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具有发展轨迹的语音特征的遗传力估计。

Heritability estimation for speech-sound traits with developmental trajectories.

机构信息

Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44106, USA.

出版信息

Behav Genet. 2011 Mar;41(2):184-91. doi: 10.1007/s10519-010-9378-5. Epub 2010 Jul 10.

Abstract

Numerous studies have examined genetic influences on developmental problems such as speech sound disorders (SSD), language impairment (LI), and reading disability. Disorders such as SSD are often analyzed using their component endophenotypes. Most studies, however, have involved comparisons of twin pairs or siblings of similar age, or have adjusted for age ignoring effects that are peculiar to age-related trajectories for phenotypic change. Such developmental changes in these skills have limited the usefulness of data from parents or siblings who differ substantially in age from the probands. Employing parent-offspring correlation in heritability estimation permits a more precise estimate of the additive component of genetic variance, but different generations have to be measured for the same trait. We report on a smoothing procedure which fits a series of lines that approximate a curve matching the developmental trajectory. This procedure adjusts for changes in measures with age, so that the adjusted values are on a similar scale for children, adolescents, and adults. We apply this method to four measures of phonological memory and articulation in order to estimate their heritability. Repetition of multisyllabic real words (MSW) showed the best heritability estimate of 45% in this sample. We conclude that differences in measurement scales across the age span can be reconciled through non-linear modeling of the developmental process.

摘要

许多研究都考察了遗传因素对发育问题的影响,如语音障碍(SSD)、语言障碍(LI)和阅读障碍。SSD 等障碍通常通过其组成的内表型进行分析。然而,大多数研究都涉及对同卵双胞胎或年龄相似的兄弟姐妹进行比较,或者忽略了与表型变化的年龄相关轨迹相关的年龄效应。这些技能的发育变化限制了来自与患者年龄差异较大的父母或兄弟姐妹的数据的有用性。在遗传率估计中使用父母-子女相关性可以更准确地估计遗传方差的加性成分,但必须为同一特征测量不同的世代。我们报告了一种平滑程序,该程序拟合一系列线,这些线近似于匹配发育轨迹的曲线。该程序会根据年龄的变化调整测量值,以便调整后的数值在儿童、青少年和成年人之间具有相似的尺度。我们将该方法应用于四种语音记忆和发音的测量值,以估计它们的遗传性。在这个样本中,重复多音节真实单词(MSW)的遗传性估计值最高,为 45%。我们得出的结论是,通过对发育过程进行非线性建模,可以协调跨越年龄范围的测量尺度差异。

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