首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >Praxic and nonverbal cognitive deficits in a large family with a genetically transmitted speech and language disorder.
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Praxic and nonverbal cognitive deficits in a large family with a genetically transmitted speech and language disorder.

机译:患有遗传性语音和语言障碍的大家庭的实际和非言语认知功能障碍。

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摘要

A pronounced speech and language disorder affecting half of the 30 members of the four-generational KE family has been attributed by some researchers to a specific defect in the generation of morphosyntactic rules. The reported selectivity of the impairment has led to the view that the affected members suffer from a grammar-specific disorder. Our investigations of the same KE family indicate that the inherited disorder has a broad phenotype which transcends impaired generation of syntactical rules and includes a striking articulatory impairment as well as defects in intellectual, linguistic, and orofacial praxic functions generally. Although the evidence from this family thus provides no support for the existence of "grammar genes," their linguistic difficulties do constitute a prominent part of their phenotype. Investigations of the neural and genetic correlates of their disorder could therefore uncover important clues to some of the bases of the primary human faculties of speech and language.
机译:一些研究人员将影响四代KE家族30个成员中一半的明显的言语和语言障碍归因于形态句法规则生成方面的特定缺陷。所报道的对损伤的选择性导致了这样一种观点,即受影响的成员患有语法特异性疾病。我们对同一个KE家族的研究表明,遗传性疾病具有广泛的表型,可以超越句法规则生成的障碍,并且包括明显的发音障碍以及智力,语言和口腔面部功能的缺陷。尽管来自这个家族的证据因此不支持“语法基因”的存在,但是他们的语言困难确实构成了其表型的重要部分。因此,对其疾病的神经和遗传相关性的研究可能会发现重要的线索,这些线索是人类主要语言和语言系的某些基础的基础。

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