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(χ2=26.07)、癫痫(χ2=6.61)、大运动发育迟缓(χ2=42.43)、肌张力异常(χ2=17.90)、孤独症(χ2=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。
Abstract
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 (χ2 =26.07),epilepsy (χ2=6.61),delayed motor development (χ2=42.43),abnormal muscle tone (χ2=17.90),and autism (χ2=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.
关键词
全面发育迟缓 /
智力障碍 /
全外显子组测序
Key words
global developmental delay /
intellectual disability /
whole exome sequencing
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基金
银川市科技创新重大重点专项(2021-SF-006)
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