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.
Key words
global developmental delay /
intellectual disability /
whole exome sequencing
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