Q&A: Stool samples could help diagnose autism early, researchers say
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Key takeaways:
- Fecal samples identified differences in the gut microbiota of children with autism.
- The findings indicate that stool samples could be used to detect autism early, researchers said.
Findings from a study that identified differences in the gut microbiota of children with autism indicate that stool sample testing could be used as an early, noninvasive diagnostic tool for autism, researchers reported.
Other studies have also found links between gut microbiota and autism or other conditions, including diabetes.
In the new study, which was published in Nature Microbiology, researchers sequenced fecal samples from more than 1,600 children aged 1 to 13 years and found 51 bacteria, 27 microbial genes, 18 viruses, 14 archaea, 12 metabolic pathways and seven fungi that were altered in children with autism compared with children who did not have autism.
Healio reached out to the research team with some questions and received joint responses from Francis K.L. Chan, SBS, JP; Siew C. Ng, MBBS, PhD; Qi Su, PhD, and Oscar W.H. Wong, MBChB, all faculty members at the Chinese University of Hong Kong.
Healio: What inspired the study?
Chan, Ng, Su and Wong: The study was inspired by a pressing clinical need for an objective and noninvasive biomarker for autism. As it was observed that gut microbiome is altered in autistic children, we explored the clinical utility of leveraging the gut microbiome as a diagnostic tool for the condition. The complexity and heterogeneity of autism also drove us to investigate whether the gut microbiome might contribute to the diverse clinical phenotypes.
Healio: What was different about the gut microbiota of children with autism?
Chan, Ng, Su and Wong: In children with autism, the composition and functionality of the gut microbiota was different compared to children without autism.
In terms of composition, we discovered specific types of bacteria, archaea, fungi and viruses that were over and under-represented among children with autism. Then, the genes and metabolic pathways, through which the microorganisms exert physiological effect on the human body, are also different in children with autism. Specifically, two important metabolic processes involving the production of ubiquinol-7 and thiamine diphosphate were less active in children with autism. These metabolites are key molecules that mediate the interaction between the gut and the brain.
Healio: How can this information be used to diagnose autism?
Chan, Ng, Su and Wong: By identifying specific microbial markers — including the types of bacteria, archaea, fungi and viruses, along with their metabolic activities that are different in children with autism — we have created a machine learning-based algorithm that can serve as a noninvasive diagnostic test for autism. The algorithm could recognize gut microbial patterns associated with autism using stool samples from children subjected to the test. This approach offers a noninvasive and potentially early method of diagnosing autism, allowing earlier interventions and support for the affected children.
Healio: Do the findings imply that altering a child’s microbiota could be an intervention for autism?
Chan, Ng, Su and Wong: As our study revealed, [there are] differences in the gut microbiota and metabolic pathways between children with and without autism. This opens the possibility that by modifying the gut microbiome through diet, probiotics, prebiotics or other microbiome-based therapies might be a new treatment strategy for autism.
Healio: All the children from the study were in China, but the composition of gut microbiomes can be different depending on where a person lives. Do you have a reason to believe the results would be different in other parts of the world?
Chan, Ng, Su and Wong: Indeed, differences in dietary habits, geographical factors and health care practices can influence the gut microbiome composition. In our study, we developed our machine-learning algorithm by training the model to consider the influence of these factors. The resulting algorithm showed that when it is applied to data from the United States and Russia, satisfactory results are still retained. This lends support to the idea that our algorithm would still be applicable to other parts of the world. As a next step, we plan to conduct similar research in diverse populations worldwide to validate the findings.
Healio: Are there similar studies underway in other countries?
Chan, Ng, Su and Wong: There are studies on gut microbiome and autism being conducted in different countries in the world. In light of our study’s results, we are keen to collaborate with research centers for validation of our results across different countries and regions around the world.
The takeaway is that our gut health could be important for the mental well-being of children, and attention to diet is a simple way to influence our gut health.
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