Research

Down syndrome
and autism
spectrum disorder
by Dr Catherine Marraffa Deputy Director,
Developmental Medicine Royal Children’s Hospital, Melbourne

For a long time, autism and Down syndrome were not thought to occur together and families
were often told their children’s difficulties were related to the associated cognitive impairment
in Down syndrome. But a case of infantile autism was first described in the literature in a
child with Down syndrome by Dr Wakabayashi in 1979 in Japan2. In the same year, Dr Lorna
Wing and Dr Pat Howlin noted in a study of 35,000 children with a range of intellectual
disabilities in Camberwell London that some were sociable and some were not11.
The diagnosis of Down syndrome is made by the child’s Autism is a lifelong, neurodevelopmental disorder and has
appearance and confirmed when the chromosomes are three core components: communication impairments, social
examined. Mostly this occurs in the early days or weeks impairments and limited and restricted interests. These
of life.Autism is a diagnosis made by detailed history and core components must be present before the age of three
observation of behaviours by skilled professionals usually years. Children present as two groups, those whose parents
working in a team.There is no specific blood test or scan have concerns from the very early months of life and a
that can make the diagnosis. second group (about 30%) whose parents report normal
development until about 18 months of age and then the
Incidence of autism
children regress and have loss of language and social skills.
Until recently autism was considered a rare condition
Many terms are used and this can be quite confusing
(4 in 10,000 people).We now consider autism as a spectrum
for parents and professionals.“Pervasive developmental
disorder and that the incidence is 1 in 160 people according
disorders” is a term used in the classification systems to
to Australian figures. Other countries report 1 in 150 or
include autistic disorder, atypical autism, high functioning
even 1 in 100 people in the general population.
autism /Asperger syndrome and Pervasive Developmental
Between 1979 and 2002, 36 cases of autism and Down
Disorder Not Otherwise Specified (PDD-NOS).The term
syndrome occurring together had been reported in the
“autism spectrum disorder” was suggested in the mid 1990’s
literature. 24 were children and 12 were adults.Those who
by Dr Lorna Wing and is generally preferred as it indicates
had been tested had severe cognitive impairment.We now
the range of presentations of autism. However the three
believe autism can occur in about 7% (range 1%-10%) of the
core components must be present to reach a diagnosis.
population of people with Down syndrome, and therefore it
Many of the symptoms and behaviours overlap with other
occurs at a much higher rate than in the general population9.
conditions such as obsessive compulsive disorder, attention
What is autism? deficit hyperactivity disorder and anxiety disorder and indeed
these conditions all overlap and are often co morbidities.
There are two internationally recognised systems used
to help define autism along with many other diseases and Dual diagnosis – Autism and Down syndrome
disorders.The International Classification of Diseases10 – what do we know?
(ICD) is used in the UK and Europe whereas the Americans
A group of researchers at the Kennedy Krieger Institute and
use the Diagnostic and Statistical Manual of Mental disorders
the Johns Hopkins University School of Medicine, Baltimore,
IV (DSM).These classification systems are revised regularly
Maryland has been collecting data and doing research with
as new and important information about various conditions
children who have a dual diagnosis of autism and Down
is learned.
syndrome for some years now 5,6. From the mid nineties they

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 Research
have performed a number of tests including psychological
tests, medical evaluations, radiological examinations and
behavioural testing.
An important finding is that children with autism and Down
syndrome also tend to fall into two groups. One group has
symptoms from early infancy and toddlerhood and another
group has regression with loss of language and social skills.
However the second group regresses at a much later age
than seen in children with autism alone.
A recent small study, done in Cincinnati, compared children
with regression in autism alone to those with regression in
s 5 NUSUALREACTIONSTOCERTAINNOISESFOREXAMPLECOVERING
their ears or having a tantrum when a baby cries or a
certain advertisement comes on the television) sensitivity
to seams or labels on clothing, difficulty with sensory play,
such as with Playdoh, sand, paint and water.
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of certain foods. Food texture, temperature and taste
may be factors.
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social interest.
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children with a dual diagnosis. This supported previous s 5NUSUALVOCALISATIONSSUCHASGRUNTINGHUMMINGBARKING
reports that children with both autism and Down syndrome
had a later onset of regression at between 3-8 years of age
compared to the regression seen in children with autism
alone (18 months-2 years)8.
Symptoms and behaviours of autism in children
with Down syndrome.
Parents often notice that their child with Down syndrome
is developing differently from other children with Down
syndrome of the same developmental age.There is some
evidence that those children who have additional health
problems, such as post cardiac surgery brain injury, epilepsy
(infantile spasms) and hypothyroidism, are at greater risk
of developing autism.A family history of autism may also
increase the risk for a child who has Down syndrome.
A study from Sweden of children with Down syndrome and
autism showed considerable delay in the diagnosis of autism.
Average age of diagnosis was 14.4 years (standard deviation
7.6 years, range of 4-33 years) 7. From the work of the group
at Kennedy Krieger Institute, we know that children with
Down syndrome and autism have a lack of social interest
in peers and social withdrawal, very odd bizarre stereotypes
and anxiety. Other symptoms such as a fascination for lights
and spinning things like fans or wheels, a need for extreme
routine and repetitive behaviours such as finger twirling,
hand flapping and repetitive play are also present.
As well as these, there can be extreme sensitivity to
particular sounds, places, smells, leading to distress and
anxiety often manifest as a temper tantrum or meltdown.
Children may not respond to their name being called and
they may show little interest in playing with toys.Though
they may develop language, the functional use of language,
such as to greet someone or to communicate with another
in a two way conversation is limited.They may lose language
(regression) or never develop any words.
Other features which may indicate autism
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for sameness and predictability.
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How to get a diagnosis
It is recognised that a multidisciplinary team approach is
most helpful when considering a diagnosis of autism in a child,
adolescent or adult. In Victoria there are autism assessment
teams in the each of the Child and Adolescent Mental Health
Services (CAMHS). Other teams providing a multidisciplinary
assessment are based in paediatric units in public hospitals
throughout the state.There is also a number of private
practitioners who work in the area of autism and they too
can offer assessment. Some of these practitioners have
expertise in making a diagnosis in adults.
A detailed medical, psychological and speech and language
assessment is needed. Even in non-verbal children, an
assessment of their communication system or style is vital
to help understand their needs. Similarly, a cognitive testing
can highlight particular learning difficulties or strengths.
Why make the dual diagnosis?
A diagnosis is important so that the appropriate educational
program and support can be offered to allow children to
achieve the best possible outcomes. Children with Down
syndrome and autism may learn differently from children
with Down syndrome alone. It is also useful for parents to
understand and manage unusual or aggressive behaviours and
learn how to prevent them.These behaviours can sometimes
be viewed as the child being naughty or attention seeking and
instead they are due to anxiety and social difficulties.
A number of cognitive, behavioural and pharmaceutical
treatments are beneficial for some of the symptoms of
autism.These can help the young person be less stressed and
anxious and more available to learn and interact with others.
How to get help with the diagnosis of autism
Autism Victoria is a useful resource to help parents with
identifying appropriate support and help for their child.
Autism Victoria
24 Drummond St,
s (YPERACTIVITYIMPULSIVITYANDLIMITEDATTENTION Carlton VIC 3053
s 3ELFINJURIOUSBEHAVIOURSKINPICKINGBITINGHEADBANGING (03) 9657 1600
eye poking . www.autismvictoria.org.au
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lining them up in strict order.

