基层儿童智力低下的病因初探  

Exploring etiology of mental retardation for children in rural areas

作　　者：陈晓丽[1] 吕凌云[2] 王立文[2] 朱彦丽[2] 倪浩[2] 丁秀原[3] 徐放生[4] 林良明[5] 郭金[1] 张霆[1] 

机构地区：[1]首都儿科研究所分子免疫研究室,北京100020 [2]首都儿科研究所附属儿童医院神经科,北京100020 [3]首都儿科研究所遗传研究室,北京100020 [4]首都儿科研究所附属儿童医院新生儿科,北京100020 [5]首都儿科研究所流行病学研究室,北京100020

出　　处：《中国儿童保健杂志》2008年第2期136-138,共3页Chinese Journal of Child Health Care

基　　金：国家973项目<中国人口重大出生缺陷遗传和环境交互作用机理研究>(2007CB511900)中子课题<胚胎发育前瞻性队列和重大出生缺陷环境危险因素研究>(2007CB511901)资助

摘　　要：【目的】了解我国某农村地区儿童智力低下的病因,探索在基层开展智力低下(mental retardation,MR)病因诊断的可行性。【方法】对山西省吕梁地区2800个儿童进行智力筛查,MR确诊儿童进行体格检查、尿液筛查,问卷调查,部分患儿给予尿液色谱/质谱、染色体检查。【结果】共确诊237个MR患儿,男女比例为2.29∶1;其中MR病因明确者47例(19.8%),有重要诊断线索者81例(34.2%),病因不明者109例(46.0%);72名MR患儿同时伴有先天畸形,以耳发育畸形、小头畸形、多(少)指(趾)畸形为主,MR伴发畸形患儿倾向出现一些染色体病的面征:如丑陋面容、宽眼距等;33个有重要诊断线索MR患儿的染色体检查正常。【结论】在基层地区,结合病史、家族史、身体检查,可以对一部分MR患儿完成初步病因诊断,染色体检查仍是一些MR患儿的首选检查。[Objective] A baseline survey of children with mental retardation（MR） in a rural area of China was conducted to assess its etiology, then to explore a feasible diagnosis procedure for MR in rural areas. [Methods] 2 800 children in Lvliang region of Shanxi province were investigated. All patients with MR completed physical examination, urine screening and the questionnaire interview. GC-MS and chromosomal analysis were given only for some patients. [Results] Totally, 237 patients with MR were identified. The ratio of male to female was 2.29 ： 1. After having been enquired for their medical history and physical examination, 47 （19.8%） patients had got exact diagnosis, 81（34.2 % ） patients had got essential clues to the diagnosis, the causes of 109（46% ）patients were unknown. 72 patients, besides MR, had one or more congenital abnormalities, mainly including microcephaly, dysplastic ears, polydactyly or oligodactyly. In addition, their facial features, including coarse face, wide eye distance, high palatal arch, low-set ear, were different form the patients with non specific mental retardation. As to the chromosome of 33 patients with MR, they all showed normal. [Conclusions] In the rural area, only with medical history, family history and physical examination, the diagnosis for some children with MR are finished. In addition, chromosome analysis should be performed firstly for partial MR.

关 键 词：智力低下 发育迟缓 儿童 病因学 基层 

分 类 号：R749.94[医药卫生—神经病学与精神病学]