Executive functioning in patients with early- and continuously treated Phenylketonuria.

Liemburg, G. (Geertje) (2014) Executive functioning in patients with early- and continuously treated Phenylketonuria. thesis, Medicine.

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Abstract

Phenylketonuria (PKU) is the most prevalent inborn error in amino acid metabolism, in which phenylalanine (Phe) cannot be converted into tyrosine. Increased blood Phe concentrations lead untreated to mental retardation, neurological- and behavioral problems. Treatment with a Phe-restricted diet prevents most of the problems, but even early- and continuously treated patients present more problems with executive functions compared to the healthy population. Above the age 12 evident guidelines about treatment of PKU are not available, therefore we focused in this study on the effect of relaxation of the socially demanding diet on cognition. This study indentified problems regarding executive functioning of three subdomains in 81 early- and continuously treated PKU patients between 7 and 40 years: inhibition, cognitive flexibility and working memory. Executive functions were measured by Behavior Rating Inventory of Executive Function (BRIEF) questionnaire and Amsterdam Neuropsychological Tasks (ANT). 62 healthy age and gender matched population were included as controls. PKU patients scored significantly poorer on working memory compared to controls during adolescence and adulthood. The extend of the impairments seem to decrease with age. Lifetime Phe concentrations did not correlate with the three subdomains, for the concurrent Phe concentrations only a correlation was found with working memory in adult patients. Elevated blood Phe concentrations above the age of 12 years are still harmful in the development of executive functioning, although the impact is less than during childhood. Lifetime Phe and concurrent Phe concentrations are not the best predictors for executive functioning.

Item Type:	Thesis (Thesis)
Supervisor name:	Spronsen, Prof. dr. F.J. van
Faculty:	Medical Sciences
Date Deposited:	25 Jun 2020 10:44
Last Modified:	25 Jun 2020 10:44
URI:	https://umcg.studenttheses.ub.rug.nl/id/eprint/580

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