当期文章

昼夜节律紊乱与神经发育障碍

刘登峰, 张逸淳, 李家大^*

中南大学生命科学学院医学遗传学研究中心，长沙 410078

摘要

神经发育障碍(neurodevelopmental disorders, NDDs)，如孤独症谱系障碍(autism spectrum disorder, ASD)、注意力缺陷多动障碍(attention deficit hyperactivity disorder, ADHD)和智力发育障碍(intellectual developmental disorder, IDD)，发病率高且无有效治疗手段，成为一个重大的健康挑战。NDDs时常伴随睡眠节律紊乱，睡眠节律相关指标甚至被用作衡量疾病严重程度及治疗效果的重要参数。近期研究还显示，昼夜节律紊乱及生物钟基因突变在NDDs发病机制中起到关键作用。本综述重点探讨了昼夜节律紊乱及生物钟基因突变通过多巴胺系统导致NDDs相关认知、行为和情绪障碍的机制。此外，我们还讨论了靶向昼夜节律系统治疗NDDs的潜力价值。

关键词： 昼夜节律; 神经发育障碍; 多巴胺系统

Circadian rhythm disturbances and neurodevelopmental disorders

LIU Deng-Feng, ZHANG Yi-Chun, LI Jia-Da^*

Center for Medical Genetics, School of Life Sciences, Central South University, Changsha 410078, China

Abstract

Neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), and intellectual developmental disorder (IDD), are highly prevalent and lack effective treatments, posing significant health challenges. These disorders are frequently comorbid with disruptions in sleep rhythms, and sleep-related indicators are often used to assess disease severity and treatment efficacy. Recent evidence has highlighted the crucial roles of circadian rhythm disturbances and circadian clock gene mutations in the pathogenesis of NDDs. This review focuses on the mechanisms by which circadian rhythm disruptions and circadian clock gene mutations contribute to cognitive, behavioral, and emotional disorders associated with NDDs, particularly through the dysregulation of dopamine system. Additionally, we discussed the potential of targeting the circadian system as novel therapeutic strategies for the treatment of NDDs.

Key words: circadian rhythms; neurodevelopmental disorders; dopamine systems

收稿日期：　　录用日期：

通讯作者：李家大　　E-mail:

DOI: 10.13294/j.aps.2025.0065

引用本文：

刘登峰, 张逸淳, 李家大. 昼夜节律紊乱与神经发育障碍[J]. 生理学报 2025; 77 (4): 678-688.

LIU Deng-Feng, ZHANG Yi-Chun, LI Jia-Da. Circadian rhythm disturbances and neurodevelopmental disorders. Acta Physiol Sin 2025; 77 (4): 678-688 (in Chinese with English abstract).