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一项对选定双胞胎样本中口吃的遗传和环境病因的研究。

A study of the genetic and environmental etiology of stuttering in a selected twin sample.

作者信息

Felsenfeld S, Kirk K M, Zhu G, Statham D J, Neale M C, Martin N G

机构信息

Department of Speech-Language Pathology, Duquesne University, Pittsburgh, Pennsylvania 15260, USA.

出版信息

Behav Genet. 2000 Sep;30(5):359-66. doi: 10.1023/a:1002765620208.

Abstract

Stuttering is a developmental disorder of speech production that usually emerges in childhood. In this study, a large population-based twin sample from the Australian Twin Registry (1567 pairs and 634 singles aged 17-29 years) was screened to identify twin pairs in which one or both members reported themselves to be affected by stuttering. Telephone interview-based diagnoses were obtained for 457 of these individuals (self-reported affected cases, cotwins, and controls) to determine whether the self-report was correct. To correct for ascertainment bias we carried out a bivariate analysis of the final diagnosis in the selected sample with the screening item in the full sample, using the categorical raw data option of Mx 1.47c. After correcting for ascertainment bias, approximately 70% (95% confidence interval: 39-86%) of the variance in liability to stuttering was found to be attributable to additive genetic effects, with the remainder due to nonshared environmental effects.

摘要

口吃是一种通常在儿童期出现的言语产生发育障碍。在本研究中,对来自澳大利亚双胞胎登记处的大量基于人群的双胞胎样本(1567对双胞胎和634名单胎,年龄在17至29岁之间)进行了筛查,以识别其中一方或双方报告自己受口吃影响的双胞胎对。对这些个体中的457人(自我报告受影响的病例、双胞胎和对照)进行了基于电话访谈的诊断,以确定自我报告是否正确。为了校正确定偏倚,我们使用Mx 1.47c的分类原始数据选项,对选定样本中的最终诊断与全样本中的筛查项目进行了双变量分析。校正确定偏倚后,发现口吃易感性的约70%(95%置信区间:39 - 86%)的变异可归因于加性遗传效应,其余归因于非共享环境效应。

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