Autism spectrum disorder in childhood 001
Child psyChiatry and developmental disorders
Autism spectrum disorder
in childhood
What’s new?
• there is postnatal brain overgrowth in the irst three years
armin raznahan
• submicroscopic, structural chromosomal copy number variants
are associated with autism
patrick Bolton
• there is no good evidence that mmr vaccine plays a role in
aetiology
Abstract
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 diagnostic 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.
the term autism spectrum disorder (asd) refers to a group of childhood 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 identiies 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.
Aetiology
Autism shows the highest heritability estimates of any psychiatric disorder (approximately 90%). The genetic inluences are
complex, and so far no common genetic variants of major effect
have been identiied. 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 identiied.4
In approximately 10–15% of ASD cases, a primary medical
disorder can be identiied (e.g. tuberous sclerosis, Fragile X
syndrome). The remainder of cases are considered ‘idiopathic’
and thought to relect 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 behaviour 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 speciic brain
regions (fronto-temporal cortices, limbic system, basal ganglia
and cerebellum).7,8
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
proile and symptom severity. Diagnostic criteria, important differential diagnoses, comorbid disorders and associated features
are shown in Table 1. A key feature of ASD is its marked variability in presentation. This greatly impacts on academic and clinical
approaches to ASD.
Assessment
Epidemiology
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 beneits of diagnostic assessment being carried out in a multidisciplinary 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
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 fulil 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
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
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, speciic
developmental disorder
of receptive language,
attachment disorder or
learning disability
Asperger’s syndrome
(AS) – rsi and rrBi symptom
requirements for are the
same as for autism except
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
deined by atypicality in: age
of onset, symptomatology, or
both
problems with ≥ 1 of:
reciprocal social
interaction (rsi)
≥ 2 of:
Symptom domains
Communication (Com)
≥ 1 of:
restricted repertoire of
behavioural interests (rrBi)
≥ 1 of:
(i) language as used
in social communication
(ii) development of
selective social
attachments /reciprocal
social interaction
(iii) Functional or
symbolic play
(i) Failure to use nonverbal communication
to regulate social
interaction
(ii) Failure to develop
peer relationships that
involve a mutual
sharing of interests
and emotions
(iii) lack of socioemotional reciprocity
(iv) lack of spontaneous
seeking to share
enjoyment, interests
or achievements with
other people
(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 nonverbal 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
(i) an encompassing
preoccupation with one
or more stereotyped and
restricted patterns of
interest
(ii) apparently compulsive
adherence to speciic,
non-functional routines or
rituals
(iii) stereotyped and
repetitive motor
mannerisms
(iv) preoccupations with
part-objects/non-functional
elements of play materials
no clinically signiicant
general delay in spoken
or receptive language or
cognitive development
same as for autism
not required for diagnosis
same as for autism
+/− abnormalities or
impairments in
development
a lack of suficient demonstrable abnormalities in one or two of these three
domains as would be required for the diagnosis of autism
asd, autism spectrum disorder; ld, learning disability; pdd, pervasive developmental disorder; oCd, obsessive compulsive disorder.
Table 1
identiication 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 karyotype analysis carried out, and be tested for Fragile X syndrome.
Further genetic tests and structural magnetic resonance imaging (sMRI) should be requested if there is evidence from history
or examination of a neurogenetic syndrome (e.g. severe learning disability, epilepsy, facial dysmorphology, neurocutaneous
stigmata).
mediCine 36:9
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 communications at the right level and using non-verbal means of
490
© 2008 published by elsevier ltd.
Child psyChiatry and developmental disorders
Psychosocial
There is insuficient data to draw any deinitive conclusions about
the effectiveness and cost:beneit proile of psychosocial treatments aimed at targeting the core features of ASD, although it is
generally felt that early behavioural interventions (EBI) have some
beneits.15 However, there is a need to establish exactly which
components of EBI lead to improvements in symptomatology
and functioning, as well as the ideal intensity and setting within
which EBI should be delivered. Work on psychosocial interventions based on basic neuropsychological research in ASD has only
just begun.16 Learning theory based behavioural therapy can be
effective in the treatment of maladaptive behaviours in ASD.
