6
Voice
, Winter 2009. Down Syndrome Victoria Members Journal
Down syndromeand autismspectrum disorder
Research
by Dr Catherine Marraffa Deputy Director,Developmental Medicine Royal Children’s Hospital, Melbourne
The diagnosis of Down syndrome is made by the child’sappearance and confirmed when the chromosomes areexamined. Mostly this occurs in the early days or weeksof life. Autism is a diagnosis made by detailed history andobservation of behaviours by skilled professionals usuallyworking in a team. There is no specific blood test or scanthat can make the diagnosis.
Incidence of autism
Until recently autism was considered a rare condition(4 in 10,000 people). We now consider autism as a spectrumdisorder and that the incidence is 1 in 160 people accordingto Australian figures. Other countries report 1 in 150 oreven 1 in 100 people in the general population.Between 1979 and 2002, 36 cases of autism and Downsyndrome occurring together had been reported in theliterature. 24 were children and 12 were adults. Those whohad been tested had severe cognitive impairment. We nowbelieve autism can occur in about 7% (range 1%-10%) of thepopulation of people with Down syndrome, and therefore itoccurs at a much higher rate than in the general population
9
.
What is autism?
There are two internationally recognised systems usedto help define autism along with many other diseases anddisorders. The International Classification of Diseases
10
(ICD) is used in the UK and Europe whereas the Americansuse the Diagnostic and Statistical Manual of Mental disordersIV (DSM). These classification systems are revised regularlyas new and important information about various conditionsis learned.Autism is a lifelong, neurodevelopmental disorder and hasthree core components: communication impairments, socialimpairments and limited and restricted interests. Thesecore components must be present before the age of threeyears. Children present as two groups, those whose parentshave concerns from the very early months of life and asecond group (about 30%) whose parents report normaldevelopment until about 18 months of age and then thechildren regress and have loss of language and social skills.Many terms are used and this can be quite confusingfor parents and professionals. “Pervasive developmentaldisorders” is a term used in the classification systems toinclude autistic disorder, atypical autism, high functioningautism /Asperger syndrome and Pervasive DevelopmentalDisorder Not Otherwise Specified (PDD-NOS). The term“autism spectrum disorder” was suggested in the mid 1990’sby Dr Lorna Wing and is generally preferred as it indicatesthe range of presentations of autism. However the threecore components must be present to reach a diagnosis.Many of the symptoms and behaviours overlap with otherconditions such as obsessive compulsive disorder, attentiondeficit hyperactivity disorder and anxiety disorder and indeedthese conditions all overlap and are often co morbidities.
Dual diagnosis – Autism and Down syndrome – what do we know?
A group of researchers at the Kennedy Krieger Institute andthe Johns Hopkins University School of Medicine, Baltimore,Maryland has been collecting data and doing research withchildren who have a dual diagnosis of autism and Downsyndrome for some years now
5,6
. From the mid nineties they
For a long time, autism and Down syndrome were not thought to occur together and familieswere often told their children’s difficulties were related to the associated cognitive impairmentin Down syndrome. But a case of infantile autism was first described in the literature in achild with Down syndrome by Dr Wakabayashi in 1979 in Japan
2
. In the same year, Dr LornaWing 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 not
11
.
9156 Voice WINTER 2009 FIN.indd 616/6/09 10:11:30 AM
Voice
, Winter 2009. Down Syndrome Victoria Members Journal 7
Research
have performed a number of tests including psychologicaltests, medical evaluations, radiological examinations andbehavioural testing.An important finding is that children with autism and Downsyndrome also tend to fall into two groups. One group hassymptoms from early infancy and toddlerhood and anothergroup has regression with loss of language and social skills.However the second group regresses at a much later agethan seen in children with autism alone.A recent small study, done in Cincinnati, compared childrenwith regression in autism alone to those with regression inchildren with a dual diagnosis. This supported previousreports that children with both autism and Down syndromehad a later onset of regression at between 3-8 years of agecompared to the regression seen in children with autismalone (18 months-2 years)
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.
Symptoms and behaviours of autism in children with Down syndrome.
Parents often notice that their child with Down syndromeis developing differently from other children with Downsyndrome of the same developmental age. There is someevidence that those children who have additional healthproblems, 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 alsoincrease the risk for a child who has Down syndrome.A study from Sweden of children with Down syndrome andautism showed considerable delay in the diagnosis of autism.Average age of diagnosis was 14.4 years (standard deviation7.6 years, range of 4-33 years)
7
. From the work of the groupat Kennedy Krieger Institute, we know that children withDown syndrome and autism have a lack of social interestin peers and social withdrawal, very odd bizarre stereotypesand anxiety. Other symptoms such as a fascination for lightsand spinning things like fans or wheels, a need for extremeroutine and repetitive behaviours such as finger twirling,hand flapping and repetitive play are also present.As well as these, there can be extreme sensitivity toparticular sounds, places, smells, leading to distress andanxiety often manifest as a temper tantrum or meltdown.Children may not respond to their name being called andthey may show little interest in playing with toys. Thoughthey may develop language, the functional use of language,such as to greet someone or to communicate with anotherin a two way conversation is limited. They may lose language(regression) or never develop any words.
Other features which may indicate autism
for sameness and predictability.
eye poking .
lining them up in strict order.
their ears or having a tantrum when a baby cries or acertain advertisement comes on the television) sensitivityto seams or labels on clothing, difficulty with sensory play,such as with Playdoh, sand, paint and water.
of certain foods. Food texture, temperature and tastemay be factors.
social interest.
How to get a diagnosis
It is recognised that a multidisciplinary team approach ismost helpful when considering a diagnosis of autism in a child,adolescent or adult. In Victoria there are autism assessmentteams in the each of the Child and Adolescent Mental HealthServices (CAMHS). Other teams providing a multidisciplinaryassessment are based in paediatric units in public hospitalsthroughout the state. There is also a number of privatepractitioners who work in the area of autism and they toocan offer assessment. Some of these practitioners haveexpertise in making a diagnosis in adults.A detailed medical, psychological and speech and languageassessment is needed. Even in non-verbal children, anassessment of their communication system or style is vitalto help understand their needs. Similarly, a cognitive testingcan highlight particular learning difficulties or strengths.
Why make the dual diagnosis?
A diagnosis is important so that the appropriate educationalprogram and support can be offered to allow children toachieve the best possible outcomes. Children with Downsyndrome and autism may learn differently from childrenwith Down syndrome alone. It is also useful for parents tounderstand and manage unusual or aggressive behaviours andlearn how to prevent them. These behaviours can sometimesbe viewed as the child being naughty or attention seeking andinstead they are due to anxiety and social difficulties.A number of cognitive, behavioural and pharmaceuticaltreatments are beneficial for some of the symptoms of autism. These can help the young person be less stressed andanxious 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 withidentifying appropriate support and help for their child.Autism Victoria24 Drummond St,Carlton VIC 3053(03) 9657 1600www.autismvictoria.org.au
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