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Neuropsychological Profile of Children with Early and Continuously Treated Phenylketonuria: Systematic Review and Future Approaches

Published online by Cambridge University Press:  29 April 2019

Marie Canton ,
Didier Le Gall ,
François Feillet ,
Chrystele Bonnemains  and
Arnaud Roy
Marie Canton*
Affiliation:
Reference Center for Inborn Errors of Metabolism, INSERM U954, Nancy University Children’s Hospital, 54000 Nancy, France Laboratory of Psychology, UBL, EA4638, University of Angers, 49000 Angers, France Reference Center for Learning Disabilities, Pediatric Neurology Department, Nancy University Children’s Hospital, 54000 Nancy, France
Didier Le Gall
Affiliation:
Laboratory of Psychology, UBL, EA4638, University of Angers, 49000 Angers, France Neuropsychology unit, Department of Neurology, Angers University Hospital, 49000 Angers, France
François Feillet
Affiliation:
Reference Center for Inborn Errors of Metabolism, INSERM U954, Nancy University Children’s Hospital, 54000 Nancy, France
Chrystele Bonnemains
Affiliation:
Reference Center for Inborn Errors of Metabolism, INSERM U954, Nancy University Children’s Hospital, 54000 Nancy, France
Arnaud Roy
Affiliation:
Laboratory of Psychology, UBL, EA4638, University of Angers, 49000 Angers, France Neurofibromatosis Clinic and Reference Center for Learning Disabilities, Nantes University Hospital, 44000 Nantes, France
*
Correspondence and reprint requests to: Marie Canton, CLAP, Hôpital d’enfants, CHRU Nancy-Brabois, Rue du Morvan, 54511 Vandoeuvre-Les-Nancy, France. E-mail: m.canton@chru-nancy.fr. Phone: + 33 (0) 3 83 15 48 84
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Abstract

Objective: To provide a comprehensive systematic review of the literature by examining studies published on all cognitive aspects of children with early and continuously treated phenylketonuria (ECT-PKU) included in the databases Medline, PsycINFO, and PsycARTICLE. Method: In addition to a classical approach, we summarized methodology and results of each study in order to discuss current theoretical and methodological issues. We also examined recent advances in biochemical markers and treatments of PKU, with implications for future research on metabolic control and its role as a determinant of neuropsychological outcome. Results: Consistent with previous reviews, the hypothesis of a specific and central executive impairment in children with ECT-PKU was suggested. However, findings are inconclusive regarding the nature of executive impairments as well as their specificity, impact on everyday life, persistence over time, and etiology. Conclusion: Given the current state of the science, we suggest future directions for research that utilizes a developmental and integrative approach to examine the effects of recent advances in biochemical markers and treatment of PKU. (JINS, 2019, 25, 624–643)

Keywords

Phenylketonuriachildrenneuropsychological profileexecutive functionreview
Type
Critical Review
Information
Journal of the International Neuropsychological Society , Volume 25 , Issue 6 , July 2019 , pp. 624 - 643
Copyright
Copyright © INS. Published by Cambridge University Press, 2019. 

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