IACAPAP Textbook of Child and Adolescent Mental Health

DEVELOPMENTAL DISORDERS

Chapter

C.2

AUTISM SPECTRUM DISORDER
2014 Edition

Joaquín Fuentes, Muideen Bakare, Kerim Munir,
Patricia Aguayo, Naoufel Gaddour & Özgür ÖnerJoaquin Fuentes MD
Child and Adolescent
Psychiatry Unit, PoliclínicaGipuzkoa, Gautena Autism
Society, San Sebastián, Spain
Conflict of interest: researchsupport from, unrestricted
speaker for, or has served on
the advisory boards of Eli Lilly,
Janssen, Neurochlore, Rocheand Shire

Muideen Bakare MD
Child and Adolescent
Psychiatry Unit, Federal NeuroPsychiatric Hospital, Enugu
State University of Science andTechnology, Enugu, Nigeria
Conflict of interest: researchsupport from the National
Institute of Health (NIH),
Fogarty International Center/
NIH, Grand Challenges Canada

Kerim Munir MD
Parents and patients with autism spectrum disorder demonstrating in Kiev, Ukraine, April 2012(“Mother, I do not have schizophrenia, I have autism” reads the plackard). The demonstration
was organized by the Child with a Future Foundation and supported by the Association of
Psychiatrists of Ukraine. This resulted in a change in diagnostic practices. Until then, children
with autism whose symptoms persisted after the age of 18 years were not diagnosed with
autism but with mental retardation or schizophrenia (Photo D Martsenkovskyi).

Developmental Medicine
Center, Boston Children’s
Hospital, Harvard Medical
School, Harvard University,
Boston, USA
Conflict of interest: researchsupport from the National
Institute of Health (NIH),

This publication is intended for professionals training or practicing in mental health and not for the general public. The opinions
expressed are those of the authors and do not necessarily represent the views of the Editor or IACAPAP. This publication seeks todescribe the best treatments and practices based on the scientific evidence available at the time of writing as evaluated by the authorsand may change as a result of new research. Readers need to apply this knowledge to patients in accordance with the guidelines andlaws of their country of practice. Some medications may not be available in some countries and readers should consult the specific drug
information since not all dosages and unwanted effects are mentioned. Organizations, publications and websites are cited or linked toillustrate issues or as a source of further information. This does not mean that authors, the Editor or IACAPAP endorse their content or
recommendations, which should be critically assessed by the reader. Websites may also change or cease to exist.
©IACAPAP 2014. This is an open-access publication under the Creative Commons Attribution Non-commercial License. Use,
distribution and reproduction in any medium are allowed without prior permission provided the original work is properly cited andthe use is non-commercial.
Suggested citation: Fuentes J, Bakare M, Munir K, Aguayo P, Gaddour N, Öner Ö. Autism spectrum disorder. In Rey JM (ed),
IACAPAP e-Textbook of Child and Adolescent Mental Health. Geneva: International Association for Child and Adolescent Psychiatryand Allied Professions 2014.

Autism spectrum disorder

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IACAPAP Textbook of Child and Adolescent Mental HealthAutism spectrum disorder (ASD) refers to a neurodevelopmental condition
defined by a number of behavioral features. According to DSM-5, thecore clinical characteristics of ASD include impairments in two areas offunctioning (social communication and social interaction), as well as restricted,
repetitive patterns of behavior, interests or activities. These symptoms are present in
the early developmental period, but may not be fully manifest until social demands
exceed the child’s limited capacities, or may be masked by learned strategies in later
life. Despite its early unfolding, this condition is not diagnosed until a few years
later. The increased identification of this disorder, its emotional impact on families
and the challenging financial demands associated with its treatment and support
currently make ASD an important illness at the scientific, clinic and public healthlevels. The treatments now available can achieve a far better quality of life forsufferers than was the case just a few years ago but it must be recognized that ASD
cannot be cured yet and that most people with ASD, particularly in developing
countries – with a few fortunate exceptions – are not receiving specialized
treatment or any treatment at all.
This chapter summarizes the current knowledge of the classification,
epidemiology, etiology, clinical picture, assessment, prognosis and treatment of
ASD. Because many of the symptoms and behaviors mentioned are difficult to
describe, hyperlinks are provided to view a variety of video clips illustrating theseand other relevant issues. Readers are encouraged to access them. It is hoped thismaterial will be useful for clinicians committed to changing global health practices
involving these patients and their families.

HISTORY
Eugen Bleuler (1857–1939) coined both the terms schizophrenia and autism
in Switzerland. He derived the latter from the Greek word autos (meaning ‘self ’)to describe the active withdrawal of patients with schizophrenia into their own
fantasy life in an effort to cope with intolerable external perceptions or experiences(Kuhn, 2004). The use of the term ‘autism’ in its current sense started 30 years
later when the Austrian pediatrician Hans Asperger adopted Bleuler’s terminologyof ‘autistic psychopaths’ in a lecture he delivered at the Vienna University Hospital(Asperger, 1938). Asperger subsequently published his second PhD thesis in 1944
(first transcribed in 1943) (Asperger, 1944) where he described a group of children
and adolescents with deficits in communication and social skills and also with arestrictive, repetitive pattern of behaviors.
At the same time, in 1943 – separated by distance, the Second World War
and apparently unaware of each other’s work – Leo Kanner, at Johns Hopkins
University Hospital in the US, described in his classical paper Autistic disturbancesof affective contact (Kanner, 1943) 11 children with striking behavioral similarities
to those depicted by Asperger. Most of the nuclear characteristics described by
Kanner such as ‘autistic aloofness’ and ‘insistence on sameness’ are still part ofthe criteria to diagnose ASD in current classifications. Children described byAsperger differed from those of Kanner in that they had no significant delays inearly cognitive or language development.
Asperger’s paper, published in German, remained largely unknown until
Uta Frith translated it into English (Asperger, 1944), making the findings widely

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Fogarty International Center/
NIH, the National Institute of
Mental Health/NIH and Grand
Challenges Canada

Patricia Aguayo MD
Child Study Center, Yale
University School of Medicine,
New Haven, USA
Conflict of interest: none
declared

Naoufel Gaddour MDChild and Adolescence
Psychiatry Unit, University ofMonastir, Monastir, Tunisia
Conflict of interest: none
declaredÖzgür Öner MD
Department of Child andAdolescent Psychiatry, Ankara
University School of Medicine,
Department of Child andAdolescent Psychiatry, Ankara,
TurkeyConflict of interest: researchsupport from the National
Institute of Health (NIH),
Fogarty International Center/
NIH

•
•

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Hans Asperger (19061980), Austrian pediatrician,described the symptoms ofautism in 1938.

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IACAPAP Textbook of Child and Adolescent Mental Healthavailable. These ideas were further disseminated by Lorna Wing (Wing, 1997)
in the UK. Subsequently, there was a gradual acknowledgement that autism
constitutes a spectrum, culminating in the adoption of this term in DSM-5. Thus,
ASD, with its range of severity levels and support needs, includes what was labelledin previous classifications as autism and Asperger’s disorder.
It was a misfortune that the original meaning of Bleuler’s term and its
theoretical association with schizophrenia, combined with the psychoanalytic
theories dominant in the mid twentieth century, amalgamated ASD withpsychotic disorders under the rubric of ‘childhood schizophrenia.’ The apparent
withdrawal observed in ASD patients was misinterpreted as being the same as thatin schizophrenia – a defensive retreat from an intolerable external situation, theresult of a pathogenic family (as it was then widely conceptualized). Unfortunately,some of these discredited ideas are still held by some. The relative importanceof ASDs in relation to other health conditions continues to be underestimatedby governments and international agencies (Lavelle et al, 2014). In Africa, forexample, clinical work on ASDs did not start until three decades after Kanner andAsperger had published their work (Lotter, 1978; Bakare & Munir, 2011).

Leo Kanner (1894-1981),
American psychiatrist,
described autism in 1943.

CLASSIFICATION
ICD-10 (World Health Organization, 1990) classifies autism under
the pervasive developmental disorders, a group of conditions characterized byqualitative abnormalities in reciprocal social interaction, idiosyncratic patterns ofcommunication and by a restricted, stereotyped, repetitive repertoire of interests
and activities. These qualitative abnormalities are a feature of the sufferer’sfunctioning in all situations. DSM-5 (American Psychiatric Association, 2013)
has made significant changes to this in its latest edition. Both ICD-10 and DSM-5
utilize a list of behaviors, require that a number of criteria be met in order to warranta diagnosis, and the two taxonomies are periodically reviewed to incorporate newresearch findings. DSM-5 was released in May 2013 and the revision of ICD-10(ICD-11) is expected to be approved by the WHO in 2015. Current ICD-11
working drafts seem to incorporate similar modifications to those in DSM-5.
Some of the changes incorporated in DSM5 have been controversial inscientific and lay circles. Further research is required to assess the impact of thesemodifications on research, clinical practice and public health policy. DSM-5 haseliminated the distinction in DSM-IV between autism, Rett’s disorder, Asperger’s
disorder, childhood disintegrative disorder, and pervasive developmental disorder
not otherwise specified, creating a unique ASD category, characterized by:
•
•
•
•
•

Persistent deficits in social communication and social interaction acrossmultiple contexts
Restricted, repetitive patterns of behavior, interests or activities either
current or elicited through the clinical history
Clinically significant impairment in social, occupational, or otherimportant areas of functioning
Presence from early childhood (although it may not become fully
manifest until social demands exceed the child’s limited capacities), andNot explained better by intellectual disability or global developmental
delay.

