Biological test for autism could lead to earlier identification

A new study from NeuroPointDX of Madison and University of California researchers shows biochemical markers could allow for earlier identification of autism spectrum disorder.

Lead author David Amaral says this discovery could also lead to avenues for therapeutic intervention.

NeuroPointDX is a division of Stemina Biomarker Discovery, also based in Madison, and Amaral is from the MIND Institute at UC Davis. Researchers from the company and university collaborated on a large-scale study to follow up on previous research that had identified new targets for analysis.

Autism spectrum disorder, or ASD, is characterized by troubles with communication and social interaction. But it comes from a wide array of neurodevelopmental disorders stemming from diverse factors. Differences in both genetics and environment have been linked to the disorder.

Currently, the only way to diagnose ASD is through behavioral observation. And though children can be diagnosed as young as 24 months, the average age of diagnosis is over 4 years.

This new research could lead to identification methods which would catch ASD at a younger age. That’s important, because earlier identification means earlier intervention, and ultimately better outcomes for the affected kids.

Researchers conducted a study at eight different sites with 1,100 children in total between ages 2 and 4, with clinical ASD, developmental delay, or typical development.

After comparing biological samples from 516 children with ASD with samples from 164 normally developing children, scientists were able to categorize those with ASD into subpopulations based on shared metabolic signatures.

These signatures are related to how the body metabolizes certain amino acids which are important for normal brain development.

“It is unlikely that a single marker will detect all autism,” Amaral said. “This paper demonstrates that alterations in metabolic profiles can detect sizable subsets of individuals with autism. The hope is that we will be able to generate a panel of biomarkers that will detect a large proportion of people at risk.”

Study results were published yesterday in the journal Biological Psychiatry. This marks the first publication using data from the Children’s Autism Metabolome Project, or CAMP, which is the largest study ever of the metabolism of children with ASD, according to NeuroPointDX.

“One of the major goals of the MIND Institute is the development of early biological markers for detecting the risk of autism spectrum disorder,” Amal said. “It would have been difficult for the MIND Institute to carry out the CAMP study on its own. CAMP is an excellent example of an academic/corporate partnership that has the promise of benefitting the autism community.”

Study samples from CAMP continue to be analyzed by NeuroPointDX, to find other “metabotypes” which be used to diagnose more subsets of ASD.

According to a release from NeuroPointDX, these categories for ASD could be combined into a diagnostic panel. From there, the company says “it should be possible” to develop a blood test to test for ASD which could identify “a substantial percentage of children at risk.”

Funding for the CAMP study came from a grant from the National Institutes of Mental Health and two family foundations.

See the study here:

–By Alex Moe