病因不明型精神发育迟滞儿童1 088例发病相关因素分析

摘要

背景:儿童病因不明型的精神发育迟滞 (mental retardation,MR)与遗传因素、性别、环境因素有何关系? 目的:探讨病因不明型 MR发生的相关因素. 设计:以诊断为依据的横断面研究. 地点,对象和方法:研究对象为 1 500例 MR患者,主要来自南京及南京周边的城市和农村,年龄为 2个月～ 15岁. 采用韦氏智力评定,将 1 500例 MR患者按轻、中、重分组,对疑为脆性 X综合征患者进行染色体及脆性位点检查. 主要观察指标:受检 MR患者的病因分布,性别构成以及染色体及脆性位点检查. 结果:从 1 500例精神发育迟滞患者中共发现 1 088例病因不明 MR患者,对这 1 088例患者进行分析,中度智力低下所占比率较高( 51.68%),男性( 642例)多于女性( 446例). 1 088例患者中,共发现 112例 Fra(X)患者,其中 97%的 Fra(X)有 FMR-1基因突变. 结论:病因不明型 MR的发生有遗传因素的作用.%BACKGROUND: What is of the pathogeny of non-specific mental retardation(MR) with gene,gender,and circumstance factors in child? OBJECTIVE:To explore the effects of correlated factors in non- specific MR. DESIGN: Cross-sectional studies based on diagnosis. SETTING,SUBJECTS AND METHODS:Totally 1 500 mentally retarded children mainly came from Nanjing and the nearby cities and countries, aged from 2 months to 15 years.They were divided into slight, moderate and serious imbecile group by WISC.The chromosome and fragile site were examined for the children suspected of fragile X syndrome. MAIN OUTCOME MEASURES:The pathogeny distribution,gender constitution,chromosome, and fragile site were examined for these MR patients. RESULTS:Analysis on the 1 088 cases of non-specific MR among 1 500 patients showed that the proportion of moderate imbecile children is higher( 51.68%) and mentally retarded boys(642)were more than mentally retarded girls(446).Among the 1 088 patients, l12 cases of fragile X syndrome were found,and 97% of them were FMR-l gene mutation sufferers. CONCLUSION:Pathogeny of non-specific mentally retardation is associated with genetic factors.