208例智力低下儿童病因分析及预防对策

Aetiological spectrum analysis of 208 patients with mental retardation and prevention stratigies

目的选择合理的辅助检查方法,分析智力低下儿童的病因谱构成,并为智力低下的预防提供依据。方法就2011年1月~2013年6月在青岛市妇女儿童医院神经康复科就诊的208例智力低下患儿的临床症状、检查结果进行回顾性总结,分析病因谱的构成。结果智力低下儿童中病因不明者最多92例（44.23%）。其次是围产期因素41例（19.71%）。遗传性疾病包括染色体病、染色体微缺失综合征、遗传性白质脑病、某些已知综合征居第3位。病因明确和病因不明两组患儿间智商/发育商分级也有显著差异。病因不明组患儿中轻度低下的比例显著多于病因明确组。结论丰富深厚的临床经验、全面仔细的查体、选择合理的辅助检查是智力低下儿童病因诊断的法宝,为遗传咨询、产前诊断、三级预防提供确切依据。

Objective： To choose reasonable auxiliary examination methods to analyze the aetiological spectral composition of the children with mental retardation, and to provide the basis for the prevention of mental retardation. Methods： 208 patients with MR attending Qingdao Women and Children Hospital Neurological Rehabilitation Dep.from January 2011 to June 2013 were retrospectively studied with clinical symptoms, examination results. The aetiological spectrum was established. Results： Main etiological spectrum of MR children were as follows： 92 cases with unknomn causes （44.23%） , followed by perinatal factors, 41 cases （19.71%） , hereditary diseases, including chromosomal disease, chromosomal microdeletion syndrome, hereditary leukoencephalopathy, and some known syndromes ranks third. Case groups with clear causes and unknown causes in the children with mild and severe MR wre significantly different. Conclusion： A wealth of clinical experiences, comprehensive careful examination, a reasonable choice of auxiliary examination were the magic of aetiologic diagnosis of MR, providing the basis for genetic counseling, prenatal diagnosis and prevention.