DeThorne Laura S, Petrill Stephen A, Hayiou-Thomas Marianna E, Plomin Robert
Pennsylvania State University, University Park, USA.
J Speech Lang Hear Res. 2005 Aug;48(4):792-804. doi: 10.1044/1092-4388(2005/055).
This study of 4,274 pairs of 4-year-old twins from the Twins Early Development Study explored the magnitude of genetic and environmental effects on low expressive vocabulary skill, both as a function of general cognitive ability and as a function of the severity of expressive vocabulary impairment. Assessments were conducted through parent report measures. Two types of vocabulary deficit were identified: low vocabulary paired with typical general cognition (i.e., specific expressive vocabulary impairment) and low vocabulary paired with low general cognition (i.e., nonspecific expressive vocabulary impairment). The magnitude of genetic and environmental effects on low expressive vocabulary skill did not differ for these 2 types of expressive vocabulary deficit. By systematically varying the cutoffs used to define vocabulary and general cognitive delay, potential changes in the magnitude of genetic and environmental effects were examined. Results suggested that the severity of vocabulary deficit rather than level of cognitive functioning was a more meaningful etiological distinction: The heritability of low expressive vocabulary was higher and the influence of shared environment lower, as increasingly severe vocabulary deficits were identified. Implications for molecular genetics and the construct of specific language deficits are discussed.
这项针对来自双胞胎早期发育研究的4274对4岁双胞胎的研究,探讨了遗传和环境因素对低表达性词汇技能的影响程度,该影响程度既是一般认知能力的函数,也是表达性词汇损伤严重程度的函数。评估通过家长报告测量进行。识别出两种类型的词汇缺陷:词汇量低且一般认知正常(即特定表达性词汇损伤),以及词汇量低且一般认知水平低(即非特定表达性词汇损伤)。对于这两种类型的表达性词汇缺陷,遗传和环境因素对低表达性词汇技能的影响程度并无差异。通过系统改变用于定义词汇和一般认知延迟的临界值,研究了遗传和环境因素影响程度的潜在变化。结果表明,词汇缺陷的严重程度而非认知功能水平是更有意义的病因学区分:随着识别出的词汇缺陷越来越严重,低表达性词汇的遗传度更高,共享环境的影响更低。讨论了对分子遗传学的启示以及特定语言缺陷的结构。