Test may help early autism diagnosis

By Hana Garrett-Walker, Matthew Backhouse

Alex Spice, who has autism, and his dedicated mother, Heather Spice. Photo / John Borren
Alex Spice, who has autism, and his dedicated mother, Heather Spice. Photo / John Borren

A new genetic test that can predict the risk of developing autism is great progress towards more effective diagnosis of the condition, a local autism group says.

The Australian-designed test could help with the early detection of the condition and allow for early intervention in babies and children who are diagnosed.

Lead researcher Professor Stan Skafidas of Melbourne University said it would be particularly relevant for families with a history of autism or related conditions such as Asperger's Syndrome.

Autism spectrum disorder (ASD) affects about one in 150 births and is characterised by abnormal social interaction, impaired communication and repetitive behaviours.

The researchers instead drew on data from thousands of individuals with the condition and their relatives to identify 237 genetic markers across 146 different genes and related cellular pathways.

The test is based on measuring the genetic markers which either contribute to or protect an individual from developing the ASD.

Risk markers increase the overall score while protection markers decrease it - meaning the higher the score, the higher the risk an individual will develop ASD.

Paula Gardner, national manager of New Zealand information and support group Autism Altogether, said the test would be very helpful to both families and clinicians.

"This is great progress in the research trying to establish genetic markers for autism spectrum disorder and again we hope it will lead to more effective diagnostic processes and earlier, more targeted supports.

"We will be watching this research with great interest."

At the moment, the test is able to correctly predict ASD with greater than 70 per cent accuracy in people of central European descent.

Ongoing tests are continuing to develop accurate testing for other ethnicities.

Clinical neuropsychologist Renee Testa, of Melbourne and Monash universities, said the test would allow clinicians to provide early interventions that may reduce behavioural and cognitive difficulties.

"Early identification of risk means we can provide interventions to improve overall functioning for those affected, including families."

The next step is to further assess the accuracy of the test by monitoring children who have not yet been diagnosed over an extended study.

The Melbourne University-led study was published in the journal Molecular Psychiatry yesterday.


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