather than a single entity, with diagnostic criteria grouped in two categories: social communication decits and xated interests and repetitive behaviors. The
notion of autistic spectrum reects the homogeneity in the
core impairments, as well as the continuum of variability in
the clinical presentation of these decits. The current denition
of autism as a spectrum represents a signicant departure from
previous approaches, which conceptualized autism and related
conditions as a discrete number of mutually exclusive diagnostic categories. The International Classication of Diseases
(ICD 10), published by the World Health Organization, is
likely to incorporate these changes in the next edition. The
concept of Aspergers disorder, previously in use to dene
a subtype of autism (DSM-IV), has become part of the
mainstream vocabulary and is still culturally associated to
autism, but is no longer relevant to diagnostic purposes. The
terms autism and autism spectrum disorder (ASD) are now
considered interchangeable.

Epidemiology
While the rst studies in the 1960s indicated a prevalence of
45 in 10 000 for autistic disorder (as conceptualized in
DSM-IV-TR), a recent review of epidemiological surveys conducted worldwide found a median prevalence of 19 in 10 000
for autistic disorder, which becomes 62 in 10 000 considering
related conditions (Elsabbagh et al., 2012) with close correspondence in the estimates derived from North American and
Northern European studies. Although the progressive rise in the
prevalence in the last decades is irrefutable, the changes in the
diagnostic criteria and the different methods used for case
ascertainment inuence the interpretation of the studies and do
not allow to conclude that there is a correspondent increase in
the incidence (or number of new cases per year) of the disorder.
The factors presumably responsible for the increased prevalence include the progressive broadening of the diagnostic
criteria (shown, for example, by a reexamination of the clinical
records of a survey conducted in the 1980s using the case
denition of DSM-IV-TR, Miller et al., 2013), the improved
efcacy in the diagnostic procedures, and the increased
awareness in health professionals as well as the changes in
policies for access to services. In the United States, there is

http://dx.doi.org/10.1016/B978-0-08-097086-8.23230-3

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Autism Spectrum Disorders

evidence of ethnic and racial disparities in the identication of


ASD (Mandell et al., 2009). The sex ratio (male:female) is 4.3:1,
but there is suggestion that females are more likely to remain
undiagnosed (Giarelli et al., 2010). Research on gender
differences in the clinical phenotypes has mixed evidence,
partly due to the fact that few female participants have been
involved in research studies.

Clinical Features
Despite its biological roots, research has not identied yet
a biological marker distinguishing ASD from other conditions.
As a consequence, ASD can be diagnosed solely on the basis of
behavioral manifestations. Moreover, autism is a developmental disorder; therefore, the presentations of symptoms are
affected by and affect the developmental level of the individual
(verbal ability and mental age), and the chronological age of
the subjects inuences the way in which these symptoms
manifest themselves.

Social Communication and Social Interaction


Impairments in social communication and social interaction
are a dening feature of autism (Carter et al., 2005); nonetheless, the presentation of symptoms in this area varies
considerably across the life span. In infancy and early childhood, eye contact is often poor and the direct gaze may not
indicate social contact with the carer. The ability to follow an
adults gaze or pointing is impaired and, while the awareness of
other environmental sounds is intact, the response to human
voices (for example, when the childs name is called) is delayed
or lacking. Behaviors aimed at directing or maintaining the
carers attention to what the child is interested in such as
vocalizing, pointing to request or express interest, bringing
objects to show them occur with lower than expected
frequency or are totally absent. When present, nonverbal
communication (eye contact, gestures, facial expressions, body
language) is poorly integrated with verbal or vocal communication. Social smiling may be lacking or occur only in response
to prompts, and the behavioral cues that indicate the toddlers
desire to show his/her enjoyment to the adult during joint
activities may be very limited or absent. Turn-taking in the
communicative exchanges with the carer in early infancy and
the typical back-and-forth conversation after the emergence of
language are impaired. Social play is very limited with failure to
initiate or respond to social routines with an adult (such as
peekaboo, patty-cake). Pretend and imaginative play, when
present, may lack spontaneity or exibility and are not shared
with adults or peers. Relationships with peers may range from
fewer attempts to approach other children to no interest at all
and limited response or avoidance of their approaches.
Response to others emotions may be very limited or occur only
in the presence of exaggerated expressions (e.g., adult pretending to cry). Delay or lack of development of spoken
language may occur but is not a discriminating feature;
however, it is highly indicative of ASD if not accompanied by
attempts to compensate through the use of gestures. Abnormal
speech patterns, odd words or phrases, echolalia, and unusual
tone or pitch in vocalizations or words are other distinctive