Simplified summary of recommended stages of
autism spectrum disorder assessment process as
outlined in the National Autism Plan
1 Identification of concerns
refer on for general developmental assessment
2 General developmental assessment
Content
Output
Clear identiication of concerns immediate feedback to family
developmental history
opportunity for family to
discuss outcome
examination
notify educational authority if
indicated
investigations
place on special needs register
if appropriate
If possible ASD - refer on for
multi-agency assessment
3 Multi-agency assessment
Content
Gathering of all available
information
Pharmacological
There is some evidence that antipsychotic medications such as
risperidone17 and selective serotonin reuptake inhibitor (SSRI)
drugs (e.g. luoxetine) can be useful adjunctive treatments of
maladaptive or restricted and repetitive behaviours in ASD.
These treatments are not however without side effects (to which
people with ASD may be especially prone) and should only be
used in specialist care (see also pages 501–504).18
Prognosis
Output
diagnostic formulation
asd speciic developmental
history
assessment report
observational assessment
in >1 setting
Feedback and discussion of
these with family
Cognitive assessment
Genetic predisposition
counselling
Communication, speech and
language assessment
Facilitate access to local
support groups/ agencies
Behaviour and mental health
assessment
provision of information
regarding local educational
authority provision
Family assessment
Begin needs-based planning of
treatment
physical examination
If diagnosis uncertain refer for
tertiary assessment
There is marked variability in long-term outcome in ASD, although
impairments of one form or another tend to persist into adulthood. As a result, a signiicant 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
have the best outcomes,19 but the severity of social impairments
and repetitive behaviours are also relevant in prognosis.
◆
REFERENCES
1 World health organization. mental disorders; a glossary and guide
to their classiication in accordance with the 10th revision of the
international classiication of diseases-research diagnostic criteria
(iCd-10). Geneva: Who, 1993.
2 Baird G, simonoff e, pickles a, et al. prevalence of disorders of
the autism spectrum in a population cohort of children in south
thames: the special needs and autism project (snap). Lancet 2006;
368: 210–15.
3 Wazana a, Bresnahan m, Kline J. the autism epidemic: fact or
artifact? J Am Acad Child Adolesc Psychiatry 2007; 46: 721–30.
4 rutter m. aetiology of autism: indings and questions. J Intellect
Disabil Res 2005; 49: 231–38.
5 ronald a, happe F, Bolton p, et al. Genetic heterogeneity between
the three components of the autism spectrum: a twin study. J Am
Acad Child Adolesc Psychiatry 2006; 45: 691–99.
6 sebat J, lakshmi B, malhotra d, et al. strong association of de novo
copy number mutations with autism. Science 2007; 316: 445–49.
7 Geschwind dh, levitt p. autism spectrum disorders: developmental
disconnection syndromes. Curr Opin Neurobiol 2007; 17: 103–11.
8 palmen sJ, van engeland h. review on structural neuroimaging
indings in autism. J Neural Transm 2004; 111: 903–29.
9 Johnson Cp, myers sm, the Council on Children With disabilities.
identiication and evaluation of children with autism spectrum
disorders. Pediatrics 2007; 120: 1183–215.
medical investigations
4 Tertiary ASD assessment
asd, autism spectrum disorder. see www.nas.org.uk for full details.
Table 2
communicating if appropriate, fostering social skills, establishing
structure in daily routines, being aware of sensory sensitivities.
On a wider level there is a need to promote people’s understanding of ASD in order to reduce stigma in school, work and the
community.
mediCine 36:9
491
© 2008 published by elsevier ltd.
Child psyChiatry and developmental disorders
10 le Couteur a. national autism plan for Children (napC), plan for
the identiication, assessment, diagnosis and access to early
interventions for pre-school and primary school aged children with
autism spectrum disorders (asd). london: the national autistic
society for niasa in collaboration with the royal College of
psychiatrists, the royal College of paediatrics and Child health and
the all party parliamentary Group on autism, 2003.
