Child development

Autism spectrum
Bruce Tonge
Avril Brereton disorders
Autism spectrum disorders (ASDs) are serious
Background neurodevelopmental disorders affecting approximately
Autism spectrum disorders (ASDs) are serious
one in 160 Australians.1 In 1943, Kanner used the
neurodevelopmental disorders affecting approximately
word ‘autism’ to describe children who were unable to
one in 160 Australians. Symptoms are apparent during
the second year of life causing impairments in social relate to others, had delayed and disordered language,
interaction, communication and behaviour with restricted repetitive behaviours and a drive for sameness.2
and stereotyped interests. These three core symptoms have remained central
to the diagnosis of a group of disorders referred to as
Objective
‘pervasive developmental disorders’ (PDDs) described
To increase the general practitioner’s awareness of the
in both the Diagnostic and Statistical Manual of Mental
presenting symptoms of ASDs and their associated
problems in children, screening for ASDs, and the Disorders, 4th edition, text revised (DSM-IV-TR)3 and the
assessment process, treatment options and outcomes. International Classification of Diseases (ICD-10).4 In 1997,
Wing introduced the term ‘autism spectrum disorders’
Discussion
describing a continuum of conditions from aloof children
This article discusses the five red flags that are autism
through to ‘active but odd’ children who share an autistic
alerts in young children. These red flags can enable GPs
‘triad of impairments’.5 The term has since been used to
to play a key surveillance role in determining which young
children might require further screening and referral describe symptoms of severity, changes that occur with
for an ASD assessment. Because ASDs are lifelong, development and the associated range of intellectual
neurodevelopmental disorders and symptoms change over ability.6 In line with emerging international practice, in
time. Therefore the GP has an ongoing role to support, this article the term ‘autism spectrum disorders’ will
educate and advise parents, other carers and the individual refer to autistic disorder, Asperger disorder and pervasive
with an ASD. Treatment and pharmacological interventions developmental disorder not otherwise specified (PDD-
are also discussed. NOS) (atypical autism).
Keywords: autistic disorder; child developmental
disorders, pervasive
Autistic disorder
Diagnosis is clear by 30–36 months. However, symptoms are
apparent during the second year of life causing impairments in three
main areas of functioning:
• social interaction
• communication, and
• behaviour with restricted and stereotyped interests (Table 1).

Early signs of autistic disorder

Symptoms and developmental markers of autistic disorder emerge
during the first 2 years of life. Developmental problems before
the first birthday have been reported by parents, but the majority
express concerns regarding language development and social
relatedness by the age of 2 years.7,8 Early developmental differences
include failing to have an anticipatory posture, such as reaching out
to be picked up, and absent or reduced visual attention to social

672 Reprinted from Australian Family Physician Vol. 40, No. 9, SEPTEMBER 2011
Table 1. Core features of autistic disorder (autism) stimuli, smiling in response to others, vocalisation
and exploration of objects.8 Regression and
Impaired social interaction
loss of communication and social skills are also
Progressive abnormalities in interpersonal relationships
observed in 20–40% of cases.9 A recent Australian
• Reduced responsiveness to, or interest in, people; child may appear study of infants aged from 8 months found that
aloof and usually have an impaired ability to relate to others
surveillance of early signs of autism emerging by
• Impaired ability in nonverbal social relating, eg. impaired use of facial
age 18 months led to a diagnosis of an ASD at 24
expression, eye contact and difficulty with use of gestures such as
waving goodbye and pointing to indicate social interest months.10 Health professionals such as maternal
• The ability to make friends is absent or distorted and the child is and child health nurses and general practitioners
usually unable to engage in reciprocal social play with other children can play a key surveillance role in determining
• Difficulty understanding emotional expression; rarely develops age which young children might require further
appropriate empathy. Some social relating skills may develop over screening and referral for an ASD assessment. The
time, but these skills are usually restricted or abnormal five red flags,11 which are autism alerts in young
Delayed and disordered communication children, are listed in Table 2.
Stereotyped and repetitive use of language
Associated features
• Echolalia – the repetition of words and phrases (often out of context).
The child may immediately repeat words and phrases or repeat Associated features include unusual and restricted
previously heard favourite phrases, such as advertising jingles or diet, sleep disturbance, difficulty regulating
dialogue from movies
emotions and self injurious behaviour. Sensory
• Repetitive questioning and rituals and the creation of own words for
and perceptual abnormalities are also common,
objects and people (neologisms)
including sensitivity to sound and smell, lack of
• Literal understanding of spoken language and poor understanding of
sarcasm, metaphors or irony response to pain, and preoccupation with visual
Difficulties with the social use of language or tactile stimulation. These features are not
• Unable to initiate or sustain a conversation specific to children with autism and may occur in
• Speaking too loudly or too softly for the context and using an unusual association with intellectual disability.
accent or tone
Intellectual ability
Lack of a range of varied, spontaneous social imitative or
pretend play The majority of children with autistic disorder
• Older children may engage in what appears to be imaginative play, have an intellectual disability. Approximately 50%
however it is usually the repetition of learned activities or scenes from have severe intellectual disability and 30% mild
favourite movies to moderate disability. The remaining 20% have
Ritualistic and stereotyped interests and behaviours intellectual abilities in the normal range and are
Preoccupations which are intense and focused referred to as having ‘high functioning autism’
Fascination with dinosaurs, football fixtures or weather forecasts and (HFA). Cognitive assessment usually reveals a
repeated questioning or talking in a monologue about favourite topics, scatter of abilities with more difficulty in verbal
even if the context is inappropriate
and language skills and better performance in
Nonfunctional rituals and rigid routines
visual motor activities.
Repetitive play – lining up, stacking or sorting objects by colour or
shape; lacking imagination and social elaboration with distress if play is Asperger disorder
interrupted or the child is asked to move on to another activity
Children with Asperger disorder (AD) are
Resistance to change in routine or environment. For example, the child
may become extremely distressed if there is a new teacher at school, differentiated from children with autistic disorder
if furniture in the house is rearranged or if the child needs to wear new because they do not have a delayed receptive and
clothes or shoes expressive language development or cognitive
The child may try to control the play of other children and rigidly apply development. In common with children with
their own inflexible version of the rules autistic disorder, children with AD have clinically
Repetitive motor mannerisms significant impairment in their social interactions
Hand flapping, finger flicking, tiptoe walking and social communication and restricted,
Preoccupation with parts of objects repetitive and stereotype patterns of behaviour
Visually attentive, eg. closely watching spinning wheels, fascination and interests. They may not come to clinical
with shadows or reflections and studying collected objects such as
attention until they are at preschool or primary
stones or bottle-tops
school when their social difficulties and rigid, odd

