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特定语言障碍和非特定语言障碍在 4 岁和 6 岁时的遗传度,跨越言语、语言和非言语认知的表型。

Heritability of Specific Language Impairment and Nonspecific Language Impairment at Ages 4 and 6 Years Across Phenotypes of Speech, Language, and Nonverbal Cognition.

机构信息

Child Language Doctoral Program, University of Kansas, Lawrence.

Telethon Kids Institute, The University of Western Australia, Nedlands, Australia.

出版信息

J Speech Lang Hear Res. 2020 Mar 23;63(3):793-813. doi: 10.1044/2019_JSLHR-19-00012. Epub 2020 Mar 12.

Abstract

Purpose Early language and speech acquisition can be delayed in twin children, a twinning effect that diminishes between 4 and 6 years of age in a population-based sample. The purposes of this study were to examine how twinning effects influence the identification of children with language impairments at 4 and 6 years of age, comparing children with specific language impairment (SLI) and nonspecific language impairment (NLI); the likelihood that affectedness will be shared within monozygotic versus dizygotic twin pairs; and estimated levels of heritability for SLI and NLI. Twinning effects are predicted to result in elevated rates of language impairments in twins. Method The population-based twin sample included 1,354 children from 677 twin pairs, 214 monozygotic and 463 dizygotic, enrolled in a longitudinal study. Nine phenotypes from the same comprehensive direct behavioral assessment protocol were investigated at 4 and 6 years of age. Twinning effects were estimated for each phenotype at each age using structural equation models estimated via diagonally weighted least squares. Heritabilities were calculated for SLI and NLI. Results As predicted, the twinning effect increased the percentage of affected children in both groups across multiple language phenotypes, an effect that diminished with age yet was still not aligned to singleton age peers. Substantial heritability estimates replicated across language phenotypes and increased with age, even with the most lenient definition of affectedness, at -1 . Patterns of outcomes differed between SLI and NLI groups. Conclusions Nonverbal IQ is not on the same causal pathway as language impairments. Twinning effects on language acquisition affect classification of 4- and 6-year-old children as SLI and NLI, and heritability is most consistent in the SLI group. Clinical practice requires monitoring language acquisition of twins to avoid misdiagnosis when young or a missed diagnosis of language impairments at school entry.

摘要

目的

在基于人群的样本中,双胞胎儿童的早期语言和言语习得可能会延迟,这种双胞胎效应在 4 至 6 岁之间会减弱。本研究的目的是探讨双胞胎效应对 4 岁和 6 岁儿童语言障碍识别的影响,比较特定语言障碍(SLI)和非特定语言障碍(NLI)儿童;受影响程度在同卵双胞胎和异卵双胞胎双胞胎对之间共享的可能性;以及 SLI 和 NLI 的遗传力估计水平。双胞胎效应预计会导致双胞胎中语言障碍的发生率升高。方法:基于人群的双胞胎样本包括来自 677 对双胞胎的 1354 名儿童,其中 214 对为同卵双胞胎,463 对为异卵双胞胎,他们参加了一项纵向研究。在 4 岁和 6 岁时,使用相同的全面直接行为评估方案,调查了 9 种表型。使用对角线加权最小二乘法估计的结构方程模型,在每个年龄对每种表型进行了双胞胎效应估计。计算了 SLI 和 NLI 的遗传力。结果:正如预期的那样,双胞胎效应增加了两个组中多个语言表型的受影响儿童的百分比,尽管随着年龄的增长,这种效应会减弱,但仍与单胎年龄的同龄人不一致。在语言表型和年龄上都存在很大的遗传力估计值,即使采用最宽松的受影响定义,也高达-1。结果在 SLI 和 NLI 组之间存在差异。结论:非言语智商与语言障碍不在同一因果途径上。语言习得的双胞胎效应影响了 4 岁和 6 岁儿童的 SLI 和 NLI 分类,并且遗传力在 SLI 组中最一致。临床实践需要监测双胞胎的语言习得,以避免年轻时误诊或错过入学时的语言障碍诊断。

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