Persistent developmental stuttering: fluency assessment pre- and post-treatment

Objetivo: comparar a fluência de crianças com gagueira quanto à porcentagem de sílabas gaguejadas, porcentagem de descontinuidade da fala, fluxo de sílabas e palavras por minuto e gravidade da gagueira, em situação de pré e pós-aplicação do programa de intervenção fonoaudiológica. Método: participaram 10 crianças, na faixa etária de 6.0 a 11.11 anos, sendo 9 do gênero masculino e 1 do gênero feminino, provenientes do Laboratório de Estudos da Fluência. Todos os participantes deste estudo foram submetidos aos seguintes procedimentos agrupados em três etapas: (a) avaliação da fluência inicial; (b) desenvolvimento do processo terapêutico, e; (c) reavaliação da fluência. Resultado: em relação à avaliação após o programa terapêutico, observou-se uma melhora relevante no perfil da fluência, pois a maioria das medidas analisadas (descontinuidade de fala, disfluências gagas, fluxo de sílabas por minuto e gravidade da gagueira) apresentou diferenças estatisticamente significantes. Os achados indicaram que houve uma redução quantitativa nas rupturas o que ocasionou um aumento no fluxo de sílabas por minuto, e também uma diminuição na gravidade da gagueira. Estes resultados confirmam a eficácia terapêutica do programa de terapia aplicado. Conclusão: os resultados encontrados podem auxiliar o fonoaudiólogo em sua prática clínica, tanto na terapia como na realização do diagnóstico e do controle da eficácia terapêutica.Purpose: to compare the fluency of children who stutter as to the percentage of stuttered syllables, percentage of speech disruption, flow of syllables and word per minute and severity of stuttering in pre and post-therapeutic program. Method: 10 children, who stutter, aged from 6.0 to 11.11 years old, being 9 males and 1 female, from the Laboratório de Estudos da Fluência. All the participants underwent the following procedures: (a) initial assessment of fluency; (b) development of the therapeutic process, and (c) reassessment of fluency. Result: regarding the assessment post-treatment, there was a significant improvement in the fluency profile, because most of the analyzed measures (speech disruption, frequency of stuttered syllables, flow of syllables per minute and severity of stuttering) showed statically significant differences. The findings indicate that there was a quantitative reduction in the disruption in the flow of speech, which causes an increase in flow of syllables per minute, and also a decrease of the severity of stuttering. These results confirm the therapeutic efficacy of the applied therapy program. Conclusion: the results can assist the phonoaudiologist, in the therapy, both in the diagnostic assessment and in the control of therapeutic efficacy

Association of APOE, GCPII and MMP9 polymorphisms with common diseases and lipid levels in an older adult/elderly cohort

Background and aims: the characterization of candidate gene polymorphisms in elderly populations is an important tool for the identification of risk factors for age-related diseases and conditions. We aimed to genotype the APOE polymorphisms (rs429358 and rs7412), rs61886492 (1561C>T) and rs202720 of GCPII gene and rs3918242 (-1562C>T) of MMP9 gene in an older-adult/elderly cohort from Cuiaba city, Mato Grosso Brazil as well as to characterize risk factors for morbidities and conditions affecting this cohort.Methods: the studied population consisted of 570 subjects from Cuiaba city, Brazil, who were subjected to clinical interviews and blood collection for laboratory examinations and DNA extraction. Restriction Fragment Length Polymorphism Polymerase Chain Reaction (RFLP-PCR), sequence-specific primer PCR (SSP-PCR) and TaqMan (R) allelic discrimination assay were used for genotyping.Results: the frequencies of APOE epsilon 2 and epsilon 4 were 6.6% and 14.8%, respectively, and the frequencies of GCPII rs61886492 T allele, GCPII rs202720 C allele and MMP9 rs3918242 T allele were, respectively, 3.0%, 26.6% and 10.1%. Significant associations between APOE epsilon 2 allele with lower total cholesterol and LDL-cholesterol were found. in addition, MMP9 rs3918242 T allele was associated with higher LDL-cholesterol levels, suggesting a link between lipid metabolism alteration and cardiovascular disease.Conclusions: the present findings contributed to characterize risk factors specific for the studied population and to better understand the molecular physiopathology of common morbidities and conditions affecting older-adult/elderly people. (C) 2013 Elsevier B.V. All rights reserved.Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Fundacao de Amparo a Pesquisa do Estado de Mato Grosso (FAPEMAT)Universidade Federal de São Paulo UNIFESP, Dept Morfol & Genet, Discipline Genet, BR-04023900 São Paulo, BrazilUniv Cuiaba, UNIC, Fac Med, Unidade Genet, Cuiaba, Mato Grosso, BrazilUniv Fed Mato Grosso, Fac Ciencias Med, Dept Ciencias Basicas Saude, Cuiaba, Mato Grosso, BrazilUniversidade Federal de São Paulo UNIFESP, Dept Morfol & Genet, Discipline Genet, BR-04023900 São Paulo, BrazilWeb of Scienc