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 Autism spectrum disorders FOCUS

and repetitive behaviours become more noticeable and problematic. with an ASD. There are no cures and best practice treatment comprises
The key factor differentiating AD from HFA is language development, interventions tailored to help the individual with an ASD to adapt as
as those with HFA have delayed and disordered language. effectively as possible to their environment.17
Despite clear differentiating diagnostic criteria, confusion and Because of the serious and chronic nature of ASDs parents are
debate continues regarding whether or not AD constitutes a separate understandably prey to claims of scientifically unsubstantiated and
disorder. A proposed fifth revision of the DSM will specify only ASD, usually expensive treatment. There is emerging evidence that a
manifest as delays and abnormalities in social interactions and the multimodal program of early intervention tailored to address the profile
presence of rigid and repetitive behaviours. Asperger disorder will of symptoms and abilities of each child is more likely to promote
no longer be specified as a separate disorder and the nature of any development, improve behaviour and reduce stress experienced by
language disorder and profile of intellectual abilities will need to the child and their family.18–20 For example, communication and social
be separately described.12 This debate highlights the continuing skills can be enhanced by the use of visual prompts such as picture
necessity to describe the full range of symptoms, developmental scripts. Timetables and specific social skills can be taught using social
features, language ability and profile of cognitive skills in order to behaviour scripts, and for higher functioning children, role play, video
plan an appropriate management program and provide a baseline to modelling and social stories. Common elements of an effective early
monitor outcome. intervention program for children with an ASD are listed in Table 3.

