The genetic basis of persistence and recovery in stuttering
The genetic basis of persistence and recovery in stuttering
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DOI：
10.1044/jslhr.4003.567
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发表时间：
1997-06-01
影响因子：
2.6
通讯作者：
Yairi, E
中科院分区：
文献类型：
--
作者：
Ambrose, NG;Cox, NJ;Yairi, E
虽然过去的研究已经提供了遗传因素对口吃易感性传播的证据，但口吃的遗传因素与疾病的持续性和恢复之间的关系仍然不清楚。为了描述这种关系，我们调查了66名口吃儿童的直系亲属和大家庭，以确定持续性口吃和恢复性口吃病例的频率。系谱分析和分离分析被用来检查传播模式。研究了以下问题：1.性对口吃的康复有影响吗？在这里，我们试图检验女性比男性更容易恢复的假设，导致性别比例从接近疾病发作时的约2：1男性与女性的变化，到成年时的4或5：1。口吃的持续/恢复是否在家庭中传播？如果恢复/持续性似乎是传播的，（a）是恢复和持续性口吃独立的疾病？(b)恢复是一种遗传上较温和的持续性口吃吗？或（c）持续/恢复是否与口吃的主要易感性无关？结果表明，持续性与恢复口吃的性别比例急剧不同，在恢复女性比男性更频繁。研究发现，恢复或持久性确实是传递的，而且，恢复似乎不是一种一般较温和的口吃形式，这两种类型的口吃似乎也不是遗传上独立的疾病。数据是最一致的假设，即持续性和恢复口吃具有共同的遗传病因，而持续性是，部分，由于额外的遗传因素。分离分析支持这些结论，并提供了统计学证据为一个单一的主要基因座和多基因成分的持续和恢复口吃。
Although past research has provided evidence of a genetic component to the transmission of susceptibility to stuttering, the relationship between the genetic component to stuttering and persistence and recovery in the disorder has remained unclear. In an attempt to characterize this relationship, the immediate and extended families of 66 stuttering children were investigated to determine frequencies of cases of persistent and recovered stuttering. Pedigree analysis and segregation analysis were used to examine patterns of transmission. The following questions were investigated:1. Is there a sex effect in recovery From stuttering? Here, we sought to test the hypothesis that Females are more likely to recover than males, leading to the change in sex ratio from approximately 2:1 males to females close to onset of the disorder, to 4 or 5:1 in adulthood.2. Is persistence/recovery in stuttering transmitted in families? If recovery/persistence appears to be transmitted, (a) are recovered and persistent stuttering independent disorders?; (b) is recovery a genetically milder form of persistent stuttering?; or (c) is persistence/recovery transmitted independent of the primary susceptibility to stuttering?Results indicated sharply different sex ratios of persistent versus recovered stutterers in that recovery among females is more frequent than among males. It was found that recovery or persistence is indeed transmitted, and Further, that recovery does not appear to be a generically milder form of stuttering, nor do the two types of stuttering appear to be genetically independent disorders. Data are most consistent with the hypothesis that persistent and recovered stuttering possess a common genetic etiology, and that persistence is, in part, due to additional genetic factors. Segregation analyses supported these conclusions and provided statistical evidence For both a single major locus and polygenic component for persistent and recovered stuttering.