Deng Wenlin, Zou Xiaobing, Deng Hongzhu, Li Jianying, Tang Chun, Wang Xueqin, Guo Xiaobo
Children's Development Behavior Center, Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong, China.
Children's Development Behavior Center, Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong, China
J Child Neurol. 2015 Nov;30(13):1794-9. doi: 10.1177/0883073815580645. Epub 2015 Apr 14.
Autism spectrum disorders (ASD) comprise a heterogeneous group of neurodevelopmental disorders that have strong heritability. To better understand the heritable factors in twins with clinically diagnosed ASD and to discuss the relationship between social impairments and genetic and environmental factors. In last 13 years, over 12,000 cases of ASD were diagnosed in the children's development and behavior center, the authors review 37 pairs of these twins, in each pair, and at least 1 twin had been diagnosed with an ASD, and found that the concordance rate was 80% [95% confidence interval (CI) 51.9-95.7%] for monozygotic twins and 13.6% (95% CI: 2.9-34.9%) for dizygotic twins. The heritability of social impairments for ASD was 60.9% (95% CI: 47.3-74.5%). In addition, the rate of nonshared environmental factors was 39.1% (95% CI: 25.5-52.7%), and there were no shared environmental effects. Genetics and special environmental effect play an important role on ASD social impairments.
自闭症谱系障碍(ASD)是一组具有高度遗传性的异质性神经发育障碍。为了更好地理解临床诊断为ASD的双胞胎中的遗传因素,并探讨社交障碍与遗传和环境因素之间的关系。在过去13年中,儿童发育与行为中心诊断出超过12000例ASD病例,作者回顾了其中37对双胞胎,每对中至少有1名双胞胎被诊断为ASD,发现同卵双胞胎的一致率为80%[95%置信区间(CI)51.9 - 95.7%],异卵双胞胎的一致率为13.6%(95%CI:2.9 - 34.9%)。ASD社交障碍的遗传度为60.9%(95%CI:47.3 - 74.5%)。此外,非共享环境因素的比例为39.1%(95%CI:25.5 - 52.7%),不存在共享环境效应。遗传因素和特殊环境效应在ASD社交障碍中起重要作用。