Genetic advances in the study of speech and language disorders.
Genetic advances in the study of speech and language disorders.
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DOI：
10.1016/j.neuron.2010.10.001
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发表时间：
2010-10-21
期刊：
影响因子：
16.2
通讯作者：
Monaco, A. P.
中科院分区：
文献类型：
--
作者：
Newbury, D. F.;Monaco, A. P.
发育性言语和语言障碍涵盖了广泛的儿童条件，具有重叠但异质的表型和潜在病因。这种特征性异质性阻碍了准确诊断，使治疗策略复杂化，并导致难以识别因果因素。尽管如此，在过去的十年中，已经确定了遗传变异可能使某些个体容易出现不同方面的言语和语言困难。本文综述了口吃、言语声音障碍（SSD）、特殊语言障碍（SLI）和发展性言语运动障碍（DVD）的遗传学研究进展。我们讨论了如何识别和研究特定的基因和途径，包括FOXP2，CNTNAP 2，ATP 2C2，CMIP和溶酶体酶，可能会促进我们对言语和语言障碍病因的理解，使我们能够更好地了解不同形式的障碍之间的关系。
Developmental speech and language disorders cover a wide range of childhood conditions with overlapping but heterogeneous phenotypes and underlying etiologies. This characteristic heterogeneity hinders accurate diagnosis, can complicate treatment strategies, and causes difficulties in the identification of causal factors. Nonetheless, over the last decade, genetic variants have been identified that may predispose certain individuals to different aspects of speech and language difficulties. In this review, we summarize advances in the genetic investigation of stuttering, speech-sound disorder (SSD), specific language impairment (SLI), and developmental verbal dyspraxia (DVD). We discuss how the identification and study of specific genes and pathways, including FOXP2, CNTNAP2, ATP2C2, CMIP, and lysosomal enzymes, may advance our understanding of the etiology of speech and language disorders and enable us to better understand the relationships between the different forms of impairment across the spectrum.
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