Revista CEFAC
https://www.revistacefac.org.br/article/doi/10.1590/1982-0216201515313
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Phenylketonuria and reading and writing skills

Fenilcetonúria e habilidades de leitura e escrita

Dionísia Aparecida Cusin Lamônica; Mariana Germano Gejão; Fernanda Lima Anastácio-Pessan

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Abstract

Purpose: to verify the performance of individuals with phenylketonuria, diagnosed and treated early, in reading and writing, and to correlate this performance with receptive vocabulary and Intelligence Quotient.

Methods: 17 individuals between 7 and 14 years old participated. All of them attended 2nd to 7th grade in public schools. Data was collected from the medical records about diagnosis, treatment, socioeconomic level and scores of the Intelligence Quotient, and the following instruments were applied: Peabody Picture Vocabulary Test and the School Performance Test (writing and reading subtests). The parents answered questions about the school context. The statistical analysis was inferential and the Pearson correlation test (p≤ 0.05) was applied.

Results: analyzing the medical records, it was verified that none of the participants could keep the phenylalanine levels in normative indexes throughout life; 29.41% were diagnosed with Attention Deficit Hyperactivity Disorder, 41.17% presented sleep problems and 64.70% irritability and negativism. In the reading and writing subtests, 23.53% obtained scores compatible with their education level, in average levels or above; 41.18% obtained classification below the lower average in the assessment of receptive vocabulary through the Peabody Picture Vocabulary Test. There was a correlation between the performance in the reading and writing tests and the intelligence quotient scores and the performance in the receptive vocabulary test.

Conclusion: although the participants have obtained normative scores in intelligence quotient, they presented difficulties in the performance of the reading and writing subtests. Additional studies are necessary to really comprehend the academic needs of individuals with phenylketonuria.

Keywords

Phenylketonurias; Reading; Learning; Attention Deficit Disorder with Hyperactivity; Language

Resumo

Objetivo: verificar o desempenho de indivíduos com fenilcetonúria, diagnosticados e tratados precocemente, quanto à leitura e escrita e correlacionar este desempenho com vocabulário receptivo e Quociente Intelectual.

Métodos: participaram 17 indivíduos com idade cronológica entre 7 e 14 anos. Todos cursavam escolas públicas do 2o ao 7o ano. Foram coletados dados dos prontuários sobre diagnóstico, tratamento, nível socioeconômico e escores do Quociente Intelectual e aplicados os instrumentos: Teste de Vocabulário por Imagem Peabody e Teste de Desempenho Escolar (subtestes de escrita e leitura). Os pais responderam questões sobre o contexto escolar. A análise estatística foi inferencial e foi aplicado o Teste de correlação de Pearson (p≤ 0,05).

Resultados: analisando os prontuários verificou-se que nenhum participante conseguiu manter os níveis de fenilalanina em índices normativos ao longo da vida; 29,41% foram diagnosticados com Transtorno do Déficit de Atenção e Hiperatividade, 41,17% apresentavam problemas de sono e 64,70% irritabilidade e negativismo. Nos subtestes de leitura e escrita, 23,53% obtiveram escores compatíveis com seu grau de escolaridade, em níveis médios ou acima; 41,18% obtiveram classificação inferior à média baixa na avaliação do vocabulário receptivo por meio do Teste de Vocabulário por Imagem Peabody. Houve correlação entre o desempenho nas provas de leitura e escrita e os escores de quociente intelectual e o desempenho no teste de vocabulário receptivo.

Conclusão: embora os participantes tenham obtido escores normativos em quociente intelectual, apresentaram dificuldades no desempenho dos subtestes de leitura e escrita. Estudos adicionais são necessários para a real compreensão das necessidades acadêmicas de indivíduos com fenilcetonúria.

Palavras-chave

Fenilcetonúrias; Leitura; Aprendizagem; Transtorno do Déficit de Atenção com Hiperatividade; Linguagem

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Submetido em:
20/08/2013

Aceito em:
07/05/2014

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