characteristics of early language in ASD and may persist


throughout the life span. The use of communicative speech
increases from childhood to adolescence and adulthood, but
many aspects of communication, particularly the social
components (such as pragmatics or prosody), are likely to
remain impaired. Decits in developing, maintaining, and
understanding relationships (such as friendship) become more
apparent in middle childhood, as the social demands increase.
In adolescence and adulthood, for example, social interactions
may increase in frequency but retain a qualitative impairment
(stilted, exaggerated, or socially awkward behavior).

Restricted, Repetitive Patterns of Behavior, Interests,


or Activities
Repetitive and restricted behaviors (RRBs) are a heterogeneous
group of symptoms that can emerge in infancy and persist
throughout the life span; however, their manifestation may
change with age. These behaviors are not a distinctive feature of
ASD as similar phenomena are often observed in IDs, psychiatric disorders, neurological conditions and other clinical
conditions with sensory decits as well as in typically developing toddlers; however, ASD is usually characterized by
a pattern of co-occurring behaviors. These symptoms include
behaviors characterized by stereotyped or repetitive movements (such as motor stereotypies, repetitive use of objects) or
repetitive use of speech (echolalia, idiosyncratic phrases) and
restricted, xated interests unusual in their intensity or focus
(such as strong attachments to unusual objects, circumscribed
or perseverative interests). The insistence on the sameness
(such as the need to eat the same food everyday) and adherence
to routines or rituals is another characteristic of ASD, often
associated to high distress for the affected individual and
impairment in everyday functioning. Seeking of specic
sensations and unusual sensory interests (such as peering or
smelling of objects) have been included in the DSM-5, together
with hyper- or hyporeactivity to sensory inputs as important
clinical descriptors of ASD. Within the autistic population,
there is huge variability in the prevalence and severity of each of
these types of behaviors. Behaviors like repetitive use of objects
(spinning the wheels of a toy car) or motor stereotypies such as
nger icking or hand apping are more likely to occur in
children with ASD and ID than in children with ASD only,
whereas circumscribed interests are more prevalent in higherfunctioning individuals (Bishop et al., 2006). There is
growing evidence that all kinds of RRBs decrease in frequency
and severity with age, independently of co-occurring ID, with
the exception of stereotyped movements that tend to be more
persistent in individuals with ID (Esbensen et al., 2009).

Co-occurring Conditions
Once thought to be occurring in most cases of ASD, ID is now
ascertained in approximately 50% of children diagnosed with
ASD (CDC, 2012). In subjects with ASD, comorbidity with
several psychiatric conditions (including anxiety, depression,
hyperactivity and attention difculties, oppositional deant
disorder, tics, and epilepsy) is increased compared to rates in
the general population (Simonoff et al., 2013). The presence of
mental health problems needs to be carefully assessed to

Autism Spectrum Disorders

ensure appropriate support; however, the nature of the association between psychiatric conditions and ASD is still
unknown.

