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Título: Developmental follow-up of 90 adolescents and adult PKU patients: results and challenges of a multidisciplinary approach
Autor: Carmona, Carla
Palavras-chave: Genetic Diseases
Neurocognitive Development/adolescents and Adults
Doenças Genéticas
Issue Date: 2011
Editora: Instituto Nacional de Saúde Doutor Ricardo Jorge, IP
Resumo: Introduction: Severe neurological disability caused by Phenylketonuria (PKU) can largely be prevented by a strict reduced phenylalanine (Phe) diet started in the neonatal period. However, the deficits observed in specific domains of school performance and a specific profile in intellectual quotient tests (IQ) seemed to suggest a degree of neurobiological impairment. In fact, early-treated PKU patients are, in some cases, referred as having a slight decrease in IQ coupled with impairments in specific aspects of cognition, including specific deficits in executive function. The main purposes of this study was to characterize our adolescent and adult PKU patients and understand the way they adapt to this chronic condition at different ages and in the different contexts of life. Methods: We studied 90 patients aged 12 – 31 years. We considered the quality of dietetic control (the annual medians of Phe) as independent variables. The treatment outcome was evaluated considering IQ as a global value, the subtest profile in IQ tests, the level of school education attained and their professional career. Results: Although their global IQ levels are in the normal range, we found a profile of cognitive and behavioural difficulties. These difficulties condition the level of studies attained and their professional careers, suggesting the need special multidisciplinary supervision through life.
Appears in Collections:DGH - Apresentações orais em encontros internacionais

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