目的 分析58对孤独症谱系障碍(ASD)双胞胎临床特点及同病率,以及其遗传规律和影响因素。方法 收集1999-2015年就诊于中山大学附属第三医院发育行为中心的ASD双胞胎,对随访的58对ASD双胞胎临床资料进行总结分析,其中至少1名双胞胎诊断为ASD,通过统计描述,使用R软件进行分析同病率。结果 双胞胎出生体重较低,胎龄较小,围生期有较多高危因素;同卵双胞胎的同病率为73.68%,异卵双胞胎的同病率为12.82%,差异具有统计学意义(χ2＝18.81,P<0.001)。结论 ASD双胞胎同卵双胞胎具有较高的同病率,提示遗传因素是其重要病因。
Abstract
Objective To analyze the clinical characteristics and the concordance rates of 58 pairs of ascertained autism spectrum disorder(ASD) and to discuss their genetic patterns and risk factors. Methods ASD twins were collected from Children's Development Behavior Center, the Third Affiliated Hospital of Sun Yat-sen University in 1999-2015. Totally 58 pairs of ASD twins in the follow-up program were analyzed,and at least 1 twin had been diagnosed with an ASD in each pair. R software was used to analyze data. Results The birth weight of twins was lower,the gestational age was lower,the perinatal period had more risk factors. The concordance rates of monozygotic twins was 73.68%,while 12.82% for dizygotic twins,and the difference was statistically significant(χ2=18.81,P＜0.01). Conclusion ASD monozygotic twins have high concordance rates,indicating that the genetic factors are one of the important etiology.
关键词
孤独症谱系障碍 /
遗传 /
双胞胎 /
同病率
Key words
autism spectrum disorder /
genetics /
twins /
concordance rate
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基金
广东省省级产业技术研究与开发专项资金项目(20160914)
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