Sept. 6 (UPI) -- Researchers have identified a metabolic way to detect autism spectrum disorder in some children, potentially paving the way for a biomarker blood test.
Investigators at the University of California Davis and NeuroPointDX, a division of Stemina Biomarker Discovery, conducted the Children's Autism Metabolome Project, or CAMP, which is one of the largest studies of its kind. UC Davis' Medical Investigation of Neurodevelopmental Disorders, or MIND, examines neurodevelopmental disorders.
A study of the efficacy of the blood test, which was published Thursday in Biological Psychiatry, was able to detect about 16.7 percent of children with autism spectrum disorder.
Autism, which develops in childhood and continues through adulthood, is a neurological and developmental disorder that is prevalent in 1 in 59 children, the Centers for Disease Control and Prevention found in tracking 11 communities across the country.
"The long-term vision is, once we've been able to analyze all the data from CAMP, we would have a series of panels," senior author David G. Amaral, founding director of research at the MIND Institute, said in a press release. "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."
No biomarker tests now exist to detect ASD. Instead, children are diagnosed based on their altered behaviors, which often aren't seen until they are 2-4 years old.
"Families often experience long waits to receive a definitive diagnosis due to the paucity of trained clinicians able to perform diagnostic assessment," the researchers wrote.
Researchers found autism can be detected in metabolome, molecules that remain after larger molecules have been broken down or metabolized. With metabolomics, genetic and environmental contributions to the development of autism can be monitored.
"By the time you're getting to metabolomics, you're looking at how the body is working, not just the genes it has," Amaral said.
In the study, blood samples were collected from 1,100 children, including about two-thirds having been diagnosed with ASD, between 18 months and 4 years old, at eight locations in the United States.
Researchers compared blood metabolites -- specifically, amino acids -- in 516 kids children with ASD and 164 with typical development.
Nearly 17 percent of the ASD children had unique concentrations of specific amino acids in their blood.
"It is unlikely that a single marker will detect all autism," Amaral said. "The hope is that we will be able to generate a panel of biomarkers that will detect a large proportion of people at risk. Moreover, this approach highlights metabolic pathways that may be targets of intervention."
They also hope to find treatments for specific ASD groups.
Amaral used another disease as an example. He noted that relatively small dietary adjustments can make a big difference in phenylketonuria, a rare disease caused by build-up of the amino acid phenylalanine, causing brain damage.
"With just a simple dietary modification, a child can move from being profoundly disabled to one who lives a reasonably normal life," Amaral said. "That's the hope with autism as well."
The researchers are working to validate these results while simultaneously investigating other metabotypes.
"I'm optimistic this is not a one-off," said Amaral. "There are going to be other panels that can detect other groups of kids with ASD."
