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【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】 To understand the etiopathogenesis of mental retardation in children in a rural area in China and to explore the feasibility of diagnosing the cause of mental retardation (MR) at the grassroots level. 【Methods】 2800 children in Luliang region of Shanxi Province were subjected to intelligence screening. The children with MR diagnosed were examined by physical examination, urine screening and questionnaire survey. Some children were given urine chromatography / mass spectrometry and chromosomal examination. 【Results】 A total of 237 MR patients were diagnosed. The ratio of male to female was 2.29:1. There were 47 cases (19.8%) with MR etiology, 81 cases (34.2%) with important diagnostic clues, 109 cases (46.0% ); 72 MR children accompanied by congenital malformations, with ear developmental deformity, microcephaly, more (less) finger deformity mainly in children with MR associated with abnormalities tend to have some signs of chromosomal disease: such as Ugly face, wide eye distance, etc .; 33 have important diagnostic clues MR in children with normal chromosomal examination. 【Conclusion】 In the grassroots area, preliminary etiological diagnosis can be performed on some children with MR, combined with medical history, family history and physical examination. Chromosome examination is still the first choice for some MR patients.