本文選題：孤獨癥譜系障礙 + 雙生子��； 參考：《中山大學(xué)》2012年碩士論文

【摘要】：一、研究背景： 孤獨癥譜系障礙（ASD）是一組具有顯著異質(zhì)性的神經(jīng)系統(tǒng)發(fā)育性疾病，病因復(fù)雜，目前多數(shù)研究認為遺傳因素是主要的病因，且多基因遺傳可能性大。ASD核心癥狀包括交流障礙、社會交往障礙和狹隘興趣、重復(fù)刻板行為；社交障礙作為ASD的核心癥狀，被認為是在三大主癥中具有最高遺傳度的因素。孤獨癥患病率男性明顯多于女性，亦提示遺傳病因方面在性別可能存在差異。 二、研究目的： 本課題研究34對雙生子，其中每對雙生子中至少有一人被診斷為ASD，通過比較ASD雙生子的社交障礙的差異以及患兒所處環(huán)境因素特點，研究ASD社交障礙這一核心癥狀的遺傳度和環(huán)境影響特點，探討ASD的遺傳度，對中國漢族ASD的臨床特點及遺傳關(guān)系進行初步的研究；并比較ASD雙生子社交障礙在性別和卵性的差異，并且探討ASD雙生子相關(guān)危險因素，，為進一步研究ASD病因篩選出同質(zhì)性更好的人群。 三、研究對象、內(nèi)容、方法： 選取1999年至2012年于中山大學(xué)附屬第三醫(yī)院兒童發(fā)育行為中心就診的雙胞胎兒童，其中至少一人符合ASD診斷。共收集1998年至2008年出生的雙胞胎34對，通過召回現(xiàn)場觀察、電話、信件、郵件回訪等方式收集基本情況，完成社交反應(yīng)量表（SRS）等，運用雙胞胎統(tǒng)計模型研究其遺傳特點，特別是作為核心障礙的社交障礙，在遺傳與環(huán)境的相互關(guān)系及其在性別上的差異。分析SRS量表在ASD雙胞胎的差異，探討相關(guān)環(huán)境因素。 四、結(jié)果： 通過對34對孤獨癥譜系障礙雙生子研究結(jié)果顯示ASD同卵雙胞胎（MZ）的同病率為78.6%（95%CI:49.2%-95.3%），異卵雙胞胎（DZ）同病率為15%(95%CI:0.032-37.9%)；通過最優(yōu)模型顯示對于ASD社交障礙的遺傳度為53.7%(95%CI:35.1%-72.3%),而非共享環(huán)境遺傳度為46.3%(95%CI:27.7%-64.9%)未發(fā)現(xiàn)共享環(huán)境因素。社交障礙遺傳特點在性別上差異具有統(tǒng)計學(xué)意義。正常兒童與ASD兒童的SRS量表分?jǐn)?shù)比較、男女性別比較和卵性比較比，均存在統(tǒng)計學(xué)差異。ASD患兒在性別和卵性的分?jǐn)?shù)比較上未發(fā)現(xiàn)統(tǒng)計學(xué)差異。 五、結(jié)論： ASD具有很高的遺傳效應(yīng)，但非共享環(huán)境效應(yīng)同樣有重要作用，未發(fā)現(xiàn)有共享環(huán)境效應(yīng)。社交障礙遺傳特點存在性別差別。
[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 .

【學(xué)位授予單位】：中山大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2012
【分類號】：R749.94

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