New biomarker could hasten autism diagnoses

Researchers may have identified a new biomarker that can help diagnose autism spectrum disorder in some children, according to a study published in Biological Psychiatry.

Researchers with University of California-Davis Health and NeuroPointDX recently tested whether the dysregulation of amino acids was a pervasive phenomenon in individuals with autism.

According to the study, the research was a part of the Children’s Autism Metabolome Project (CAMP), which is a large-scale effort to define autism biomarkers based on metabolomic analyses of blood samples from young children. Currently, there are no “reliable” biomarkers to detect autism.

Plasma metabolites from 516 children with autism were compared to those from 164 typically-developed children. Researchers found that autism-associated amino acids dysregulation metabotypes (AADM) were present in 16.7 percent of the children with autism.

“The combination of glutamine, glycine and ornithine AADMs identified a dysregulation in amino acids/branch chain amino acids metabolism that is present in 16.7 percent of the CAMP (autistic) subjects and is detectable with a specificity of 96.3 percent and a (positive predictive value) of 93.5 percent,” the authors wrote.

Researchers believe the findings could help enable earlier diagnosis and generate targeted interventions for specific autism groups, according to a release.

“The long-term vision is, once we’ve been able to analyze all the data from CAMP, we would have a series of panels,” David Amaral, founding director of research at the MIND Institute and lead author of the study, said in a statement. “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.”