Orozco, Jennie SoteloHertz-Picciotto, IrvaAbbeduto, LeonardSlupsky, Carolyn M
Summary
Developmental delays affect learning, language, and behavior as children grow. Some evidence suggests that the presence of changes in metabolism are associated with psychiatric disorders. In this study, the metabolics of children with autism spectrum disorder , idiopathic-developmental delay, and Down syndrome were compared to typically developed controls. The participants were from a subset of children from the Childhood Autism Risk from Genetics and the Environment (CHARGE) Study. Analysis shows significant associations between 11 plasma metabolites and neurodevelopmental conditions. Despite the varied origins of these developmental disabilities, researchers observed similarities in the metabolism pathways in DS and ASD cases and between the DS and i-DD cases.. This study expands on other recent research showing the metabolic alterations associated with developmental disabilities.
Abstract
Although developmental delays affect learning, language, and behavior, some evidence suggests the presence of disturbances in metabolism are associated with psychiatric disorders. Here, the plasma metabolic phenotype of children with autism spectrum disorder (ASD, n = 167), idiopathic-developmental delay (i-DD, n = 51), and Down syndrome (DS, n = 31), as compared to typically developed (TD, n = 193) controls was investigated in a subset of children from the case-control Childhood Autism Risk from Genetics and the Environment (CHARGE) Study. Metabolome profiles were obtained using nuclear magnetic resonance spectroscopy and analyzed in an untargeted manner. Forty-nine metabolites were identified and quantified in each sample that included amino acids, organic acids, sugars, and other compounds. Multiple linear regression analysis revealed significant associations between 11 plasma metabolites and neurodevelopmental outcome. Despite the varied origins of these developmental disabilities, we observed similar perturbation in one-carbon metabolism pathways among DS and ASD cases. Similarities were also observed in the DS and i-DD cases in the energy-related tricarboxylic acid cycle. Other metabolites and pathways were uniquely associated with DS or ASD. By comparing metabolic signatures between these conditions, the current study expands on extant literature demonstrating metabolic alterations associated with developmental disabilities and provides a better understanding of overlapping vs specific biological perturbations associated with these disorders.
Conditions
Autism Spectrum Disorder, Autistic Disorder, Developmental Disabilities, Mental Disorders