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Executive Functioning of 4 Children With Hyperphenylalaninemia From Childhood to Adolescence
Journal article   Peer reviewed

Executive Functioning of 4 Children With Hyperphenylalaninemia From Childhood to Adolescence

Rachael Sharman, Karen A Sullivan, Toni Jones, Ross Young and Jim McGill
Pediatrics, Vol.135(4), pp.e1072-e1074
2015
url
https://doi.org/10.1542/peds.2013-4200View
Published Version

Abstract

cognitive executive function hyperphenylalaninemia neuropsychology phenylalanine
Hyperphenylalaninemia is a variant of phenylketonuria, and debate remains as to what, if any, active management of this condition is required to preserve cognitive function and psychological well-being. This study is the first to examine longitudinally the executive function (EF) in adolescents with hyperphenylalaninemia. Two sibling pairs with mild hyperphenylalaninemia underwent neuropsychological examination in early childhood and again in adolescence using EF tests that were highly sensitive to phenylalanine exposure. By early adolescence, none of the 4 children demonstrated EF impairment. The children demonstrated a typical developmental trajectory of EF from childhood to adolescence, given phenylalanine exposure consistent with their condition.

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Pediatrics

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