Autism Spectrum
Disorders
Dr Avril V Brereton
What is Autism?
Background
American psychiatrist Dr. Leo Kanner first described
the core features of autism in his paper of 1943 in
which eleven children with ‘autistic disturbances of
affective contact’ showed a distinctive pattern of
symptoms: inability to relate to people and situations;
failure to use language for the purpose of
communication; and obsessive desire for the
maintenance of sameness in the environment
(Kanner, 1943). All children with autism show a
characteristic triad of impairments in social
interaction, language and behavioural difficulties with
repetitive and restricted patterns of interest and
activities.
1. Social interaction
One of the key features of autism is abnormal
interpersonal relationships. Children with autism
often show a reduced responsiveness to or interest in
people, an appearance of aloofness and a limited or
impaired ability to relate to others. Children with
autism usually show very little variation in facial
expression, have abnormal eye contact and tend not
to engage in social imitation, such as waving bye-bye
and pat-a-cake games. They rarely develop ageappropriate empathy or the ability to understand that
other people have feelings. Although children with
autism do develop some social relating skills, these
skills are usually restricted or abnormal. Their ability
to make friends is absent or distorted and they are
usually unable to play reciprocally with other children.
2. Communication
Children with autism usually have quite delayed and
unusual speech. Approximately 50 per cent of children
with autism will eventually have useful speech.
Children with autism also have an impaired ability to
use gesture.
In those children who do develop language, the tone,
pitch and modulation of speech is often odd and the
voice may sound mechanical or flat in quality. Some
Autism Friendly Learning: What is Autism?
children speak in whispers or too loudly and some
speak in an unusual accent. Echolalia, the immediate
repetition of what has just been said or the delayed
repetition of phrases, is common. Some children
repeat advertising jingles or large pieces of dialogue
from videos, perhaps days later, for no apparent
reason. Their understanding of spoken language is
often literal and they do not understand metaphors
such as “shake a leg”.
Some children with autism develop a wide vocabulary
and expressive verbal skills, however, even they have
difficulty with the pragmatic or social use of language.
They have impaired ability to initiate conversation and
maintain the “to and fro” of a conversation.
3. Ritualistic
and stereotyped interests or
behaviours
Ritualistic and compulsive behaviours are common,
such as lining up toys and having rigid routines for
daily activities. There is often a resistance to change
in routine or the environment so that the child may
become extremely distressed if a new route is taken
to school, furniture in the house is rearranged or the
child is asked to wear new clothes. Hand and finger
mannerisms and repetitive body movements, such as
hand flapping or tip-toe walking, are common. There
is often a fascination with movement of objects, such
as spinning wheels. Children may look closely at the
fine detail of an object such as the edge of a table or
spokes on a wheel, or collect objects such as buttons
or twigs. Many children with autism, especially in
middle to late childhood, have unusual preoccupations that they follow to the exclusion of other
activities. These may involve a fascination with bus
routes or train timetables in association with
repeatedly asking questions to which specific answers
must be given.
In addition, children with autism usually have rigid
and limited play, with a noticeable lack of imagination
and creativity. They may repetitively line up toys, sort
by colour, or collect various objects such as pieces of
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string or objects of a certain colour or shape. Intense
attachment to these objects can occur with the child
showing great distress if these objects are taken away
or the patterns are disrupted.
Older children may develop play that superficially
appears to be creative, such as re-enacting the day at
school with dolls or acting out scenes from favourite
videos. Observation of this type of play over time
often reveals a highly repetitive scenario that does
not change and cannot be interrupted. Children with
autism rarely involve other children in their play,
unless they are given a particular role in a situation in
which the autistic child is in control and makes the
rules.
What is Asperger's Disorder?
Background
One year after Leo Kanner’s original paper on autism,
Hans Asperger published a paper in 1944 that formed
the basis of what was to become known as Asperger’s
disorder. Both Kanner and Asperger trained in
medicine in Vienna, but unlike Kanner, who moved to
the USA, Asperger remained working in Europe.
Asperger and Kanner were apparently unaware of
each other’s work, probably because of World War II.
Asperger’s paper remained relatively unknown as it
was published in German and was not widely available
in translation.
