  Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with
a wide range of behavioral and cognitive impairments. While genetic and
environmental factors are known to contribute to its etiology, the underlying
metabolic perturbations associated with ASD which can potentially connect
genetic and environmental factors, remain poorly understood. Therefore, we
conducted a metabolomic case-control study and performed a comprehensive
analysis to identify significant alterations in metabolite profiles between
children with ASD and typically developing (TD) controls. The objective of this
study is to elucidate potential metabolomic signatures associated with ASD in
children and identify specific metabolites that may serve as biomarkers for the
disorder. We conducted metabolomic profiling on plasma samples from
participants in the second phase of Epidemiological Research on Autism in
Jamaica, a cohort of 200 children with ASD and 200 TD controls (2-8 years old).
Using high-throughput liquid chromatography-mass spectrometry techniques, we
performed a targeted metabolite analysis, encompassing amino acids, lipids,
carbohydrates, and other key metabolic compounds. After quality control and
imputation of missing values, we performed univariable and multivariable
analysis using normalized metabolites while adjusting for covariates, age, sex,
socioeconomic status, and child's parish of birth. Our findings revealed unique
metabolic patterns in children with ASD for four metabolites compared to TD
controls. Notably, three of these metabolites were fatty acids, including
myristoleic acid, eicosatetraenoic acid, and octadecenoic acid. Additionally,
the amino acid sarcosine exhibited a significant association with ASD. These
findings highlight the role of metabolites in the etiology of ASD and suggest
opportunities for the development of targeted interventions.
