Sleep disturbance in Angelman syndrome patients

作者全名："Qu, Song; Wang, Junyi; Guan, Xingying; Song, Cui; Wang, Yanyan"

作者地址："[Qu, Song; Wang, Junyi; Guan, Xingying; Wang, Yanyan] Third Mil Med Univ, Army Med Univ, Coll Basic Med Sci, Dept Med Genet, Chongqing, Peoples R China; [Song, Cui] Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders, Dept Endocrinol & Genet Metab Dis, Minist Educ,Key Lab Child Dev & Disorders,Chongq, Chongqing, Peoples R China"

通信作者："Wang, YY (通讯作者)，Third Mil Med Univ, Army Med Univ, Coll Basic Med Sci, Dept Med Genet, Chongqing, Peoples R China.; Song, C (通讯作者)，Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders, Dept Endocrinol & Genet Metab Dis, Minist Educ,Key Lab Child Dev & Disorders,Chongq, Chongqing, Peoples R China."

来源：ORPHANET JOURNAL OF RARE DISEASES

ESI学科分类：CLINICAL MEDICINE

WOS号：WOS:001197409300001

JCR分区：Q2

影响因子：3.4

年份：2024

卷号：19

期号：1

开始页：　

结束页：　

文献类型：Review

关键词：Angelman syndrome; Sleep disturbance; Imprinting disorder

摘要："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."

基金机构：National Natural Science Foundation of China

基金资助正文：Not applicable.