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Researchers hoping to develop blood test to judge autism risk

Posted March 6

— Diagnosing children with autism spectrum disorders isn't easy, but a group of researchers is hoping to come up with a simple blood test to identify children who may be at risk.

Doctors at University of North Carolina at Chapel Hill's Aspire program currently study developmental, social, cognitive and behavioral signs to help diagnose children, and they're now a part of a North American study that hopes to add blood testing to those checklists.

"When people have a concern, they could do a quick and easy blood test to determine whether they should move on to getting a careful evaluation for autism or whether the chances are so low that their child has autism that they cannot worry about it," Dr. Linmarie Sikich, the director of UNC's Aspire program, said.

Earlier diagnosis could lead to earlier intervention, a key in treating autism long term. Most children are diagnosed between 4 and 5 years old, and those with more functional forms of the disease may not be diagnosed until years later. 

Five-year-old William Carmichael, of Wendell, was tested early because his older brothers also have autism spectrum disorders.

"The sooner you can get the diagnosis, the sooner you can start the intervention," Annie Carmichael, William's mother, said. "He's bloomed under those (Aspire) services, and he's bloomed under the preschool program in Johnston County."

"Often people are finding interventions work best if you can start them between 2 and 3 years of age," Sikich said. 

Using blood samples from children like Williams, researchers will measure differences in RNA gene expression, a method that could yield risk factors for families. 

It wouldn't be a "yes" or "no" moment for parents who wonder if their children have an autism spectrum disorder, but it would provide data earlier, which is an important step in potential diagnosis and treatment.

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