精神发育迟滞儿童伴随症状与病因分析

Concomitant symptoms and etiology analysis of mental retardation children

目的分析精神发育迟滞（MR）的病因、伴随症状及分级的关系,为精神发育迟滞的诊治及预防奠定基础。方法 2003年1月至2006年12月在首都儿科研究所附属儿童医院神经内科就诊的精神发育迟滞患儿共1329例,对其精神发育迟滞的分级、伴随症状及病因进行分析。结果 1329例MR患儿年龄6个月~15岁,平均（3.15±3.12）岁;男女比例为1.88∶1。非特异精神发育迟滞患儿组伴有惊厥及姿势/肌张力异常的发生率明显高于伴有畸形的精神发育迟滞患儿（P〈0.05）;精神发育迟滞伴有畸形的患儿组,重度MR明显多于非特异精神发育迟滞患儿组（P〈0.05）。精神发育迟滞伴有畸形的患儿组病因不明者显著多于非特异精神发育迟滞患儿组（P〈0.05）;在非特异精神发育迟滞患儿组内,病因明确的MR患儿为重度者明显多于病因不明的重度MR患儿（P〈0.05）;在精神发育迟滞伴有畸形的患儿组内,其病因明确否与MR分级无显著相关性（P〉0.05）,其病因以染色体病最多,有65.37%的病例病因不明。结论对于精神发育迟滞合并畸形的患儿首选染色体检查,对于合并有惊厥及姿势/肌张力异常的患儿应考虑染色体病以外的疾病,重度非特异精神发育迟滞患儿较轻度MR患儿容易找到病因。

Objective To investigate the relationship in the concomitant symptoms, etiology and classification of mental retardation（MR） children. Methods 1329 children in Capital Institute of Pediatrics with the clinical diagnosis of MR from January 2003 to December 2006 were analyzed retrospectively. Results The ration between male and female was 1.88 to 1.0. The mean age was 3.15±3.12 years old. The youngest patient was 6 months old. The oldest one was 15 years old. The MR children classification of known causes in non-specific mental retardation children were mostly severe in disease severity （P 0.05）. The incidence of convulsion and abnormal posture/muscular tone in non-specific MR chil- dren was significantly higher than that in MR children with dysmorphism （P 0.05）. Severe MR children and unknown causes with dysmorphism were significantly higher than that in non-specific MR children （P 0.05）. However, in MR children with dysmorphism, the classification of known causes and unknown causes showed no significant differences （P 0.05）. Chromosome disorder was most common in MR children with dysmorphism; the cause of 65.37% cases was unknown. Conclusions For MR children with dysmorphism, karyotype analysis should be done as the first step examination. For mental retardation children with convulsion and abnormal posture/muscular tone, other disorders besides chromosome disorder should be considered. The possibility of discovering the etiology of MR is high in children with severe MR of non-specific MR children.