Ludlow C L, Dooman A G
Voice and Speech Section, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland.
Otolaryngol Clin North Am. 1992 Oct;25(5):979-94.
At the outset of this article, we posed the question of whether or not the current evidence from genetic studies of DLD and stuttering indicate that it would be fruitful to conduct studies aimed at determining the gene location for each of these disorders. As we pointed out, because these are behavioral development disorders, phenotypic variations and changes in characteristics through the life span pose problems when attempting to determine who is and is not affected. Further, because these disorders can be either idiopathic or secondary to a variety of causes, any genetic study must rule out or take account of cases secondary to other factors. Few studies conducted thus far have taken these problems into account, and the results must be considered tentative. Given these reservations, the results certainly point to a genetic component in both disorders, although the data collected thus far on DLD suggest a mendelian form of transmission. If further more intensive studies continue to support this model for DLD, linkage studies on this disorder are likely to be productive.
在本文开篇，我们提出了一个问题：当前关于发育性语言障碍（DLD）和口吃的基因研究证据是否表明，开展旨在确定这两种疾病各自基因定位的研究将会富有成效。正如我们所指出的，由于这些是行为发育障碍，在试图确定谁受影响、谁不受影响时，表型变异以及特征在整个生命周期中的变化会带来问题。此外，由于这些疾病可能是特发性的，也可能继发于多种原因，任何基因研究都必须排除或考虑继发于其他因素的病例。迄今为止进行的研究很少考虑到这些问题，其结果必须被视为初步的。鉴于这些保留意见，结果肯定表明这两种疾病都存在遗传因素，尽管目前收集到的关于DLD的数据表明其呈孟德尔式遗传模式。如果进一步更深入的研究继续支持DLD的这种模式，那么针对该疾病的连锁研究可能会有所收获。
