无高危因素的精神发育迟滞患儿遗传代谢病的筛查及随访

Screening and Follow-up of Congenital Metabolic Abnormalities of Children with Mental Retardation without High Risk Factors

目的了解无高危因素精神发育迟滞患儿遗传代谢病的发生率及确诊病例的随访情况。方法采用串联质谱法,2009年2月—2011年12月对28例无高危因素的精神发育迟滞患儿进行遗传代谢病筛查,给予相应治疗,并定期随访及监测神经系统和全身生长发育,进行针对性智能和体能训练。结果 28例无高危因素的精神发育迟滞患儿中,确诊遗传代谢病7例(25.0%),其中甲基丙二酸血症3例(42.8%),戊二酸血症Ⅰ型1例(14.3%),苯丙酮尿症1例(14.3%),线粒体脑肌病1例(14.3%),糖代谢障碍1例(14.3%)。定期随访及监测神经系统发育情况,2例反复发生酸中毒需静脉补充碱性液缓解症状,智力及运动发育进行性落后;其余5例经治疗暂无临床症状,但精神运动发育迟滞。未确诊遗传代谢病的21例患儿,经定期专业康复训练,智力发育及运动发育情况明显改善。结论无高危因素的精神发育迟滞患儿应尽早进行遗传代谢病筛查,确诊病例并及早干预预后较好。

Objective To investigate the rate of genetic metabolic diseases of children with mental retardation without high risk factors and to understand the follow - up of the confirmed cases. Methods 28 children with mental retardation without high risk factors admitted to our hospital from February 2009 to December 2011 were given genetic metabolic disease screening by using tandem mass spectrometry. All the patients were given corresponding treatment and were followed up by monitoring nervous system and the growth and development of the whole body. Targeted intelligence and physical training were also provided. Results Among the 28 children with mental retardation without high risk factors, 7 cases were confirmed as genetic metabolic disease （25.0%）, including 3 cases of methylmalonic acidemia （42. 8% ）, one case of glutaric acidemia （ 14. 3% ）, one case of phenylketonuria （ 14. 3% ）, one case of mitochondrial encephalomyopathy （ 14. 3% ） and one case of carbohydrate metabolism disorder （ 14. 3% ） . Follow - up and monitoring of nervous system showed that 2 cases had recurring acidosis and needed alkali solution to alleviate the symptoms and the backward intelligence and motor development. The other 5 cases showed no clinical symptoms after treatment but had psychomotor retardation. The intellectual development and motor development of the 21 cases that were not confirmed as genetic metabolic disease were significantly improved after regular professional rehabilitation train- ing. Conclusion Children with mental retardation without high risk factors should participate in genetic metabolic disease screening as soon as possible. The earlier the diagnosis and intervention are, the better the long - term outcomes will be.