广州市病残鉴定阶段性回顾研究

Periodical Review of Medical Authentication Results of Disabled Children in Guangzhou

目的:分析2006-2015年广州市神经系统疾病或精神行为障碍病残儿病种顺位、主要病种每年构成情况及其中遗传性疾病的构成情况,为病残儿家庭再生育提供优生监测依据。方法:选取2006年1月-2015年12月广州市3 964例病残儿的鉴定资料进行回顾性分析,其中神经系统疾病或精神行为障碍1 867例(47.10%)。分析1 867例神经系统疾病或精神行为障碍病残儿病种顺位和主要病种每年构成情况。分析神经系统疾病或精神行为障碍病残儿中908例遗传性疾病的构成情况。结果:1 867例神经系统疾病或精神行为障碍前5位病种顺位为孤独谱系障碍(31.01%)、智力低下或精神神经发育迟缓(29.67%)、脑瘫(13.12%)、癫痫(10.50%)及染色体病(6.37%)。2006-2015年孤独症谱系障碍构成比为12.93%~47.49%,其中2006-2010年每年构成比<25%,而2011-2015年每年构成比>36%,2011年高达47.49%。2006-2015年染色体病构成比为3.04%~12.12%,每年占比较小。908例遗传性疾病中多基因遗传病778例(85.68%)占比最高,其次为染色体病119例(13.11%)、单基因遗传病10例(1.10%)及线粒体病1例(0.11%)。结论:2006-2015年广州市孤独谱系障碍、智力低下或精神神经发育迟缓等病残儿占比较高,且孤独谱系障碍患儿有上升趋势,多基因遗传病在遗传性疾病中占比最高,需做好出生缺陷三级防控,积极开展婚前、孕前优生健康检查、备孕期积极治疗基础疾病,孕期适时监测孕妇健康状况、落实产前筛查和高危人群的产前诊断,早期干预新生儿重大疾病,对减少神经系统疾病或精神行为障碍病和遗传性疾病的发生将起到积极的作用。

Objective:To analyze the disease sequence,annual composition of major diseases and hereditary disease of disabled children with nervous system diseases or mental and behavioral disorders in Guangzhou from 2006 to 2015,so as to provide eugenics monitoring basis for family reproduction of disabled children.Method:The identification data of 3 964 disabled children in Guangzhou from January 2006 to December 2015 were retrospectively analyzed,including 1 867 cases (47.10%) of nervous system diseases or mental and behavioral disorders.The sequence of diseases and the annual composition of major diseases in 1 867 disabled children with nervous system diseases or mental and behavioral disorders were analyzed.The composition 908 cases of hereditary diseases in the disabled children with nervous system diseases or mental and behavioral disorders were analyzed.Result:In 1 867 cases of nervous system diseases or mental and behavioral disorders,the top five diseases were autism spectrum disorder (31.01%),mental retardation or mental retardation (29.67%),cerebral palsy (13.12%),epilepsy (10.50%) and chromosomal diseases (6.37%).From 2006 to 2015,the constituent ratio of autism spectrum disorders was 12.93%-47.49%,in which the annual constituent ratio of 2006-2010 was less than 25%,while that of 2011-2015 was more than 36%,and it was as high as 47.49% in 2011.From 2006 to 2015,the proportion of chromosomal diseases was 3.04%-12.12%,which was relatively small every year.Among 908 cases of hereditary diseases,778 cases (85.68%) were polygenic genetic diseases,followed by 119 cases (13.11%) of chromosomal diseases,10 cases (1.10%) of monogenic genetic diseases and 1 case (0.11%) of mitochondrial diseases.Conclusion:From 2006 to 2015,Guangzhou had a high proportion of children with autism spectrum disorder,mental retardation or mental retardation,and the children with autism spectrum disorder has an upward trend,polygenetic diseases accounted for the highest proportion of hereditary diseases.Three levels of birth defects prevention and control were needed.Health examination and preparation for pre marriage and pre pregnancy were actively carried out,and basic diseases should be actively treated during pregnancy and supervised in time during pregnancy.It will play a positive role in reducing the occurrence of nervous system disease or mental behavior disorder and hereditary disease by measuring pregnant women’s health status,implementing prenatal screening and prenatal diagnosis of high-risk population,and intervening in major diseases of newborn in the early stage.