11 Charman t, Baird G, simonoff e, et al. eficacy of three screening
instruments in the identiication of autism spectrum disorder. Br J
Psychiatry 2007; 191: 554–59.
12 lord C, rutter m, leCouteur a. autism diagnostic interview-revised:
a revised version of a diagnostic interview for caregivers of
individuals with possible pervasive developmental disorders.
J Autism Dev Disord 1994; 24: 659–85.
13 lord C, risi s, lambrecht l, et al. the autism diagnostic observation
schedule-generic: a standard measure of social and communication
deicits associated with the spectrum of autism. J Autism Dev Disord
2000; 30: 205–23.
14 schaefer GB, mendelsohn nJ. Genetics evaluation for the etiologic
diagnosis of autism spectrum disorders. Genet Med 2008; 10: 4–12.
15 magiati i, Charman t, howlin p. a two-year prospective follow-up
study of community-based early intensive behavioural intervention
and specialist nursery provision for children with autism spectrum
disorders. J Child Psychol Psychiatry 2007; 48: 803–12.
16 aldred C, Green J, adams C. a new social communication
intervention for children with autism: pilot randomised controlled
treatment study suggesting effectiveness. J Child Psychol Psychiatry
2004; 45: 1420–30.
17 mcCracken Jt, mcGough J, shah B, et al. risperidone in children
with autism and serious behavioral problems. N Engl J Med 2002; 347:
314–21.
mediCine 36:9
18 malone rp, Gratz ss, delaney ma, hyman sB. advances in drug
treatments for children and adolescents with autism and other
pervasive developmental disorders. CNS Drugs 2005; 19: 923–34.
19 howlin p, Goode s, hutton J, rutter m. adult outcome for children
with autism. J Child Psychol Psychiatry Allied Disciplines 2004; 45:
212–29.
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
• speciic probably causal medical disorders are identiied in a
signiicant minority of cases (currently investigation identiies
these conditions in approx 10% of cases)
• early behavioural intervention programmes may improve
outcome, although autism spectrum disorder usually gives rise
to persisting dificulties
• medication can be useful in treating comorbid disorders and
behavioural problems
492
© 2008 published by elsevier ltd.
Autism spectrum disorder
in childhood
What’s new?
• there is postnatal brain overgrowth in the irst three years
armin raznahan
• submicroscopic, structural chromosomal copy number variants
are associated with autism
patrick Bolton
• there is no good evidence that mmr vaccine plays a role in
aetiology
Abstract
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 diagnostic 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.
the term autism spectrum disorder (asd) refers to a group of childhood 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 identiies 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.
Aetiology
Autism shows the highest heritability estimates of any psychiatric disorder (approximately 90%). The genetic inluences are
complex, and so far no common genetic variants of major effect
have been identiied. 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 identiied.4
In approximately 10–15% of ASD cases, a primary medical
disorder can be identiied (e.g. tuberous sclerosis, Fragile X
syndrome). The remainder of cases are considered ‘idiopathic’
and thought to relect 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 behaviour 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 speciic brain
regions (fronto-temporal cortices, limbic system, basal ganglia
and cerebellum).7,8
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
proile and symptom severity. Diagnostic criteria, important differential diagnoses, comorbid disorders and associated features
are shown in Table 1. A key feature of ASD is its marked variability in presentation. This greatly impacts on academic and clinical
approaches to ASD.