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Lorna Wing is an English
psychiatrist and physician
who promoted the conceptof an autism spectrum. She
is one of the founders of the
National Autistic Society in
the UK

Click on the image to hear
Susan Swedo MD discuss
briefly the changes to autism
spectrum disorder in DSM-5(2:28)

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IACAPAP Textbook of Child and Adolescent Mental Health

DSM-5 has thus eliminated the separate diagnosis of Asperger’s disorderwhile formalizing the ‘spectrum’ concept espoused by Lorna Wing, who favoredconsidering Asperger’s disorder a sub-category of a unified ASD construct (Winget al, 2011). Many people think that these demarcations, although officially may
go away, are likely to continue to be used in clinical and lay settings. For a brief
description of these changes follow the hyperlink in Susan Swedo’s video clip on
the previous page; for a more detailed description follow the hyperlink to AndrésMartin’s presentation.
Several welcome aspects have been incorporated in DSM-5, such as placing
ASDs under the more appropriate heading of ‘neurodevelopmental disorders’– instead of ‘pervasive developmental disorders’— and the recommendation toconsider ‘specifiers’ (descriptors), aimed at a more homogeneous subgrouping ofindividuals who share certain features (a known medical, genetic or environmental
condition; intellectual and/or language impairment; another neurodevelopmental,
mental or behavioral disorder, or catatonia). This improvement is accompanied by
the recognition of some symptoms that, while often experienced by patients, were
not considered in previous classifications: those related to hyper- or hypo-reactivity
to sensory stimuli or unusual interest in sensory aspects of the environment, forexample, apparent indifference to pain/temperature, adverse response to specificsounds or textures, excessive smelling or touching of objects, visual fascination
with lights or movement.
Finally, in a salutary move towards clarifying the functional needs of theindividual and the planning of support required, DSM-5 offers a table describing
severity levels, which can be summarized as:•••

Level 1: Requiring support (e.g., without supports in place, deficits
in social communication cause noticeable impairments. Difficulty
initiating social interactions, and atypical or unsuccessful responses tosocial overtures of others. Inflexibility causes significant interferencewith functioning in one or more contexts.)
Level 2: Requiring substantial support (e.g., marked deficits in verbal
and nonverbal social communication; social impairments apparent
even with supports in place; limited initiation of social interactions.
Inflexibility of behavior, difficulty coping with change or otherrestricted or repetitive behaviors appear frequently and interfere withfunctioning)
Level 3: Requiring very substantial support (e.g., severe deficits in verbal
and nonverbal social communication that cause severe impairments infunctioning, very limited initiation of social interactions, and minimal
response to social overtures from others. Inflexibility of behavior,
extreme difficulty coping with changes, which markedly interfere withfunctioning)

Perhaps the most controversial change in DSM-5 has been the creation ofa new category – social (pragmatic) communication disorder – separate from ASD.
According to many, social (pragmatic) communication disorder is identical towhat in DSM-IV was described as pervasive developmental disorder not otherwise
specified, a condition that constitutes in some specialist programs for ASD as
many as 50% of their patients.

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Click on the image to viewa lecture by Andrés Martin(Yale University, US) about
the new definition of
ASD in DSM-5 (available
in English, Basque, Spanish,and French); from theInternational Society for
Autism Research (INSAR)
meeting at Donostia/San
Sebastian (Spain) in 2013.
(28:23)SpecifiersSpecifiers are extensions
to a diagnosis that further
clarify the course, severity,or special features(descriptors). In the case of
ASD, some of the specifiers
are: current severity, withor without intellectual
impairment, associated witha known medical or genetic
condition etc.

Click on the image to listen to
Dr Temple Grandin talk about
hyper reactivity to sensory
stimuli. She is a writer,
biologist and educator who
suffers from autism (0:47)

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IACAPAP Textbook of Child and Adolescent Mental Health

Initial research on the impact of DSM-5 criteria has produced conflicting
results, some positive and some negative. It would appear that, at this point,
the new criteria provide better specificity at the expense of reducing sensitivity,
especially for older patients, those with comorbid intellectual disability, and thosewith Asperger’s disorder and partial clinical pictures (Grzadzinski, 2013; Volkmar,
2013). Providing more specifiers has been remarked as a useful way to identify key
aspects in these patients (Lai, 2013).
Finally, to further complicate classification issues, the influential US National
Institute of Mental Health has launched for research purposes, the research domain
criteria (RDoC), a new way of classifying psychopathology based on dimensionsof observable behavior and neurobiological measures.

Click on the picture to accessthe CDC website about
ASD with a lot of useful
information.

EPIDEMIOLOGY
Autism was once considered a relatively rare condition. Recent
epidemiological data have radically altered this perception. Based on large surveys
in the US, the Centers for Disease Control and Prevention (CDC), estimates
the prevalence of ASD as 1 in 68 children, occurring in all racial, ethnic andsocioeconomic groups, although it is five times more common among boys (1 in42) that girls (1 in 189). The CDC website also offers data from numerous studies
in Asia, Europe and North America showing an average prevalence of ASD of
about 1%. A recent survey in South Korea, which screened children in schools,
reported a prevalence of 2.6% (3.7% among boys and 1.5% among girls) (Kim etal, 2011). Another study in England estimated the prevalence of ASD at almost
1% in adults (Brugha et al, 2011).
However, epidemiological studies are difficult to compare. They vary in thecomposition of the population surveyed, recruitment mechanisms, sample size,
Table C.2.1 Prevalence of autism spectrum disorders, Autism andDevelopmental Disabilities Monitoring (ADDM) Network 2000-2010(combining data from all sites)
Surveyyear

Year ofbirth

Prevalence per 1,000 children(range)Frequency

2000

1992

6.7
(4.5–9.9)

1/150

2002

1994

6.6
(3.3–10.6)

1/150

2004

1996

8.0
(4.6–9.8)

1/125

2006

1998

9.0
(4.2–12.1)

1/110

2008

2000

11.3
(4.8–21.2)

1/88

2010

2002

14.7
(14.2-15.1)

1/68

Source: CDC website

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IACAPAP Textbook of Child and Adolescent Mental Healthdesign, awareness, participation rates, diagnostic criteria, instruments used as wellas whether impairment criteria are included (Fombonne, 2009). Nevertheless,using the same methodology over a period of ten years, the CDC’s Autism andDevelopmental Disabilities Monitoring Network has found increasing rates of
ASD in the US (Table C.2.1).
Although studies do not rule out temporal or external demographic
factors (such as being born to older parents, survival of premature or high risk
low birth weight babies, earlier diagnosis of young children with higher IQ who
spontaneously make progress over time that would not have been diagnosed years
ago, or only counting older children receiving special support), experts in the field
explain this rising prevalence by increased awareness and improvement in therecognition and detection of the disorder. This may explain why the prevalenceof ASD is reported to be lower in China (6.4 in 10,000) (Li et al, 2011). While
there is much research on ASD in Europe and North America, there is not a single
community based epidemiological study of ASD in sub Saharan Africa (Bakare &Munir, 2011). There are small studies examining the prevalence of ASD in children
with intellectual disability in Northern and Sub-Saharan Africa but no studies of
ASD in those without intellectual disability (Bello-Mojeed et al, 2013). Howevera significant increase of ASD among children of Ugandan mothers (Gillberg et al,1995) and of Somali women living in Sweden (Barnevick-Olsson et al, 2008) has
been reported.

EARLY DETECTION
It is acknowledged that early detection constitutes a major advance inthat it enables prompt intervention that may improve prognosis in a significant
proportion of children with ASD, but also because it clarifies the doubts andanguish of parents and allows adequate planning for future school placements andcommunity support.
It has been known for some time that there is a higher incidence of ASD
among siblings of already identified cases; this observation led to a more detailed
examination of newborn siblings and follow up during their first years of life.
Trying to identify early developmental signs that precede a diagnosis of ASD insiblings that eventually develop the disorder has been a fruitful area of investigation.
This change, from a retrospective view of abnormal development to a prospective
follow-up of children at risk, has led to remarkable advances. It has been shown inthese high-risk infants that there is a lack of findings during the first six months
in those who later develop ASD, except perhaps unspecific motor development
delays.
However, in the following six months, social interaction problems start tobecome apparent (Zwaigenbaum et al, 2005). By two years of age, toddlers inthe spectrum show clear problems in social communication, play, language andcognition, as well as other sensory and motor difficulties (Zwaigenbaum et al,2009). These findings confirm the notion that ASD can be identified earlier thanusual in some cases and that for many children 24 months of age coincides witha peak in the onset of new symptoms that would facilitate recognition. Click here
to access a one-hour webinar by Dr Zwaigenbaum discussing research on so-called‘baby siblings’ of children with autism as well as the implications of recent advances

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To improve recognition of theearly signs of ASD amongprofessionals, parents, andearly intervention providers,
Dr Rebecca Landa of
Kennedy Krieger Institutehas developed a brief video
tutorial on ASD behavioral
signs in one-year-olds. The
tutorial consists of six video
clips comparing toddlers
who show no signs of ASD
to toddlers who show earlysigns of ASD. Click on the
picture to view (9:02).

