全面性发育迟缓患儿的染色体分析及预后危险因素研究  

Study on chromosomal analysis and risk factors of prognosis in children with global developmental delay

作　　者：陈玲[1] 崔玲玉 王泽熙 檀晓娜 岳玲[1] CHEN Ling;CUI Lingyu;WANG Zexi;TAN Xiaona;YUE Ling(Department of Neurorehabilitation,Hebei Children′s Hospital,Shijiazhuang 050000,China)

机构地区：[1]河北省儿童医院神经康复科,河北石家庄050000

出　　处：《西部医学》2023年第12期1817-1821,共5页Medical Journal of West China

基　　金：河北省医学科学课题研究计划项目(20211006)。

摘　　要：目的探讨全面性发育迟缓(GDD)患儿染色体特征,并分析患儿预后的影响因素。方法选取2018年1月—2021年5月河北省儿童医院收治的181例GDD患儿作为观察对象,全部患儿均接受全外显子测序+拷贝数变异(CNVs)检测,对患儿染色体进行分析。全部患儿随访1年,依据患儿预后将其分为预后不良组与预后良好组,比较两组患儿基线资料,分析GDD患儿预后的影响因素。结果181例GDD患儿中检出非良性CNVs 59例,检出率为32.60%(其中致病性CNVs为25.41%,可能致病性CNVs为5.52%,临床意义不明CNVs为1.66%);良性CNVs为67.40%。随访1年,181例患儿经治疗后预后不良142例(78.45%)。预后不良组患儿首诊年龄高于预后良好组,新生儿黄疸、早产、新生儿缺血缺氧性脑病(HIE)、致病性CNVs占比高于预后良好组,差异有统计学意义(P<0.05);两组性别、出生方式、宫内感染等基线资料比较,差异无统计学意义(P>0.05)。经Logistic回归分析结果显示,首诊年龄高、新生儿黄疸、早产、HIE、致病性CNVs是GDD患儿预后不良的危险因素(OR>1,P<0.05)。结论经全外显子测序+CNVs进行染色体分析可明确GDD患儿遗传学病因,且GDD患儿预后的可能危险因素为首诊年龄、新生儿黄疸、早产、HIE及致病性CNVs。Objective To investigate the chromosomal characteristics of children with global developmental delay(GDD)and analyze the influencing factors of prognosis of children.Methods 181 children with GDD admitted to Children’s Hospital of Hebei Province from January 2018 to May 2021 were selected as the research subjects.All the children received whole exome sequencing+copy number variations(CNVs)detection,and their chromosomes were analyzed.All children were followed up for 1 year,and were divided into poor prognosis group and good prognosis group according to their prognosis.The baseline data of children in the two groups were compared to analyze the influencing factors of prognosis of GDD children.Results CNVs were detected in 59 of 181 children with GDD.The detection rate was 32.60%.Among them,the pathogenic CNVs were 25.41%,the probable pathogenic CNVs were 5.52%,the clinically unknown CNVs were 1.66%,and the benign CNVs were 67.40%.After 1 year follow-up,142(78.45%)of 181 children had poor prognosis after treatment.The age of first diagnosis in the poor prognosis group was higher than that in the good prognosis group,and the proportion of neonatal jaundice,premature delivery and neonatal hypoxic ischemic encephalopathy(HIE).The pathogenic CNVs in the poor prognosis group was higher than that in the good prognosis group,the difference was statistically significant(P<0.05).There was no statistical significant difference in other baseline data between groups(P>0.05).Through Logistic regression analysis,the results showed that,old age at first diagnosis,neonatal jaundice,premature delivery,HIE and pathogenic CNVs were the risk factors for poor prognosis in children with GDD(OR>1,P<0.05).Conclusion Chromosomal analysis by whole exome sequencing+CNVs can identify the genetic etiology of GDD children,and the possible risk factors for the prognosis of GDD children are age at first diagnosis,neonatal jaundice,preterm birth,HIE and pathogenic CNVs.

关 键 词：全面性发育迟缓 全外显子测序 拷贝数变异 染色体分析 预后 影响因素 

分 类 号：R179[医药卫生—妇幼卫生保健]