Department of Medical Genetics, College of Basic Medical Science, Army Medical University (Third Military Medical University), Chongqing, China.
Department of Endocrinology and Genetic Metabolism Disease, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, Chongqing, China.
Orphanet J Rare Dis. 2024 Apr 5;19(1):146. doi: 10.1186/s13023-024-03154-5.
Angelman syndrome (AS) is a neurodevelopmental disorder caused by abnormal expression of the maternal ubiquitin protein ligase E3A gene (UBE3A). As one of the most challenging symptoms and important focuses of new treatment, sleep disturbance is reported to occur in 70-80% of patients with AS and has a serious impact on the lives of patients and their families. Although clinical studies and animal model studies have provided some clues, recent research into sleep disorders in the context of AS is still very limited. It is generally accepted that there is an interaction between neurodevelopment and sleep; however, there is no recognized mechanism for sleep disorders in AS patients. Accordingly, there are no aetiologically specific clinical treatments for AS-related sleep disorders. The most common approaches involve ameliorating symptoms through methods such as behavioural therapy and symptomatic pharmacotherapy. In recent years, preclinical and clinical studies on the targeted treatment of AS have emerged. Although precision therapy for restoring the UBE3A level and the function of its signalling pathways is inevitably hindered by many remaining obstacles, this approach has the potential to address AS-related sleep disturbance.
安琪曼综合征（AS）是一种神经发育障碍，由母源泛素蛋白连接酶 E3A 基因（UBE3A）异常表达引起。睡眠障碍是 AS 患者最具挑战性的症状之一，也是新治疗方法的重要关注点，据报道，70-80%的 AS 患者存在睡眠障碍，这对患者及其家庭的生活造成了严重影响。尽管临床研究和动物模型研究提供了一些线索，但目前针对 AS 睡眠障碍的研究仍然非常有限。人们普遍认为神经发育和睡眠之间存在相互作用；然而，AS 患者睡眠障碍的发病机制尚未得到认可。因此，针对 AS 相关睡眠障碍尚无病因特异性的临床治疗方法。最常见的方法是通过行为疗法和对症药物治疗等方法来改善症状。近年来，针对 AS 的靶向治疗的临床前和临床研究已经出现。尽管通过恢复 UBE3A 水平及其信号通路的功能来进行精准治疗不可避免地受到许多尚未解决的障碍的阻碍，但这种方法有可能解决 AS 相关的睡眠障碍。
