脆性X综合征26例儿童临床特征  

Clinical characteristics of children with fragile X syndrome:a study of 26 cases

作　　者：唐春[1] 岑超群[1] 邹园园[1] 邹小兵[1] 陈争[2] 

机构地区：[1]中山大学附属第三医院儿童发育行为专科,广州510630 [2]中山大学中山医学院医学遗传学教研室

出　　处：《中国神经精神疾病杂志》2011年第10期588-590,共3页Chinese Journal of Nervous and Mental Diseases

基　　金：中山大学5010计划项目(编号:2007024)

摘　　要：目的分析脆性X综合征(fragile X syndrome,FXS)儿童的临床资料以探讨利于尽早进行实验室确诊的临床线索。方法对26例2～14岁首次确诊FXS的儿童详细临床资料进行回顾分析。结果首诊主诉主要为语言障碍和行为问题;症状行为发生率较高的有"语言障碍"、"智力差"、"孤独症样行为";12例(46.2%)有特殊面容和(或)体征;15例(57.7%)和11例(42.3%)首诊诊断分别为精神发育迟缓、孤独症;总智商从重度智力低下至边缘智力,平均(45.1±17.1),男女智商无统计学差异(t=1.16,P>0.05);均无癫痫发作,1例脑电图显示痫性放电。结论临床中应重视行为问题等病史询问及重视特殊体征的发现以减少漏诊,孤独症儿童可考虑常规进行FXS筛查。Objective To investigate the clinical features for early diagnoses of fragile X syndrome （FXS） through a detail analysis of the clinical data of children with FXS. Methods The detail clinical information of a total of 26 children with FXS aged 2 - 14 years were retrospectively investigated. Results Language problems and behavioral disorders were the two most common initial complaints. Language handicap, poor intelligence, autistic-like behaviors were the most common symptoms. Twelve （46.2%） children had special facial features and/or special physical signs; Fifteen （57.7%） and 11 （42.3%） children were diagnosed initially with mental retardation and autism, respectively; full intelligence quotient was between 25 - 73 with average 45.1 - 17.1. There was no significant difference in full intelli- gence quotient between boys and girls （P 〉 0.05） and electroencephalogram showed that no one had epileptic seizures and only one had epileptic brain waves. Conclusions Special attention should be given to history of behavioral problems and special physical features to avoid the misdiagnosis of FXS. Meanwhile, Autism should be evaluated routinely as a common co-morbidity in FXS.

关 键 词：脆性X综合征 临床特点 儿童 

分 类 号：R749.94[医药卫生—神经病学与精神病学]