Scientists have made a significant breakthrough in autism diagnosis by identifying consistent differences in the gut microbes of autistic individuals compared to those without the condition. This discovery suggests that a routine stool sample test could potentially offer a cheap and simple method for early autism detection, accelerating diagnosis and subsequent support for those affected.
Currently, diagnosing autism is a lengthy process that often takes three to four years, with most children receiving their diagnosis around the age of six. Professor Qi Su from the Chinese University of Hong Kong highlights the potential of their microbiome biomarker panel, which performs effectively in children under the age of four. This could significantly speed up the diagnosis process, allowing for earlier interventions.
The study, published in Nature Microbiology, analyzed stool samples from 1,627 children aged one to 13, some of whom were autistic. Researchers identified 51 types of bacteria, 18 viruses, 14 archaea, seven fungi, and a dozen metabolic pathways that were altered in autistic children. Using machine learning, the team achieved up to 82% accuracy in identifying autistic children based on 31 microbes and biological functions in the digestive system.
While genetic factors play a substantial role in autism, the study suggests that the microbiome could influence the severity or expression of autism spectrum symptoms by modulating immune responses, neurotransmitter production, and metabolic pathways. This opens up the possibility of personalized interventions using diet or probiotics to establish a more diverse microbiome in those diagnosed with autism.
Dr. Dominic Farsi from King’s College London emphasized the potential of these findings in diagnostic practice, although he noted that further research is needed to confirm the results. Similarly, Dr. Elizabeth Lund, an independent consultant in nutrition and gastrointestinal health, expressed excitement over the potential of stool sample analysis in aiding diagnosis, given the current backlog of children and adults awaiting assessment.
The research team is now conducting a clinical trial to investigate whether stool samples can help identify autistic children as young as one year old. If successful, this approach could revolutionize autism diagnosis, offering a faster, noninvasive, and more efficient method to support those on the autism spectrum.