Cognição social e funcionamento executivo em pacientes com fenilcetonúria
Data
2020-10-29
Autores
Duarte, Cristiane Mendes de Almeida 
Orientadores
Mello, Claudia Berlim de
Tipo
Dissertação de mestrado
Título da Revista
ISSN da Revista
Título de Volume
Resumo
A fenilcetonúria (PKU) é uma doença autossômica recessiva causada pela deficiência da enzima fenilalanina-hidroxilase, que converte a fenilalanina em tirosina. O tratamento envolve dietoterapia com restrição de alimentos com alto teor de fenilalanina, uma vez que o acúmulo deste aminoácido pode prejudicar o desenvolvimento cerebral. Embora o tratamento dietético leve a melhor desfecho cognitivo e comportamental, estudos em PKU têm revelado um rebaixamento dos indicadores de inteligência, além de déficits de cognição social e de funcionamento executivo em crianças diagnosticadas. O quanto essas alterações cognitivas estão associadas a variações nos níveis de fenilalanina precisa ser melhor investigado. Objetivo: O objetivo principal deste estudo foi investigar, em amostras de crianças com PKU o desempenho em testes de Funções Executivas e de Cognição Social e suas associações com o controle metabólico, investigado por meio do histórico dos níveis plasmáticos de fenilalanina. Método: Participaram do estudo (n=27, 11,01 ± 2,98 anos de idade) com PKU e com desenvolvimento típico (n=28, 9,82 ± 2,13 anos de idade), A avaliação neuropsicológica abrangeu testes de fluência verbal fonológica, memória operacional, controle inibitório (Funções Executivas), bem como de Reconhecimento de Emoções e Teoria da Mente (Cognição Social). Também foram empregadas escalas comportamentais respondidas pelos responsáveis, para investigar sintomas internalizantes ou externalizantes. No tratamento dos dados foram realizadas análises descritivas, analíticas (como o Generalized Lineal Model) e de regressão. Resultados: Os resultados revelaram que o baixo controle metabólico, aferido por variações no nível de fenilalanina, teve efeito significante e negativo sobre habilidades de cotrole inibitório, memória operacional não verbal e teoria da mente, mas não sobre o desempenho intelectual. Portanto, habilidades seletivas do domínio executivo e da Cognição Social parecem ser mais susceptíveis a pior controle metabólico.Conclusão: Estes achados reforçam a importância do controle dietético em crianças com fenilcetonúria.
Phenylketonuria is an autosomal recessive disease caused by deficiency of the enzyme phenylalanine hydroxylase, which converts phenylalanine into tyrosine. The treatment involves diet therapy with food restriction high in phenylalanine, since the accumulation of this amino acid can harm the brain development. Although dietary treatment leads to better cognitive and behavioral outcome, studies in PKU have revealed a lowering of intelligence indicators, in addition to cognitive social and executive functioning deficits in diagnosed children. How much these cognitive changes are associated with variations in levels of phenylalanine needs to be further investigated. Objective: The main objective of this study was to investigate, in samples of children with PKU, the performance in Executive Function and Social Cognition tests and their associations with the metabolic control, investigated through the history of plasma levels of phenylalanine. Method: In the study the (n = 27, 11.01 ± 2.98 years of age) with PKU and with typical development (n = 28, 9.82 ± 2.13 years of age) neuropsychological assessment included verbal fluency tests phonological, working memory, inhibitory control (Executive Functions), as well as Emotion Recognition and Theory of Mind (Social Cognition). Behavioral scales were also used to investigate internalizing or externalizing symptoms. Descriptive, analytical analyses (such as the Generalized Lineal Model) and regression were used on the data treatment. Results: The results revealed that the low metabolic control, measured by variations in the level of phenylalanine, had a significant and negative effect on control skills inhibitory, non-verbal working memory and theory of mind, but not about the intellectual performance. Therefore, selective skills in the executive domain and of Social Cognition seem to be more susceptible to worse control Conclusion: These findings reinforce the importance of dietary control in children with phenylketonuria.
Phenylketonuria is an autosomal recessive disease caused by deficiency of the enzyme phenylalanine hydroxylase, which converts phenylalanine into tyrosine. The treatment involves diet therapy with food restriction high in phenylalanine, since the accumulation of this amino acid can harm the brain development. Although dietary treatment leads to better cognitive and behavioral outcome, studies in PKU have revealed a lowering of intelligence indicators, in addition to cognitive social and executive functioning deficits in diagnosed children. How much these cognitive changes are associated with variations in levels of phenylalanine needs to be further investigated. Objective: The main objective of this study was to investigate, in samples of children with PKU, the performance in Executive Function and Social Cognition tests and their associations with the metabolic control, investigated through the history of plasma levels of phenylalanine. Method: In the study the (n = 27, 11.01 ± 2.98 years of age) with PKU and with typical development (n = 28, 9.82 ± 2.13 years of age) neuropsychological assessment included verbal fluency tests phonological, working memory, inhibitory control (Executive Functions), as well as Emotion Recognition and Theory of Mind (Social Cognition). Behavioral scales were also used to investigate internalizing or externalizing symptoms. Descriptive, analytical analyses (such as the Generalized Lineal Model) and regression were used on the data treatment. Results: The results revealed that the low metabolic control, measured by variations in the level of phenylalanine, had a significant and negative effect on control skills inhibitory, non-verbal working memory and theory of mind, but not about the intellectual performance. Therefore, selective skills in the executive domain and of Social Cognition seem to be more susceptible to worse control Conclusion: These findings reinforce the importance of dietary control in children with phenylketonuria.
Descrição
Citação
DUARTE, Cristiane Mendes de Almeida. Cognição social e funcionamento executivo em pacientes com fenilcetonúria. São Paulo, 2020. 76 f. Dissertação (Mestrado em Psicobiologia) – Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, 2020