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IACAPAP Textbook of Child and Adolescent Mental Health

Figure C.2.1

Red flags to identify autism spectrum disorders and developmental delay

Source: First Words

in the early detection of the disorder.
Relevant information to guide clinicians comes from longitudinal research
conducted by the First Words Project (Florida State University) that identified
red flags for ASD, although they insist that there is no pathognomonic symptomthat guarantees the presence of ASD. Not all children with ASD show all andevery one of the symptoms all the time – this should prevent clinicians fromsaying “this child does not have autism, because I saw him looking at the eyes ofothers” or similar. The First Words Project came up with nine red flags that help
to distinguish children with ASD from children with developmental disabilities
and typically developing children, and four red flags that distinguish children with
ASD and developmental disabilities from normally developing children (Wetherby
et al, 2004).
Many questionnaires have been developed as potential screening tools forthe developmental assessment of children as well as for ASD screening, too many
to list here. Description of these developmental screening tools, whether there aretranslations in languages other than English, their sensitivity and specificity, andwhere they can be found are available in this American Academy of Pediatrics’table.
Common myths shared by many professionals and policy-makers aboutdevelopmental screening are summarized in Table C.2.2. A variety of practiceflowcharts are also available, largely produced by national societies, but the one
produced by the American Academy of Pediatrics represents the current gold

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Click on the image to view a
lecture by Rebecca Landa(Kennedy Krieger Institute,
Baltimore, US) about “Early
diagnosis and course
in ASD” (available in
English, Basque, Spanish,and French); from theInternational Society for
Autism Research (INSAR)
meeting at Donostia/San
Sebastian (Spain) in 2013.
(34:32)

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IACAPAP Textbook of Child and Adolescent Mental Health

Table C.2.2

Myths about developmental screening

Myth # 1“There are no adequate screening tools for preschoolers”

Fact

Although this may have been true decades ago, today sound screening
measures exist. Many screening measures have sensitivities andspecificities greater than 70%

Myth # 2“A great deal of training is needed to administer screening
correctly”

Fact

Training requirements are not extensive for most screening tools. Many
can be administered by paraprofessionals

Myth # 3“Screening takes a lot of time”

Fact

Many screening instruments take less than 15 minutes to administer, andsome require only about 2 minutes of professional time

Myth # 4“Tools that incorporate information from the parents are notvalid”

Fact

Parents´ concerns are generally valid and are predictive ofdevelopmental delays. Research has shown that parental concerns
detect 70% to 80% of children with disabilities

Source: CDC / Autism website

standard for screening ASD in developed countries (Johnson & Mayers, 2007).

Screening instruments for ASD
Among the many instruments available (click here for a list: Table 1 in
the Practice Parameters of the AACAP), there are currently two that merit special
mention since they are free to use, deal with different age groups (one younger
children and the other older ones), have undergone cross-cultural adaptation andtranslation to many languages, and have been researched in various countries.
These are the Modified Checklist for Autism in Toddlers (M-CHAT) (Robins etal, 2001) and the Childhood Autism Spectrum Disorders Test (CAST) (formerly
known as Childhood Asperger Syndrome Test) (click here for an on-line versionof the test)
The M-CHAT can be complemented with the M-CHAT Follow-Up
Interview, also available at the M-CHAT website. It is recommended that M-CHAT
users also incorporate the M-Chat Follow-up Interview into the screening given
recent findings that use of the follow up interview greatly reduces false positive
cases, avoiding unnecessary referrals. The CAST is also freely available for noncommercial purposes and in many languages at the website of the Autism ResearchCentre of the University of Cambridge.
The American Academy of Pediatrics recommends screening for ASD all 18
and 24 month old children using a staged procedure (Johnson & Meyers, 2007).
However, there are practical and ethical difficulties in doing so and it is questionable
if screening should be routinely implemented worldwide. First, the psychometricproperties of these instruments are far from perfect. Some, like M-CHAT, identify
a proportion of cases that turn out not to have ASD (false positives), althoughhealth authorities may not consider this a problem since it detects children that

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Click on the picture below toaccess an instant-scoring,on-line, free, English version,
with all the required materials
and references

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IACAPAP Textbook of Child and Adolescent Mental Healthrequire support for other conditions anyway (e.g., developmental delays, speech
problems). There are also false negatives: a proportion of children having thecondition are not identified by the screening. A study that combined observationof the child’s social interaction and parent reports, showed a significant increasein the sensitivity and specificity of screening. The Three Items Direct Observation
Screen (TIDOS) (Oner et al, 2013) is such a screening device. It was developedin a middle income country but may be useful in low and middle income settings
also.
Al-Qabandi et al (2011) challenge the belief that screening should be done
because there is an effective treatment (e.g., early behavioral intervention). Althoughpromising, treatments are not equally effective in all children with ASD and weare just beginning to understand who will be best served with what treatment,
but many questions remain and there is no cure yet. It is widely recognized thatscreening for a condition without having the resources or effective treatment (as it
happens for ASD in most regions of the world) may be unethical. In the same line,
it is not clear whether young children with ASD are more easily recognized using
universal screening instruments administered by professionals than, for example,
through a culturally sensitive, community campaign. Despite all these controversies
it is accepted that increasing information, educating families, teachers and medical
staff to recognize ASD is a step forward.
The mechanisms used to detect ASD are likely to be different for eachcountry and region, depending on culture and child rearing practices, but will
mainly depend on the availability of developmental surveillance (not isolated
checking for a specific condition). Most children in the world do not have accessto ‘well-baby programs’ and to developmental surveillance. Access to healthshould include empowering communities and health systems to identify the mostprevalent disabilities in a given community. In developed countries these include
intellectual disability, cerebral palsy, deafness, blindness, and ASD. In other partsof the planet, the priorities for surveillance might be very different. In summary,
we propose that context-friendly developmental surveillance should be conducted

Bernard Rimland, PhD(1928-2006), American
psychologist, was thefounder and director of theAutism Research Instituteand founder of the Autism
Society of America. He
opened the way for thecurrent understanding ofautism by introducing thenotion that it was a disorderof brain development.

There are practical andethical difficulties inscreening for ASDs and it
is questionable whether
screening should beroutinely implemented
worldwide

Drawing by Khalil, an 11 year
old child with ASD

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9IACAPAP Textbook of Child and Adolescent Mental Healthfor all children with administration of screening instruments to those suspected ofhaving ASD.

ETIOLOGY AND RISK FACTORSIn the US, in the 1950s and early 1960s, autism was thought to be due tothe defective upbringing of children by cold and rejecting parents, thereby leaving
the child with no alternative but to seek comfort in solitude, as once claimed by
Bruno Bettelheim. In his book “The Empty Fortress: Infantile Autism and the Birthof the Self ”, Bettelheim compared autism to being a prisoner in a concentration
camp (something he had experienced himself in Germany during WWII) (Finn,
1997). In 1964, Bernard Rimland opened the way for the current understandingof autism by introducing the notion that it was a disorder of brain developmentwith his seminal book “Infantile Autism: The Syndrome and its Implications for a
Neural Theory of Behavior” (Rimland, 1964)

Genetic factors

Click on the image toview a lecture by Thomas
Bourgeron (Pasteur
Institute, Paris, France)
about “Explaining ASD:
genetic aspects”(available in English, Basque,
Spanish, and French); fromthe International Society for
Autism Research (INSAR)
meeting at Donostia/San
Sebastian (Spain) in 2013
(26:42)

Evidence for the importance of genetic factors in the etiology of autism
comes from many sources, including twin and family studies (Muhle et al, 2004).
Autism is, for example, 50 to 200 times more prevalent in siblings of autistic
probands than in the general population. Among probands’ relatives who do nothave autism, there is also an increased prevalence of milder forms of developmental
difficulties related to communication and social skills (broad phenotype).
Concordance rates for autism range from 36% to 96% in monozygotic twins but
only 0% to 27% in dizygotic twins (Shadock & Shadock, 2008).
Although the heritability of autism has been estimated to be as high as 90%(Freitag, 2007), genetic factors are heterogeneous, complex and for the most part
poorly understood. The precise mechanisms are being explored through wholegenome screening, cytogenetics, and evaluation of candidate genes (Muhle et al,2004). In studies of candidate genes, there are replicated findings of increased
risk for autism associated with variants in single genes on chromosomes 2, 3, 4,
6, 7, 10, 15, 17 and 22 (Freitag et al, 2010). Cytogenetic studies have implicatedabnormalities at the 15q11-q13 locus in individuals with autism (Muhle et al,
2004; Smalley, 1991). Genome-wide association studies have found slight effects
on autism risk with genetic variants at the 5p14.1 and 5p15 loci (Ma et al, 2009;
Weiss et al, 2009). Also, replicated copy number variations, found in genome-wide
association studies to be more common in individuals with autism than in controls,
are located on chromosome regions 1q21, 2p16.3, 3p25-26, 7q36.2, 15q11-13,
16p11.2 and 22q11.2 (Freitag at al, 2010). Future directions for genetic researchin autism lie in identifying specific gene-environment interactions. Click here toaccess a detailed recent review of genetics in ASD and guidelines for genetic studies
from the American College of Genetics and Genomics (Schaefer & Medelsohn,2013).

Neuroanatomic and neuroimaging findings
Neuroanatomic and neuroimaging findings, though not diagnostic,
have consistently revealed increased cerebral volume that affects both grey andwhite matter, as well as enlarged ventricles. Neuroimaging findings also include

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Etiology
Interested readers canlearn about ongoing studies
on the etiology of ASDs
by checking the following
websites:•Childhood Autism
Risks from Genetics
and the Environment(CHARGE)•
Norwegian Autism
Birth Cohort Study(ABC)•
Centers for Autism
and Developmental
Disabilities Researchand Epidemiology(CADDRE)

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IACAPAP Textbook of Child and Adolescent Mental Healthabnormalities in brain chemistry, serotonin synthesis, and brain electrophysiology(Courchesne et al, 2004; Hazlett et al, 2005; Lainhart, 2006).
The autism spectrum is now understood to be neurodevelopmental, meaningthat there are differences in the pattern of brain development. For example, earlybrain overgrowth has been documented in the first two years of life (Courchesne etal, 2001) and, in later development, there are clear differences in the function andstructure of the ‘empathy circuit’ of the brain (amygdala, ventromedial prefrontal
cortex, temporo-parietal junction, orbitofrontal cortex, anterior cingulate, andother related brain regions) (Lombardo et al, 2011). There are also differencesin connectivity between frontal and parietal lobe functions that are thought torelate to cognitive style, in particular an over-reliance on processing details anda relative under-reliance on processing gist or holistic information (Belmonte etal, 2004). Diffusion tensor imaging studies have suggested aberrations in whitematter tract development (Wolf et al, 2012). Recent studies (Stoner et al, 2014)
have identified discrete patches of disorganized cortex in the majority of postmortem samples obtained from young autistic children. These patches occurredin regions mediating the functions that are disturbed in autism: social, emotional,
communication, and language. Such abnormalities may represent a common
set of developmental neuropathological features that underline autism andprobably result from dysregulation of layer formation and layer-specific neuronaldifferentiation at prenatal developmental stages.

