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      Gagueira desenvolvimental persistente familial: disfluências e prevalência Translated title: Familial persistent developmental stuttering: disfluencies and prevalence

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          Abstract

          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.

          Translated abstract

          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 sexual ratio of stuttering among the families members of the probands. METHODS: participants 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 the males and females. The participants showed a mean of 5.23% of SLD and 5.5% of OD. The mild subgroup was the prevalent among the participants (83.3%). The male families' members showed greater risk to stutter when compared to the females (p<0.001). The results of 1002 families' members showed 85 familiars with stuttering, which 53 were male and 32 female. CONCLUSIONS: there were no differences between the males and females concerning to the analyzed measures. Regarding the frequency of disfluencies the results show that around a half of total disfluencies was 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 have to manifest stuttering when there is some familial affected was 8.5%.The sexual ratio showed stuttering affecting mainly males than females, and was 3.72:1.

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          Most cited references37

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          Computational modeling of stuttering caused by impairments in a basal ganglia thalamo-cortical circuit involved in syllable selection and initiation.

          Atypical white-matter integrity and elevated dopamine levels have been reported for individuals who stutter. We investigated how such abnormalities may lead to speech dysfluencies due to their effects on a syllable-sequencing circuit that consists of basal ganglia (BG), thalamus, and left ventral premotor cortex (vPMC). "Neurally impaired" versions of the neurocomputational speech production model GODIVA were utilized to test two hypotheses: (1) that white-matter abnormalities disturb the circuit via corticostriatal projections carrying copies of executed motor commands and (2) that dopaminergic abnormalities disturb the circuit via the striatum. Simulation results support both hypotheses: in both scenarios, the neural abnormalities delay readout of the next syllable's motor program, leading to dysfluency. The results also account for brain imaging findings during dysfluent speech. It is concluded that each of the two abnormality types can cause stuttering moments, probably by affecting the same BG-thalamus-vPMC circuit. Copyright © 2013 Elsevier Inc. All rights reserved.
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            Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.

            Stuttering is a disorder of unknown cause characterized by repetitions, prolongations, and interruptions in the flow of speech. Genetic factors have been implicated in this disorder, and previous studies of stuttering have identified linkage to markers on chromosome 12. We analyzed the chromosome 12q23.3 genomic region in consanguineous Pakistani families, some members of which had nonsyndromic stuttering and in unrelated case and control subjects from Pakistan and North America. We identified a missense mutation in the N-acetylglucosamine-1-phosphate transferase gene (GNPTAB), which encodes the alpha and beta catalytic subunits of GlcNAc-phosphotransferase (GNPT [EC 2.7.8.15]), that was associated with stuttering in a large, consanguineous Pakistani family. This mutation occurred in the affected members of approximately 10% of Pakistani families studied, but it occurred only once in 192 chromosomes from unaffected, unrelated Pakistani control subjects and was not observed in 552 chromosomes from unaffected, unrelated North American control subjects. This and three other mutations in GNPTAB occurred in unrelated subjects with stuttering but not in control subjects. We also identified three mutations in the GNPTG gene, which encodes the gamma subunit of GNPT, in affected subjects of Asian and European descent but not in control subjects. Furthermore, we identified three mutations in the NAGPA gene, which encodes the so-called uncovering enzyme, in other affected subjects but not in control subjects. These genes encode enzymes that generate the mannose-6-phosphate signal, which directs a diverse group of hydrolases to the lysosome. Deficits in this system are associated with the mucolipidoses, rare lysosomal storage disorders that are most commonly associated with bone, connective tissue, and neurologic symptoms. Susceptibility to nonsyndromic stuttering is associated with variations in genes governing lysosomal metabolism. 2010 Massachusetts Medical Society
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              Stuttering severity, psychosocial impact and lexical diversity as predictors of outcome for treatment of stuttering.

              This study assessed factors that predicted therapy outcome for children and adolescents who stuttered after attendance at an intensive therapy course. The factors examined were stuttering severity, lexical diversity measured by Type Token Ratio, and psychosocial impact of stuttering on the child's life. Fifty-four children who stuttered (CWS) participated in the study. The hypotheses were: (1) CWS with high initial stuttering severity would be more likely to persist than those with low initial severity; (2) lexical diversity before treatment should be related to therapy outcome; (3) psychosocial factors would affect therapy outcome. The predictions were assessed by linear and logistic regression analyses. Initial stuttering severity was the only significant predictor for stuttering severity after therapy. However, psychosocial impact correlated with improvement in fluency, and lexical diversity correlated with therapy outcome. Only initial stuttering severity was a significant predictor of therapy outcome after an intensive therapy intervention. This is in agreement with the study of Howell and Davis (2011). Readers will get an overview of the literature on risk factors that are considered to predict therapy outcomes for CWS. They will be able to (a) identify what variable represent potential risk factors, (b) describe the psychosocial impact of stuttering, (c) explain how lexical diversity is measured, and (d) describe different assessment instruments used to decide on the outcome of therapy. Copyright © 2012 Elsevier Inc. All rights reserved.
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                Author and article information

                Contributors
                Role: ND
                Role: ND
                Role: ND
                Role: ND
                Journal
                rcefac
                Revista CEFAC
                Rev. CEFAC
                CEFAC Saúde e Educação (São Paulo )
                1982-0216
                October 2015
                : 17
                : 5
                : 1441-1448
                Affiliations
                [1 ] Universidade Estadual Paulista Brazil
                [2 ] Universidade Estadual Paulista Brazil
                Article
                S1516-18462015000501441
                10.1590/1982-0216201517510214
                3790496a-6977-4a5b-9613-2a5382b12834

                http://creativecommons.org/licenses/by/4.0/

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                SciELO Brazil

                Self URI (journal page): http://www.scielo.br/scielo.php?script=sci_serial&pid=1516-1846&lng=en
                Categories
                REHABILITATION

                Physiotherapy
                Speech Language and Hearing Sciences,Speech,Evaluation,Speech Disorders,Stuttering,Genetic,Fonoaudiologia,Fala,Avaliação,Distúrbios da Fala, Gagueira,Genética

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