Asperger’s paper described a group of children and
adolescents who had deficits in communication and
social skills, had obsessional interests and behaviour,
disliked change and had a dependence on rituals and
routines. In addition many were physically clumsy.
Unlike the children described by Kanner, the children
in Asperger’s paper generally had no significant delays
in early cognitive or language development. Asperger
described this condition as “autistic psychopathy”
(Asperger, 1944).
There has been increasing interest in Hans Asperger
and his syndrome over the past twenty years. In the
early nineties, Asperger’s paper was translated by
Frith (Frith, 1991) and became more widely available.
Since that time Asperger’s disorder has been more
frequently used to describe a group of children who
presented with developmental deficits in social skills
and behaviour but were difficult to classify.
Is it different from Autism?
For the past decade or so there has been a continuing
debate as to whether or not Asperger’s disorder is a
type of autism or whether it constitutes a separate
Autism Friendly Learning: What is Autism?
disorder. Many publications have tried to delineate
the boundaries, if any, between autism and Asperger’s
disorder. Despite the differences that can be seen
when looking at the original cases described by both
Kanner and Asperger, there is continuing confusion
over the diagnostic criteria for Asperger’s disorder,
particularly as subsequent accounts and case studies
have not necessarily adhered to the criteria suggested
by Asperger himself. The principal areas of
inconsistency relate to early development in the areas
of cognition, motor skills and language.
Parents of young children with autism often recognise
problems with behaviour and in particular, language
development by about 18 months to two years of age.
Because children with Asperger’s disorder do not have
delayed early language, or problems with cognitive
development, there are few early signs that all is not
well. It is more usual for parents to become
concerned about their child’s emerging unusual or
odd behaviour and social development but these tend
to be identified later, usually from about 3 to 4 years
of age. Diagnosis of Asperger’s disorder may not occur
until the child has attended pre-school or some other
early childhood setting such as crèche. This is
probably because the child’s social and behavioural
problems become more noticeable when the child is
seen with peers in a more structured social setting
where there are more demands for social interaction.
There is widespread agreement that genetic factors
predominate as the primary cause of Asperger’s
disorder. Asperger himself noted that in all cases
where he studied the family closely, similar traits
were found to some degree in parents and other
family members. Later studies have found similar
autistic traits in the relatives of young people with
Asperger’s disorder.
Some examples of how Asperger’s disorder affects
children:
 Acquisition of language follows a normal or even
accelerated pattern, but content of speech is
abnormal - pedantic, and may centre on one or
two favoured topics.
 Little facial expression, vocal intonation may be
monotonous and tone may be inappropriate.
 Impairment in two-way social interaction
including an inability to understand the rules
governing social behaviour. May be easily led.
 Problems with social comprehension despite
superior verbal skills.
 Very rigid, prefer structure.
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



Well-developed verbal memory skills, absorb facts
easily, generally good level of performance at
maths and science.
Highly anxious with a dislike of any form of
criticism or imperfection.
Most attend mainstream schools and are often
victims of teasing which causes withdrawal into
isolated activities.
Are seen to be “odd” or “eccentric”.
What is Pervasive Development
Disorder – Not Otherwise Specified?
Background
This diagnosis is used when other diagnostic criteria
are not met. For example children who do not fit
diagnostic criteria because of age of onset or who do
not have the key symptoms described for other PDD
diagnoses. This category is somewhat open to
interpretation by clinicians because of the lack of
clear criteria. Despite this, it is generally used to
describe children such as those who may have global
developmental delay and some symptoms of autism,
or who fail to meet the strict criteria for autism.
Children diagnosed with PDD-NOS must meet the
criteria for severe and pervasive impairment in:
reciprocal social interaction associated with impaired
verbal or non verbal communication skills or with the
presence of stereotyped behaviour, interests and
activities (DSM-IV, APA, 1994).
Assessment and diagnosis
In 1980, the American Psychiatric Association’s
Diagnostic and Statistical Manual (DSM-III) introduced
the diagnostic term: Pervasive Developmental
Disorder (PDD) to cover a group of disorders of
development including autism which presented with
abnormalities and impaired functioning across the
social, cognitive, emotional and language domains.
These impairments were present from the first few
years of life. Pervasive Developmental Disorders are
now described in the Diagnostic and Statistical
Manual of Mental Disorders Text Revised edition
(DSM-IV-TR. 2000). This is the term used in a formal
diagnostic assessment.
