Blood Test Could Help Diagnose Kids with Autism

September 6, 2018

Rare Daily Staff

Investigators at the UC Davis MIND Institute and NeuroPointDX said they have identified a group of blood metabolites that could help detect autism spectrum disorder (ASD) in some children, a significant step toward the development of a blood test for diagnosing children with ASD.

The research, part of the Children’s Autism Metabolome Project (CAMP), was published in the journal Biological Psychiatry. It suggests about 17 percent of children with ASD could be diagnosed by looking for alterations in amino acid metabolism. ASD is a developmental disorder that causes problems with communication, social, verbal, and motor skills.

No biomarker tests for ASD currently exist. Children are diagnosed based on their altered behaviors, which may not become evident until children are 2-4 years old. Families often must wait over a year or more for an appointment with a specialist, further delaying a diagnosis.

“This is the first of hopefully many panels that will identify other subsets of kids with autism,” said David Amaral, founding director of research at the MIND Institute and senior author on the paper.

By focusing on the metabolome—the molecules that remain after larger molecules have been metabolized—the researchers say they can monitor both genetic and environmental contributions to the development of autism.

“By the time you’re getting to metabolomics, you’re looking at how the body is working, not just the genes it has,” said Amaral, a professor of psychiatry and behavioral sciences.

In their work the research team compared blood metabolites in 516 kids with ASD and 164 children showing typical development. They found that 17 percent of the ASD children had unique concentrations of specific amino acids in their blood.

ASD encompasses a complex array of symptoms. The researchers say they do not expect to find a single group of markers that would diagnose all subsets. Rather, they hope to create multiple metabolomic assays that cover all variations.

“The long-term vision is, once we’ve been able to analyze all the data from CAMP, we would have a series of panels,” said Amaral. “Each of these would be able to detect a subset of kids with autism. Ultimately, metabolomics may be able to identify most children with autism.”

September 6, 2018
David Amaral, founding director of research at the UC Davis MIND Institute

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