The importance of deep speech phenotyping for neurodevelopmental and genetic disorders: a conceptual review.
The importance of deep speech phenotyping for neurodevelopmental and genetic disorders: a conceptual review.
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DOI：
10.1186/s11689-022-09443-z
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发表时间：
2022-06-11
影响因子：
4.9
通讯作者：
中科院分区：
文献类型：
--
作者：
言语是语言交流最常见的方式，延迟、紊乱或缺乏言语产生是许多神经发育和遗传疾病的标志。然而，语言往往不是仔细的神经发育障碍的表型。在本文中，我们认为，如果我们要了解遗传变异如何影响与口语相关的大脑区域，那么这种深度表型（定义为特定于语音产生的表型，而不是与语言或认知能力相混淆）至关重要。言语不同于语言，尽管两者在行为上是相关的，并且共享神经基质。我们对发育性言语产生障碍进行了简要分类，特别强调运动性言语障碍儿童言语失用症（一种运动计划障碍）和儿童构音障碍（一系列运动执行障碍）。我们回顾了有关KE家族的发现历史，KE家族中的一种遗传性沟通障碍被确定为儿童言语失用症，并与FOXP2基因功能障碍有关。这个故事展示了言语产生的深层表型分析在言语和语言遗传学的这一开创性发现中是多么重要。与言语产生和FOXP2表达相关的神经基质之间存在相当大的重叠，这表明与言语功能障碍相关的其他基因也将在类似的脑区域中表达。然后，我们展示了如何在生物学上准确的计算模型的语音生产，结合详细的信息，在儿童发育障碍的语音生产，可以产生可检验的假设的性质，遗传学和神经学的语音障碍。虽然言语和语言是不同的，但特定类型的发育性言语障碍与神经发育障碍儿童的言语交流产生深远影响有关。因此，与儿科语言发育和障碍专家合作，详细的语言表型分析可以使我们发现新一代关于遗传疾病如何影响语言发育的发现。
Speech is the most common modality through which language is communicated, and delayed, disordered, or absent speech production is a hallmark of many neurodevelopmental and genetic disorders. Yet, speech is not often carefully phenotyped in neurodevelopmental disorders. In this paper, we argue that such deep phenotyping, defined as phenotyping that is specific to speech production and not conflated with language or cognitive ability, is vital if we are to understand how genetic variations affect the brain regions that are associated with spoken language. Speech is distinct from language, though the two are related behaviorally and share neural substrates. We present a brief taxonomy of developmental speech production disorders, with particular emphasis on the motor speech disorders childhood apraxia of speech (a disorder of motor planning) and childhood dysarthria (a set of disorders of motor execution). We review the history of discoveries concerning the KE family, in whom a hereditary form of communication impairment was identified as childhood apraxia of speech and linked to dysfunction in the FOXP2 gene. The story demonstrates how instrumental deep phenotyping of speech production was in this seminal discovery in the genetics of speech and language. There is considerable overlap between the neural substrates associated with speech production and with FOXP2 expression, suggesting that further genes associated with speech dysfunction will also be expressed in similar brain regions. We then show how a biologically accurate computational model of speech production, in combination with detailed information about speech production in children with developmental disorders, can generate testable hypotheses about the nature, genetics, and neurology of speech disorders. Though speech and language are distinct, specific types of developmental speech disorder are associated with far-reaching effects on verbal communication in children with neurodevelopmental disorders. Therefore, detailed speech phenotyping, in collaboration with experts on pediatric speech development and disorders, can lead us to a new generation of discoveries about how speech development is affected in genetic disorders.
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影响因子：
4.7
作者：
Barokova, Mihaela D.;La Valle, Chelsea;Tager-Flusberg, Helen
通讯作者：
Tager-Flusberg, Helen
影响因子：
2.6
作者：
Baylis, Adriane L.;Shriberg, Lawrence D.
通讯作者：
Shriberg, Lawrence D.
影响因子：
1.7
作者：
Chenausky, Karen, V;Brignell, Amanda;Green, Jordan R.
通讯作者：
Green, Jordan R.
影响因子：
--
作者：
Chenausky, Karen;Brignell, Amanda;Tager-Flusberg, Helen
通讯作者：
Tager-Flusberg, Helen
DOI：
10.1044/jshr.1203.462
发表时间：
1969-01-01
期刊：
JOURNAL OF SPEECH AND HEARING RESEARCH
影响因子：
--
作者：
DARLEY, FL;ARONSON, AE;BROWN, JR
通讯作者：
BROWN, JR