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Master's Dissertation
DOI
10.11606/D.61.2006.tde-14112006-105544
Document
Author
Full name
Giselda Santiago
E-mail
Institute/School/College
Knowledge Area
Date of Defense
Published
Bauru, 2006
Supervisor
Committee
Zorzetto, Neivo Luiz (President)
Bicudo, Lucilene Arilho Ribeiro
Capellini, Simone Aparecida
Title in Portuguese
Holoprosencefalia: clínica e linguagem
Keywords in Portuguese
Holoprosencefalia
linguagem e aprendizagem
Abstract in Portuguese
Objetivo: Estudar o desempenho de linguagem oral e escrita em uma população de indivíduo sem mutação e portadores de mutações nos genes SHH e GLI2 e que apresentam um fenótipo particular denominado de “Holoprosencefalia-Like” (HPE-like) e comparar os achados com perfil obtido através de estudos com indivíduos normais. Modelo: Análise prospectiva comparando os achados da linguagem oral e escrita entre três grupos: indivíduos com HPE-like com mutação (GI), indivíduos com HPE-like sem mutação (GII) e grupo controle (GIII), a um nível de significância de 5%. Local de Execução: Setor de Genética, HRAC-USP. Participantes: 15 indivíduos, com idades entre 3 anos e 9 meses e 20 anos e 4 meses, sendo 5 com HPE-like com mutação previamente detectada nos genes SHH ou GLI2, 5 com HPE-like sem mutação, e um grupo controle de 5 indivíduos normais. Variáveis: Teste Illinois de Habilidades Psicolingüísticas (ITPA), Teste de Desempenho Escolar (TDE), Token Teste (TT), Prova de Consciência Fonológica (PCF), Provas de níveis de leitura (NL) e Provas de Velocidades de leitura oral/silenciosa (VLO/VLS). Resultados: Dos 05 (cinco) indivíduos com HPE-like com mutação, 02 (dois) indivíduos apresentaram distúrbios de aprendizagem, 01 (um) distúrbio específico da aprendizagem matemática (discalculia), 01 (um) distúrbio de linguagem e articulação e 01 (um) obteve resultado dentro da normalidade. Dos 05 (cinco) indivíduos com HPE-like sem mutação, 03 (três) apresentaram distúrbios de aprendizagem e 02 (dois) obtiveram resultado dentro da normalidade. Conclusões: Na avaliação fonoaudiológica realizada com indivíduos com HPE-like, foi possível concluir, que os indivíduos com HPE-like com mutação apresentaram desempenho inferior nos aspectos avaliados em relação aos indivíduos com HPE-like sem mutação.
Title in English
Holoprosencephaly: clinic e language
Keywords in English
Holoprosencephaly
language
learning
Abstract in English
Objective: To study oral and written language performance in patients without genetic mutations and with SHH or GLI2 mutations, presenting a peculiar phenotype named “Holoprosencephaly-like” (HPE-like, and compare these findings to those obtained with normal individuals. Model: Prospective analysis comparing oral and written language findings among 3 groups: patients with HPE-like and genetic mutation (GI), patients with HPE-like without mutation (GII), and control group (GIII), at a 5% significance level. Setting: Genetics Department, HRAC-USP. Participants: 15 individuals, with ages ranging from 3 years and 9 months to 20 years and 4 months. 5 had HPE-like with a SHH or GLI2 mutation previously detected, 5 had HPE-like without mutation and 5 normal individuals who joined the control group. Variables: Illinois Test of Psycholinguistic Abilities (ITPA), Academic Performance Test (TDE), Token Test (TT), Phonologic Awareness Task (PCF), Reading level tasks (NL) and reading loud/silent speed tasks (VLO/VLS). Results: Of 5 patients with HPE-like and mutation, 2 had learning disabilities, 1 had specific disorder in math (dyscalculia), 1 had language and articulation impairment and 1 had normal results. From 5 patients with HPE-like without mutation, 3 had learning disabilities and 2 had normal results. Conclusions: Considering language assessment performed in individuals with HPE-like we can conclude that the group with HPE-like and mutation had better results than the group with HPE-like without mutation.
 
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dissertGiselda.pdf (1.09 Mbytes)
Publishing Date
2006-12-20
 
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