Click on the image to viewa lecture by Joe Piven(Carolina Institute forDevelopmental Disabilities,US) about “Explaining
ASD: neurobiologicalaspects” (available in
English, Basque, Spanish,and French); from theInternational Society for
Autism Resarch (INSAR)
meeting at Donostia/San
Sebastian (Spain) in 2013.
(30:00)

Environmental factors
A number of environmental factors have been claimed, particularly in the

Clay art by Santiago, an 11 year old with autism spectrum disorder. Photo: Lynn Albrink

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IACAPAP Textbook of Child and Adolescent Mental HealthInternet, as playing a role in the etiology of ASDs, including mercury, cadmium,nickel, trichloroethylene, and vinyl chloride (Kinney et al, 2010). It is important
to note that the previously suggested link between MMR vaccines and autism
spectrum disorders (Wakefield et al, 1998) has been debunked by international
agencies that include Centers for Disease Control and Prevention, Institute ofMedicine of the US National Academy of Sciences, the UK National HealthService and the Cochrane Library. The Wakefield et al (1988) article publishedin Lancet that suggested the association between the MMR vaccine and autism
has since been declared fraudulent and officially withdrawn (Goodlee et al, 2011).
Associations between different environmental factors contributing tovitamin D deficiency and increased risk of autism have also been proposed (Grant& Soles, 2009). Population based studies in Scandinavia found that the use of
prenatal folic acid supplements around the time of conception was associated witha lower risk of autistic disorder (Surén et al, 2013), while maternal use of valproate
during pregnancy was associated with a significantly increased risk of ASD andchildhood autism in the offspring, even after adjusting for maternal epilepsy(Christensen et al, 2013).

Epigenetic factors
There are indications that, in addition to genetic and environmental
factors, epigenetic factors also play some role through the fact that several genetic
syndromes that are comorbid with ASD show dysregulation of epigenetic marksthat help regulate gene expression (Grafodatskaya et al, 2010). The epigenetic lineof research also holds promise in offering an explanatory model to understand theputative increased incidence of autism suggested by epidemiological findings.

Click on the picture to accessthe NICE guideline: “Autism:
Recognition, Referral and
Diagnosis of Children andYoung People on the Autism
Spectrum”

Risk factors
The NICE (2011) guideline Autism: Recognition, Referral and Diagnosis ofChildren and Young People on the Autism Spectrum, while stressing the low qualityof evidence found, lists the risk factors for ASDs that are clinically and statisticallyimportant as:
•
•
•
•
•
•
•
•
•
•
•
•
•
•

A sibling with autism
A sibling with another ASD
Parental history of schizophrenia-like psychosis
Parental history of affective disorder
Parental history of another mental or behavioral disorder
Maternal age older than 40 years
Paternal age between 40 and 49 (ASD)
Paternal age older than 40 years (autism)
Birth weight less than 2500 g
Prematurity (under 35 weeks)
Admission to a neonatal intensive care unit
Presence of birth defects
Male genderThreatened abortion at less than 20 weeks

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IACAPAP Textbook of Child and Adolescent Mental Health••Residing in a capital city
Residing in suburb of a capital city.

In relation to medical conditions associated with ASD, with the sameproviso of low quality of the evidence, the NICE guideline lists the prevalence of
ASDs in several medical conditions (prevalence of ASDs between parentheses):
•
•
•
•
•
•
•
•

Intellectual disability (8%-27.9%)
Fragile X syndrome (24%-60%)
Tuberous sclerosis (36%-79%)
Neonatal encephalopathy/epileptic encephalopathy/infantile spasms(4%-14%)
Cerebral palsy (15%)
Down syndrome (6%-15%)
Muscular dystrophy (3%-37%)
Neurofibromatosis (4%-8%).

Neonatal physical illnesses such as post-encephalitic infections and sepsis
had been documented to precede the onset of symptoms of ASDs, especially in
Sub-Saharan Africa. Autoimmune factors have also been claimed as a possible
etiological factor in ASDs. This would result, if finally demonstrated, fromreactions between maternal antibodies and the fetus (Bakare & Munir, 2011).
In summary, although heritability of autism has been estimated as extremely
high, the challenges faced in understanding the etiology of autism lie in theobservation that genetic factors are heterogeneous, complex, and the interaction
between genes and environment are poorly understood. There are on-going andambitious individual and familial longitudinal studies that promise to give ususeful data in this regard.
Future directions for genetic research in autism lie in identifying specific geneenvironment interactions. Research must overcome the challenges of elucidating
the roles of genetic heterogeneity, epigenetic mechanisms and environmental
modifiers. It is hoped that technological advances, combined with longitudinal
projects, will help us understand in the near future the etiological complexities ofthese disorders and will advance specific ways to treat and to prevent them.

CLINICAL ASPECTS
Qualitative impairments in social interaction and social
communication
Of the core symptom domains that define autistic disorder, impairment
in social interaction and communication is central. This includes impairment in
non-verbal behaviors used to regulate social interactions, failure to develop peer
relationships appropriate to the child’s developmental level, and lack of spontaneous
seeking to share enjoyment, interests or achievements with others (e.g., by a lackof showing, bringing or pointing objects of interest to the attention of others).
Children with impairments in these areas lack social or emotional reciprocity.
Responding to joint attention and initiating joint attention is very importantin social learning and is associated with language and cognitive development.

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IACAPAP Textbook of Child and Adolescent Mental Health

Impairment in joint attention is a very important early symptom that can be seen
even in very young children with autism.
Research on the theory of mind has shown that children’s ability to imitate
others lies at the origin of understanding the perspective of others. Theory of mind
enables one to have an idea of the mental state of others and, to some extent,
predict their actions.
Theory of mind is also related to the ability to understand deception andother people’s emotions (empathy). Theory of mind impairments negatively
affect pretend play, empathy, sharing, social and emotional reciprocity and peer
Figure C.2.2 Photographs illustrating “red flags”; video clips available at the Autism Speaks
video glossary

A typical child at 12 months shifts his eye gaze from the windup toy to the clinician and then coordinates his eye gaze withsmiling. A child with ASD becomes focused on the windup toy and does not look at or engage in interaction with adults.

A child with ASD at 18 months looks at the bubble jar and his mother’s hands but does not shift his eye gaze from the jar to hismother’s face to convey what he wants. The same child at 27 months has been in an early intervention program and, although
he still has significant language challenges, he is now able to look at his mother’s face in coordination with a sign or gesture
and word.

A typical child at 15 months demonstrates facial expression; the movements of the face are used to express his emotions
and to communicate with others nonverbally. A child with ASD at 20 months has a marked impairment in the use of facial
expressions and other nonverbal behaviors.

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IACAPAP Textbook of Child and Adolescent Mental Healthrelationships. Theory of mind impairments can be seen in all individuals with
ASD regardless of age and intelligence when mental age-appropriate tests are used
(Baron-Cohen, 2009). However, theory of mind deficits are not exclusive to ASD
and can be seen in schizophrenia and in some personality disorders.
Another important concept is stimulus overselectivity: children with ASD
exhibit overly selective attention to some particular stimuli, not to the gestalt ofwhat is being seen or heard (like making a puzzle not using the image to be built
but paying attention only to the shape of the pieces). This is also not unique to
ASD and can be seen in children with intellectual disabilities.
Stimulus overselectivity can be due to restricted attention or bias towards
non global, local information. The latter has been described as the weak central
coherence theory (Happe & Frith, 2006). The bias explanation allows individuals
with ASD to have superior local information processing ability. Enhanced perceptual
functioning theory (Mottron et al, 2006) posits that individuals with ASD havebiased perception, which is more locally oriented; detail perception is enhanced
and movement perception is reduced. Baron-Cohen and associates (2009) argue
that sensory hypersensitivity leads to excellent attention to details and hypersystemizing leads to law-based pattern recognition, which can produce talent.
Children with ASD use nonverbal behaviors such as eye contact, gestures,body postures and facial expressions less often than typically developing children.
One of the most important findings in recent years has been the observation that
two-year-olds with autism fail to orient towards biological motion – human bodies
in motion (Klin et al, 2009) – and they do not preferentially look to the eyes ofapproaching adults (Jones et al, 2008).
Even high-functioning individuals with ASD have problems in peer
relations. Some persons with ASD do not have any interest at all in relating topeers while others may not be able to play in different sides of a game (e.g., seeking
and hiding). Some may want to relate to peers but have problems in interpretingother’s actions and responding accordingly. Many subjects with ASD do notcomprehend the nature of social relations, that is, the intuitive or deductive hidden
norms or meanings that govern our relationships and may fail to develop adequate
empathy. All of these difficulties lead to impairments in social relations.
In terms of qualitative impairment in communication, symptoms may
include:••••Delay in, or a total lack of development of spoken language, which is
not accompanied by compensatory attempts
Marked impairment in the ability to initiate or sustain conversations
Stereotyped, repetitive or idiosyncratic language; andLack of varied, spontaneous imitative or make-believe play.

