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Autism blood test on the horizon

Kimberly Gillan
Friday, December 7, 2012
Image: Getty

US doctors believe they may have developed a blood test to help detect autism in children before they start displaying symptoms.

Diagnosing autism currently requires monitoring a child's behaviour, interviewing the parents and reviewing their development, but researchers from the Children's Hospital in Boston believe a blood based test could hold the key to a more straightforward diagnosis.

The test has so far been quite accurate amongst boys and has already been licensed to a company for commercial development, with clinical trials starting in early 2013.

Almost 65,000 Australians have autism and science has already identified links between family members with the condition.

Study author Isaac Kohane, a pediatric endocrinologist and computer scientist at the Children’s Hospital Boston, said the new test appears to be as effective as present genetic autism tests.

“A week does not go by where you don’t hear about a genetic mutation that has been linked to autism in at least a few families,” Dr Kohane said.

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The study compared 66 people with autism with 33 people without and analysed their blood for genetic differences.

They found 55 genes that appeared to predict autism in about two thirds of people with the disorder.

“There are a lot of different mutations involved, and a lot of different pathways that seem to be involved in autism,” Dr Kohane said.

However he pointed out there is not one single genetic pattern in autism.

“In that respect, autism is beginning to look a lot like what the cancer biologists are telling us about breast cancer, or lung cancer –– there may be hundreds of different molecularly defined cancers, which each have their own specific optimal treatment.”

The researchers hope the blood test could identify autism before symptoms appear at age two, so they can start therapy earlier.

However test is still in its infancy and requires "fine-tuning" before it can be rolled out as a standard autism-screening tool.

The study was published in the journal PLOS ONE.


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