Genetic test predicts autism risk

Australian university researchers have pulled together a panel of gene markers that could mean an early test for autism spectrum disorders. There are currently no biomarker tests available, with doctors relying on interviews and clinical symptoms, and having a simple test would mean earlier support for the families and faster intervention for the children, which could help reduce behavioral and cognitive problems.

The researchers started by screening the Autism Genetic Resource Exchange (AGRE) database for changes in single letters of the genetic code (single nucleotide polymorphisms or SNPs), and found 237 SNPs in 146 genes that related to the risk of developing autism, or protected against the disorder. The results are published in Molecular Psychiatry.

Using this information, and the interactions and balances between the protective and risk markers, the team created a test that could predict autism spectrum disorder correctly with 70% accuracy in people of central European origin, but it was not as accurate in a group of Han Chinese people. Development of the test is ongoing, validating it against other groups of people and adapting it to work in other ethnic groups, and the next step will be to look at the test in children who are not yet diagnosed.

Autism affects around 1 in 150 births. Lead researcher Stan Skafidas, director of the Center for Neural Engineering at the University of Melbourne, said: "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. It would be particularly relevant for families who have a history of autism or related conditions such as Asperger's syndrome."

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- see the abstract