Scientists develop genetic autism test

2012-09-12 16:38
A child with autism uses an iPad at the Key School. (Jenni Gous)

A child with autism uses an iPad at the Key School. (Jenni Gous)

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Canberra - Australian scientists have developed a genetic test to predict autism spectrum disorder in children, which could provide a long-sought way for early detection and intervention, according to a study published on Wednesday.

About one in 150 children has autism, with symptoms ranging from social awkwardness and narrow interests to severe communication and intellectual disabilities, said researchers led by the University of Melbourne.

The researchers used US data from more than 3 000 individuals with autism in their study, published in the journal Molecular Psychiatry, to identify 237 genetic markers in 146 genes and related cellular pathways.

By measuring these markers, which either contribute to or protect an individual from developing autism, scientists could assess the risk of developing autism.

The risk markers increase the score on the genetic test, while the protective markers decrease the score. The higher the overall score, the higher the individual risk.

"This test could assist in the early detection of the condition in babies and children and help in the early management of those who become diagnosed," lead researcher Stan Skafidas said in a statement.

The test correctly predicted autism with more than 70% accuracy in people of central European descent, with study into other ethnic groups continuing.

The test would allow clinicians to provide early intervention to reduce behavioural and cognitive difficulties in people with autism.

"Early identification of risk means we can provide interventions to improve overall functioning for those affected, including families," clinical neuropsychologist Renee Testa said in a statement.
Read more on:    health  |  genetics
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