Language delay, lack of language, and peculiarities in spoken language arecommon in ASDs and they are often the parents’ initial concern. The importantdistinction lies in the compensatory attempts; children with other developmental
and sensory disabilities usually try to compensate by using non-verbal means –such as gestures – for communication. In children with speech, functionality andsocial directedness of the speech is very important, often lacking in those with
ASD. Repetition of another person’s words, echolalia, is frequent in ASD. The

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Click on the image to view a
lecture by Francesca Happé(King’s College London, UK)
about “Understanding
the person with ASD”
(available in English, Basque,
Spanish, and French); fromthe International Society for
Autism Research (INSAR)
meeting at Donostia/San
Sebastian (Spain) in 2013.
(41:45)
Joint attention
This term describes
children’s capacity of being
able to look at anotherperson's eyes and face inorder to get informationsuch as how that person
feels, what that person islooking at, or what that
person is trying to do. It isalso being able to follow
another person's eye-gazeto then look at the samething and being able tosustain joint attention,
which is harder in an
activity where you cannot
predict what the otherperson will be doing, feelingor planning. Certain social
situations require shifting
attention frequently tomonitor the other person.

Click on the picture to hear
Uta Frith (University College
London, UK) describe weakcentral coherence and its
role in ASD (4:00)

15

IACAPAP Textbook of Child and Adolescent Mental Healthrate, volume and intonation of speech can be abnormally high, low, fast, slow,
jerky, monotonous, etc. Individuals with ASD may invent their own words orphrases and language can be repetitive, may repeat the same phrases even when
they are inappropriate to the context. Even high-functioning individuals with
ASD can have problems initiating and sustaining a conversation. This includes
lack of small-talk, not providing enough information, not asking for informationand not building on other people’s comments. When combined with restrictedinterests, conversation with persons with ASD can be very difficult to sustain.
Figure C.2.3 Photographs illustrating “red flags”; video clips available at the Autism Speaks
video glossary

A typical child at 12 months reaches cautiously into the bag, looks at the clinician for reassurance and actively explores the
Koosh “cat” ball by touching and mouthing it, and shows it to his mother. A child with ASD at 20 months has good eye gaze,
however he is very reluctant to touch the Koosh “cat” ball. His strong negative reaction is known as “sensory defensiveness”.

A child with ASD at 3 years of age anticipates the noise from the balloon and covers his ears, throws the balloon and thengives it to his mother to protest. The same child at 5 years again covers his ears in anticipation of the balloon being shot into
the air. Although over-reactive to sensory input, he is now able to tell the clinician that he does not want her to let the air out.

A child with ASD at 2 years is very over-reactive to light and starts engaging in self-stimulating behavior to soothe or comfort
himself. A child with ASD at 3 years is very reactive to loud noises, like hand clapping. This child puts her hands over hereyes and reaches to her mother for comfort.

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IACAPAP Textbook of Child and Adolescent Mental Health

Figure C.2.4 Photographs illustrating “red flags”; video clips available at the Autism Speaks
video glossary

A typical child of 15 months uses speech-like sounds or babbling in a meaningful, interactive way. The same typical child at
22 months uses clear words to name animals while pointing to pictures in the book.

A child with ASD at 22 months has desire and shows effort to communicate with a lot of gestures and minimal vocalization, but
he does not have words yet. The same child at 28 months is trying to imitate the words “more” and “open” verbally.

A child with ASD at 28 months produces unusual sounds for language. A child with ASD at 36 months has unusual sounds forlanguage. It seems more like self-talk since she never looks at others.

Click on the picture to access the Autism Speaks website.
This is an excellent resource documenting all the symptoms
and signs. The facility is free; information cannot be
downloaded but can be used online by professionals whowant to show these symptoms (video clips) to families orin training sessions. The video clips contrast the behavior
seen in children with ASDs with that of typically developingchildren. The Video Glossary was created by Amy M.
Wetherby, PhD, director of the Florida State University
Autism Institute and Nancy D. Wiseman, founder andpresident of First Signs®.

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IACAPAP Textbook of Child and Adolescent Mental Health

I don’t have any friends. The bullying started in kindergarten when I got my glasses. The
teacher made a popular boy wear fake glasses so I’d have someone to connect with, but
as it turned out, he didn’t really want to talk about whether archaeopteryx should be
categorized as a prehistoric bird or dinosaur. Needless to say, that friendship lasted lessthan a day. By now I have gotten used to kids telling me to leave, to sit somewhere else.
I never get called on the weekends. I just don’t get the social hints that other people do.
So if I’m talking to someone in class and he says, “Man, is it one o’clock already?” I lookat the clock and tell him that yes, it is one o’clock already, when in reality he is trying tofind a polite way to get away from me. I don’t understand why people never say what
they mean… For me being in social situations—whether that’s school, or Thanksgiving
dinner, or the line at the movies—is like moving to Lithuania when you haven’t studied
Lithuanian.
Judi Picoult (2010). House Rules. New York: Atria Books

Play can be functional or imaginative. Functional play is when toys are used
as intended, for example using a toy fork as a fork or pressing the buttons of acause-and-effect toy. Problems in make-believe and imitative play are apparent inmany children with ASD. Typically developing children play with several materials
in a flexible and creative way. For example, in typical make-believe play children
can use a puppet as a general and a wooden block as the car of the enemy soldier(imaginative play). Everything can be used in an imaginative way.

Repetitive, restricted, stereotyped patterns of behavior,activities and interests
According to DSM-5, this core symptom domain includes preoccupation
with stereotyped and restricted patterns, inflexible adherence to routines,
stereotyped and repetitive motor mannerisms, and persistent preoccupation withparts of objects. It has been suggested that this domain is very broad and contains
at least two subtypes of behaviors: (a) repetitive sensory motor behaviors (lowerorder) and (b) insistence on sameness – and possibly circumscribed interests –(higher-order). Repetitive sensory motor behaviors are more frequently seen inyoung children and are associated with lower non-verbal intelligence.
Many individuals show strong interests in some topics; they read extensively
about them, collect items related to them, can talk on that subject for hours, andmay proceed as young adults to join interest groups or societies dedicated to theirinterest. The difference between these normal behaviors and those of individuals
with ASD can be explained in terms of narrowness of the focus, inflexibility,
perseveration, and lack of social quality. Individuals with ASD can focus on a very
specific part of the object of their interest, for example, only the number of teeth
in dinosaurs. They can have problems in switching to other topics even when otherpeople are clearly not interested in what they are talking about. They keep focusing
on the topic when they are supposed to do other tasks and may become distressedor even agitated when they are interrupted. They may show less interest in sharing
their hobby in social ways, like joining a club.
Inflexible adherence to specific, non-functional routines or rituals is also atypical symptom of ASDs. Difficulties with minor changes in personal routine andresistance to even small changes in the environment can cause significant problems

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IACAPAP Textbook of Child and Adolescent Mental Health

Figure C.2.5 Photographs illustrating “red flags”; video clips available at the Autism Speaks
video glossary

A typical child at 20 months engages in make-believe play by offering “coffee” to everyone and scooping food for Big Bird andhimself. A child with ASD at 20 months does not engage in make-believe play but instead explores objects by turning themover and rolling them.

A typical child at 15 months engages in make-believe play by hugging and feeding Big Bird with the bottle, and stirring, pouring,and blowing on food. He shifts his focus from one toy to another and from the toy to people. A child with ASD at 16 months does
not engage in make-believe play but instead is very focused on wobbling the bowl and cup.

A child with ASD at 5 years zeroes in on (and gets stuck on) a ball that looks like a globe. He has been intensely interested
in planets for a few years, so he was particularly drawn to the ball, to the exclusion of all the other toys. Same child with ASD
at 5 years gets stuck on the camera. He has shown an interest in the camera and other mechanical or electronic things for a
few years.

Click on the picture to access Autism
Europe’s “Persons with Autism Spectrum
Disorders: Identification, Understanding,Intervention”

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IACAPAP Textbook of Child and Adolescent Mental Health- I said, ‘Thank you for helping me with my investigation.’- And she said, ‘You’re Christopher, aren’t you?’- I said, ‘Yes I live at number 36.’
- And she said, ‘We haven’t talked before, have we?’
- I said, ‘No I don’t like talking to strangers. But I’m doing detective work.’- And she said, ‘I see you every day, going to school.’- I didn’t reply to this.
- And she said, ‘It’s very nice of you to come and say hello.’- I didn’t reply to this either because Mrs Alexander was doing what is called chatting
where people say things to each other which aren’t questions and answers and aren’t
connected.
- Then she said, ‘Even if it’s only because you’re doing detective work.’- And I said, ‘Thank you,’ again.
Haddon M (2003) The Curious Incident of the Dog in the Night-Time. Jonathan Cape, p50.

in their and their families’ daily lives (e.g., severe tantrums).
Stereotyped and repetitive motor mannerisms and persistent preoccupation
with parts of objects is more evident in younger children and individuals withintellectual disability. These include hand and finger flicking, rocking, toe walking,sniffing and licking non-food objects, spinning, and unusual visual gaze, among
others. Persistent preoccupation with parts of objects can be seen, for example
spinning wheels, flickering the eyes of dolls.
Stereotyped behaviors can be observed in several other conditions including
Tourette’s Disorder, Fragile X syndrome, Rett’s disorder, obsessive compulsive
disorder, deafness, blindness, schizophrenia and a variety of intellectual disabilities
without ASD. It seems that the frequency but not the pattern – which is related tothe developmental level – of the behavior is what is distinctive for ASDs (Bodfish
et al, 2000).
Children with ASD show several atypical behaviors, probably due to sensory
hypersensitivity, that can be observed in visual, auditory and tactile modalities andcan be specific to certain stimuli (Baron-Cohen et al, 2009). Visual hypersensitivity
may lead to lateral vision – staring at objects with pupils at the corner of the eyes
(Mottron et al, 2006). Lateral vision has been interpreted as an attempt to limit
excessive information or to focus on optimal information.

