Child psychiatry and developmentAL disorders
Autism spectrum disorder
in childhood
Armin Raznahan
Patrick Bolton
Abstract
The term autism spectrum disorder (ASD) refers to a group of child-
hood onset neurodevelopmental disorders characterised by problems
with social communication and repetitive behaviours. These conditions
are increasingly recognised and often associated with marked disability
across the lifespan. Whilst the causes of ASD remain uncertain, it is
clear that genetic factors play a major role. Diagnosis should take place
following a multidisciplinary assessment which also identifies individual
strengths and weaknesses. As yet, there is no cure for ASD, and few
evidence-based options for the treatment of core-features – educational,
behavioural and occasionally pharmacological interventions can be used
to good effect.
Keywords autism spectrum disorder; child; development; pervasive
­developmental disorder
Clinical features
Autism spectrum disorder (ASD) includes the diagnoses of autism,
Asperger’s syndrome and atypical autism which fall within the
pervasive developmental disorder (PDD) category of ICD-10.1 All
three diagnoses are characterized by the presence of:
• impairments in verbal and non-verbal communication
• impairments in reciprocal social interaction
• the presence of restricted interests and repetitive behaviours.
ASD diagnoses differ from each other in early developmental
­profile and symptom severity. Diagnostic criteria, important dif-
ferential diagnoses, comorbid disorders and associated features
are shown in Table 1. A key feature of ASD is its marked variabil-
ity in presentation. This greatly impacts on academic and clinical
approaches to ASD.
Epidemiology
Prevalence estimates of autism and ASD have shown a dramatic
increase over the past 30 years: a recent UK study suggested that
up to 1% of children may fulfil criteria for an ASD (­approximately
Armin Raznahan MRCPCH MRCPsych is a MRC Clinical Research Training
Fellow at the Institute of Psychiatry, King’s College London, UK
Competing interests: none declared.
Patrick Bolton PhD FRCPsych is a Professor of Child Psychiatry at the
Institute of Psychiatry, King’s College London, UK. Competing interests:
none declared.
MEDICINE 36:9
What’s new?
• There is postnatal brain overgrowth in the first three years
• Submicroscopic, structural chromosomal copy number variants
are associated with autism
• There is no good evidence that MMR vaccine plays a role in
aetiology
0.3% autism, 0.2% Asperger’s syndrome, 0.5% PDD-other).2
This change is thought to be largely driven by increased public
and professional awareness, and improved and altered diagnos-
tic practice.3
ASD is more prevalent in males, although the sex ratio varies
(M:F − autism 4:1, Asperger’s 10:1). There is no clear evidence
that the prevalence of ASD differs as a function of socioeconomic
status or ethnicity.
Aetiology
Autism shows the highest heritability estimates of any psychi-
atric disorder (approximately 90%). The genetic influences are
complex, and so far no common genetic variants of major effect
have been identified. Non-genetic factors must also play a role as
behavioural differences can be seen within affected monozygotic
twins pairs. Despite many suggestions and much speculation,
however, no clear environmental risk factors for ASD have so far
been identified.4
In approximately 10–15% of ASD cases, a primary ­ medical
disorder can be identified (e.g. tuberous sclerosis, Fragile X
syndrome). The remainder of cases are considered ‘idiopathic’
and thought to reflect the combined action of multiple risk
alleles for ASD. New approaches in genetic research, however,
are changing our models for how genes might relate to behav-
iour in ASD.5,6 Neuroimaging studies in people with ASD have
found there to be early brain overgrowth, as well as structural
and functional abnormalities within and between specific brain
regions (fronto-­temporal cortices, limbic system, basal ganglia
and ­cerebellum).7,8
Assessment
National guidelines available for ASD assessment adopt staged
models.9,10 They emphasize the need for effective surveillance
in primary care, the use of appropriate screening tools,11 and
the benefits of diagnostic assessment being carried out in a mul-
tidisciplinary team setting by experienced clinicians. The best
validated and most widely used research-diagnostic instruments
are the Autism Diagnostic Interview-Revised (ADI-R)12 and the
Autism Diagnostic Observation Schedule (ADOS)13, and they can
be useful in the diagnosis of complex cases. Readers are strongly
advised to refer to the National Autism Plan for detailed guidance
(Table 2).
Currently, the main purpose of physical investigations,
such as genetic testing or brain scanning, in ASD is to aid
489 © 2008 Published by Elsevier Ltd.
 Child psychiatry and developmentAL disorders

ICD-10 criteria for research diagnoses within the autism spectrum (abbreviated)

