Published Paper Details:

Autism Spectrum Disorder (ASD) raises a challenge in early diagnosis due to its diverse symptoms and unclear etiology. Present study focuses on exploring potential biomarkers associated with the pathogenesis of ASD through the analysis of urinary neurotransmitters using liquid chromatography-tandem mass spectrometry (LCMSMS). A total of 104 urine samples (64 ASD and 40 non-ASD controls) were collected and analyzed. Significant differences were observed in the levels of serotonin, 5-hydroxyindoleacetic acid (5-HIAA), and normetanephrine between ASD and non-ASD groups (p<0.05). Principal component analysis (PCA) revealed minimal variation between groups. Correlation analysis indicated weak positive correlations between serotonin and 5-HIAA (p<0.05), while negative correlations with metanephrine and normetanephrine (p<0.05). Metanephrine and normetanephrine had a moderate negative correlation (p<0.05). Heatmap analysis illustrated difference in the concentrations of serotonin, 5-hydroxy indoleacetic acid and normetanephrine and metanephrine among ASD and control group. Tryptophan (impact factor-0.12) and tyrosine (impact factor-0.02) pathways are highlighted in the pathway enrichment analysis (p<0.05). Serotonin, 5-hydroxy indoleacetic acid and normetanephrine (p<0.05) were identified as the potential biomarkers through Receiver operating characteristic (ROC) analysis, showed high area under the curve (AUC) values and strong sensitivity and specificity while metanephrine showed low performance (p<0.79). Present work emphasizes the importance of urinary neurotransmitters as a tool for identifying ASD and provides insight into neurobiological mechanisms underlying the disorder. Further research is essential to validate these findings.