宁夏地区全面发育迟缓/智力障碍患儿的遗传学病因分析

Genetic etiology analysis of children with developmental delay and intellectual disabilities in Ningxia region

目的了解宁夏地区全面发育迟缓/智力障碍(GDD/ID)患儿的遗传学病因,为疾病的早期诊断及干预提供依据。方法选取2018年1月-2023年2月就诊于银川市第一人民医院儿童康复科符合标准的GDD/ID患儿239例,年龄0~14岁,应用WES进行检测,收集阳性患儿和部分阴性患儿的临床资料进行归纳总结及统计分析。结果总共筛选出阳性患儿62例,总检出率为25.97%,包括12例CNV和50例SNV/indel。其中GDD 57例,ID 5例,男∶女比例为32∶30。阳性病例和部分阴性病例组面部小畸形(χ^(2)=26.07)、癫痫(χ^(2)=6.61)、大运动发育迟缓(χ^(2)=42.43)、肌张力异常(χ^(2)=17.90)、孤独症(χ^(2)=15.49)检出率比较,差异有统计学意义(P<0.05)。98.39%的阳性患儿有大运动发育迟缓。阳性CNV组、阳性SNV/indel组间智力障碍程度差异无统计学意义(P>0.05)。结论GDD/ID的病因复杂,遗传因素占比较多,对于合并有面部畸形、癫痫、大运动发育迟缓、肌张力异常的患儿行WES检测,可提高检出率,而对于合并孤独症的患儿检出率会降低。

Objective To understand the genetic etiology of children with global developmental delay(GDD)/intellectual disability(ID)in Ningxia region,in order to provide a basis for early diagnosis and intervention of the disease.Methods A total of 239 children with GDD/ID who met the standards and were treated in the Children′s Rehabilitation Department of the First People′s Hospital of Yinchuan City from January 2018 to February 2023,aged 0-14 years,were selected for testing using WES.Clinical data of positive and partially negative children were collected for summarization and statistical analysis.Results A total of 62 positive children were screened out,with an overall detection rate of 25.97%,including 12 cases of CNV and 50 cases of SNV/indel.Among them,there were 57 cases of GDD and 5 cases of ID,with a male to female ratio of 32∶30.Significant differences were observed in the main clinical phenotypes between positive and partially negative patients(P<0.05),including facial deformities(χ^(2)=26.07),epilepsy(χ^(2)=6.61),delayed motor development(χ^(2)=42.43),abnormal muscle tone(χ^(2)=17.90),and autism(χ^(2)=15.49).Totally 98.39%of positive children had delayed motor development.There was no significant difference in the degree of intellectual disability between the positive CNV group and the positive SNV/indel group(P>0.05).Conclusions The etiology of GDD/ID is complex,with a high proportion of genetic factors.WES testing can improve the detection rate for children with facial deformities,epilepsy,delayed motor development,and abnormal muscle tone,while the detection rate decreases for children with autism.