Assessment
Epidemiology
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 beneits of diagnostic assessment being carried out in a multidisciplinary 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
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 fulil 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
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
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, speciic
developmental disorder
of receptive language,
attachment disorder or
learning disability
Asperger’s syndrome
(AS) – rsi and rrBi symptom
requirements for are the
same as for autism except
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
deined by atypicality in: age
of onset, symptomatology, or
both
problems with ≥ 1 of:
reciprocal social
interaction (rsi)
≥ 2 of:
Symptom domains
Communication (Com)
≥ 1 of:
restricted repertoire of
behavioural interests (rrBi)
≥ 1 of:
(i) language as used
in social communication
(ii) development of
selective social
attachments /reciprocal
social interaction
(iii) Functional or
symbolic play
(i) Failure to use nonverbal communication
to regulate social
interaction
(ii) Failure to develop
peer relationships that
involve a mutual
sharing of interests
and emotions
(iii) lack of socioemotional reciprocity
(iv) lack of spontaneous
seeking to share
enjoyment, interests
or achievements with
other people
(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 nonverbal 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
(i) an encompassing
preoccupation with one
or more stereotyped and
restricted patterns of
interest
(ii) apparently compulsive
adherence to speciic,
non-functional routines or
rituals
(iii) stereotyped and
repetitive motor
mannerisms
(iv) preoccupations with
part-objects/non-functional
elements of play materials
no clinically signiicant
general delay in spoken
or receptive language or
cognitive development
same as for autism
not required for diagnosis
same as for autism
+/− abnormalities or
impairments in
development
a lack of suficient demonstrable abnormalities in one or two of these three
domains as would be required for the diagnosis of autism
asd, autism spectrum disorder; ld, learning disability; pdd, pervasive developmental disorder; oCd, obsessive compulsive disorder.
Table 1
identiication 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 karyotype analysis carried out, and be tested for Fragile X syndrome.
Further genetic tests and structural magnetic resonance imaging (sMRI) should be requested if there is evidence from history
or examination of a neurogenetic syndrome (e.g. severe learning disability, epilepsy, facial dysmorphology, neurocutaneous
stigmata).
mediCine 36:9
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 communications at the right level and using non-verbal means of
490
© 2008 published by elsevier ltd.
Child psyChiatry and developmental disorders
Psychosocial
There is insuficient data to draw any deinitive conclusions about
the effectiveness and cost:beneit proile of psychosocial treatments aimed at targeting the core features of ASD, although it is
generally felt that early behavioural interventions (EBI) have some
beneits.15 However, there is a need to establish exactly which
components of EBI lead to improvements in symptomatology
and functioning, as well as the ideal intensity and setting within
which EBI should be delivered. Work on psychosocial interventions based on basic neuropsychological research in ASD has only
just begun.16 Learning theory based behavioural therapy can be
effective in the treatment of maladaptive behaviours in ASD.
Simplified summary of recommended stages of
autism spectrum disorder assessment process as
outlined in the National Autism Plan
1 Identification of concerns
refer on for general developmental assessment
2 General developmental assessment
Content
Output
Clear identiication of concerns immediate feedback to family
developmental history
opportunity for family to
discuss outcome
examination
notify educational authority if
indicated
investigations
place on special needs register
if appropriate
If possible ASD - refer on for
multi-agency assessment
3 Multi-agency assessment
Content
Gathering of all available
information
Pharmacological
There is some evidence that antipsychotic medications such as
risperidone17 and selective serotonin reuptake inhibitor (SSRI)
drugs (e.g. luoxetine) can be useful adjunctive treatments of
maladaptive or restricted and repetitive behaviours in ASD.
These treatments are not however without side effects (to which
people with ASD may be especially prone) and should only be
used in specialist care (see also pages 501–504).18
Prognosis
Output
diagnostic formulation
asd speciic developmental
history
assessment report
observational assessment
in >1 setting
Feedback and discussion of
these with family
Cognitive assessment
Genetic predisposition
counselling
Communication, speech and
language assessment
Facilitate access to local
support groups/ agencies
Behaviour and mental health
assessment
provision of information
regarding local educational
authority provision
Family assessment
Begin needs-based planning of
treatment
physical examination
If diagnosis uncertain refer for
tertiary assessment
There is marked variability in long-term outcome in ASD, although
impairments of one form or another tend to persist into adulthood. As a result, a signiicant 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
have the best outcomes,19 but the severity of social impairments
and repetitive behaviours are also relevant in prognosis.
◆
REFERENCES
1 World health organization. mental disorders; a glossary and guide
to their classiication in accordance with the 10th revision of the
international classiication of diseases-research diagnostic criteria
(iCd-10). Geneva: Who, 1993.
