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

被引：18

作者：

Canton, Marie ^{[1
,2
,3
]}

Le Gall, Didier ^{[2
,4
]}

Feillet, Francois ^{[1
]}

Bonnemains, Chrystele ^{[1
]}

Roy, Arnaud ^{[2
,5
,6
]}

机构：

[1] Nancy Univ Childrens Hosp, Reference Ctr Inborn Errors Metab, INSERM U954, F-54000 Nancy, France

[2] Univ Angers, Lab Psychol, EA4638, UBL, F-49000 Angers, France

[3] Nancy Univ Childrens Hosp, Reference Ctr Learning Disabil, Pediat Neurol Dept, F-54000 Nancy, France

[4] Angers Univ Hosp, Dept Neurol, Neuropsychol Unit, F-49000 Angers, France

[5] Nantes Univ Hosp, Neurofibromatosis Clin, F-44000 Nantes, France

[6] Nantes Univ Hosp, Reference Ctr Learning Disabil, F-44000 Nantes, France

来源：

JOURNAL OF THE INTERNATIONAL NEUROPSYCHOLOGICAL SOCIETY | 2019年 / 25卷 / 06期

关键词：

Phenylketonuria; children; neuropsychological profile; executive function; review; NEUTRAL AMINO-ACIDS; DEFICIT HYPERACTIVITY DISORDER; EXECUTIVE FUNCTION IMPAIRMENT; BLOOD PHENYLALANINE LEVELS; COGNITIVE FUNCTIONS; TETRAHYDROBIOPTERIN BH4; SUSTAINED ATTENTION; PREFRONTAL DYSFUNCTION; SCHOOL-ACHIEVEMENT; INHIBITORY CONTROL;

D O I：

10.1017/S1355617719000146

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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)

引用

页码：624 / 643

页数：20

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