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儿童语法特异性语言障碍:常染色体显性遗传?

A grammatical specific language impairment in children: an autosomal dominant inheritance?

作者信息

van der Lely H K, Stollwerck L

机构信息

Department of Psychology, Birkbeck College, University of London, United Kingdom.

出版信息

Brain Lang. 1996 Mar;52(3):484-504. doi: 10.1006/brln.1996.0026.

Abstract

The aim of this study is to provide further characterization of a subgroup of so-called "Grammatical specific language-impaired (SLI)" children. The Grammatical SLI children have a persistent and disproportionate impairment in grammatical comprehension and expression of language. Previous research has indicated that their language impairment may be characterized by a domain-specific and modular language deficit. This study provides an initial investigation as to whether there is a genetic basis underlying their disorder as has been found for other forms of SLI and for SLI in general. The incidence of familial aggregation of language impairment was investigated in 12 Grammatical SLI children (aged 9:3 to 12:10). A familial language impairment (LI) history was classified as positive if one or more of the probands' relatives had a history of a speech/language or reading/writing problem which required speech therapy or any other form of remedial help. Case history information provided an initial indication that the Grammatical SLI children had a significantly higher incidence of a positive familial LI history than could be expected by chance. A questionnaire provided evidence of a positive LI history in the first-degree relatives of the SLI probands and 49 normally developing control probands. The SLI probands had a clearly and significantly higher incidence of a positive familial LI history than the control probands (77.8 vs. 28.5%, respectively). The results are consistent with a genetic basis underlying Grammatical SLI. The pattern of impairment in the SLI probands' relatives is consistent with an autosomal dominant genetic inheritance. In contrast to the control probands, the SLI probands' impaired relatives did not show a male gender bias. Thus, the gene does not appear to be sex-linked. The data indicate that further research is warranted to investigate the nature of the LI in the relatives of the Grammatical SLI probands and the genetic characteristics of this subgroup. The implications for the biological, domain-specific, and modular bases to language are discussed.

摘要

本研究的目的是进一步刻画一组所谓“语法特定性语言障碍(SLI)”儿童的特征。语法性SLI儿童在语言的语法理解和表达方面存在持续且不成比例的障碍。先前的研究表明,他们的语言障碍可能具有领域特定性和模块化语言缺陷的特征。本研究初步调查了他们的障碍是否像其他形式的SLI以及一般SLI那样存在遗传基础。对12名语法性SLI儿童(年龄在9岁3个月至12岁10个月之间)语言障碍家族聚集的发生率进行了调查。如果先证者的一个或多个亲属有言语/语言或阅读/写作问题的病史,且需要言语治疗或任何其他形式的补救帮助,则家族性语言障碍(LI)病史被分类为阳性。病历信息初步表明,语法性SLI儿童的阳性家族性LI病史发生率显著高于偶然预期。一份问卷提供了证据,表明SLI先证者和49名正常发育的对照先证者的一级亲属中有阳性LI病史。SLI先证者的阳性家族性LI病史发生率明显且显著高于对照先证者(分别为77.8%和28.5%)。结果与语法性SLI存在遗传基础一致。SLI先证者亲属的障碍模式与常染色体显性遗传一致。与对照先证者不同,SLI先证者受损的亲属没有表现出男性性别偏向。因此,该基因似乎不是性连锁的。数据表明,有必要进一步研究语法性SLI先证者亲属中LI的性质以及该亚组的遗传特征。讨论了对语言的生物学、领域特定性和模块化基础的影响。

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