DIAGNOSIS
There is broad agreement that, once the presence of ASD is suspected, thechild should be referred for a multi-disciplinary assessment in which all membersof the team should have some ASD training and at least one team member shouldbe trained in the assessment and diagnosis of ASD using standardized instruments.
Also, it is recommended that the child should be ideally observed in different
settings, both structured and unstructured. It needs to be recognized, however, thatthe vast majority of child and adolescent mental health services worldwide do not

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IACAPAP Textbook of Child and Adolescent Mental Healthhave the state-of-the-art instruments such as the Autism Diagnosis Observation
Schedule, the Autism Diagnostic Interview, the Diagnostic Interview for Social
and Communication Disorder or the Developmental, Dimensional and Diagnostic
Interview used in specialized clinics in wealthy countries. This highlights the needfor dissemination, training and development of multi-cultural, multi-language,
cheap, reality-oriented, user-friendly, instruments.
The NICE guideline is freely available and considers all the aspects of
the ASD-specific diagnostic assessment, provides recommendations about its
core elements, autism-specific diagnostic tools and how best to communicate toparents a diagnosis of autism for their child. In summary, the NICE guideline
reiterates what has been established in other guidelines including a detailed
enquiry into the specific concerns raised by families and teachers, medical history,
home life, education and social care, and history and observation focusing on thedevelopmental and behavioral features specified in ICD-10 and DSM-5. This core
information is usually sufficient to establish a diagnosis of autism when diagnosis
is straightforward. Beyond the diagnosis of ASD, a diagnostic assessment should
also include a profile of strengths, needs, skills and impairments. The instruments
needed for this will depend on the age of the patient and the developmental level,
but should be capable of helping to identify:
•
•
•
•
•
•
•
•
•

Click on the image to access“Diagnostic Instruments for
ASD”

Intellectual ability and learning style
Academic skills
Speech, language and communication skills
Fine and gross motor skills
Adaptive (including self-help) skills
Socialization skills
Mental and emotional health including self-esteem, physical healthand nutrition
Sensory hyper- and hypo-sensitivities
Behaviors likely to affect participation in life experiences, future
support and management.

Physical examination
A thorough physical examination should also be undertaken. Findings
from the physical examination may be useful to detect coexisting conditions or
symptoms of disorders that may have a causative role or increase the suspicionof an ASD. Particular attention should be given to identifying skin stigmata ofneurofibromatosis and tuberous sclerosis, as well as congenital abnormalities anddysmorphic features including micro and macrocephaly. The examination should
also look for signs of physical injury, such as self-harm or maltreatment (Volkmar
et al, 2014p244).

Differential diagnosis
Autistic disorder, when presenting in its typical form, is not difficult torecognize by a professional with some experience. However, clinicians should
rule out medical, genetic, neurological or sensory dysfunctions or disorders. The
situation is different for clinical pictures that do not fit the traditional descriptions

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IACAPAP Textbook of Child and Adolescent Mental Healthof the disorder, which are becoming more frequent due to the widening of theconstruct into the autistic spectrum and this can lead to diagnostic disagreement.

Infants and toddlers
Differential diagnosis at this age should rule out disorders that interferewith normal development of language and social skills. Hearing loss can besuspected if the child has lost his babbling, shows poor vocalization or indifference
to auditory stimuli. Routine exam in very young children who cannot be expected
to cooperate include otoacoustic emissions and impedance audiometry. If they arenormal, there is no need for further testing. If they are abnormal, the external ear
should be examined and both tests should be repeated in two to three months. If
the results are again abnormal, auditory evoked potentials should be studied.

Severe psychosocial deprivation
It is well known that severe emotional deprivation in childhood leads toserious psychological impairments including pseudo-autistic clinical pictures(Rutter et al, 1999). The autistic-like symptoms in these cases usually consist of a
relative indifference to the environment, communication delay, restricted interests
and repetitive behaviors. Unlike in ASD, social reciprocity is not completely
abnormal – although bonding may be affected – and deficits can be reversed
quickly in the majority of cases if environment improves.

Click on the image toaccess the National
Institute for Health andClinical Excellence(UK) guideline on therecognition, referral,diagnosis and managementof adults on the autism
spectrum.

Intellectual disability (formerly known as mental retardation)
It is often a difficult diagnosis to exclude in the early years of life because
evaluation of cognitive functioning is more difficult (see Chapter C.1). Some
symptoms (e.g., facial dysmorphy, microcephaly) may suggest the existence ofgenetic or neurological problems known to cause intellectual disability. It is also
documented that severity of intellectual disability is positively correlated with social
interaction deficits (Wing & Gould, 1979). Therefore, attributing communicationand socialization defects, self-injurious or stereotypic behaviors to autism orsevere intellectual disability can be challenging. This can be provisionally solved
if there is evidence of an abnormal development in social, communication andimaginative skills discordant with the general level of intelligence (very difficult toclarify when mental age is below 18 months). It is important here to highlight thatthe association of ASD and intellectual disability is very common and that many
known causes of intellectual disability, such as chromosomal abnormalities, often
present with autistic symptoms (e.g., Fragile X syndrome, Prader-Willi syndrome)(see Chapter C.1).

Rett’s disorderDSM-5 does not include this condition among the ASDs. Although patients
often have autistic symptoms they are apparent only for a brief period during
early childhood, so inclusion in the autism spectrum is not appropriate for mostindividuals. Rett’s disorder is an X-linked neurodevelopmental condition that
affects girls almost exclusively. Typically, there is normal development until 6–18
months of age, then development stops and a regression appears (loss of speechand of purposeful hand use) with specific hand stereotypies and social withdrawal,
which mimic an autistic picture. Besides, there is a deceleration in head growth

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It is important to highlightthat the association of ASD
and intellectual disability
is very common and thatmany known causes
of intellectual disability,
such as chromosomal
abnormalities, often present
with autistic symptoms(e.g., Fragile X syndrome,
Prader-Willi syndrome).

22IACAPAP Textbook of Child and Adolescent Mental HealthClay art by Santiago,
an 11 year old with
autism spectrum
disorder. Photo: Lynn
Albrink

leading to acquired microcephaly and seizures may appear. Research has led to theidentification of a gene (MECP2) on the X chromosome (explaining the higher
frequency in girls, but some male cases have been reported) (Amir et al, 1999).

Receptive-expressive language disorders
Expressive language disorders are very common in children and usuallyconsist in a simple delay in mastering phonology, lexicon and syntax that looks
very selective in the context of a typical development of social skills, non-verbal
communication, cognitive skills and imagination. The situation is more challenging
in a group of children previously diagnosed as ‘pervasive developmental disorders
not otherwise specified’ that in DSM-5 are considered as not having ASD, butrather a social (pragmatic) communication disorder, a condition only differentiatedfrom ASD by the absence of restricted/repetitive patterns of behavior, interests,
or activities. The usefulness of this new diagnosis has been sharply questioned,
since there are no studies supporting it as being an unrelated disorder. Also social(pragmatic) communication disorders constitute a significant proportion of cases
participating in ASD treatment programs.

Landau–Kleffner syndrome
Acquired aphasia with epilepsy or Landau–Kleffner syndrome ischaracterized by a normal development until age three to four followed by a massive
regression of receptive and later expressive language, typically in conjunction
with the development of seizures or sleep electroencephalogram abnormalities.
The regression may be associated with transient social withdrawal but a complete
autistic picture is not observed. There is a sub-type of pervasive developmental
disorder, childhood disintegrative disorder, where regression is evident, but the
regression occurs earlier (18 to 24 months of age).

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IACAPAP Textbook of Child and Adolescent Mental HealthSelective mutism and separation anxiety
Withdrawal, anxiety and communication problems are common. However,it can be easily distinguished from autism because of the existence of normal
communication and social skills at home or in other familiar environments.

Older children
Differential diagnosis in typical autistic presentations is easier in older
children, but it can be difficult in cases within the broader phenotype, cases in the‘periphery’ of the spectrum, especially in high functioning children, or cases witha partial syndrome. Accurate medical and developmental histories, careful clinicalexamination, and reports from social situations are all essential..
Clinicians should consider childhood schizophrenia (see Chapter H.5).
Confusion between this rare condition and ASD may arise from poor expressionof emotions and negativism. However, hallucinations and delusions are specific toschizophrenia. Furthermore, most children with early onset schizophrenia do notshow the language delay or abnormalities and the social deficits that are typical of
ASDs.
Other psychiatric conditions to be excluded are attention deficit hyperactivity
disorder (ADHD), especially as ADHD and ASD can now in DSM-5 coexist,
and obsessive compulsive disorder (OCD), because of the rituals and selectedinterests seen in OCD, but the differential diagnosis can be made on the basisof the history and clinical presentation. It is of interest to highlight that someauthors refer to a disorder not included in the current classifications: multiple
complex developmental disorder (Towbin et al, 1993), which consists of impaired
regulation of affective state with primitive anxieties, impaired social reciprocity
and thought disorders, but failing to meet criteria for ASD.

PROGNOSIS AND ADULT OUTCOMES
ASDs are disorders that start in infancy; therefore, significant changes
occur with development that will impact adult outcome. These changes should
not be overlooked and require ongoing monitoring and individualized adaptation
to optimize support programs. Baghdadli et al (2007) have stressed the highvariability in short-term outcomes of pre-schoolers, emphasizing the importanceof considering individual characteristics and adaptive strategies. They suggest thatthese differences may be due to certain initial characteristics like speaking skills
and severity of autistic symptoms.
The more severe the comorbid intellectual disability the poorer is theoutcome. It is generally accepted that speech before the age of six and a higher IQ
are associated with better outcomes (Billstedt et al, 2011). However, there is limited
research data about the whole spectrum across the life cycle. Therefore, cliniciansmust be cautious when predicting the distant future of their patients. ASDs are
lifetime disorders and cannot be cured yet. Nevertheless, disability depends not
only on the characteristics of the individual but also on the environment that isoffered to that person, adapted or not, to minimize the disabilities.

