Marie Canton1, Didier Le Gall2, François Feillet1, Chrystele Bonnemains1, Arnaud Roy2. 1. Reference Center for Inborn Errors of Metabolism, INSERM U954,Nancy University Children's Hospital,54000 Nancy,France. 2. Laboratory of Psychology, UBL, EA4638,University of Angers,49000 Angers,France.
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).
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).
Authors: Kimber van Vliet; Willem G van Ginkel; Rianne Jahja; Anne Daly; Anita MacDonald; Saikat Santra; Corinne De Laet; Philippe J Goyens; Roshni Vara; Yusof Rahman; David Cassiman; Francois Eyskens; Corrie Timmer; Nicky Mumford; Paul Gissen; Jörgen Bierau; Peter M van Hasselt; Gisela Wilcox; Andrew A M Morris; Elisabeth A Jameson; Alicia de la Parra; Carolina Arias; Maria I Garcia; Veronica Cornejo; Annet M Bosch; Carla E M Hollak; M Estela Rubio-Gozalbo; Martijn C G J Brouwers; Floris C Hofstede; Maaike C de Vries; Mirian C H Janssen; Ans T van der Ploeg; Janneke G Langendonk; Stephan C J Huijbregts; Francjan J van Spronsen Journal: J Inherit Metab Dis Date: 2022-06-30 Impact factor: 4.750