Urine Test Could Help Detect Autism In Children

Researchers at Arizona State University and Harvard Medical School have developed a promising new urine test that could help identify children at risk for autism earlier, potentially leading to faster diagnosis and earlier intervention. According to a press release published on May 26, researchers announced successful trial results for the Microbially-Derived Metabolite (MDM) System, a screening tool that analyzes urine samples for 17 microbial metabolites, small molecules produced by microorganisms in the gut, in children between the ages of 2 and 11. Researchers believe there is a strong connection to these molecules and autism in children. The system generates a score based on how many of these metabolites exceed the normal reference range.

What did the MDM System urine test find about autism?

To evaluate the test, researchers measured concentrations of microbially-derived metabolites in 52 children diagnosed with autism spectrum disorder (ASD) and 47 typically developing children. Participants were recruited from four states: Arizona, Massachusetts, Tennessee, and Texas. The results revealed a significant difference between the two groups. Nearly every child with autism had at least one metabolite level that exceeded the highest level observed among typically developing children. In some cases, metabolite concentrations were found to be 100 to 1,000 times higher. On average, children with autism had approximately three elevated metabolites, while the control group showed none.

The urine test also demonstrated encouraging accuracy during trials, achieving 90% sensitivity and 100% specificity. In other words, it correctly identified 90% of children with autism and did not incorrectly classify any children without autism in the study.

RELATED CONTENT: SPECTRUM — The ‘Aha’ Moment: Black Mothers Of Neurodivergent Children Are Discovering More About Their Own Mental Health

Researchers note that additional studies are currently underway to further validate the test, particularly given the study’s moderate sample size.

“What’s really striking about the bacteria is that they make metabolites that are basically altered versions of serotonin and dopamine,” said President’s Professor James Adams, corresponding author of the study and a researcher with the Biodesign Center for Health Through Microbiomes.

“These are two key neurotransmitters that affect mood, cognition and memory. This could explain many of the symptoms and co-occurring symptoms in children with autism, their social communication, anxiety, depression and attention,” he said. Adams is also the father of an adult daughter with autism.

“We think reducing the levels of these metabolites may help these children lead healthier and happier lives, and we encourage children to be screened sooner to receive earlier interventions,” said Adams, who is also affiliated with the School of Engineering of Matter, Transport and Energy within the Ira A. Fulton Schools of Engineering.

The MDM System may help with earlier autism intervention.

Currently, autism diagnoses rely heavily on behavioral assessments, and many families face lengthy waits before receiving answers. Research has consistently shown that earlier identification can lead to better developmental outcomes through medical, behavioral, and educational interventions.

“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.”

The test could also be used in conjunction with other diagnostic tools, researchers say.

Researchers noted that the urine test is not intended to serve as a stand-alone diagnostic tool. Instead, it could help identify children who may benefit from priority evaluation and access to specialized support services.

Beyond screening, the findings offer new insight into a potential biological pathway associated with many cases of autism. The metabolites measured by the MDM System are largely produced by the gut microbiome, and several are known to influence brain function through their relationship with neurotransmitters such as serotonin and dopamine, which play critical roles in mood, cognition, and behavior.

The findings align with more than 40 previous studies that have reported significantly elevated levels of many of the same microbial metabolites in children with autism.

At the same time, the researchers caution that their study does not establish a causal relationship between these metabolites and autism, even though several are strongly associated with symptoms linked to the disorder.

Based on their results, the team has proposed a potential new autism subtype known as “ASD associated with microbially-derived metabolites,” or ASD-MDM. According to the researchers, this subtype may account for roughly 90% of autism spectrum disorder cases. The remaining 10% of children with autism in the study did not show abnormal gut metabolite levels, although many of those children exhibited other significant metabolic abnormalities that may be connected to underlying genetic disorders.

The MDM System urine test is a great leap forward for families as autism diagnoses continue to increase worldwide. In the United States, the Centers for Disease Control and Prevention (CDC) estimates that about 1 in 31 children is diagnosed with ASD, up from a previous estimate of 1 in 36. The condition is also significantly more common among boys, who are diagnosed at more than three times the rate of girls.

RELATED CONTENT: World Autism Awareness Day — 10 Black Celebrities Proving Autism Is No Barrier To Success