The newer term, Autism Spectrum Disorders (ASDs) is
currently used but its definition lacks the level of
international agreement attached to Pervasive
Developmental Disorders. Currently, Autism Spectrum
Disorders (ASDs) usually refers to a group of different
conditions (Autism, Asperger’s Disorder and PDDNOS), a similar concept to PDD. However, others use
Autism Friendly Learning: What is Autism?
the term ASDs to refer to a unitary concept of autism
conveying a notion of severity from the aloof
intellectually delayed child with ‘Kanner’ type autism
at the severe end through to intelligent, less severely
affected children with Asperger’s Disorder at the
other end of the spectrum. Some clinicians describe
children as “on the spectrum” which is confusing for
parents and service providers. A comprehensive multidisciplinary assessment is essential in order that a
specific diagnosis can be made (Tonge, 2002). Most
often, the term Autism Spectrum Disorders (ASDs) is
used to refer to children meeting criteria for Autistic
Disorder or Asperger’s Disorder or Pervasive
Developmental Disorder– Not Otherwise Specified as
defined in the DSM-IV-TR (2000). The term PDDs
refers to the five categories — Autistic Disorder,
Asperger’s Disorder,
Pervasive Developmental
Disorder– Not Otherwise Specified, Rett’s Disorder,
and Childhood Disintegrative Disorder.

DSM has been periodically reviewed and
significantly revised since the publication of DSM-I
in 1952. It is anticipated that the next edition of
DSM due to be published in 2013 (DSM-5) will no
longer use the term PDD but will instead describe
one category called Autism Spectrum Disorder
that does not differentiate Autistic Disorder,
Asperger’s Disorder and PDD-NOS. It is proposed
that ASD will be included under the category
Neurodevelopmental Disorders.
ASDs are complex developmental disorders that affect
the brain’s normal development. Because the cause of
ASDs is unknown in most cases, diagnosis usually
relies upon matching the child’s behaviour patterns
and development with the diagnostic criteria. ASDs
usually emerge in early infancy, and the diagnosis of
autism can be reliably made from two years of age.
Diagnosis requires a comprehensive, multi-disciplinary
assessment comprising at least:





developmental and family history
observation of the child’s behaviour and
interaction with others
a medical assessment including tests for known
causes of developmental delay (e.g. chromosome
analysis) and hearing tests
a cognitive assessment using appropriate tests
such as: Psychoeducational Profile-Revised (PEPR) (Schopler et al, 1990), Wechsler Pre-school and
Primary Scale of Intelligence-Revised (WPPSI-R)
(Wechsler, 1989)
structured language assessment
3


structured assessment tools such as the Autism
Diagnostic Instrument (ADI) and the Autism
Diagnostic Observational Scales (ADOS) (Le
Couteur et al, 1989; Lord et al, 1989), clinician
completed rating scales e.g. the Childhood Autism
Rating Scale (CARS) (Schopler et al, 1980), and
parent or teacher completed checklists such as
the Developmental Behaviour Checklist (DBC)
(Einfeld & Tonge, 1992)
comprehensive and sensitive feedback to the
parents and carers about the diagnosis as the first
step in developing a plan of intervention and
services required.
Current
Autism
approaches
to diagnosing
To receive a diagnosis of autism a child must have
significant deficits in all 3 areas, with onset prior to
the age of 36 months. Multi-disciplinary assessment
teams use the DSM-IV-TR when making a diagnosis of
autism. Overall a child must present with at least six
symptoms from the three core areas, with at least two
symptoms from A, at least one symptom from B and
at least one symptom from C. Some children with
autism will have just six symptoms; others will have
many more, and all with different combinations of
difficulties, which is one of the reasons why children
with autism can present so differently.
Impaired social interaction
To meet diagnostic criteria for impaired social
interaction, a child must have at least two symptoms
prior to the age of 36 months.
Impaired communication
To
meet
diagnostic
criteria
for
impaired
communication a child must have at least one
symptom prior to the age of 36 months.
Restricted, repetitive and stereotyped patterns of
behaviour
To meet diagnostic criteria a child must present with
at least two symptoms prior to the age of 36 months.
Current approaches
Asperger’s Disorder
to diagnosing
Asperger’s disorder tends to be diagnosed later than
autism in young children. Neither ICD-10 nor DSM-IV
stipulates the criteria for age of onset as they do for
autism. However, in his original paper, Asperger
described children as having difficulties by the age of
two.
Autism Friendly Learning: What is Autism?
The Diagnostic and Statistical Manual of Mental
Disorders (DSM-IV) and the Classification of mental
and behavioural disorders (ICD-10) have attempted to
introduce a consistent international approach to
diagnosis and specify that the key differentiation is
that persons with Asperger’s disorder do not have
delayed language development which is a
characteristic of Autistic disorder. Persons with
Asperger’s disorder have overall normal intellectual
ability.
Assessment instruments
Over the past forty years various instruments have
been developed specifically to assist in the diagnosis
of autism and measurement of associated behaviours.
Contemporary assessment instruments are usually
administered in one of three ways:



a checklist or rating scale completed by a trained
clinician based on behavioural observation (e.g.
Childhood Autism Rating Scale (Schopler et al,
1980), Autism Behaviour Checklist (Krug, Arick &
Almond, 1980) ;
a structured parent/carer interview administered
by a trained clinician ( e.g. the ADI/ADOS (Le
Couteur et al, 1989; Lord et al, 1980); or
a parent/carer completed questionnaire (e.g. the
Developmental Behaviour Checklist (Einfeld &
Tonge, 1992); the Autism Screening Questionnaire
(Berument et al, 1999).
No one instrument is able to undertake all the tasks of
diagnosis and behavioural description. Therefore,
clinicians must evaluate an instrument’s ability to
meet a specific purpose and choose the appropriate
psychometrically sound instrument(s) from the range
available.
Difficulties associated with ASDs
Other difficulties or problems can be associated with
ASDs such as cognitive impairment, unusual dietary
habits, sleep disturbance, abnormalities of mood and
self-injurious behaviour. Perceptual abnormalities
such as lack of response to pain, heightened
sensitivity to sound and preoccupation with tactile
stimulation are also common. These features are not
specific to individuals with ASDs and may occur in
other children with or without intellectual disability.
Cognitive impairment
Children under the age of 6 who have delays or
problems with their development, learning and
thinking are usually described as having a
developmental delay. The more formal description of
4
Intellectual Disability is used when children are older
and can be tested on formal cognitive assessments.
Whilst children with autism can be difficult to assess
using standardised cognitive assessments, it has been
found that if appropriate tests are used, the results
are valid and reliable, and are stable over time
(Howlin, 2005). IQ scores on standardised tests of
intelligence of children with autism typically show an
unusual and distinctive pattern of performance with
deficits in verbal sequencing and abstraction skills and
better rote memory skills. Tasks requiring
manipulative, visuo-spatial skills or immediate
memory may be performed well, such as Block Design
and Object Assembly. These skills may be the basis of
“islets of ability” such as musical ability shown by a
few children with autism.
About 80 per cent of children with autism have an
associated intellectual disability which may be in the
mild, moderate or severe range. Approximately 20 per
cent of children with Autism do not have an
intellectual disability and are referred to as having
High Functioning Autism (HFA). However, children
with HFA usually have an uneven profile of abilities
when tested on a standardized cognitive or
developmental assessment.
Sensory sensitivities
years, few have provided systematic objective
evaluations of either the prevalence or nature of
feeding problems for children with autism. The range
of concerns described by parents and reported in the
literature generally relate to food/liquid selectivity
based on presentation or type, food refusal, and
concerns about unusual mealtime behaviours, such as
sniffing or inspecting foods, gorging, hording or
gagging. Schreck et al (2004) found that children with
autism do exhibit more eating and meal-time
problems and eat fewer foods from each food group
(fruits, dairy, vegetables, proteins, starches), than
typically developing children.
Sleep
Studies consistently report elevated rates of sleep
difficulties for children with developmental problems
when compared with typically developing children
(Wiggs, 2001). Reports of sleep problems in children
with an ASD range from 40%–80% compared to 30%
for typically developing children (Goodlin-Jones et al,
2009).
