34对孤独症谱系障碍双生子遗传及影响因素研究

发布时间：2018-04-12 18:12

本文选题：孤独症谱系障碍 + 双生子　；参考：《中山大学》2012年硕士论文

【摘要】：一、研究背景：孤独症谱系障碍（ASD）是一组具有显著异质性的神经系统发育性疾病，病因复杂，目前多数研究认为遗传因素是主要的病因，且多基因遗传可能性大。ASD核心症状包括交流障碍、社会交往障碍和狭隘兴趣、重复刻板行为；社交障碍作为ASD的核心症状，被认为是在三大主症中具有最高遗传度的因素。孤独症患病率男性明显多于女性，亦提示遗传病因方面在性别可能存在差异。二、研究目的：本课题研究34对双生子，其中每对双生子中至少有一人被诊断为ASD，通过比较ASD双生子的社交障碍的差异以及患儿所处环境因素特点，研究ASD社交障碍这一核心症状的遗传度和环境影响特点，探讨ASD的遗传度，对中国汉族ASD的临床特点及遗传关系进行初步的研究；并比较ASD双生子社交障碍在性别和卵性的差异，并且探讨ASD双生子相关危险因素，，为进一步研究ASD病因筛选出同质性更好的人群。三、研究对象、内容、方法：选取1999年至2012年于中山大学附属第三医院儿童发育行为中心就诊的双胞胎儿童，其中至少一人符合ASD诊断。共收集1998年至2008年出生的双胞胎34对，通过召回现场观察、电话、信件、邮件回访等方式收集基本情况，完成社交反应量表（SRS）等，运用双胞胎统计模型研究其遗传特点，特别是作为核心障碍的社交障碍，在遗传与环境的相互关系及其在性别上的差异。分析SRS量表在ASD双胞胎的差异，探讨相关环境因素。四、结果：通过对34对孤独症谱系障碍双生子研究结果显示ASD同卵双胞胎（MZ）的同病率为78.6%（95%CI:49.2%-95.3%），异卵双胞胎（DZ）同病率为15%(95%CI:0.032-37.9%)；通过最优模型显示对于ASD社交障碍的遗传度为53.7%(95%CI:35.1%-72.3%),而非共享环境遗传度为46.3%(95%CI:27.7%-64.9%)未发现共享环境因素。社交障碍遗传特点在性别上差异具有统计学意义。正常儿童与ASD儿童的SRS量表分数比较、男女性别比较和卵性比较比，均存在统计学差异。ASD患儿在性别和卵性的分数比较上未发现统计学差异。五、结论： ASD具有很高的遗传效应，但非共享环境效应同样有重要作用，未发现有共享环境效应。社交障碍遗传特点存在性别差别。
[Abstract]:I . Background of the study :

Autism Spectrum Disorder ( ASD ) is a group of nervous system development diseases with significant heterogeneity , the cause is complicated , most of the studies have found that genetic factors are the main causes and the possibility of multigene inheritance is large .
Social barriers , as the core symptom of ASD , are considered to have the highest degree of inheritance among the three main symptoms . The prevalence of autism is significantly more than that of women , and also suggests that there may be differences in genetic disease due to gender .

II . Research purposes :

In this study , 34 pairs of twins were studied , in which at least one of the twins was diagnosed as ASD , and the genetic degree and the environmental impact characteristics of the core symptoms of ASD were studied by comparing the differences between the social barriers of ASD and the environmental factors . The genetic degree of ASD was studied .
To compare the differences between the sex and the egg sex of the ASD in ASD , and to explore the risk factors of ASD in ASD , and to screen out better people for the further study of ASD .

III . Research objects , contents and methods :

The twins were selected from 1999 to 2012 at the Third Affiliated Hospital of Sun Yat - sen University . At least one of them complied with ASD diagnosis . A total of 34 pairs of twins born between 1998 and 2008 were collected , the social response scale ( SRS ) was collected , and their genetic characteristics were studied by recall on - site observation , telephone , letter , mail return , etc .

IV . Result :

The results of the study showed that the co - morbidity rate was 78.6 % ( 95 % CI : 49.2 % - 95.3 % ) and the isozygotic twins ( DZ ) was 15 % ( 95 % CI : 0.032 - 37.9 % ) .
The genetic degree of social disorder was 53.7 % ( 95 % CI : 35 . 1 % - 72.3 % ) , while that of non - shared environment was 46.3 % ( 95 % CI : 27 . 7 % - 64.9 % ) .

V . Conclusion :

ASD has a high genetic effect , but the non - shared environmental effect also plays an important role . There is no shared environmental effect . There is a gender difference in the genetic characteristics of social barriers .

【学位授予单位】：中山大学
【学位级别】：硕士
【学位授予年份】：2012
【分类号】：R749.94

【参考文献】