Causes of Autism
There is incontrovertible evidence that genetic factors are the
predominant cause of ASDs. Twin studies and family studies
have documented that siblings of children with ASD have a 20to 50-fold increased risk of having ASD compared to the
general population, and the concordance rate in identical twins
(who have 100% of genes in common) is up to 90% (Rutter,
2000). There is also evidence for a remarkable genetic heterogeneity in the etiology of ASD. A number of potential risk genes
have been identied; however, none of them accounts for more
than 1% ASD cases, and the combination of known genetic risk
factors accounts for approximately 10% of ASD (Geschwind,
2006); in the remaining 90% of the cases, ASD etiology is
unknown. It is currently estimated that many hundreds of
genes might contribute to the risk of developing ASD. While
genetic ndings indicate that ASD is one of the most heritable
neuropsychiatric disorders, the lack of complete concordance
in identical twins indicates that nongenetic factors contribute
to ASD as well. Several environmental factors have been found
to be associated with increased risk of developing ASD,
including prenatal exposure to rubella, thalidomide (a chemical compound that used to be prescribed to treat nausea and
vomiting), and valproic acid. Recent research pointed to
a possible association between ASD and exposure to chemicals
in the environment (e.g., pesticides and air pollutants), but
evidence is still inconclusive (Hertz-Picciotto et al., 2010).
Advanced paternal age is also associated with an increased risk
of ASD. Current evidence does not support the popular notion
of a link between vaccines and risk for autism or the historical
notion that poor parenting can determine autism. While it is
clear that autism and related conditions result from a complex
interplay of multiple genetic and environmental factors, the
exact mechanisms that underlie both the homogeneity and the
heterogeneity observed in ASD are largely unknown.
Several theoretical models of the neurobehavioral basis of
ASD have been proposed. One line of research focuses on the
possibility that a single neurocognitive process might explain
the phenotypic presentation of autism. The many cognitive/
neurocognitive explanations of ASD proposed within this
framework share the view that different pathological pathways
can ultimately result in one specic primary abnormality at the
neurocognitive level, which, in turn, can determine the
constellation of features (including strengths and weaknesses)
that are observed in ASD. The primary decits that have been
hypothesized to underlie autistic features include difculties in
the ability to attribute mental states to others (i.e., theory of
mind), a weak central coherence (i.e., a detail-focused processing style, whereby information is processed in terms of
constituent parts, rather than global meanings), a decit in
executive functioning (i.e., difculties in the exible organization of behavior), and a decit in affective connectedness/
intersubjectivity (see Frith, 1996). More recently, the broken
mirrors theory (Ramachandran and Oberman, 2006) pointed
to a primary decit in the embodied social understanding

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processes implemented by the mirror neuron system (a neural


network that activates in response to both self-generated and
observed actions and emotions). While each of these theories
has some explanatory power and has generated important
research, none of the proposed primary mechanisms provides
a satisfactory account for all the features observed in autism.
The current debate is focused on identifying the processes
underlying specic features, such as social difculties, rather
than attempting to nd a single explanation for all ASD
symptoms. The complex information processing model
(Minshew and Goldstein, 1998) posits that difculties in
handling information that is complex in nature affects the
ability to process social stimuli (as they tend to be inherently
more complex than nonsocial information). The social decit
models propose a specic difculty in processing social versus
nonsocial information, regardless of complexity level. Recent
developmental models of social impairment suggest that
a biologically based decrease in the salience or in the reward
value attributed to social stimuli during early developmental
stages virtually isolate children with ASD from the social
world, with downstream effects on social cognitive development (Chevallier et al., 2012).

Onset and Developmental Course


Historically, the onset of autism has been reported as occurring
in one of two patterns. The early onset pattern involves the
early emergence of abnormalities affecting development from
birth. In the regressive autism pattern, on the contrary, children
appear to be developing normally during early childhood, but
then undergo a regression and lose previously acquired
communicative and social skills. Recent research, however, has
questioned the notion of a sharp distinction of early onset
versus regressive autism (Ozonoff et al., 2008). In particular,
a number of studies based on the prospective investigation of
high risk samples indicate that at birth or shortly after birth
children with autism are undistinguishable from those without
autism (Yirmiya and Ozonoff, 2007). Abnormalities appear to
emerge over the rst 18 months of life, involving both a decline/
regression in certain areas (e.g., social attention) and a failure to
progress in other areas (e.g., language). Such delays and
diminishments in typical behaviors occur at different points in
development in different children, indicating a continuum,
rather than a dichotomy, in the age of onset in autism.
Autistic symptoms are relatively stable, with most individuals who meet ASD diagnostic criteria in childhood continuing
to meet criteria across the life span (for example, Howlin and
Moss, 2012). However, the expression and the severity of the
impairments seen in ASD can change over time. Studies on
individual developmental trajectories point to a remarkable
heterogeneity across functioning domains, which tend to
increase with age. For example, a large cohort study (Anderson
et al., 2007) documented that a subgroup of children with ASD
made signicant gains in communication, ultimately reaching
normative language level at 9 years of age, while another
subgroup made little progress. Similar heterogeneity in developmental trajectories has been documented in the social
domain, as well as in cognitive and adaptive functioning. There
are also well-documented reports of children who have largely

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Autism Spectrum Disorders

or completely lost their symptoms of autism (Fein et al., 2013).


