脆性X综合征药物治疗进展

doi:10.11852/zgetbjzz2022-0958

中国儿童保健杂志 ›› 2023, Vol. 31 ›› Issue (2): 180-184.DOI: 10.11852/zgetbjzz2022-0958

脆性X综合征药物治疗进展

梅练妮, 胡纯纯, 徐琼

复旦大学附属儿科医院儿童保健科,上海 201102

收稿日期:2022-08-04 修回日期:2022-11-24 发布日期:2023-02-16 出版日期:2023-02-10
通讯作者: 徐琼,E-mail:xuqiong@fudan.edu.cn
作者简介:梅练妮(1997-),女,四川人,在读硕士研究生,主要研究方向为儿童神经发育障碍性疾病。
基金资助:
高端外国专家引进计划项目(G2022132004L);上海市临床重点专科项目(shslczdzk02903)

Progress in drug therapy for fragile X syndrome

MEI Lian-ni, HU Chun-chun, XU Qiong

Department of Child Health Care, Children′s Hospital of Fudan University, Shanghai 201102, China

Received:2022-08-04 Revised:2022-11-24 Online:2023-02-10 Published:2023-02-16
Contact: XU Qiong, E-mail:xuqiong@fudan.edu.cn

摘要/Abstract

摘要： 脆性X综合征(FXS)是一种神经发育障碍性疾病,是遗传性智力障碍最常见的病因,也是孤独症谱系障碍最主要的单基因缺陷。FXS主要表现为认知障碍、特殊面容、行为问题及其他多系统异常。本文综述针对FXS异常神经生物机制进行调节的药物,以期提供相应药物治疗FXS有效性与安全性的汇总数据。

关键词: 脆性X综合征, 药物治疗, 神经发育障碍

Abstract: Fragile X syndrome (FXS) is a neurodevelopmental disorder that is the most common inherited cause of intellectual disability(ID) and the most prevalent monogenic cause of autism spectrum disorder (ASD). FXS is characterized by cognitive deficits, special facial features, behavioral problems and other multi-system abnormalities. This review combs the drugs that regulate abnormal neurobiology of FXS, in order to provide integrative data of the efficacy and safety of drugs therapy in FXS treatment.

Key words: fragile X syndrome, drug therapy, neurodevelopmental disorder

中图分类号:

R741

梅练妮, 胡纯纯, 徐琼. 脆性X综合征药物治疗进展[J]. 中国儿童保健杂志, 2023, 31(2): 180-184.

MEI Lian-ni, HU Chun-chun, XU Qiong. Progress in drug therapy for fragile X syndrome[J]. Chinese Journal of Child Health Care, 2023, 31(2): 180-184.

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脆性X综合征药物治疗进展

Progress in drug therapy for fragile X syndrome

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