Objective:
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.
Sources:
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