A Grammatical Specific Language Impairment in Children: An Autosomal Dominant Inheritance?
A Grammatical Specific Language Impairment in Children: An Autosomal Dominant Inheritance?
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儿童语法特异性语言障碍：常染色体显性遗传？
DOI：
10.1006/brln.1996.0026
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发表时间：
1996
影响因子：
2.5
通讯作者：
L. Stollwerck
中科院分区：
文献类型：
--
作者：
H. V. D. Lely;L. Stollwerck
本研究的目的是进一步描述所谓的“语法特定语言障碍（SLI）”儿童亚群的特征。语法 SLI 儿童在语法理解和语言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表现为特定领域和模块化的语言缺陷。这项研究提供了初步调查，以确定他们的疾病是否存在遗传基础，正如其他形式的 SLI 和一般 SLI 所发现的那样。对 12 名语法 SLI 儿童（年龄 9:3 至 12:10）进行了语言障碍家族聚集性的调查。如果先证者的一名或多名亲属有言语/语言或阅读/写作问题史，需要言语治疗或任何其他形式的补救帮助，则家族语言障碍（LI）史被归类为阳性。病例史信息初步表明，语法 SLI 儿童的阳性家族 LI 史发生率明显高于偶然预期。一份调查问卷提供了 SLI 先证者的一级亲属和 49 名正常发育的对照先证者的阳性 LI 病史的证据。 SLI 先证者的阳性家族 LI 史的发生率明显高于对照先证者（分别为 77.8% 和 28.5%）。结果与语法 SLI 的遗传基础一致。 SLI 先证者亲属的损伤模式与常染色体显性遗传一致。与对照先证者相比，SLI先证者的受损亲属没有表现出男性性别偏见。因此，该基因似乎与性别无关。数据表明，需要进一步研究来调查语法 SLI 先证者亲属中 LI 的性质以及该亚群的遗传特征。讨论了语言的生物学、特定领域和模块化基础的含义。
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.
表达性语言发育迟缓的家族史。
DOI：
10.1044/jshr.3405.1150
发表时间：
1991
期刊：
Journal of speech and hearing research
影响因子：
--
作者：
Whitehurst,GJ;Arnold,DS;Smith,M;Fischel,JE;Lonigan,CJ;Valdez-Menchaca,MC
通讯作者：
Valdez-Menchaca,MC
有特定语言障碍的儿童的语法形态和言语感知。
DOI：
10.1044/jshr.3505.1076
发表时间：
1992
期刊：
Journal of speech and hearing research
影响因子：
--
作者：
Leonard,LB;McGregor,KK;Allen,GD
通讯作者：
Allen,GD