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3 S 20 B978008097086823 Tkdgchbnvmbjlhoiñ
3 S 20 B978008097086823 Tkdgchbnvmbjlhoiñ
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.
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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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.
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
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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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
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
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.
280
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