Category Diagnostic criteria

Before age 3 Symptom domains

Autism – a diagnosis
requires a total of 6
symptoms from RSI,
COM and RRBI domains.
Diagnosis is excluded
if the presentation is
attributable to: another
PDD, specific
developmental disorder
of receptive language,
attachment disorder or
learning disability
Problems with ≥ 1 of:
(i) Language as used
in social communication
(ii) Development of
selective social
attachments /reciprocal
social interaction
(iii) Functional or
symbolic play
Reciprocal social
interaction (RSI)
≥ 2 of:
(i) Failure to use non-
verbal communication
to regulate social
interaction
(ii) Failure to develop
peer relationships that
involve a mutual
sharing of interests
and emotions
(iii) Lack of socio-
emotional reciprocity
(iv) Lack of spontaneous
seeking to share
enjoyment, interests
or achievements with
other people
Communication (COM)
≥ 1 of:
(i) A delay, or a total lack
of, development of spoken
language that is not
accompanied by an
attempt to compensate
through the use of non-
verbal communication
(ii) Relative failure to initiate
or sustain conversational
interchange in which there
is reciprocal responsiveness
to the other person
(iii) Stereotyped and
repetitive use of language
or idiosyncratic use of
words or phrases
(iv) Lack of varied
spontaneous make-believe
or social imitative play
Restricted repertoire of
behavioural interests (RRBI)
≥ 1 of:
(i) An encompassing
preoccupation with one
or more stereotyped and
restricted patterns of
interest
(ii) Apparently compulsive
adherence to specific,
non-functional routines or
rituals
(iii) Stereotyped and
repetitive motor
mannerisms
(iv) Preoccupations with
part-objects/non-functional
elements of play materials

Asperger’s syndrome No clinically significant Same as for autism Not required for diagnosis Same as for autism
(AS) – RSI and RRBI symptom general delay in spoken
requirements for are the or receptive language or
same as for autism except cognitive development
RRBI (iii) and (iv) are
rarely seen. Early motor
development may be delayed
and clumsiness is usual.
Diagnosis is excluded if the
presentation is attributable
to another PDD or mental
disorder (e.g. OCD)
Atypical autism − subtypes +/− abnormalities or A lack of sufficient demonstrable abnormalities in one or two of these three
defined by atypicality in: age impairments in domains as would be required for the diagnosis of autism
of onset, symptomatology, or development
both

ASD, autism spectrum disorder; LD, learning disability; PDD, pervasive developmental disorder; OCD, obsessive compulsive disorder.

Table 1

i­dentification of an underlying medical disorder. Whilst there

is some disagreement about exactly how and why to use such
tests,14 most would agree that all children should have a karyo-
type analysis carried out, and be tested for Fragile X syndrome.
Further genetic tests and structural magnetic resonance imag-
ing (sMRI) should be requested if there is evidence from history
or examination of a neurogenetic syndrome (e.g. severe learn-
ing disability, epilepsy, facial dysmorphology, neurocutaneous
stigmata).
Management
General principles
Generic aspects of any management plan should include
psycho-education, offering details of voluntary agencies and
­support groups, ensuring educational provision is ­ appropriate
and ­ making sure carers and teachers are able to tailor their
approach to the child in an ‘ASD-appropriate’ way pitching com-
munications at the right level and using non-verbal means of

MEDICINE 36:9 490 © 2008 Published by Elsevier Ltd.

 Child psychiatry and developmentAL disorders

Psychosocial
Simplified summary of recommended stages of There is insufficient data to draw any definitive conclusions about
autism spectrum disorder assessment process as the effectiveness and cost:benefit profile of psychosocial treat-
outlined in the National Autism Plan ments aimed at targeting the core features of ASD, although it is
generally felt that early behavioural interventions (EBI) have some
1 Identification of concerns benefits.15 However, there is a need to establish exactly which
Refer on for general developmental assessment components of EBI lead to improvements in symptomatology
and functioning, as well as the ideal intensity and setting within
2 General developmental assessment which EBI should be delivered. Work on psychosocial interven-
Content Output tions based on basic neuropsychological research in ASD has only
Clear identification of concerns Immediate feedback to family just begun.16 Learning theory based behavioural therapy can be
effective in the treatment of maladaptive ­behaviours in ASD.
Developmental History Opportunity for family to
discuss outcome Pharmacological
Examination Notify educational authority if There is some evidence that antipsychotic medications such as
indicated risperidone17 and selective serotonin reuptake inhibitor (SSRI)
drugs (e.g. fluoxetine) can be useful adjunctive treatments of
Investigations Place on special needs register
maladaptive or restricted and repetitive behaviours in ASD.
if appropriate
These treatments are not however without side effects (to which
If possible ASD - refer on for
people with ASD may be especially prone) and should only be
multi-agency assessment
used in specialist care (see also pages 501–504).18

3 Multi-agency assessment
Content
Gathering of all available
information
ASD specific developmental
history
Observational assessment
in >1 setting
Cognitive assessment
Output Prognosis
Diagnostic formulation
There is marked variability in long-term outcome in ASD, although
impairments of one form or another tend to persist into adult-
Assessment report hood. As a result, a significant proportion of children with ASD
remain dependent on others for support in adulthood. Those with
normal intelligence and/or functional speech by the age of 5 years
Feedback and discussion of
have the best outcomes,19 but the severity of social impairments
these with family
and repetitive behaviours are also relevant in prognosis. ◆
Genetic predisposition
counselling

Communication, speech and Facilitate access to local

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Practice points
• Autism is the prototypical form of a spectrum of disorders
that includes variants such as Asperger’s syndrome
• Autism spectrum disorder (ASD) is found in around 1% of
children
• ASD is associated with various indices of neurodevelopmental
abnormality such as macrocephaly, facial dysmorophology
and epilepsy
• Specific probably causal medical disorders are identified in a
significant minority of cases (currently investigation identifies
these conditions in approx 10% of cases)
• Early behavioural intervention programmes may improve
outcome, although autism spectrum disorder usually gives rise
to persisting difficulties
• Medication can be useful in treating comorbid disorders and
behavioural problems
492 © 2008 Published by Elsevier Ltd.