Familial persistent developmental stuttering: disfluencies and prevalence
Gagueira desenvolvimental persistente familial: disfluências e prevalência
Paula Roberta Nogueira; Cristiane Moço Canhetti de Oliveira; Célia Maria Giacheti; Danilo Moretti-Ferreira
Abstract
Purpose: to characterize and to compare the frequency of speech disfluency in adults with familial persistent developmental stuttering in males and females, the stuttering severity and then to determinate the familial prevalence and the sex ratio of stuttering among the families members of probands.
Methods: subjects were 30 adults who stutter (ages between 18 and 53 years old), divided in two groups: one with 20 males, and the other with 10 females. Data were gathered by clinical and familial history, fluency assessment and Stuttering Severity Instrument.
Results: the percentages of stuttering-like disfluencies (SLD) (p=0.352), of other disfluencies (OD) (p=0.947) and of total disfluencies (TD) (p=0.522) were similar between males and females. A mean of 5.23% of SLD and 5.5% of OD were found among subjects. The mild subgroup was the prevalent one among the participants (83.3%). The members of male's families presented a greater risk to stutter when compared to females (p<0,001). From the 1002 members of the families analyzed, 85 presented stuttering, of which 53 were male and 32 female.
Conclusions: there were no differences between males and females concerning the analyzed measures. Regarding the frequency of disfluencies, results around a half of the total disfluencies were characterized as SLD. The subgroup of familial persistent developmental stuttering was characterized mainly as mild. The risk among relatives of affected probands was 8.5%.The familial prevalence data showed that risk that a person has to manifest stuttering when there is some familial affected was 8.5%.The sex ratio of stuttering was 3.72 males to 1 female (3.72:1).
Keywords
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.
Palavras-chave
Referências
1. Bleek B, Reuter M, Yaruss JS, Cook S, Faber J, Montag C. Relationship between personality characteristics of people who stutter and the impact of stuttering on everyday life. J Fluency Disord. 2012;37:325-33.
2. Civier O, Bullock D, Max L, Guenther FH. Computational modeling of stuttering caused by impairments in a basal ganglia thalamo-cortical circuit involved in syllable selection and initiation. Brain Lang. 2013;126:263-78.
3. Cook S, Donlan C, Howell P. Stuttering severity, psychosocial impact and lexical diversity as predictors of outcome for treatment of stuttering. J Fluency Disord. 2013;38:124-33.
4. Sasisekaran J. Nonword repetition and nonword reading abilities in adults who do and do not stutter. J Fluency Disord. 2013;38:275-89.
5. Liu J, Wang Z, Huo Y, Davidson SM, Klahr K, Herder CL et al. A functional imaging study of self-regulatory capacities in persons who stutter. Plos One. 2014;9(2):898-91.
6. Smith A, Sadagopan N, Walsh B, Weber-Fox C. Increasing phonological complexity reveals heightened instability in inter-articulatory coordination in adults who stutter. J Fluency Disord. 2010;35:1-18.
7. Oliveira CMC, Souza HA, Santos AC, Cunha DS. Análise dos fatores de risco para gagueira em crianças disfluentes sem recorrência familial. Rev CEFAC. 2012;14(6):1028-35.
8. Karimi H, Jones M, O'Brian S, Onslow M. Clinician percent syllables stuttered, clinician severity ratings and speaker severity ratings: are they interchangeable? Int J Lang Commun Disord. 2014;49(3):364-8.
9. Howell P. Screening school-aged children for risk of stuttering. J Fluency Disord. 2013;38:102-23.
10. Bakhtiar M, Seifpanahi S, Ansari H, Ghanadzade M, Packman A. Investigation of the reliabitity of the SSI-3 for preschool Persian-speaking children who stutter. J Fluency Disord. 2010;35:87-91.
11. Riley GD. Stuttering Severity Instrument for Children and Adults. Austin: Pro Ed; 1994.
12. Rautoski P, Hannus T, Simberg S, Sandnabba NK, Santtila P. Genetics and environmental effects on stuttering: A twin study fron Finland. J Fluency Disord. 2013;38:202-10.
13. Domingues CEF, Canhetti-Oliveira CMC, Oliveira BV, Juste FS, Andrade CRF, Giachetti CM et al. A genetic linkage study in Brazil identifies a new locus for persistent developmental stuttering on chromosome 10. Genet Mol Res. 2014;13:2094-101.
14. Drayna D, Kilshaw J, Kelly J. The sex ratio in familial persistent stuttering. Am J Hum Genet. 1999;65:1473-5.
15. Yairi E, Ambrose NG, Cox N. Genetics of stuttering: a critical review. J Speech Lang Hear Res. 1996;39:771-84.
16. Ambrose NG, Cox NJ, Yairi E. The genetic basis of persistence and recovery in stuttering. J Speech Lang Hear Res. 1997;40(3):567-80.
17. Kang C, Riazuddin S, Mundorff J, Krasnewich D, Friedman P, Mullikin JC et. al. Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering. N England J Med. 2010;362:677-85.
18. Raza MH, Riazuddin S, Drayna D. Identification of an autosomal recessive stuttering locus on chromosome 3q13.2-3q13.33. Hum Genet. 2010;128:461-3.
19. Wittke-Thompson JK, Ambrose N, Yairi E, Roe C, Cook EH, Ober C et al. Genetic studies of stuttering in a founder population. J Fluency Disord. 2007;32(1):33-50.
20. Martins VO, Andrade CRF. Perfil evolutivo da fluência da fala de falantes do Português brasileiro. Pró-Fono R Atual Cien. 2008;20(1):7-12.
21. Gregg AB, Yairi E. Disfluency patterns and phonological skills near stuttering onset. J Commun Disord. 2012;45:426–38.
22. Tumanova V, Conture EG, Lambert EW. Speech disfluencies of preschool-age children who do and do not stutter. J Commun Disord. 2014;49:25-41.
23. Yairi E, Ambrose N. Epidemiology of stuttering: 21 st century advances. J Speech Lang Hear Res. 2013;66:66-87.
24. Juste F, Andrade CRF. Tipologia das rupturas de fala e classes gramaticais em crianças gagas e fluentes. Pró-Fono R Atual. Cient. 2006;18(2):129-40.
25. Souza BJ, Paschoalino CF, Cardoso MV, Oliveira CMC. Frequência e tipologia das disfluências: Análise comparativa entre taquifemicos e gagos. Rev CEFAC. 2013;15(4):857-63.
26. Ingham RJ, Wang Y, Ingham JC, Bothe AK, Graftonc ST. Regional brain activity change predicts responsiveness to treatment for stuttering in adults. Brain Lang. 2013;127:510-9.
27. Andrade CRF. Perfil familial da fluência da fala - estudo linguístico, acústico e eletromiográfico. Pró-Fono R Atual Cient. 2010;22(3):169-74.
28. Manning W, Beck JG. The role of psychological processes in estimates of stuttering severity. J Fluency Disord. 2013;38:356-67.
29. Yairi E, Ambrose NG, Paden EP, Throneburg RN. Predictive factors of persistence and recovery: pathways of childhood stuttering. J Commun Disord. 1996;29(1):51-77.
30. Andrews G, Craig A, Feyer AM, Hoddinott S, Howie P, Neilson M. Stuttering a review of research findings and theories circa. J Speech Hear Res. 1983;48:226-46.
31. Kidd KK, Heimburch R, Records M. Vertical transmission of susceptibility to stuttereres with sex-modified expression. Proc Natl Acad Sci.1981;78:606-10.
Submetido em:
24/05/2014
Aceito em:
15/07/2014
Facebook
Twitter
LinkedIn
Mendeley
Email