CoDAS
https://codas.org.br/journal/codas/article/doi/10.1590/2317-1782/20182018177
CoDAS
Relato de Caso

Language, neurodevelopment and behavior in Angelman syndrome: case report

Linguagem, neurodesenvolvimento e comportamento na Síndrome de Angelman: relato de caso

Ana Teresa Hernandes Teodoro; Daphyne Yachel Chaves; Patrícia Abreu Pinheiro Crenitte; Simone Rocha de Vasconcellos Hage; Dionísia Aparecida Cusin Lamônica.

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Abstract

Purpose: The objective of this study is to present findings of language, behavior, and neurodevelopment of a girl diagnosed with Angelman Syndrome, evaluated at age three and eight. Methods: The evaluation instruments were Observation of Communication Behavior, Early Language Milestone Scale (ELM) and Denver Developmental Screening Test DENVER-II (TSDD-II). Results: In the case presented, the presence of AS phenotype signals can be verified, such as large mouth, spaced teeth, protuberant tongue, strabismus, ascending palpebral fissures, and sialorrhea. In the language evaluation, expressive and receptive deficits were verified, with the absence of orality and loss of comprehension with very similar performances in both evaluations. ELM and TSDD-II tests indicated the severe commitment of all abilities evaluated at both three and eight years old. The performances in both evaluations were very similar through all areas of child development. Over the years, there has been little progress, despite the great therapeutic and educational investment. Conclusion: The presence of a complex scenario like AS demands high complexity clinical needs, a situation which is aggravated due to the scarcity of therapeutic resources that could minimize harmful impacts of AS, culminating in an increase of quality of life to the AS population, as well as to their families.

Keywords

Angelman Syndrome, Child Language, Child Development, Psychomotor Performance, Behavior.

Resumo

Objetivo: O objetivo deste estudo é apresentar achados de linguagem, comportamento e neurodesenvolvimento de uma menina com diagnóstico da Síndrome de Angelman, avaliada aos três e aos oito anos. Método: Os instrumentos de avaliação foram Observação do Comportamento Comunicativo, Early Language Milestone Scale (ELM) e Teste de Screening de Desenvolvimento DENVER-II (TSDD-II). Resultados: No caso apresentado, verifica-se a presença dos sinais fenotípicos da SA, tais como boca larga, dentes espaçados, língua protuberante, estrabismo, fissuras palpebrais ascendentes e sialorreia. Na avaliação de linguagem, foram verificados déficits expressivos e receptivos, com ausência de oralidade e prejuízos na compreensão. O TSDD-II e a ELMS indicaram grave comprometimento de todas as habilidades avaliadas aos três e aos oito anos. O desempenho encontrado, nas duas avaliações, foi muito semelhante em todas as áreas do desenvolvimento infantil. Ao longo dos anos, verificou-se pouca evolução, apesar do grande investimento terapêutico e educacional. Conclusão: A presença de um quadro complexo como a SA demanda necessidades clínicas de alta complexidade, situação agravada frente à escassez de recursos terapêuticos que possam minimizar os impactos deletérios da síndrome, culminando em comprometimento da qualidade de vida da população com a SA, bem como de suas famílias.

Palavras-chave

Síndrome de Angelman, Linguagem Infantil, Desenvolvimento Infantil, Desempenho Psicomotor, Comportamento.

Referências

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Submetido em:
20/07/2018

Aceito em:
05/12/2018

5d7572ad0e88250b3b19fc79 codas Articles

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