Análise de variações biológicas em indivíduos com gagueira desenvolvimental persistente familiar
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Data
2013-02-25
Autores
Oliveira, Breila Vilela de [UNESP]
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Universidade Estadual Paulista (Unesp)
Resumo
A gagueira é uma desordem da comunicação oral que tem uma característica multidimensional. O modelo exato de transmissão da herança genética para a gagueira ainda não está claramente definida e, provavelmente pode ser diferente entre diferentes famílias e populações. As análises genômicas demonstram, concomitantemente, a relevância dos componentes genéticos envolvidos e sua complexidade, sugerindo assim tratar-se de uma doença poligênica, na qual diversos genes de efeitos variados podem estar envolvidos com o aumento da susceptibilidade de ocorrência da gagueira. Estudos de neuroimagem funcional vêm sendo realizados com indivíduos gagos ao longo dos anos. A Ressonância magnética funcional (RMf), por ser um método não invasivo, é um exame muito utilizado para avaliar as atividades cerebrais no momento de fala. O objetivo deste trabalho foi o de verificar se existem variações biológicas em indivíduos com gagueira desenvolvimental persistente familial (GDPF) por meio de três métodos de avaliação: fonoaudiológica, genética e de neuroimagem funcional, que foram aplicados em 8 indivíduos adultos do sexo masculino, destros, diagnosticados com GDPF. As avaliações também foram realizadas nos controles, os quais foram pareados por sexo e idade ao grupo amostral. Para a avaliação fonoaudiológica foi utilizada a metodologia proposta por Andrade (2004) e o SSI-3. Todos os participantes tiveram amostras de seu DNA coletados a partir de amostras de sangue periférico. Foi realizado sequenciamento dos éxons do gene FOXP2. Para avaliação de neuroimagem funcional foi utilizada a RMf, aplicando-se três tarefas de fala diferentes. Os achados fonoaudiológicos foram distintos em gagos e controles. Os resultados da avaliação genética não apontaram variação biológica entre gagos e controles, já os resultados da RMf mostraram variação entre os dois grupos quanto ao hemisfério e/ou lobo cerebral ativado
Stuttering is a disorder of oral communication that has a multidimensional character. The exact transmission pattern of genetic inheritance for stuttering is still not clearly defined and might probably be different among different families and populations. Genomic analysis have shown, concomitantly, the relevance of the genetic components involved and their complexity, thus suggesting that this is a polygenic disease in which several genes of different effects may be involved with the increased susceptibility of occurrence of stuttering. Functional neuroimaging studies have been conducted with stutterers throughout the years. A magnetic resonance imaging (fMRI), to be a noninvasive method, is a test much used to assess brain activity when speech. The objective of this study was to check whether there are biological variations among individuals with familial persistent developmental stuttering (FPDS) through three methods of evaluation: speech therapy, genetic and neuroimaging data, which were applied in 8 adult male, right-handed diagnosed with FPDS. The evaluations were also performed at the controls, who were the same sex and age of the sample group. For the speech evaluation was used the methodology proposed by Andrade (2004) and SSI-3. All participants had their DNA samples collected from peripheral blood samples. We carried out sequencing of exons of the gene FOXP2. To evaluate functional neuroimaging was used fMRI, applying three different speech tasks. Speech disorders found were different in stutterers and controls. The evaluation results showed no genetic variation between stutterers and biological controls and the results of fMRI showed variation between the two groups in the hemisphere and/or cerebral lobe activated
Stuttering is a disorder of oral communication that has a multidimensional character. The exact transmission pattern of genetic inheritance for stuttering is still not clearly defined and might probably be different among different families and populations. Genomic analysis have shown, concomitantly, the relevance of the genetic components involved and their complexity, thus suggesting that this is a polygenic disease in which several genes of different effects may be involved with the increased susceptibility of occurrence of stuttering. Functional neuroimaging studies have been conducted with stutterers throughout the years. A magnetic resonance imaging (fMRI), to be a noninvasive method, is a test much used to assess brain activity when speech. The objective of this study was to check whether there are biological variations among individuals with familial persistent developmental stuttering (FPDS) through three methods of evaluation: speech therapy, genetic and neuroimaging data, which were applied in 8 adult male, right-handed diagnosed with FPDS. The evaluations were also performed at the controls, who were the same sex and age of the sample group. For the speech evaluation was used the methodology proposed by Andrade (2004) and SSI-3. All participants had their DNA samples collected from peripheral blood samples. We carried out sequencing of exons of the gene FOXP2. To evaluate functional neuroimaging was used fMRI, applying three different speech tasks. Speech disorders found were different in stutterers and controls. The evaluation results showed no genetic variation between stutterers and biological controls and the results of fMRI showed variation between the two groups in the hemisphere and/or cerebral lobe activated
Descrição
Palavras-chave
Disturbios da fala, Gagueira, Genetica - Pesquisa, Ressonancia magnetica, Fonoaudiologia, Genetics
Como citar
OLIVEIRA, Breila Vilela de. Análise de variações biológicas em indivíduos com gagueira desenvolvimental persistente familiar. 2013. 48 f. Dissertacao (mestrado) - Universidade Estadual Paulista Julio de Mesquita Filho, Instituto de Biociências de Botucatu, 2013.