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Am J Speech Lang Pathol. 2007 May;16(2):169-78. doi: 10.1044/1058-0360(2007/021).
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本文引用的文献

1
Genetic and environmental influences on stuttering and tics in Japanese twin children.日本双胞胎儿童口吃和抽搐的遗传及环境影响
Twin Res Hum Genet. 2005 Feb;8(1):69-75. doi: 10.1375/1832427053435409.
2
Evidence for a major gene influence on persistent developmental stuttering.存在主要基因影响持续性发育性口吃的证据。
Hum Biol. 2004 Jun;76(3):401-12. doi: 10.1353/hub.2004.0050.
3
Results of a genome-wide linkage scan for stuttering.口吃的全基因组连锁扫描结果。
Am J Med Genet A. 2004 Jan 15;124A(2):133-5. doi: 10.1002/ajmg.a.20347.
4
Twins early development study (TEDS): a multivariate, longitudinal genetic investigation of language, cognition and behavior problems in childhood.双胞胎早期发展研究(TEDS):一项关于儿童语言、认知和行为问题的多变量纵向基因调查。
Twin Res. 2002 Oct;5(5):444-8. doi: 10.1375/136905202320906255.
5
Finding susceptibility genes for developmental disorders of speech: the long and winding road.
J Commun Disord. 2002 Jul-Aug;35(4):329-45. doi: 10.1016/s0021-9924(02)00088-6.
6
Analytic approaches to twin data using structural equation models.使用结构方程模型对双胞胎数据进行分析的方法。
Brief Bioinform. 2002 Jun;3(2):119-33. doi: 10.1093/bib/3.2.119.
7
A study of the genetic and environmental etiology of stuttering in a selected twin sample.一项对选定双胞胎样本中口吃的遗传和环境病因的研究。
Behav Genet. 2000 Sep;30(5):359-66. doi: 10.1023/a:1002765620208.
8
Infant zygosity can be assigned by parental report questionnaire data.婴儿的合子性可通过父母报告问卷数据来确定。
Twin Res. 2000 Sep;3(3):129-33. doi: 10.1375/136905200320565391.
9
Early childhood stuttering I: persistency and recovery rates.
J Speech Lang Hear Res. 1999 Oct;42(5):1097-112. doi: 10.1044/jslhr.4205.1097.
10
The genetic basis of persistence and recovery in stuttering.口吃持续与恢复的遗传基础。
J Speech Lang Hear Res. 1997 Jun;40(3):567-80. doi: 10.1044/jslhr.4003.567.

在一个未经挑选的年轻双胞胎纵向样本中,恢复性和持续性口吃病例的遗传病因。

Genetic etiology in cases of recovered and persistent stuttering in an unselected, longitudinal sample of young twins.

作者信息

Dworzynski Katharina, Remington Anna, Rijsdijk Frühling, Howell Peter, Plomin Robert

机构信息

Department of Psychology, King's College London, Gower Street, London, UK.

出版信息

Am J Speech Lang Pathol. 2007 May;16(2):169-78. doi: 10.1044/1058-0360(2007/021).

DOI:10.1044/1058-0360(2007/021)
PMID:17456895
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1885477/
Abstract

PURPOSE

The contribution of genetic factors in the persistence of and early recovery from stuttering was assessed.

METHOD

Data from the Twins Early Development Study were employed. Parental reports regarding stuttering were collected at ages 2, 3, 4, and 7 years, and were used to classify speakers into recovered and persistent groups. Of 12,892 children with at least 2 ratings, 950 children had recovered and 135 persisted in their stutter.

RESULTS

Logistic regressions showed that the rating at age 2 was not predictive of later stuttering, whereas ratings at ages 3 and 4 were. Concordance rates were consistently higher for monozygotic than for dizygotic twin pairs (with the exception of girls at age 3). At 3, 4, and 7 years, the liability to stuttering was highly heritable (h2 estimates of between .58 and .66). Heritability for the recovered and persistent groups was also high but did not differ from each other.

CONCLUSION

Stuttering appears to be a disorder that has high heritability and little shared environment effect in early childhood and for recovered and persistent groups of children, by age 7. The clinical implications of the findings are discussed.

摘要

目的

评估遗传因素在口吃持续存在及早期恢复过程中的作用。

方法

采用来自双胞胎早期发育研究的数据。收集了2岁、3岁、4岁和7岁时父母关于口吃情况的报告,并据此将儿童分为恢复组和持续组。在12,892名至少有两次评估的儿童中,950名儿童口吃已恢复,135名儿童口吃仍持续。

结果

逻辑回归分析显示,2岁时的评估结果不能预测后期口吃情况,而3岁和4岁时的评估结果具有预测性。同卵双胞胎的一致率始终高于异卵双胞胎(3岁女孩除外)。在3岁、4岁和7岁时,口吃倾向具有高度遗传性(遗传度估计值在0.58至0.66之间)。恢复组和持续组的遗传度也很高,但两组之间没有差异。

结论

口吃似乎是一种在幼儿期以及到7岁时的恢复组和持续组儿童中具有高遗传性且几乎没有共享环境影响的疾病。文中讨论了这些研究结果的临床意义。