Landi Nicole, Perdue Meaghan
Department of Psychological Sciences, University of Connecticut, Storrs, Connecticut, United States; Haskins Laboratories, United States.
Lang Linguist Compass. 2019 Sep;13(9). doi: 10.1111/lnc3.12349. Epub 2019 Sep 5.
Developmental disorders of spoken and written language are heterogeneous in nature with impairments observed across various linguistic, cognitive, and sensorimotor domains. These disorders are also associated with characteristic patterns of atypical neural structure and function that are observable early in development, often before formal schooling begins. Established patterns of heritability point toward genetic contributions, and molecular genetics approaches have identified genes that play a role in these disorders. Still, identified genes account for only a limited portion of phenotypic variance in complex developmental disorders, described as the problem of "missing heritability." The characterization of intermediate phenotypes at the neural level may fill gaps in our understanding of heritability patterns in complex disorders, and the emerging field of neuroimaging genetics offers a promising approach to accomplish this goal. The neuroimaging genetics approach is gaining prevalence in language- and reading-related research as it is well-suited to incorporate behavior, genetics, and neurobiology into coherent etiological models of complex developmental disorders. Here, we review research applying the neuroimaging genetics approach to the study of specific reading disability (SRD) and developmental language disorder (DLD), much of which links genes with known neurodevelopmental function to functional and structural abnormalities in the brain.
口语和书面语言的发育障碍本质上具有异质性,在各种语言、认知和感觉运动领域均观察到损害。这些障碍还与非典型神经结构和功能的特征模式相关,这些模式在发育早期,通常在正式上学之前就可以观察到。已确立的遗传模式表明存在遗传因素,分子遗传学方法已经确定了在这些障碍中起作用的基因。然而,在复杂的发育障碍中,已确定的基因仅占表型变异的有限部分,这就是所谓的“遗传力缺失”问题。在神经水平上对中间表型的表征可能会填补我们对复杂障碍遗传模式理解的空白,而新兴的神经影像遗传学领域为实现这一目标提供了一种很有前景的方法。神经影像遗传学方法在与语言和阅读相关的研究中越来越普遍,因为它非常适合将行为、遗传学和神经生物学纳入复杂发育障碍的连贯病因模型。在这里,我们回顾了将神经影像遗传学方法应用于特定阅读障碍(SRD)和发育性语言障碍(DLD)研究的相关研究,其中大部分研究将具有已知神经发育功能的基因与大脑中的功能和结构异常联系起来。