Despite this remarkable variability in individual trajectories
and outcomes, existing evidence suggests that the majority of
adults in the autism spectrum, including those who had an
average cognitive functioning at the age of diagnosis, experience very limited social inclusion, do not have a paid
employment, and are not able to live independently.
The processes underlying these heterogeneous patterns of
onset and developmental course of autistic symptoms are largely
unknown. Existing research indicates that a complex interplay of
biological and environmental risk and protective factors, rather
than a single mechanism, might be at the origin of the diverse
expression of clinical features in the ASD population.

Clinical Management
Diagnosis and Assessment
In most countries, diagnosis is based on the criteria specied in
the DSM-5 or the ICD 10. Ascertainment of behavioral manifestations of ASD is achieved through a combination of direct
observation and parent questionnaires focused on the childs
developmental history. A number of standardized protocols
such as the Autism Diagnostic Observation Schedule (Lord
et al., 2006, 2012) and the Autism Diagnostic InterviewRevised (Le Couteur et al., 2003) have been developed to
facilitate differential diagnosis between ASD and conditions
that share supercial features (e.g., ID, attention decit hyperactivity disorder, reactive attachment disorder, specic
language impairments, and other communication disorders).
To lower the age of diagnosis (often exceeding 4 years of age,
CDC) and consequently facilitate early access to intervention
programs and services, screening and developmental surveillance are recommended (Johnson and Myers, 2007). Further
research is needed to establish whether a broad developmental
screener is preferable to ASD-specic tools. Beyond the core
symptoms, ASD affects the individuals functioning such as
cognitive, language, and adaptive skills in a variety of domains.
A comprehensive developmental assessment delivered by
a multidisciplinary team that considers these as well as other
aspects (e.g., the presence of challenging behaviors) is therefore
essential to identify strengths and weaknesses of each individual in order to build and monitor intervention programs
tailored on the childs specic needs and resources. As the
presence of co-occurring ID can affect the symptomatology, it is
important to take into account the developmental level of the
child in the clinical assessment in order to tease out the
differential contribution of ASD and ID to the presentation of
symptoms. Given the variability in the behavior of individuals
with ASD across settings (e.g., the same child might show few
social initiations in an unfamiliar context, but initiate often in
a familiar context), the involvement of parents in the assessment as a source of information is critical.

Treatment
Currently there is no cure for autism, and the issue of treatment
for such a heterogeneous condition whose etiology is uncertain
is a highly debated topic. While the unethical and unsupported
treatment approaches that were used until the 1970s (such as