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 Research
References
1. Collins VR, Muggli EE, Riley M, Palma S, Halliday JL. (2008)‘Is Down
syndrome a disappearing birth defect?’ J Pediatr. Jan;152(1):20-4
2. Wakabayashi, S. (1979) ‘A case of infantile autism associated with Down
syndrome’ Journal of Autism and Developmental Disorders, 9, 31-36.
3. Ghaziuddin, M..Tsai, L., Ghaziuddin, N. (1992) ‘Autism in Downs’ syndrome:
presentation and diagnosis’. Journal of Intellectual Disability Research, 36,
449-456.
4. Matson, Johnny L.,Wilkins, Jonathan and Ancona, Martin (2008) ‘Autism
in adults with severe intellectual disability:An empirical study of symptom
presentation’, Journal of Intellectual & Developmental Disability, 33:1, 36-42
5. Carter, John C. Capone, George T., Kaufmann,Walter E. (2008 Apr 16)
‘Neuroanatomic correlates of autism and stereotypy in children with Down
syndrome’ Neuroreport 16;19(6): 653-6
6. Carter John C, Capone George T., Gray Robert M. Cox Christiane S,
Kaufmann Walter E. (2006) ‘Autistic-Spectrum Disorders in Down Syndrome:
Further Delineation and Distinction from Other Behavioral Abnormalities’
Am J Med Genet Neuropsychiatr Genet Part (B)
7. Rasmussen P, Börjesson,Wentz E, Gillberg C. (2001 Nov) ‘Autistic
disorders in Down syndrome: Background factors and clinical correlates’
Dev Med Child Neurol 43 (11): 750-4
8. Howard J, Molloy C, Patterson B, Hickey F, Castillo H. (2006 Oct 13)
‘Age of developmental regression in children with autism with and without
Down syndrome’ Kentucky Junior Academy of Science Psychology
Undergraduate Research Competition.
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9. Kent L, Evans J, Paul M, Sharp M. (1999 Mar) ‘Co morbidity of autistic
spectrum disorders in children with Down syndrome’ Dev Med Child Neurol
41 (3): 153-8
10. Howlin P, Wing L, Gould J. (1995 May) ‘The recognition of autism in
children with Down syndrome—implications for intervention and some
speculations about pathology’ Dev Med Child Neurol 37 (5): 406-414
11.Wing L, Gould J. (1979 Mar) ‘Severe impairment of social interaction and
associated abnormalities in children; epidemiology and classification’ J Autism
Dev Disord 9 (1): 11-29
Dr Catherine Marraffa (MBBS FRACP FRCPCH) has worked with
children with a wide range of developmental disabilities, both
physical and intellectual, over the last 20 years. She is the Deputy
Director, Developmental Medicine at the Royal Children’s Hospital,
Parkville, and Paediatrician to the Autism Assessment Team of the
Integrated Mental Health Service. She has been in this position for
14 years. Previously, she was a Consultant Paediatrician at Central
Middlesex Hospital, London, for six years. She has co-authored
several recent papers and book chapters on children with autism
and other related topics. She is on the Board of the Olga Tennison
Autism Research Centre.
Dr Marraffa was Chair of the Royal Australasian College of
Physicians,Victorian State Committee (Paediatrics and Child
Health Division) from 2004-2008.
Down Syndrome Victoria is investigating the demand for
a peer support group for parents of a child with a dual
diagnosis. Please contact sue@dsav.asn.au or phone
Sue Modra on 1300 658 873 if interested.
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