title: Executive functioning of 4 children with hyperphenylalaninemia from childhood to adolescence.
abstract: 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.
authors.affiliation: University of the Sunshine Coast, Sunshine Coast, Queensland, Australia; rsharman@usc.edu.au.
authors.forename: Rachael
authors.initials: R
authors.lastname: Sharman
authors.affiliation: Queensland University of Technology, Brisbane, Queensland, Australia;
authors.forename: Karen A
authors.initials: KA
authors.lastname: Sullivan
authors.affiliation: Great Southern Psychiatric and Psychological Services, Albany, Western Australia; and.
authors.forename: Toni
authors.initials: T
authors.lastname: Jones
authors.affiliation: Queensland University of Technology, Brisbane, Queensland, Australia;
authors.forename: Ross McD
authors.initials: RM
authors.lastname: Young
authors.affiliation: Neurometabolic Department, Lady Cilento Children's Hospital, South Brisbane, Queensland, Australia.
authors.forename: Jim
authors.initials: J
authors.lastname: McGill
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003072:Cognition Disorders / Q000175:diagnosis* / Q000235:genetics; D018753:Diet, Protein-Restricted; D056344:Executive Function; D005260:Female; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D009483:Neuropsychological Tests / Q000706:statistics & numerical data; D010661:Phenylketonurias / Q000175:diagnosis* / Q000178:diet therapy / Q000235:genetics / Q000523:psychology*; D011594:Psychometrics; D012016:Reference Values
keywords: cognitive; executive function; hyperphenylalaninemia; neuropsychology; phenylalanine