the institutionalization of children to remove them from their


parents and the use of electric shocks to suppress abnormal
behaviors) are no longer included in the current treatment
guidelines, there is no general consensus on this subject.
A number of self-advocacy organizations question the need of
treating autism, on the basis of the notion that autism is a way
of being in the world, or a culture, that should be supported
and appreciated rather than treated. Others, while advocating
for a shift from a medical model (which aims at eradicating/
curing deviations from normality) to a social model (which
focuses on environmental and social barriers to civil rights and
inclusion), acknowledge the importance of interventions
aimed at increasing opportunities for self-determination in
individuals on the autism spectrum. Within the scientic
community, there is a growing effort to promote rigorous
research on treatment methods and outcomes within a social
model that takes into account preferences and rights of individuals with ASD. Current approaches to treatment are mostly
based on special education techniques. Different educational
intervention programs vary in terms of the specic domains
that are targeted (e.g., social skills versus self-management), the
instructional techniques (e.g., directive teaching versus playbased approaches), and the overarching treatment goals (e.g.,
focus on ameliorating ASD symptoms versus focus on personal
self-sufciency). Some approaches use specic strategies
to target a single domain or symptom (e.g., teaching how to
communicate using alternative communication systems to
compensate for language difculties, or practicing social skills
through adult-mediated social skills training groups). Other
approaches involve comprehensive intervention programs,
which target all areas of development. These programs usually
involve the intensive engagement of the child in a planned
educational intervention based on behavioral strategies, with
operationalized instructional procedures, and a data collection
system to facilitate progress and outcome measurement.
Within this framework, different programs vary according to
the specic curriculum, strategies, and underlying theoretical
framework. For example, the Discreet Trial Training model
(Lovaas, 1987) emphasizes a highly structured approach where
predened objectives are broken down in small, measurable
units of behavior that are taught through systematic reinforcement, often using extrinsic rewards. In the Early Start
Denver Model (Rogers and Dawson, 2010), instead, the focus
is on the application of behavioral principles in joint play
routines built on the childs spontaneous choices and motivation, with intervention goals organized around a behavioral
framework (e.g., joint attention skills are taught before
complex sentences, as joint attention precedes phrase speech in
typical development). While positive effects have been documented for different focused and comprehensive programs,
there is no evidence to indicate whether one treatment
approach is more effective than others. Given the variability in
learning proles in ASD, it is likely that different children will
benet more from specic approaches according to their
specic pretreatment characteristics; however, current knowledge on what works for whom in autism is limited. Moreover,
the degree of change that is attainable for individuals with ASD
with autism, especially for those who are more severely
affected, is not known. Initial claims of recovery in response to
behavioral treatment in half of the treated children have not

Autism Spectrum Disorders

been substantiated by research. However, signicant gains in


cognitive, language, and adaptive skills appear to be possible
for many individuals with ASD. Despite the differences in
treatment approaches, a number of elements that are shared
across most currently recommended programs appear to be
particularly important for positive outcomes. These involve the
enrollment of children in the intervention program as early as
possible, the intensity of the program (at least 1520 h per
week, according to most guidelines), the use of systematic
assessment procedures to dene individualized sets of goals
and monitor progress, and the involvement of parents.
Pharmacological treatment is sometimes used to target
specic issues that can be associated with ASD, such as irritability and aggression; however, no medication appears to be
effective in improving the core symptoms of autism.
A number of complementary/alternative medical treatments (i.e., treatments that are meant to be used alongside or as
a substitute for standard treatments recommended by health
professionals such as dietary interventions or supplements) are
widely used, despite the lack of evidence for their efcacy.

Cultural Issues
The prevalence of autism is thought to be consistent across
cultural groups, races, or countries and variations across sites
disappear when accurate case identication methods are followed (Kim et al., 2011). Indirectly, the presence of autism
parent organizations and advocacy groups across all continents
suggests the universality of the constellation of behaviors
originally described as autism by Leo Kanner. Nonetheless, the
diagnostic classication manuals of choice, the availability of
translated and validated diagnostic tools, as well as the beliefs
hold by professionals, and the stereotypes attached to autism,
which might inuence symptom reporting by parents, vary
across countries and play a major role in the diagnostic process.
Moreover, the context where symptoms become apparent may
be different in different cultural groups: for example, the
ascertainment of qualitative impairments in communication
should not overlook variations in language exposure, societal
expectations, and communicative styles in parents (Grinker
et al., 2011).
However, while it has been established that autism is
a global public health concern, the vast majority of the research
on the clinical presentation and neuropsychological prole of
individuals with ASD has been carried out in Western countries. Therefore, it is not clear whether ASD features are affected
by cultural differences, or whether ASD represents a culturally
universal phenotype. This is particularly relevant with regard to
neuropsychological and behavioral factors that are subject to
cultural variations, such as, for example, the ability to detect
items embedded within a more complex gure (known to be
superior in Western versus Eastern cultures; Nisbett and
Miyamoto, 2005) or the tendency to solve problems using
experience-based versus rule-based strategies (known to be
more pronounced in Eastern cultures; Norenzayan et al.,
2002). A recent cross-cultural study (Koh and Milne, 2012)
documented that, consistent with previous literature, British
children with ASD outperformed their typically developing
counterparts in tasks involving detection of shapes embedded

279

in a complex gure however, this was not the case in


participants with ASD from Singapore, suggesting an impact of
cultural variations in perceptual style of children with ASD.
However, more cross-cultural research is needed to determine
the degree to which cultural differences impact on symptom
expression and neuropsychological functioning in ASD.

