Williams综合征听力学表现及其发生机制的研究进展  

Research Advances on Audiological Characteristics and Mechanism inWilliams Syndrome

作　　者：李芳芳 季钗[1] LI Fangfang;JI Chai(Department of Child Health Care,Children's Hospital of Zhejiang University School of Medicine,National Clinical Research Center for Child Health,Hangzhou,Zhejiang 310003)

机构地区：[1]浙江大学医学院附属儿童医院儿童保健科,国家儿童健康与疾病临床医学研究中心,杭州310003

出　　处：《中华耳科学杂志》2021年第5期841-845,共5页Chinese Journal of Otology

摘　　要：Williams综合征(WilliamsSyndrome,WS)是由于基因微缺失所致累及多系统的神经发育障碍性疾病,该综合征患者普遍存在听力损失但在国内鲜少获得重视。本文从WS患者纯音测听、鼓室图、声反射、耳声发射、脑干听觉诱发电位等听力学测试表现来阐述其听力学特征,从遗传学、噪声保护机制角度解释可能的发生机制,并建议尽早开展WS患者的听力学随访。Williams Syndrome(WS)is a neurodevelopmental disorder affecting multiple systems and caused by microdeletion of genes.Hearing loss is common among this population,but has received little attention in China.In this study,audiological characteristics of WS are described,including pure tone audiometry,tympanogram,acoustic reflec-tion,otoacoustic emissions and auditory brainstem responses.This paper provides possible mechanisms from the per-spectives of heredity and noise protection.Audiological follow up as early as possible is recommended in WS.

关 键 词：WILLIAMS综合征 听力学 机制 

分 类 号：R764[医药卫生—耳鼻咽喉科]