Press Release: CUHK identifies novel gut microbiome biomarkers to facilitate diagnosis of autism spectrum disorders Pilot clinical study shows modulation of gut microbiome alleviates anxiety symptoms

We conducted a large-scale study to explore the gut microbiome’s role in Autism Spectrum Disorder (ASD), aiming to develop objective diagnostic tools and novel therapeutic strategies. ASD diagnosis currently relies on behavioral assessments, which can be subjective and delayed. We sought to address this gap using microbiome-based approaches.

Diagnostic Biomarker Discovery

Analyzing stool samples from 1,627 children aged 1–13, we applied shotgun metagenomic sequencing and machine learning to identify a panel of 31 multikingdom and functional microbiome markers. These included bacteria, archaea, fungi, viruses, microbial genes, and metabolic pathways. The panel achieved 94% sensitivity and 93% specificity, offering a promising non-invasive diagnostic alternative validated across age groups and geographic settings.

Pilot Intervention Study

Building on functional insights—particularly disruptions in GABA-related microbial pathways—we designed a 12-week pilot trial involving 30 children with ASD. Participants received a synbiotic formulation (SCM06) aimed at modulating GABA production via the gut microbiome. We observed a 15–20% reduction in anxiety and sensory symptoms, with no serious adverse events.

Implications

Our findings support the gut microbiome as both a diagnostic and therapeutic target in ASD. This work lays the foundation for microbiome-based precision medicine approaches in neurodevelopmental disorders, with potential applications in early screening and adjunctive treatment.