Parents of children with an ASD commonly report
problems with their child going to bed, falling asleep
and having frequent awakenings, which are associated
with disruptive daytime behaviour and increased
family stress (Richdale et al,2000).
Leo Kanner described “…intrusion from loud noises
and moving objects, which are therefore reacted to
with horror” (Kanner, 1943). Autobiographical
accounts from adults with High Functioning Autism
have since been published and report unusual
responses to sensory stimuli (Grandin, 1995). Sensory
problems have been described as contributing to high
levels of distress, fear and anxiety, which disrupt daily
life and social functioning, but also as a source of
pleasure and safety (O’Neill & Jones, 1997).
Research on sensory problems for individuals with
autism is limited compared to studies of other aspects
of
development
and
often
suffers
from
methodological limitations. However, empirical
studies suggest that sensory problems are present in
most children with autism and they manifest very
early in development (Baranek, 2002) and that
sensory symptoms are significantly related to
stereotyped interests and behaviours (Wiggins et al,
2009).
Diet and eating problems
In his initial paper Kanner described several children
with a history of fussy eating (Kanner, 1943). Whilst
there have been numerous reports written over the
Autism Friendly Learning: What is Autism?
5
Research and suggested further reading
American Psychiatric Association. (1994). Diagnostic
and Statistical Manual of Mental Disorders. (4th
ed.). Washington, DC: American Psychiatric
Association Press.
Lord, C., Pickles, A., McLennan, J., Rutter, M.,
Bregman, J., Folstein, S., Fombonne, E., Leboyer, M.
and Minshew, N. (in press). Diagnosing autism:
Analyses of data from the Autism Diagnostic
Interview. In A. Frances (Ed.), DSM-IV sourcebook.
Washington: APA.
American Psychiatric Association. (2000). Diagnostic
and Statistical Manual of Mental Disorders (Text
revision). Washington, DC: American Psychiatric
Association Press.
O’Neill, M and Jones R S. (1997) Sensory-perceptual
abnormalities in autism: A case for more research?
Journal Autism and Devel Dis 27, (3), 382-293.
Asperger, H. (1944). Die "Autistichen Psychopathen"
in
Kindersalter. Archiv
fur
Psychiatrie
und
Nervenkrankenheiten. 117, 76-136.
Richdale, A., Francis, A., Gavidia-Payne, S., & Cotton,
S. (2000). Stress, behaviour and sleep problems in
children with an intellectual disability. Journal of
Intellectual Disabilities, 25, 147–161.
Baranek, G. T. (2002). Efficacy of Sensory and Motor
Interventions for Children with Autism. Journal of
Autism and Developmental Disorders, 32(5), 397–
422.
Einfeld, S. L., & Tonge, B. J. (1992). Manual for the
Developmental
Behaviour
Checklist
Clayton,
Melbourne and Sydney: Monash University Centre
for Developmental Psychiatry and School of
Psychiatry, University of N.S.W.
Frith, U. (Ed.). (1991). Autism and Asperger’s
disorder. London: Cambridge University Press.
Goodlin-Jones, B., Schwichtenberg, A.,Josif, A.,
Tang., K., Liu, J., & Anders,T. (2009). Six-Month
Persistence of Sleep Problems in Young Children
With Autism, Developmental Delay and Typical
Development. Journal of the American Academy of
Psychiatry, 48(8), 847–854.
Grandin, T. (1995). Thinking in Pictures. USA:
Random House.
Howlin, P. (1998). Children With Autism and
Asperger’s Disorder. A Guide for Practitioners and
Carers. Chichester: John Wiley & Sons
Howlin, P. (2005). Outcomes in Autism Spectrum
Disorders. In Volkmar, F. R., Paul, R., Klin, A., &
Cohen, D. (Ed.), Handbook of Autism and Pervasive
Developmental Disorders. New Jersey: John Wiley
and Sons.
Kanner, L. (1943). Autistic disturbances of affective
contact. Nervous Child, 2, 217–250.
Le Couteur, A., Rutter, M., Lord, C., Rios, P.,
Robertson, S., Holdgrafer, M., & McLennan, J. D.
(1989).
Autism
Diagnostic
Interview:
A
semistructured interview for parents and caregivers
of autistic persons. Journal of Autism and
Developmental Disorders, 19, 363-387.
Autism Friendly Learning: What is Autism?
