关键词: 智力障碍, 癫痫, 基因组拷贝数变异, 遗传病学

Abstract: Objective To analyze the clinical features and copy number variants (CNVs) of intellectual disabilities-epilepsy (ID-E), so as to provide basis for clinical treatment of the disease. Methods From January 2013 to January 2017, 60 children with ID-E admitted to Tangshan Maternal and Child Health Hospital were enrolled in the study, and their general clinical data were collected. Meanwhile, peripheral blood samples were collected from the children and their parents for whole exome CNVs testing, and the data were analyzed. Results Children with ID-E included in this study were mainly male (61.67%), aged 1 to 3 years (31.67%), with normal or slightly higher BMI (93.33%), with normal birth weight (86.67%), born naturally (90.00%). Moreover, most children with ID-E in this study were with severe ID impairment (83.33%), mainly characterized by growth retardation (76.67%) and expressive language disorder (68.33%).Therapeutic agents mainly included sodium valproate, and 31 children (51.67%) received dual therapy. The rate of better prognosis was 46.67%. Six (10.00%) of the 60 children with ID-E were detected with abnormal CNVs, including 2 cases diagnosed with known syndrome (Wolf-Hirschhorn syndrome, Smith-Magenis syndrome), 2 cases with pathogenic CNVs, 1 with CNVs, and 1 with clinically unknown CNVs. Parental origin analysis showed that the cause of clinically unknown CNVs was maternal, and the others were new mutations. Conclusions Children with ID-E have certain clinical characteristics. CNVs can be used as an important detection method for genetic epidemiological analysis of etiological factors of ID-E, which can help to clarify the cause of ID-E and guide the diagnosis and treatment.

Key words: intellectual disabilities, epilepsy, genomic copy number variants, genetic epidemiology