Altered neurotransmitters in cerebrospinal fluid of children with autism spectrum disorder

Abstract

Introduction: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by social deficits and repetitive behaviors. Neurotransmitter imbalances have been implicated in ASD, but few studies have examined cerebrospinal fluid (CSF) alterations in ASD patients. Identifying specific CSF biomarkers could enhance our understanding of the underlying neurobiology and improve diagnostic and therapeutic approaches.

Methods: CSF samples were collected from 17 children, including 8 with ASD and 9 typically developing controls. Liquid chromatography-tandem mass spectrometry (LC-MS/MS) was used to analyze neurotransmitter levels and metabolites in the CSF samples. Statistical comparisons were performed to identify group differences in neurotransmitter concentrations.

Results: ASD participants had significantly lower levels of glutamine, norepinephrine, and kynurenine compared to controls. Neurotransmitter dysregulation, particularly in the glutamine-glutamate cycle, was observed in ASD, potentially contributing to core symptoms.

Conclusion: Our findings suggest that neurotransmitter imbalances in the CSF could serve as potential biomarkers for ASD. Further research is needed to validate these findings and explore therapeutic interventions targeting these neurotransmitter pathways.

Keywords: Autism spectrum disorder; Cerebrospinal Fluid; Glutamine-glutamate cycle; Liquid chromatography–tandem mass spectrometry; Neurotransmitters.