The overall autism spectrum disorder (ASD) prevalence has increased in the past two decades.. There are no medications that treat the core symptoms of ASD individuals whereas the symptom severity could be mitigated through early psychological approaches and behavioral intervention. In this review, we aim to summarize the potential biomarkers of ASD, including cellular pathways and brain mechanisms. Currently, many risk genes and atypical protein or neurotransmitter levels have been reported in ASD individuals. Altered brain structures and neuro mechanisms have been identified by brain imaging and electroencephalogram. Although there are still no diagnostic biomarkers to date, these results expanded our understanding of biological mechanisms in autism, which could help early screening and support the development of clinical interventions.

近二十年来,孤独症谱系障碍的患病比例持续呈现出递增的趋势.目前对孤独症的治疗没有特效药,但早期心理和行为干预可以改善患者的特定行为,减轻症状的严重程度.因此,早期筛查与鉴别对孤独症人群开展早期干预非常重要.本文从细胞通路和脑神经机制两方面介绍孤独症早期鉴别生物标记物的研究成果.目前已经发现多种潜在致病基因、异常蛋白水平、神经递质缺损或增多等细胞通路异常.通过脑成像和脑电波技术发现孤独症人群存在特殊的脑结构和异常的脑机制.尽管生物标记物的研究成果暂时还无法独立应用于孤独症的直接诊断,但其进一步加深研究者对孤独症生理病理机制的认识,对孤独症早期筛查和辅助治疗有着很大潜力.

国家自然科学基金项目(批准号:31971009);; 中国科学院青年创新促进会的资助