Desenvolvimento infantil na fenilcetonúria: atuação fonoaudiológica
Infantile development in phenilketonuria: speech and language pathology action
Dionísia Aparecida Cusin Lamônica; Mariana Germano Gejão; Amanda Tragueta Ferreira; Greyce Kelly da Silva; Fernanda da Luz Anastácio-Pessan
Resumo
Tema: a fenilcetonúria é manifestada por deficiência parcial ou total da enzima hepática fenilalanina hidroxilase que, em excesso, tem efeito tóxico para as funções do sistema nervoso central, refletindo no desenvolvimento global do indivíduo.
Objetivo: apresentar as alterações no desenvolvimento verificadas em estudos científicos com indivíduos portadores de fenilcetonúria e refletir sobre as habilidades relacionadas ao desenvolvimento da linguagem.
Conclusão: indivíduos com fenilcetonúria são de risco para alterações nas funções cognitivas, linguísticas, motoras e comportamental-social. Déficits nas funções executivas e habilidades neuropsicolinguísticas são comuns e acarretam defasagens para o desenvolvimento das habilidades de linguagem. Os achados justificam o encaminhamento de proposta para o Ministério da Saúde com vistas à contratação de Fonoaudiólogos nos Programas de Triagem Neonatal credenciados.
Palavras-chave
Abstract
Background: phenylketonuria is manifested by partial or total deficiency of the hepatic enzyme phenylalanine hydroxylase that, in excess, has a toxic effect on the central nervous system functions, reflecting in the individual's global development.
Purpose: to submit the alterations in the development verified in scientific studies with individuals with phenylketonuria, and to contemplate the abilities related to language development.
Conclusion: individuals with phenylketonuria are risky for alterations in the cognitive, linguistics, motor and social-behavior functions. Deficits in the executive functions and neuropsychological abilities are common and imply in discrepancies as for language abilities development. The findings justify the proposal forwarding to the Ministry of Health with views to contracting a Speech and Language Pathologist in the accredited Neonatal Screening Programs.
Keywords
References
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Submitted date:
01/27/2009
Accepted date:
07/11/2009
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