2 Baird G, simonoff e, pickles a, et al. prevalence of disorders of
the autism spectrum in a population cohort of children in south
thames: the special needs and autism project (snap). Lancet 2006;
368: 210–15.
3 Wazana a, Bresnahan m, Kline J. the autism epidemic: fact or
artifact? J Am Acad Child Adolesc Psychiatry 2007; 46: 721–30.
4 rutter m. aetiology of autism: indings and questions. J Intellect
Disabil Res 2005; 49: 231–38.
5 ronald a, happe F, Bolton p, et al. Genetic heterogeneity between
the three components of the autism spectrum: a twin study. J Am
Acad Child Adolesc Psychiatry 2006; 45: 691–99.
6 sebat J, lakshmi B, malhotra d, et al. strong association of de novo
copy number mutations with autism. Science 2007; 316: 445–49.
7 Geschwind dh, levitt p. autism spectrum disorders: developmental
disconnection syndromes. Curr Opin Neurobiol 2007; 17: 103–11.
8 palmen sJ, van engeland h. review on structural neuroimaging
indings in autism. J Neural Transm 2004; 111: 903–29.
9 Johnson Cp, myers sm, the Council on Children With disabilities.
identiication and evaluation of children with autism spectrum
disorders. Pediatrics 2007; 120: 1183–215.
medical investigations
4 Tertiary ASD assessment
asd, autism spectrum disorder. see www.nas.org.uk for full details.
Table 2
communicating if appropriate, fostering social skills, establishing
structure in daily routines, being aware of sensory sensitivities.
On a wider level there is a need to promote people’s understanding of ASD in order to reduce stigma in school, work and the
community.
mediCine 36:9
491
© 2008 published by elsevier ltd.
Child psyChiatry and developmental disorders
10 le Couteur a. national autism plan for Children (napC), plan for
the identiication, assessment, diagnosis and access to early
interventions for pre-school and primary school aged children with
autism spectrum disorders (asd). london: the national autistic
society for niasa in collaboration with the royal College of
psychiatrists, the royal College of paediatrics and Child health and
the all party parliamentary Group on autism, 2003.
11 Charman t, Baird G, simonoff e, et al. eficacy of three screening
instruments in the identiication of autism spectrum disorder. Br J
Psychiatry 2007; 191: 554–59.
12 lord C, rutter m, leCouteur a. autism diagnostic interview-revised:
a revised version of a diagnostic interview for caregivers of
individuals with possible pervasive developmental disorders.
J Autism Dev Disord 1994; 24: 659–85.
13 lord C, risi s, lambrecht l, et al. the autism diagnostic observation
schedule-generic: a standard measure of social and communication
deicits associated with the spectrum of autism. J Autism Dev Disord
2000; 30: 205–23.
14 schaefer GB, mendelsohn nJ. Genetics evaluation for the etiologic
diagnosis of autism spectrum disorders. Genet Med 2008; 10: 4–12.
15 magiati i, Charman t, howlin p. a two-year prospective follow-up
study of community-based early intensive behavioural intervention
and specialist nursery provision for children with autism spectrum
disorders. J Child Psychol Psychiatry 2007; 48: 803–12.
16 aldred C, Green J, adams C. a new social communication
intervention for children with autism: pilot randomised controlled
treatment study suggesting effectiveness. J Child Psychol Psychiatry
2004; 45: 1420–30.
17 mcCracken Jt, mcGough J, shah B, et al. risperidone in children
with autism and serious behavioral problems. N Engl J Med 2002; 347:
314–21.
mediCine 36:9
18 malone rp, Gratz ss, delaney ma, hyman sB. advances in drug
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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
• speciic probably causal medical disorders are identiied in a
signiicant minority of cases (currently investigation identiies
these conditions in approx 10% of cases)
• early behavioural intervention programmes may improve
outcome, although autism spectrum disorder usually gives rise
to persisting dificulties
• medication can be useful in treating comorbid disorders and
behavioural problems
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© 2008 published by elsevier ltd.