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Neuroimaging genetics studies of specific reading disability and developmental language disorder: A review
Language and Linguistics Compass Pub Date : 2019-09-01 , DOI: 10.1111/lnc3.12349
Nicole Landi 1, 2 , Meaghan V. Perdue 1, 2
Affiliation  

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.

中文翻译:

特定阅读障碍和发育性语言障碍的神经影像遗传学研究:综述

口头和书面语言的发育障碍本质上是异质性的,在各种语言,认知和感觉运动领域都观察到了障碍。这些疾病还与非典型神经结构和功能的特征性模式有关,这种特征性模式通常在正式入学之前就已经在发育早期就可以观察到。遗传力的既定模式指向遗传贡献,而分子遗传学方法已经确定了在这些疾病中起作用的基因。尽管如此,在复杂的发育障碍中,鉴定出的基因仅占表型变异的一小部分,被描述为“遗传力缺失”的问题。在神经水平上对中间表型的表征可能会填补我们对复杂疾病遗传性模式的理解的空白,神经影像遗传学的新兴领域为实现这一目标提供了一种有前途的方法。神经影像遗传学方法在与语言和阅读相关的研究中正在普及,因为它非常适合将行为,遗传学和神经生物学纳入复杂的发育障碍的相关病因模型中。在这里,我们回顾了应用神经影像遗传学方法研究特定阅读障碍(SRD)和发育性语言障碍(DLD)的研究,其中许多将具有已知神经发育功能的基因与大脑的功能和结构异常联系在一起。神经影像遗传学方法在与语言和阅读相关的研究中正在普及,因为它非常适合将行为,遗传学和神经生物学纳入复杂的发育障碍的相关病因模型中。在这里,我们回顾了应用神经影像遗传学方法研究特定阅读障碍(SRD)和发育性语言障碍(DLD)的研究,其中许多将具有已知神经发育功能的基因与大脑的功能和结构异常联系在一起。神经影像遗传学方法在与语言和阅读相关的研究中正在普及,因为它非常适合将行为,遗传学和神经生物学纳入复杂的发育障碍的相关病因模型中。在这里,我们回顾了应用神经影像遗传学方法研究特定阅读障碍(SRD)和发育性语言障碍(DLD)的研究,其中许多将具有已知神经发育功能的基因与大脑的功能和结构异常联系在一起。
更新日期:2019-09-01
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