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Doctoral Thesis
DOI
10.11606/T.61.2006.tde-14112006-100149
Document
Author
Full name
Aline Silva Lara de Alvarenga
E-mail
Institute/School/College
Knowledge Area
Date of Defense
Published
Bauru, 2006
Supervisor
Committee
Zorzetto, Neivo Luiz (President)
Crenitte, Patricia Abreu Pinheiro
Feniman, Mariza Ribeiro
Giacheti, Célia Maria
Vitto, Luciana Paula Maximino de
Title in Portuguese
Síndrome Kabuki: diagnóstico fonoaudiológico
Keywords in Portuguese
Aprendizagem
Fala
Genética
Linguagem
Síndrome Kabuki
Abstract in Portuguese
Objetivo: O objetivo deste estudo, portanto, é caracterizar a linguagem oral de indivíduos portadores da Síndrome Kabuki (SK). Existem ainda poucos estudos sobre a SK e as habilidades lingüísticas dos indivíduos por ela acometidos. Material e Método: participaram deste estudo 6 sujeitos com SK compondo o grupo investigado (GI) e 12 sujeitos compondo o grupo controle (GC). Todos os sujeitos foram submetidos à anamnese fonoaudiológica, avaliação audiológica, avaliação clínica fonoaudiológica e avaliação fonoaudiológica complementar. Resultados: os achados fonoaudiológicos evidenciaram que 66% dos sujeitos com SK apresentavam perda auditiva. As habilidades lingüísticas dos sujeitos com SK apresentaram-se comprometidas quando comparadas com o GC pareados por sexo e idade mental. Todos os sujeitos com SK apresentaram comprometimento da funcionalidade da comunicação. Os dados da avaliação clínica, comparados aos dados do Teste Illinois de Habilidades Psicolingüísticas (ITPA), evidenciaram que o indivíduo com menor alteração da linguagem apresentou comprometimento na maioria dos subtestes do ITPA, caracterizando alteração nas habilidades perceptivas auditivas e visuais. Conclusões: Os sujeitos com SK apresentaram relevante comprometimento da funcionalidade da comunicação quando comparados aos indivíduos do GC, sem a referida síndrome. O comprometimento cognitivo pode levar o indivíduo a esta condição e a deficiência auditiva, quando presente, pode agravar o quadro. As alterações da fala relacionadas à produção dos sons pode estar diretamente relacionada ao déficit cognitivo encontrado nos sujeitos deste estudo e ao comprometimento perceptual auditivo encontrado na população.
Title in English
Kabuki Symdrome: speech and language Diagnosis
Keywords in English
Genetics
Kabuki Syndrome
Language
Learning
Speech
Abstract in English
Aim: the objective of this study is to characterize the oral language of Kabuki Syndrome (KS) affected population. There are few studies about KS and the linguistic abilities of population affected population. Material and Method: 6 KS holders took part in this study compounding the investigated group (IG) and 12 people compounding the control group (CG). All of them were submitted to anamnesis, audiologic assessment, clinical communication evaluation and communication complementary evaluation. Results: The findings showed that 66% of KS holders had hearing impairment. The linguistic abilities of KS holders were bind when compared to the CG separated by sex and mental age. All of the KS holders had communication functionality disability. The clinical evaluation data, compared with data from the Illinois Test of Psycholinguistic Ability (ITPA), showed that the person with less speech alteration showed less alteration results in most of ITPA subtests when compared with others holders of the same group. Conclusions: The KS affected population showed relevant disabilities in functionality communication when compared with the CG, people not affected by the syndrome. The cognitive disabilities can lead the person to this condition and the hearing impairment, when present, may make the situation worse. The speech alterations related to sound production may be directly related to the cognitive deficit found in the studied people and to the impairment of auditory perception found in the population.
 
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Publishing Date
2006-12-20
 
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