Schopler, E., Reichler, R. J., DeVellis, R. F., & Daly, K.
(1980). Toward objective classification of childhood
autism: Childhood Autism Rating Scale (CARS).
Journal of Autism & Developmental Disorders, 10,
91-103.
Schopler, E., Lansing, M., Reichler, R.& Marcus, L.
(2004). Psychoeducational Profile – Third Edition
(PEP-3). USA: Pro-Ed.
Schreck, K. A., Williams, K., & Smith, A. F. (2004). A
Comparison of Eating Behaviors Between Children
with and Without Autism. Journal of Autism and
Developmental Disorders, 34(4), 433–438.
Tonge, B. J. (2002). Autism, autistic spectrum and
the need for better definition. The Medical Journal
of Australia, 176(9), 412.
Wechsler, D. (2002). Wechsler Pre-School and
Primary Scale of Intelligence – Third Edition. San
Antonio: The Psychological Corporation.
Wiggins, L., Robins, D., Bakeman, B.,& Adamson, L.
(2009). Brief Report: Sensory Abnormalities as
Distinguishing Symptoms of Autism Spectrum
Disorders in Young Children. Journal of Autism and
Developmental Disorders, 39(7), 1087–1091.
Wiggs, L. (2001). Sleep problems in children with
developmental disorders. Journal of the Royal
Society of Medicine, 94 (4), 177–179.
Wing, L. (1981). Asperger’s syndrome: A clinical
account. Psychological Medicine, 11, 115–129.
Wray J, Williams K. (2007). The prevalence of autism
in Australia. Report commissioned by the Australian
Advisory Board on Autism Spectrum Disorders.
World Health Organisation. (1992). ICD-10:
Classification of mental and behavioural disorders.
6
Clinical
description
and
diagnostic
guidelines. Geneva: World Health Organisation.
Australia
AUTISM
http://www.autismvictoria.org.au
VICTORIA
Autism Victoria is a member-based not for profit
organization and describes itself as “the peak body
for Autism Spectrum Disorders in the state of
Victoria”. Its stated aim is to “improve the quality of
life for people affected by Autism Spectrum
Disorders, their family and carers”. Autism Vic also
provides a range of services to individuals and
agencies with an interest in Autism Spectrum
Disorders, including Asperger’s Syndrome and PDDNOS.
spectrum, and their families, to be fully
participating,
included
members
of
their
community”. Education, advocacy at state and
federal levels, active public awareness and the
promotion of research form the cornerstones of
ASA's efforts to carry forth its mission.
NATIONAL
AUTISTIC
http://www.nas.org.uk/
SOCIETY
The National Autistic Society (U.K.) exists to
champion the rights and interests of all people with
autism and to ensure that they and their families
receive quality services appropriate to their needs.
This site includes information about autism and
Asperger syndrome, and about support and services
available in the UK.
AUTISM
http://www.autismconnect.org/
AUTISMHELP.INFO
http://www.autismhelp.info/
This site is an initiative of Gateways Support Services
Inc. funded by the Department of Human Services
Victoria Barwon-South Western Region. The site was
designed to be easy to use, practical and
informative. Sections on the site contain practical
strategies and resources tailored to the needs of
professionals working with children and adults who
have autistic spectrum disorder.
BETTER
HEALTH
http://www.betterhealth.vic.gov.au
CONNECT
Autismconnect is a non-commercial web site,
providing news, events, world maps, and rapid
access to other web sites with information on
autism.
Online Asperger Syndrome Information & Support
www.aspergersyndrome.org/
CHANNEL
A site with concise information about Autism;
provided by the Department of Human Services,
State Government of Victoria.
HEALTHINSITE
AUTISM
http://www.healthinsite.gov.au/topics/Autism
A list of resources and articles on autism spectrum
disorders, including Asperger's syndrome; the site is an
initiative of the Australian Government.
Autism
Spectrum
www.aspect.org.au
Australia
(Aspect)
International
AUTISM
SOCIETY
OF
http://www.autism-society.org/
AMERICA
A comprehensive site providing information about
Autism and research into Pervasive Developmental
Disorders. The mission of the Autism Society of
America is to “promote lifelong access and
opportunity for all individuals within the autism
Autism Friendly Learning: What is Autism?
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