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IACAPAP Textbook of Child and Adolescent Mental Health

Uncertainty arises from three sources. First, little research has been done
about the role played by the supports provided. Second, there is a younger and lessseverely affected group of individuals now diagnosed with ASD in industrializedcountries; their prognosis and response to treatment may be better than traditionallyobserved and some may even overcome some of their symptoms so that they nolonger meet criteria for diagnosis later on. These optimal-outcome patients will
still retain residual anomalies, such as in narrative performance (Feinn, 2013; Suh,2014). Finally, there is limited epidemiological data on adults, particularly thosewith Asperger’s disorder. Marriage and Wolverton (2009) showed that despite
adequate academic achievement, work, living and mental health status can bepoor in this population. Lehndardt et al (2011) estimate that the lifetime rate of
psychiatric consultations for this group in Germany can be as high as 78%.
Overall, it can be said that the majority of children with ASD will continue
to show deviance and difficulties in social interactions throughout their lives. It
should be assumed that they will need support and help in many areas. However,their quality of life can be improved when adequate programs are available in theircommunities. Community based programs should be adapted to each individual,
taking into consideration areas of difficulty and strengths, as well as the resourcesthat the community has to offer. People with autism will need structure, clarityand predictability throughout their lives.
Behavior and adaptive skills tend to improve with age. Nordin and Gillberg(1998) found that measures of flexibility and cognitive shifting abilities tend to bepredictors of good social outcome. Unfortunately, more research is needed on theadult population, so that programs may be tailored to meet their needs as well as
supporting transition into adulthood, which can be quite difficult.

Three words summarize thetreatment of individuals with
ASD:
•
•

Personalize
Contextualize•

Empower.

Prognosis should be discussed with the family to avoid unrealistic
expectations and focus all efforts on early intervention and on fostering family
involvement and knowledge as well as community participation. It is importantto underline that current efforts in treatments and the creation of services (nonexistent in most countries), will shape the future functioning of the children
diagnosed and treated now.

TREATMENT
Treatment of ASDs depends on so many factors that it makes descriptionof ‘the treatment’ difficult. Differences in age, degree of impairment, comorbid
disorders, family and social situation, level of resources and community
development, provision of education (or lack of it), health and welfare assistance,
opportunities for sheltered employment, and availability of inclusive living in thecommunity in adult life will make a huge difference to sufferers’ outcome andquality of life. If there are three words that summarize what should be done forpeople with ASDs, they are to personalize, to contextualize and to empower.
Despite accepting these common sense ideas, many families and clinicians
search for a cure for ASD, as if there was a single cause, a unique mechanism, anda single condition underlying the syndrome that, if identified, would lead to a curefor all ASDs. The Internet allows families and professionals to hear about many‘treatments’ – some based on current knowledge but others based on false beliefs orAutism spectrum disorder

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25

IACAPAP Textbook of Child and Adolescent Mental Health‘To assess Theory of Mind, researchers use the Sally-Ann test to see if children can understand how other people
think. This test uses a story format with two girls, Sally and Ann. Sally has a ball, which she puts in a basket, andthen she leaves the room. While she is gone, her tricky friend Ann removes the ball from the basket and places it
in a box instead. Children are then asked to guess where Sally will look for the ball when she returns. Those who
understand Sally’s thinking will choose the basket, knowing that’s where Sally thinks she left the ball. Those wholack Theory of Mind will choose the box because that’s where they know the ball has been placed. Typically children
with autism believe that Sally knows the ball is in the box because they know it’s there; they don’t stop to consider
that Sally is unaware that the ball has been moved while she was gone.
Since Alex has never been tested for Theory of Mind as far as I know, I was curious to see how he would do with
the Sally-Ann test. When I gave him the test this morning, he immediately gave me the right answer, confidently
telling me that Sally would look for her ball in the basket. Was this a lucky guess, or does Alex truly possess Theoryof Mind? From recent progress we have seen in Alex, I believe that he has developed some understanding of theway other people think.
As the article in Science magazine points out, little research has been done to determine what helps develop
Theory of Mind. With Alex, I think that behavioral therapy has helped him to understand better how his actions
impact others. Through social stories and scripts his behavioral therapist has developed, Alex recites the rules forinteracting with other people. For example, in his script “I Need to Keep My Hands to Myself,” he reminds himselfthat he needs to stop when he wants to touch someone or their belongings. The last line of this script explains theoutcome when he follows the guidelines: “EVERYONE is happy when I keep my hands to myself.” In addition, his
behavioral therapist discusses with Alex the potential consequences of impulsive behaviors, asking him what canhappen if he would throw something or grab someone. He knows that those are bad behaviors and can verbalizethat he doesn’t want to break things or hurt people. He will sometimes add, “That would be sad.”’Pam Byrne. One Autism Mom’s Notes (with permission)even superstition – with the result that many are confused about what to do. The
worst aspect is that families (and often professionals) feel there is something elsethey should be doing and by not doing it, they are not providing the best treatment
for their loved one with ASD. In the same line, very often there is a disregard for
local limitations and resources. Thus, programs developed over the years in wealthy
countries are copied or applied in completely different areas of the world without
regard for the local circumstances, opportunities and future maintenance of the
program.
While there is no cure for ASDs, there is strong evidence that appropriate,
lifelong educational approaches, support for families and professionals, andprovision of high quality community services can dramatically improve the livesof persons with ASD and their families. There are up to date practice guidelines
in many countries such as Spain (Fuentes-Biggi et al, 2006) and the UK (NICE,
2011) that have reviewed the available evidence for a large variety of treatments
advocated for ASD. The UK departments for Education and Skills and for Healthhave also produced guidelines for the education of students with ASDs. Much has
been learned about practices that are supported by evidence and those that are not,and about which programs make a real difference to the lives of individuals with
ASD. Unfortunately, this knowledge has not yet been incorporated into clinicalpractice around the world, even in some affluent societies. Thus, there remains a
gap between knowledge and opportunity; it is evident that very few people with
ASDs receive state-of-the-art support.
Recent reviews of the evidence conclude that relatively few treatments meetthe necessary criteria when assessing the value of interventions. Nevertheless,

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Click on the image to watch
the administration of the
Sally-Anne test

Click on the image to viewa lecture by Connie Kasari(University of California
Los Angeles, US) about“Treatment of ASD
in early childhood”(available in English, Basque,
Spanish, and French); fromthe International Society for
Autism Research (INSAR)
meeting at Donostia/San
Sebastian (Spain) in 2013.
(33:36)26

IACAPAP Textbook of Child and Adolescent Mental Healthevidence is improving, with growing numbers of well-conducted studies.
Randomized control trials are also increasing in number. However, even whenoutcome is positive, most research still focuses on very short-term goals and on alimited number of outcome measures. There is little attempt to address questions
such as whether treatment succeeds in maximizing the long-term potential of theindividuals involved or if it truly improves their quality of life. Such issues may
require different research strategies such as audits and reviews, systematic analysis
of problems, and measures of satisfaction. It is also crucial to collect the views ofindividuals with ASD themselves.
To date, programs involving behaviourally-based interventions, those
designed to improve parent-child interactions, and those with an emphasis on
developing social and communication skills appear to have the strongest supporting
evidence, at least in the short term. As Autism Europe states, there are many otherelements that are essential to improve longer-term outcome:•••

Education, as early as possible, with special attention to social,communication, academic and behavioral development, provided in
the least restrictive environment by staff who have knowledge andunderstanding of both autism and the individual student.
Accessible community support, in terms of appropriate, well-informed,
multi-agency services that will help each individual to realize theirpotential and life-time goals (either chosen by the individuals
themselves, or those who know, love and legally represent them).
Access to the full range of psychological and medical treatments (adapted asnecessary to meet the needs of individuals with ASD) that are available
to the general population.

The use of psychotropic medication in this population calls for caution andsound knowledge. In summary, medication is currently justified only to treat
comorbid conditions (e.g., ADHD), not for the core symptoms of ASD, and in
the management of challenging behaviors (e.g., aggression, self-harm) that do
not respond to other approaches. There is good evidence that risperidone can be
helpful for the latter (see presentation by Andres Martin in side box). Sung et al(2014) have reviewed drugs in development for ASD.
According to Autism Europe, interventions that are best supported byevidence and are examples of good practice include four principles:•••

Individualization. There is not a single treatment that is equallyeffective for all persons with ASD. Variations in the manifestationsof this spectrum as well as sufferers’ skills, interests, life vision andcircumstances mandate personalization.
Structure. That is, adapting the environment to maximize eachindividual’s participation by offering varying degrees of predictability
and stability, more effective means of communication, establishingclear short and long-term goals, defining the ways in which these goals
can be met, and monitoring outcomes.
Intensity and generalization. The interventions used should not be
sporadic or short term, but applied in a systematic manner on a daily
basis, across different settings, and by all those living and working withthe person with ASD. This will ensure that the skills acquired in morestructured settings can be maintained in real life situations. Those

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Click on the image toview a lecture by Patricia
Howlin (Institute of
Psychiatry, London, UK)
about “Treatment of
ASD during the life
cycle” (available in
English, Basque, Spanish,and French); from theInternational Society for
Autism Research (INSAR)
meeting at Donostia/San
Sebastian (Spain) in 2013.
(40:09)There are a variety
of strategies that canaugment autistic children’scommunication ability. New
technologies are expanding
greatly the capacity andsophistication of thesecommunication aids. One
example is “e-Mintza”, afree application to generate
a personal communication
board on a computer ortablet (currently available
in the Basque, Spanish,
English and Frech). To viewa short video about e-Mintza(in Basque and Spanish),click on the picture above.
Click here to download theapplication in any of the four
languages.

