Angelman综合征的治疗研究进展  

Progress on the treatment of Angelman syndrome

作　　者：王玉玺 钟敏[1,2] Wang Yuxi;Zhong Min(Department of Rehabilitation,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 Child Neurodevelopment and Cognitive Disorders,Chongqing 400014,China;Department of Rehabilitation,Jiangxi Hospital Affiliated to Children's Hospital of Chongqing Medical University,Jiangxi Children's Medical Center,Nanchang 330108,China)

机构地区：[1]重庆医科大学附属儿童医院康复科,国家儿童健康与疾病临床医学研究中心,儿童发育疾病研究教育部重点实验室,儿童神经发育与认知障碍重庆市重点实验室,400014 [2]重庆医科大学附属儿童医院江西医院,江西省儿童医学中心康复科,南昌330108

出　　处：《国际儿科学杂志》2025年第3期160-164,共5页International Journal of Pediatrics

基　　金：国家重点研发计划项目(2023YFC3604800)。

摘　　要：Angelman综合征(Angelman syndrome,AS)是一种由于母源染色体15q11~13区域的UBE3A基因表达异常或功能缺陷引发的神经发育障碍性疾病。主要表现为发育迟滞、语言障碍、运动或平衡障碍、快乐行为(频繁发笑、微笑或兴奋)、小头畸形、癫痫等。目前AS的治疗主要为对症及支持治疗,而关于该病的特异性治疗正不断取得新的进展,包括小分子化合物及基因治疗等方面,该文从这两方面对AS的治疗进展做出综述。Angelman syndrome(AS)is a neurodevelopmental disorder caused by abnormal expression or functional deficiency of the UBE3A gene in the maternal chromosome 15q11~13 region.The main clinical manifestations include developmental delay,speech impairment,motor or balance disorders,happy behaviors(frequent laughing,smiling,or excitability),microcephaly,and epilepsy.Currently,the treatment of AS is primarily symptomatic and supportive.However,significant progress is being made in the development of targeted therapies,including small-molecule compounds and gene therapy.This article reviews the advances in AS treatment from these two perspectives.

关 键 词：ANGELMAN综合征 UBE3A 基因治疗 小分子化合物 

分 类 号：R725.9[医药卫生—儿科]