Familial loading in specific language impairment: patterns of differences across proband characteristics, gender and relative type
Familial loading in specific language impairment: patterns of differences across proband characteristics, gender and relative type
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DOI：
10.1111/j.1601-183x.2006.00250.x
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发表时间：
2007-04-01
影响因子：
2.5
通讯作者：
Pickles, A.
中科院分区：
文献类型：
--
作者：
Conti-Ramsden, G.;Falcaro, M.;Pickles, A.
现在毫无疑问，环境因素和基因都可能对特定语言障碍(SLI)的病因学做出重要贡献。用来理解这些影响的最常见的模型是多因素模型。在目前的研究中，我们基于这个模型检验了两个预期：先证者语言得分的严重程度与亲属SLI的比率和严重程度之间将存在系统的关系，以及如果亲属是受影响较少的性别(女性)的先证者的亲属，那么他们将受到更强烈的影响，因为后者需要更高的遗传易感性才能变得同样受损。93名先证者及其300名一级亲属参与了这项研究。结果表明，14岁先证者的严重程度与亲属SLI发生率的增加有关。这种关系对于儿童兄弟姐妹来说很牢固，在一系列语言和识字衡量标准中，SLI的发生率和严重程度都很重要。相比之下，女性先证者的亲属而不是男性先证者的SLI水平更高，这是完全错误的。
There is now little doubt that both environmental factors and genes are likely to make important contributions to the aetiology of specific language impairment (SLI). The most commonly proposed model for understanding these influences is the multifactorial model. In the present study we examine two expectations based on this model: that there will be a systematic relationship between the severity of proband language scores and the rate and severity of SLI in relatives and that relatives will be more strongly affected if they are relatives of a proband of the more rarely affected gender (female) because the latter require a higher genetic liability to become equally impaired. Ninety-three probands and their 300 first-degree relatives participated in this study. Results showed a relationship between proband severity at age 14 and an increased rate of SLI in relatives. This relationship was strong for child siblings and was significant with respect to both rate of SLI and severity over a range of language and literacy measures. In contrast, higher levels of SLI among relatives of female rather than male probands was entirely disproved.