Genetic and environmental effects on stuttering: A twin study from Finland

Rautakoski, Pirkko; Hannus, Therese; Simberg, Susanna; Sandnabba, N. Kenneth; Santtila, Pekka

doi:10.1016/j.jfludis.2011.12.003

Cited by 40 publications

(28 citation statements)

References 35 publications

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“…Twin and adoption studies represent two classical approaches to estimating the heritability of a trait in humans. A total of nine twin studies of stuttering have been published in the past 40 years, involving subjects from widely different linguistic backgrounds (Godai et al 1976;Howie 1981;Andrews et al 1991;Felsenfeld et al 2000;Ooki 2005;Dworzynski et al 2007;van Beijsterveldt et al 2010;Fagnani et al 2011;Rautakoski et al 2012).…”

Section: Heritability and Modes Of Inheritancementioning

confidence: 99%

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Genetic contributions to stuttering: the current evidence

Frigerio-Domingues

Drayna

2017

Molec Gen & Gen Med

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Section: Heritability and Modes Of Inheritancementioning

confidence: 99%

“…; Rautakoski et al. ). These studies have varied greatly in size, ranging from <100 subjects to over 20,000 subjects.…”

Section: Introductionmentioning

confidence: 97%

Genetic contributions to stuttering: the current evidence

Frigerio-Domingues

Drayna

2017

Molec Gen & Gen Med

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“…Historically, there is a variety of etiological explanations for stuttering 12 and although its origin is not yet well understood 13 , there is a consensus that genetic factors act in approximately half the cases of persistent developmental stuttering 14 . In cases where there is familial recurrence, or in which two or more individuals of the same family are affected by…”

Section: Source Of Financial Support: Capesmentioning

confidence: 99%

“…Molecular genetic research has focused on investigating the susceptibility of genes that may contribute to the transmission of stuttering 12 .…”

mentioning

confidence: 99%

Gagueira desenvolvimental persistente familial: disfluências e prevalência

et al. 2015

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Resumo: OBJETIVO: caracterizar e comparar a frequência das disfluências da fala de adultos com gagueira desenvolvimental persistente familial do sexo masculino e feminino, a severidade do distúrbio e determinar a prevalência familial e a razão entre gêneros da gagueira nos familiares dos probandos. MÉTODOS: participaram 30 adultos com gagueira (18 a 53 anos), divididos em dois grupos, sendo 20 do sexo masculino e 10 do sexo feminino. Os procedimentos realizados foram: história clínica e familial, avaliação da fluência e Instrumento de Severidade da Gagueira. RESULTADOS: as porcentagens de disfluências típicas da gagueira (p=0,352), de outras disfluências (p=0,947) e do total das disfluências (p=0,522) foram semelhantes entre os grupos masculino e feminino. A média de disfluências típicas da gagueira foi 5,23% e de outras disfluências 5,50%. O subtipo leve foi manifestado pela maioria dos participantes (83,3%). Os familiares do gênero masculino apresentaram maior risco de apresentar gagueira (p<0,001). Do total de 1002 familiares, 85 apresentaram gagueira. No total de familiares afetados (n=85), 53 eram do sexo masculino e 32 do feminino. CONCLUSÃO: não houve diferenças entre os grupos masculino e feminino nas medidas analisadas. Quanto à frequência das disfluências, aproximadamente metade do total das disfluências foi caracterizada como disfluências típicas da gagueira. O subtipo de gagueira desenvolvimental persistente familial foi caracterizado principalmente por um distúrbio classificado quanto à severidade como leve. O risco dos familiares dos probandos afetados foi de 8,5%. A gagueira afetou mais pessoas do gênero masculino em relação ao feminino, numa proporção de 3,72:1.

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“…Although the etiology of developmental stuttering is not well understood, there is a consensus that genetic factors are involved, and studies of twins (Howie, 1981;Andrews et al, 1991;Felsenfeld et al, 2000;Ooki, 2005;Dworzynski et al, 2007;Fagnani et al, 2011;Rautakoski et al, 2012) and families (Kidd et al, 1978;Seider et al, 1983;Cox et al, 1984;Viswanath et al, 2004) have contributed to the substantial evidence for the role of inherited factors in the etiology of this disorder. Despite the extensive evidence for genetic factors, however, the exact mode of transmission in families is not well defined, and it is unlikely to be the same in all families and populations (Alm and Risberg, 2007).…”

Section: Introductionmentioning

confidence: 99%

A genetic linkage study in Brazil identifies a new locus for persistent developmental stuttering on chromosome 10

Domingues¹,

Olivera²,

Oliveira³

et al. 2014

Genet. Mol. Res.

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ABSTRACT. Although twin, adoption, and family studies demonstrate that genetic factors are involved in the origins of stuttering, the mode of transmission of the disorder in families is not well defined and stuttering is considered a genetically complex trait. We performed a genomewide linkage scan in a group of 43 Brazilian families, each containing multiple cases of persistent developmental stuttering. Linkage analysis under a dominant model of inheritance generated significant evidence of linkage in two Brazilian families, with a combined maximum Linkage to persistent stuttering on chromosome 10 single-point LOD score of 4.02 and a multipoint LOD score of 4.28 on chromosome 10q21. This demonstrated the presence of a novel variant gene at this locus that predisposes individuals to stuttering, which provides an opportunity to identify novel genetic mechanisms that underlie this disorder.

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Genetic and environmental effects on stuttering: A twin study from Finland

Cited by 40 publications

References 35 publications

Genetic contributions to stuttering: the current evidence

Genetic contributions to stuttering: the current evidence

Gagueira desenvolvimental persistente familial: disfluências e prevalência

A genetic linkage study in Brazil identifies a new locus for persistent developmental stuttering on chromosome 10

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