Urine test may help identify autism risk in children
· News-MedicalA simple urine test may help identify children at risk for autism sooner than current assessments - opening the door for earlier diagnosis and treatment, and better long-term outcomes for children who do have autism spectrum disorder.
By measuring these compounds in urine, the team discovered that they could distinguish children with autism from typically developing children in their study groups with high accuracy.
And understanding the biological diversity within autism could help guide more targeted interventions, including approaches aimed at restoring a healthy gut microbiome.
The research, published today in Molecular Psychiatry, points to a consistent biological pattern in many children with autism - elevated levels of specific metabolites in the gut.
These included metabolites that come from tyrosine, tryptophan and phenylalanine - amino acids involved in key neurotransmitter pathways - as well as other compounds connected to yeast and fungal activity.
The new classification tool is called the "Microbially-Derived Metabolite (MDM) System." The system assigns a score based on how many metabolites in a child's urine exceed a typical reference range.
Christina Flynn, first author of the study and a recent ASU PhD graduateWhat we've discovered is that 80 to 90% of children with autism have extremely high levels of one or more microbially derived metabolites. Using this test will tell you which young children are at high risk for being diagnosed with autism, and guide treatment in those who have already been diagnosed to help them lead their best lives."
During trials, the urine test showed promising accuracy, with 90% sensitivity and 100% specificity. That means it correctly identified 90% of the children with autism, and did not misidentify any of the children without autism in the study.
Additional confirmation of the test's accuracy is underway to further validate the test due to the moderate sample size of the study.
Using advanced research techniques, the team measured the concentration of microbially-derived metabolites in 52 children diagnosed with autism spectrum disorder, and 47 typically developing children ages 2 to 11 years. Children from four geographic locations, including Arizona, Massachusetts, Tennessee and Texas, participated in the study.
The differences were clear: Nearly all children with autism had at least one metabolite level exceeding the highest observed in the control group, with some levels measuring 100 to 1,000 times higher. On average, children with autism spectrum disorder had about three elevated metabolites, while typically developing children had none.
Earlier intervention
"We hope there is a reduction in stigma and shame associated with the condition," said Flynn, who herself is a parent of a child with autism. "Sometimes diagnostic hesitancy happens because parents feel like they're not good enough parents and they're being judged. But that's not the case because if we can detect it in urine, it's a biology-based condition. Hopefully that will prevent any hesitancy on parents' parts to seek treatment and seek it as early as possible."
A biological window into autism
This study is consistent with over 40 other studies which have found that many of the microbial metabolites measured in the MDM System are significantly higher in children with autism.
And based on their findings, the researchers propose a new subtype of autism called "ASD associated with microbially-derived metabolites," or ASD-MDM. This phenotype encompasses about 90% of cases of autism spectrum disorder. Approximately 10% of children with autism in the study did not have abnormal gut metabolites, however, most of those children had other major metabolic problems possibly associated with genetic disorders.
"I am excited about the MDM test, which includes important microbial metabolites, previously hypothesized to be linked with autism. This test can be a great way to assess this important microbial contribution," said Krajmalnik-Brown, director of the Biodesign Center for Health Through Microbiomes at ASU.
From the lab to real-world use
For younger children, the test may serve as a triage tool. For those already diagnosed, it may help clinicians explore underlying biological factors and monitor how interventions affect the body over time.
Cautious optimism
Still, the potential impact is significant.
Earlier detection and more personalized approaches could help improve quality of life - not just for individuals, but for entire families.
"For many families, one of the biggest challenges is the waiting - the not knowing," Flynn said. "If this test shortens that gap, even by a little, that's meaningful because earlier intervention can really help."
Source:
Journal reference: