To evaluate urinary concentrations of microbially derived metabolites in children with autism spectrum disorder (ASD) compared to typically developing controls.
Approach:
Study Design: A multisite pilot study analyzing urine samples from 52 children with ASD and 47 typically developing children aged 2 to 11 years.
Metabolite Analysis: Utilized semiquantitative and targeted quantitative liquid chromatography–mass spectrometry to identify and quantify metabolites.
MDM System Development: Developed a scoring system (MDM System) to classify children based on elevated metabolite levels.
Key Findings:
Children with ASD had higher urinary concentrations of multiple microbially derived metabolites compared to controls.
The MDM System achieved 90% sensitivity and 100% specificity in classifying children with ASD.
Of 24 metabolites analyzed, 23 were significantly elevated in children with ASD.
P-cresol was 151% higher, and methyl-3-indole acetate was 1,882% higher in the ASD group.
78% of children with ASD had at least one elevated microbially derived metabolite.
Interpretation:
The study suggests a potential link between ASD and specific urinary metabolite patterns, warranting further investigation.
Limitations:
Exclusion of participants with known single-gene disorders.
Lack of data on body mass index, diet, and medication use.
Absence of commercially available standards for some metabolites limited analysis.
Conclusion:
Findings require replication in an independent cohort to validate the results.
