Simon Lauder reported this story on Wednesday, September 12, 2012 12:42:00

ELEANOR HALL: An Australian scientific team says its research means there may soon be a simple blood test to determine a child's risk of developing autism spectrum disorder.



One parent, who has been through a long and difficult process to have her children diagnosed, says it's welcome news which could see treatment offered to children at a much earlier stage.



But the researchers say there's still more work to be done to improve the accuracy of the test.



In Melbourne, Simon Lauder reports.



SIMON LAUDER: Melbourne mother Stephanie Baker has a five-year-old son with Asperger's syndrome and a three-year-old son who also has a form of autism.



STEPHANIE BAKER: He was late to crawl, late to walk. He's now three years old and he still doesn't speak. So he has low functioning autism, but in both cases, it's very hard to know whether their traits are part of autism or if it's something else entirely.



SIMON LAUDER: Ms Baker now has confirmation that both her sons have autism spectrum disorders, but it can take a very long time and many tests to get a formal diagnosis.



STEPHANIE BAKER: It's been probably at least a year in the whole process. It's very hard not to know what is going on and to not know how to help your children.



The diagnosis of autism has been the best thing that's happened to both of them. It's allowed me to actually understand what's going on whereas before this it was just trial and error all the time and a lot more error.



SIMON LAUDER: Now a three-year study by an Australian research team has yielded results, which may make diagnosis much easier and quicker in the future.



The results have just been published in the journal of Molecular Psychiatry. Professor of Neural Engineering at Melbourne University, Stan Skafidas, is the lead author.



STAN SKAFIDAS: Based on a genetic test we're able to assess the risk a child has or will develop autism.



SIMON LAUDER: Using data from thousands of people with autism spectrum disorders and thousands of their relatives, the researchers identified hundreds of genetic markers and 146 genes related to autism.



Professor Skafidas says the test relies on measuring the levels of those and it has 70 per cent accuracy.



STAN SKAFIDAS: One provides a sample and it's usually a blood sample where one generates or extracts DNA. Once we had that information we put it into our tests and the test gives us a result indicating the risk that this child has or will develop autism.



And that also means that we can now look at these children from a younger age, if appropriate intervene with our current behavioural or other interventions, but then also a clinicians and researchers, monitor them to get a better understand of what the true causes and interactions with environments and genes are that lead to this disease.



SIMON LAUDER: Hoe certain are the results that this test can deliver? Is it a matter of being able to say yes, this test shows that the child will get an autism spectrum disorder or merely that there is a risk?



STAN SKAFIDAS: No this is merely a risk test. In the longer term it would need to be performed in conjunction with the standard diagnosis tests that are being undertaken today.



SIMON LAUDER: Stephanie Baker is already getting all the help she can for her two boys. She says a genetic test is fantastic news which could lead to a more swift diagnosis for other children in the future.



STEPHANIE BAKER: If that genetic test can sort of at the very beginning of the process look at it and go well yes, actually this child is likely to have this, it can just put you on the right track so much sooner and start getting the help for them.



It's just going to be such a big help and a big relief to a lot of families.



SIMON LAUDER: The researchers will continue monitoring children who were involved in the study and will work on improving the accuracy of the test.



ELEANOR HALL: Simon Lauder.