Screening and assessment Behavioural therapy

General practitioners can use several instruments to screen for an There is some evidence that daily intensive behavioural therapy may
ASD. These include: have positive benefit, particularly with cognitive skills, but there is
• the modified checklist for autism in toddlers (M-CHAT), a parent- considerable variability in outcome and this intervention is not effective
completed checklist screening for autism for children aged 16–30 for some children with an ASD.21,22 Sensory integration training, based
months;13 and on the theory that functional performance deficits are due to problems
• the developmental behaviour checklist (DBC), a parent-completed with processing sensory information, is widely promoted but does
questionnaire of emotional and behavioural problems that includes
an autism screening algorithm for children aged 4–18 years14 and Table 2. Early developmental surveillance. Red
also younger children aged 18–48 months.15 flags for an ASD13
A positive screen for autism is not diagnostic, but indicates that • Does not babble or coo by 12 months of age
referral to a paediatrician, child psychiatrist or autism assessment • Does not gesture (point, wave, grasp) by 12 months of
team is necessary. age
Multidisciplinary assessment of development/cognition, language, • Does not say single words by 16 months of age
play skills and sensory sensitivities contribute essential information • Does not say two-word phrases on his or her own
to help with planning appropriate management and early intervention. (rather than just repeating what someone says to him
or her) by 24 months of age
As part of the Australian Federal Government’s ‘Helping Children
• Has any loss of any language or social skill at any age
with Autism Early Intervention Funding Program’, specialist Medicare
ASD diagnosis numbers and psychology and allied health Medicare
assessment item numbers are available.16 This funding initiative assists Table 3. Common elements of effective early
families and carers of children aged 0–6 years diagnosed with an ASD intervention programs for children with ASDs
and provides $12 000 funding. The eligibility criteria documentation • An autism specific curriculum focusing on
requires a copy of a definitive statement of diagnosis of a pervasive communication, attention to task, the development of
developmental disorder as classified by the DSM-IV (ie. autistic disorder, social, play, self help and motor skills and the training
Asperger disorder, PDD-NOS , Rett disorder or childhood disintegrative and modification of behaviour
disorder). The diagnosis cannot be suggestive, indicative or provisional. • Supportive and aid assisted environments that are
structured and predictable and which help manage
The definitive diagnosis must be made by a paediatrician,
emotional and behavioural problems such as anxiety,
psychiatrist or a multidisciplinary team including a psychologist, rituals and resistance to change
speech pathologist and occupational therapist. • A comprehensive support plan for children in
transition, eg. from preschool to primary school
After the diagnosis – the role of the GP • The inclusion of parents as collaborative partners in
and treatment the planning and implementation of interventions
Autism spectrum disorders are life-time neurodevelopmental disorders • Education and skills training for parents, access to
and symptoms change over time. The GP has an ongoing role to parent support groups and the provision of respite
support, educate and advise parents, other carers and the individual care services and family support

Reprinted from Australian Family Physician Vol. 40, No. 9, SEPTEMBER 2011 675
 FOCUS Autism spectrum disorders

not currently have sufficient evidence to support its use as a primary impairments in social interaction, communication and behaviour
intervention method in ASDs. Specific sensory integration interventions with restricted and stereotyped interests.
such as the use of weighted vests and auditory integration training • GPs can play a key surveillance role in determining which
have been shown in empirical studies to be ineffective or even lead to children might require further screening and referral for an ASD
deterioration in some children.23 assessment.
• Red flags for autism are: does not babble or coo by 12 months of
Diet therapy
age; does not gesture by 12 months; does not say single words
There is no empirical evidence that diet or other mineral and/or vitamin by 16 months; has any loss of any language or social skill at any
supplements are effective treatment. If a child has a lactose intolerance age; and does not say two-word phrases on his or her own by 24
or gluten enteropathy, treatment with an appropriate diet is likely to months of age.
lead to some improvement in behaviour and relief of discomfort. • There is emerging evidence that a multimodal program of early
intervention, including parent education, tailored to address the
Medication
profile of symptoms and abilities of each child is more likely
There is no specific medication for the treatment of autism. Medication to promote development, improve behaviour and reduce stress
may have a role in the treatment of associated emotional and behavioural experienced by the child and their family.
problems such as anxiety and depression. Anxiety is a common comorbid • Autism spectrum disorders are also associated with other mental
condition in individuals of all ages with an ASD. Depressive illness health problems such as anxiety, depression and ADHD, which
becomes more prevalent in adolescents with an ASD, perhaps in response need to be the focus of targeted management.
to the development of insight into their difficulties, increased educational • The GP has an ongoing role to support, educate and advise
and social pressure and because of a potential increased genetic parents, other carers and the individual with an ASD.
vulnerability in those with a family history of depression.24
Management of anxiety and depression includes altering the Resource
Factsheets on ASDs, including M-ChAT, the Developmental Behaviour
environment to reduce stress and anxiety, creating the experience of
Checklist, and early signs are available at www.med.monash.edu.au/
successful achievement at school, psychological treatments such as spppm/research/devpsych/actnow.
cognitive behavioural therapy modified to take account of the child’s
cognitive abilities, and the use of the selective serotonin reuptake Authors
inhibitor (SSRI) fluoxetine in some cases. Bruce Tonge MBBS, MD, DPM, MRCPsych, CertChildPsych, FRANZCP,
is Head, Discipline of Psychiatry, School of Psychology and Psychiatry,
Risperidone in low doses has been shown to be effective in the
Monash University, Melbourne, Victoria. bruce.tonge@monash.edu
treatment of disruptive, aggressive and self injurious behaviour in
Avril Brereton BEd, DipEd, PhD, is Senior Research Fellow, School of
children with an ASD25 but should only be initiated by a specialist
Psychology and Psychiatry, Monash University, Melbourne, Victoria.
paediatrician or child psychiatrist because of potentially serious
side effects such as dystonic reactions, weight gain and risk of Conflict of interest: none declared.
development of a metabolic disorder. Increased risk of epilepsy is
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