Rights/Policies/Advocacy Issues
Alongside the rst advocacy campaigns of parents of children
with disabilities to ensure free and appropriate public education
(such as the Individuals with Disability Education Act in the
United States), advocacy in the eld of autism has historically
focused on education and access to healthcare for children. In
the United States, organizations such as the Autism Society of
America and Autism Speaks have battled to gain autism insurance legislation to ensure access to services, and such legislation
is now adopted or being considered by the majority of the
states. In 2003, the Council of Europe has admitted the
complaint presented by the umbrella organization AutismEurope and recognized that the situation of the education
provision in France constituted a violation of the right of
persons with disabilities to independence, social integration
and participation in the life of the community, as well as the
right of children and young persons to social, legal, and
economic protection (Articles 15 and 17 of the Social Charter).
As there is a growing population of adults with autism (who
would have went undiagnosed or misdiagnosed in the past), the
main advocacy organizations as well as self-advocates are
increasingly including in their agenda issues such as transition
into adulthood, employment and housing, services for adults,
and so on. Funding to services and research in the causes and
treatment of autism has seen an unprecedented rise in the past
decades, largely thanks to the efforts of these organizations. It is
important to note though, that huge difference exists across
nations: a recent report (Pellicano et al., 2013) has shown that
the average research spend per autistic individual is 18 times
higher in the United States than in the United Kingdom, and
although no comparison data are available for the rest of the
world, this gap is likely to be much wider.

Current Issues and Research Directions in Autism


Research
Despite the tremendous increase in research in the last 20 years,
autism remains an enigma. The complex phenomenology of
autism raises a multitude of questions on the psychological
and biological nature of social and emotional connectedness,
language, the understanding of self and others minds, as well
as issues on appreciation of diversity, human rights and selfdetermination, stimulating empirical research and debate
across a variety of disciplines. As it has become clear that this
disorder does not result from a single dysfunction or pathological pathway, current research is focusing on understanding
the interplay of biological, neuropsychological, and environmental factors. One critical issue that is still poorly understood
is the interrelation between the seemingly unrelated symptoms
of autism and their relation to the other features that are

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present in some but not all individuals on the spectrum (e.g.,


epilepsy, special talents). Research on factors underlying clinical heterogeneity should also inform research on the variability in treatment response in this population, with the
potential to identify proles of responders and nonresponders
to available treatment programs. The nature of ID in ASD is
another important issue: why do many individuals with ASD
(50%) have a cognitive delay, while some have an above
average IQ? What is the link between symptoms of autism and
cognitive development? Current research is addressing these
issues using a variety of approaches, but answers to these
questions remain elusive.
Advances in technology in the last decade (e.g., neuroimaging techniques) have offered unprecedented opportunities
to investigate brain functioning in ASD and brought to promising research leads, including evidence for atypical functioning
of the social brain network, abnormalities in the mirror
neuron system activity, as well as evidence for disturbances in
neural connectivity (e.g., the synchronization between different
brain regions). However, ndings in this area are often inconsistent, and research has thus far failed to identify neural
correlates of ASD that are universal, specic, and unique to
this condition.
A full understanding of the processes underlying ASD
symptoms is made difcult by the fact that the processes
underlying typical development of socialemotional reciprocity and their role in cognitive, language, and personality
development are poorly understood. Therefore, research
advances in the biology and neuropsychology of typical social
and emotional development have the potential to facilitate the
understanding of autism. Conversely, research in autism has
the potential to crucially inform knowledge in medical, biological, social, and behavioral sciences.

See also: Diagnostic Processes in Clinical Psychology and


Psychotherapy; Disability: Social and Psychological Aspects;
Goal-Oriented Behaviour Among Human and Non-Human
Primates; Intellectual Functioning, Assessment of; Mirror
Neurons, Theory of; Neural Correlates of Social Development;
Theory of Mind During Infancy and Early Childhood Across
Cultures, Development of.

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