Intervenção fonoaudiológica na síndrome de kabuki: relato de caso
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Data
2010-08-01
Autores
Brito, Maria Cláudia [UNESP]
Misquiatti, Andréa Regina Nunes [UNESP]
Título da Revista
ISSN da Revista
Título de Volume
Editor
CEFAC Saúde e Educação
Resumo
TEMA: este trabalho teve como objetivo descrever o processo de intervenção fonoaudiológica em um caso de síndrome de Kabuki, com ênfase na terapia de linguagem. PROCEDIMENTOS: trata-se de relato de caso de uma criança de seis anos e seis meses de idade, gênero feminino, com diagnóstico de síndrome de Kabuki, que realizou terapia fonoaudiológica durante três anos em uma clínica-escola. Foi realizada análise documental dos dados do prontuário relativos à anamnese, avaliação e relatórios terapêuticos fonoaudiológicos, exames e avaliações multidisciplinares. Aos três anos e cinco meses, a criança passou por avaliação fonoaudiológica e apresentou, como histórico, características típicas da síndrome de Kabuki: alteração cardíaca, episódios de pneumonia, otite média secretora recorrente, alterações ortopédicas e crises convulsivas. Na avaliação fonoaudiológica, apresentou tempo de atenção auditiva e visual reduzido, dificuldade de compreensão oral, comunicação por meio de poucos gestos e vocalizações e problemas de comportamento. RESULTADOS: o processo terapêutico teve como objetivo principal promover o desenvolvimento da linguagem com ênfase na interação social por meio de atividades lúdicas, orientação familiar e escolar. Foi observada melhora na compreensão e emissão oral, no contato social e manutenção da atenção. CONCLUSÃO: este estudo permitiu divulgar o percurso de atuação fonoaudiológica na síndrome de Kabuki, do processo diagnóstico à terapia de linguagem. Verificou-se que a terapia foi eficaz no que se refere às habilidades comunicativas e de interação social. Esses dados podem contribuir para elucidar lacunas existentes na literatura acerca da terapia fonoaudiológica na síndrome em questão e subsidiar intervenções clínicas nesses casos.
BACKGROUND: this study aimed at describing the language intervention process in a Kabuki syndrome case, emphasizing the language therapy. PROCEDURES: this is a report of a six and a half year-old girl, diagnosed with Kabuki syndrome, who attended language therapy for three years at a clinical school. The documental analysis of the medical register form was made, concerning interview evaluation and language therapeutic reports, examination and multidisciplinary evaluations. When the child was three years and five months old, she went through language evaluation and showed typical characteristics of Kabuki syndrome: cardiac alterations, pneumonia, recurrent secretory otitis media, orthopedic alterations and convulsion crises. For the language evaluation, she presented a reduced period of hearing and visual attention, impaired oral comprehension, communication through only a few gestures and sounds and also behavioral problems. RESULTS: the therapeutic process aimed to promote language development emphasizing social interaction through ludic activities, and a familiar and scholar follow-up. An improvement was observed for comprehension and oral language, social interaction and attention steadiness. CONCLUSION: this study allowed the trajectory disclosure of language development concerning the Kabuki syndrome, from the diagnosis to the language therapy. It was observed that the therapy was effective concerning communication abilities and social interaction. These data may contribute to clarify some aspects in the literature towards the language therapy for the cited syndrome and also suggest clinical interventions for these cases.
BACKGROUND: this study aimed at describing the language intervention process in a Kabuki syndrome case, emphasizing the language therapy. PROCEDURES: this is a report of a six and a half year-old girl, diagnosed with Kabuki syndrome, who attended language therapy for three years at a clinical school. The documental analysis of the medical register form was made, concerning interview evaluation and language therapeutic reports, examination and multidisciplinary evaluations. When the child was three years and five months old, she went through language evaluation and showed typical characteristics of Kabuki syndrome: cardiac alterations, pneumonia, recurrent secretory otitis media, orthopedic alterations and convulsion crises. For the language evaluation, she presented a reduced period of hearing and visual attention, impaired oral comprehension, communication through only a few gestures and sounds and also behavioral problems. RESULTS: the therapeutic process aimed to promote language development emphasizing social interaction through ludic activities, and a familiar and scholar follow-up. An improvement was observed for comprehension and oral language, social interaction and attention steadiness. CONCLUSION: this study allowed the trajectory disclosure of language development concerning the Kabuki syndrome, from the diagnosis to the language therapy. It was observed that the therapy was effective concerning communication abilities and social interaction. These data may contribute to clarify some aspects in the literature towards the language therapy for the cited syndrome and also suggest clinical interventions for these cases.
Descrição
Palavras-chave
Genética, Linguagem, Avaliação, Reabilitação, Genetics, Language, Evaluation, Rehabilitation
Como citar
Revista CEFAC. CEFAC Saúde e Educação, v. 12, n. 4, p. 693-699, 2010.