Copy number variation and neural pathway analysis of children with autism spectrum disorder from a large Han Chinese population-based cross-sectional study

Publication date: July 2018 Source:Research in Autism Spectrum Disorders, Volume 51 Author(s): You Yang, Zhijuan Jin, Jian Wang, Shijian Liu, Hong Huang, Xingming Jin Certain genetic events can be attributed to copy number variations (CNVs). A population in Shanghai, China was screened for autism spectrum disorder (ASD), and their CNV characteristics and possible associations with neural pathways were analyzed. A multi-stage stratified cluster sampling method was used to evaluate 3- to 12-year-old children from the general population who were in kindergarten and primary school in Shanghai. DNA samples were obtained from 133 ASD cases from preparatory ASD screening. An Affymetrix Cytoscan 750k array was used for copy number variant detection. Among the 711 children who had positive results on a survey completed by both their parents and teachers, a total of 663 (93.2%) children underwent diagnostic evaluation. Of these, 203 children were confirmed to have ASD, including 163 (80.3%) children from special education schools, 29 (14.3%) children from general kindergartens, and 11 (5.4%) children from general primary schools. Final consent had been given for blood collection, and 15 CNVs that may contribute to ASD in 133 cases were identified. The mean ages at which the ASD children with and without pathogenic CNVs (pCNVs) began to speak were 45.6 months and 29.2 months, respectively (t = 2.452, P = 0.016), and the ages of walking alone were 33.9 months and ...
Source: Research in Autism Spectrum Disorders - Category: Psychiatry Source Type: research