Autism Spectrum Disorder (ASD) is a neurodevelopmental condition with hallmark behavioral manifestations including impaired social communication and restricted repetitive behavior. In addition, many affected individuals display metabolic imbalances, immune dysregulation, gastrointestinal (GI) dysfunction, and altered gut microbiome compositions. We sought to better understand non-behavioral features of ASD by determining molecular signatures in peripheral tissues. Herein, we present the untargeted metabolome of 231 plasma and 97 fecal samples from a large cohort of children with ASD and typically developing (TD) controls. Differences in lipid, amino acid, and xenobiotic metabolism discriminate ASD and TD samples. We reveal correlations between specific metabolite profiles and clinical behavior scores, and identify metabolites particularly associated with GI dysfunction in ASD. These findings support a connection between GI physiology, metabolism, and complex behavioral traits, and may advance discovery and development of molecular biomarkers for ASD.

中文翻译：

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自闭症谱系障碍的血浆和粪便代谢物谱

自闭症谱系障碍（ASD）是一种神经发育疾病，具有明显的行为表现，包括社交沟通受损和重复行为受限。此外，许多受影响的个体显示出代谢失衡，免疫失调，胃肠（GI）功能障碍和肠道微生物组组成改变。我们试图通过确定外周组织中的分子标记来更好地理解ASD的非行为特征。本文中，我们介绍了来自ASD且典型的发育（TD）对照的一大批儿童的231血浆和97粪便样品的非靶向代谢组。脂质，氨基酸和异源代谢的差异可区分ASD和TD样品。我们揭示了特定代谢物谱与临床行为评分之间的相关性，并鉴定与ASD中GI功能障碍特别相关的代谢产物。这些发现支持了胃肠道生理，代谢和复杂行为特征之间的联系，并可能促进ASD分子生物标志物的发现和发展。