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IACAPAP Textbook of Child and Adolescent Mental Health

Table C.2.3
Treatments for autism spectrum disorders, evidence supporting theireffectiveness and recommendation about their use
EffectivenessNot supported
by evidence

Weaklysupported byevidence

Intervention

Recommendation

•
•
•
•
•
•
•
•
•
•

Doman-Delacato therapy
Irlen lenses
Facilitated communication
Psychodynamic psychotherapy
Secretine
Antimycotic therapy
Chelation
Immunotherapy
Craniosacral therapy
Animal assisted therapies

Not recommended

•
•
•
•
•

Auditory integration
Sensory integration
Expressive psychotherapies (art and music)
Vitamins and dietetic supplements
Gluten and/or casein free diets

Recommended
only in controlled
research studies•••

Social skills programs
Augmentative / alternative communications systems
TEACCH (Treatment and Education of Autistic and Related
Communication-Handicapped CHildren) program
Cognitive behavioral therapy
SSRIs in adults with ASDs (if comorbid with obsessive
compulsive disorder)
Stimulants in persons with ASD and comorbid ADHD•••
Supported byevidence••

Recommended

Behavioral interventions
Risperidone (for comorbid severe irritability or challenging
behaviors)

Source: Fuentes-Biggi et al (2006)•

responsible for carrying out the interventions should also have accessto appropriate support and guidance from professionals with expertisein ASDs.
Family participation. Throughout childhood and beyond, parents must
be recognized and valued as the key elements of any intervention.
Information, training and support, always within the context offamily values and culture, should be the common denominator ofany professional intervention. Other important sources of support,such as babysitting, respite care, short breaks, or tax benefits should
be available to avoid the discrimination that many of these families
face. Adequate support for social, medical and educational services isnecessary to ensure that these families are able to enjoy the same qualityof life as everyone else. A recent study in the US (Lavelle et al, 2014)concluded that, even in a high income country, the economic burden
associated with ASDs is substantial and can be measured across multiple
sectors. Previous analyses that focused on health care underestimatedAutism spectrum disorder

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Medication treatment
Click on the picture to viewa lecture by Andrés Martin(Yale Child Study Center,US) discussing in detail theevidence for pharmacologicalintervention in autism(52:15).

28

IACAPAP Textbook of Child and Adolescent Mental Healththis economic burden, particularly for schools. Given the increasing
incidence of ASD, these high costs may not be sustainable. Therefore
cost-effective intervention in the low and middle income countries
context is critical.
Globally, given that the vast majority of people with ASDs are not receiving
specialized treatment − more often than not, they are not receiving what could
be considered adequate generic treatment − child mental health professionals
should be devoting their efforts to the development of resources in the community
where they practice and to support these children’s families. Regardless of theirage, most people with ASDs around the world live with their families. It is ofthese families that one needs to ask how they want to be supported, what are theirpriorities, what are their dreams, what life project they would like for their child.
The person with ASD should participate in this dialogue, directly or helped troughinterpersonal support and augmentative communication means; in the minority(at least 25%) that cannot express themselves at all, by delegation, from people
who know them well. Families are the essential support network that cannot be
replaced by government; their role should be gratefully recognized – our task
being to maximize their potential in their own terms. We are talking not only
about a health goal but also about fighting ignorance and discrimination.
••

Click on the image toview a presentation
by Joaquín Fuentes(Policlinica Gipuzkoa,
San Sebastian, Spain)
about “ASD: support
and community
development” (available
in English, Basque, Spanish,and French); from theInternational Society for
Autism Research (INSAR)
meeting at Donostia/San
Sebastian (Spain) in 2013.
(40:09)Do you have questions?
Comments?

Click here to go to the Textbook’s Facebook page to share your views about
the chapter with other readers, question the authors or editor and makecomments.
PLEASE GO TO APPENDIX C.2.1 FOR SELF-DIRECTED LEARNING
EXERCISES AND SELF-ASSESSMENT QUESTIONSClay art by Santiago, an
11 year old with autism
spectrum disorder. Photo:
Lynn Albrink

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IACAPAP Textbook of Child and Adolescent Mental Health

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International Journal of Developmental Neuroscience,
23:143-152.
Zwaıgenbaum L, Bryson S, Lord C et al (2009). Clinicalassessment and management of toddlers withsuspected autism spectrum disorder: insights fromstudies of high-risk infants. Pediatrics, 123:1383-1391.

Clay art by Santiago, an 11 year old with autism spectrum disorder. Photo: Lynn Albrink

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IACAPAP Textbook of Child and Adolescent Mental HealthAppendix C.2.1
SELF-DIRECTED LEARNING EXERCISES AND SELF-ASSESSMENT•

Administer, score and write a brief report after you have administered the MCHAT-R to
the parents of three children, 2½-4 years of age (we suggest you choose one child withpossible ASD, one normal developing child, and one with intellectual or communication
problems)
Click on the picture on page 8 to access the M-CHAT website and see if your local language version is available. If
not, use the English version and contact the authors (contact address available in their website). They will probably beinterested in collaborating with you in making a (non-commercial) translation to your language.

•

Administer, score and write a brief report after you administer the CAST to the parents of
two children aged 5 to 7 years (we suggest you choose one child with social/communicationdifficulties and a normally developing child)
Click on the picture on page 8 to access the website of the Autism Research Centre of the University of Cambridge, findthe CAST instrument, and see if there is a version in your local language. If not, use the English version and contact theauthors (contact address available in their website). They will probably be interested in collaborating with you in making a(non-commercial) translation to your language.

•Prepare three PowerPoint slides illustrating the causes of autism spectrum disorder for atalk to be delivered to an audience of parents and representatives from your community,
Please review pp. 10 to 13. If you want to make a comprehensive presentation, access also the embedded links andconsider them in your talk.

•Write a one-page essay summarizing the ideas you want to highlight after studying
this chapter. Please, consider sending this essay – with the linking reference – to yourcolleagues.

MCQ C.2.1
Which of the statements
listed below apply to the definition of ASD
in DSM-5?
1. Asperger disorder remains a separate
diagnosis
2. ASD is classified under the heading of
pervasive developmental disorders
3. Hyper- or hypo-reactivity to sensory stimuli
are included in the diagnosis

MCQ C.2.2
When examining babies-atrisk (those born after an older sibling who
suffers from ASD), it has been found thatfrequently younger siblings showed nonspecific motor delays which in about one
quarter of them preceded the developmentof ASD. These motor problems can beseen at about the age of…
1. Six months

4. It does not consider “specifiers”

2. Twelve months

5. Social (pragmatic) communication disorderis considered part of ASD

3. Eighteen months
4. Twenty four months
5. Thirty months

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IACAPAP Textbook of Child and Adolescent Mental Health

MCQ C.2.3
Which of these conditions
are associated with ASD more often than
expected?…

4. Cystic fibrosis

MCQ C.2.5
Many treatments havebeen proposed for ASD and families finda bewildering array of therapies in theInternet, most without any supporting
evidence. Trustworthy guidelines, using
evidence-based data and bearing in mind
patients’ safety, highlight that for thetreatment of the core symptoms of ASD it
is recommended to…

5. Tuberous sclerosis

1. Implement facilitated communication

1. A Diabetes mellitus type 1 (formerly insulin
dependent diabetes)
2. Nephrotic syndrome
3. Ewing sarcoma

MCQ C.2.4
Risperidone has beenstudied as a potentially useful treatment
for comorbid severe irritability andchallenging behavior in children with
ASD. According to the Research Units on
Pediatric Psychopharmacology Autism
Network Study, the size of the effect ofrisperidone compared with placebo in
relation to irritability (measured with the
Aberrant Behavior Checklist) after eightweeks of treatment was…

2. Administer behavioral interventions
3. Use chelation in order to remove potential
toxic compounds
4. Provide psychodynamic psychotherapy
5. Administer secretine

1. Nil
2. Marginal (<0.2)
3. Moderate (0.6)
4. Large (1.2)
5. Very large (1.8)

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IACAPAP Textbook of Child and Adolescent Mental HealthANSWERS TO MCQS•MCQ C.2.1
diagnosis

Answer: 3 (hyper- or hypo-reactivity to sensory stimuli are included in the

See page 5 as well as the video clips of Susan Swedo, Andrés Martin and Temple Grandin•

MCQ C.2.2

Answer: 1 (six months)

The Baby Sibs studies (systematic developmental surveys of babies born after an older
sibling was diagnosed of ASD) show a prospective view of the unfolding of autism, which
is different from what we had expected: no symptoms appear before six months, justnon-specific motor delays. In the following 12 months many social and communication
symptoms start to appear. Autism unfolds with development and the “peak” of symptom
onset in the most disabled children is before 24 months. Nevertheless, some siblings
do not show any difficulties at that age, but eventually show the ASD symptoms at 36
months of age. Please review pages 6 and 7 and the video clips from Drs Landa and
Zwaigenbaum (embedded in the text in these pages).
•

MCQ C.2.3

Answer: 5 (tuberous sclerosis)

24-60% of patients with tuberous sclerosis also have ASD. Thus, when any of these two
conditions are diagnosed, clinicians should screen for the other one. Please see page
13. If you want to review the risk factors identified for ASD, please click on page 12 on theimage of the 2011 NICE Guideline embedded there.
•

MCQ C.2.4

Answer: 3 (large (1.2))

The effect size of risperidone on irritability was large: 1.2 (Aberrant Behavior Checklist
irritability score). When general improvement observed by blinded researchers wasconsidered, risperidone was quite effective, to the point that one needs to treat just twopatients to observe a significant improvement in one (number needed to treat). It needs tobe emphasized that no effect was seen in the social and communication aspects of ASD. If
you want to know more, please review the lecture by Andres Martin embedded in page 28.
•

MCQ C.2.5

Answer: 2 (administer behavioral interventions)

Please review Table C.2.3 (page 28). You may also wish to view the video clip by Patricia
Howlin (page 27) for a review of these treatments. The video clip by Connie Kasari on page
26 offers full details about early treatment. If you want to know even more information
about treatment, click the NICE link on page 22, and you be able to learn about the reasonsfor the rejection of many therapies that, sadly, are still advocated by some lay people (andeven some professionals) in many countries.

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