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Neuropsychological profile of French adults with early-treated phenylketonuria: a multicenter study

dc.rights.licenseopenen_US
hal.structure.identifierCentre Hospitalier Régional Universitaire de Tours [CHRU Tours]
hal.structure.identifierCentre Mémoire de Ressources et de Recherche [CHRU de Tours] [CMRR Tours]
dc.contributor.authorBRACHET, Maxime
hal.structure.identifierHôpital Louis Pradel [CHU - HCL]
hal.structure.identifierHospices Civils de Lyon [HCL]
hal.structure.identifierCardiovasculaire, métabolisme, diabétologie et nutrition [CarMeN]
dc.contributor.authorCHARRIÈRE, Sybil
hal.structure.identifierCentre Hospitalier Régional Universitaire [CHU Lille] [CHRU Lille]
dc.contributor.authorDOUILLARD, Claire
hal.structure.identifierCentre Hospitalier Universitaire de Nancy [CHU Nancy]
hal.structure.identifierNutrition-Génétique et Exposition aux Risques Environnementaux [NGERE]
dc.contributor.authorFEILLET, François
hal.structure.identifierHospices Civils de Lyon [HCL]
dc.contributor.authorFOUILHOUX, Alain
hal.structure.identifierCentre Hospitalier Universitaire de Toulouse [CHU Toulouse]
dc.contributor.authorASTUDILLO, Léonardo
hal.structure.identifierCentre Hospitalier Universitaire d'Angers [CHU Angers]
dc.contributor.authorLAVIGNE, Christian
hal.structure.identifierHôpital Necker - Enfants Malades [AP-HP]
dc.contributor.authorARNOUX, Jean-Baptiste
hal.structure.identifierInstitut de Génétique et Développement de Rennes [IGDR]
hal.structure.identifierCentre Hospitalier Universitaire de Rennes [CHU Rennes] = Rennes University Hospital [Pontchaillou]
dc.contributor.authorODENT, Sylvie
dc.contributor.authorGAY, Claire
hal.structure.identifierImagine - Institut des maladies génétiques (IHU) [Imagine - U1163]
dc.contributor.authorSCHIFF, Manuel
hal.structure.identifierHôpital de la Conception [CHU - APHM] [LA CONCEPTION]
dc.contributor.authorMAZODIER, Karin
hal.structure.identifierCentre Hospitalier Universitaire de Nantes = Nantes University Hospital [CHU Nantes]
hal.structure.identifierPhysiopathologie des Adaptations Nutritionnelles [PhAN]
dc.contributor.authorKUSTER, Alice
hal.structure.identifierCHU de Bordeaux Pellegrin [Bordeaux]
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorRIGALLEAU, Vincent
IDREF: 069788146
hal.structure.identifierLipides - Nutrition - Cancer [Dijon - U1231] [LNC]
dc.contributor.authorTHAUVIN-ROBINET, Christel
hal.structure.identifierCentre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand [CHU Dijon]
dc.contributor.authorLEGUY-SEGUIN, Vanessa
hal.structure.identifierCentre d’Investigation Clinique [Tours] CIC 1415 [CIC]
dc.contributor.authorGISSOT, Valérie
hal.structure.identifierImaging, Brain & Neuropsychiatry [iBraiN]
dc.contributor.authorMAILLOT, Francois
dc.date.accessioned2025-01-28T10:03:00Z
dc.date.available2025-01-28T10:03:00Z
dc.date.issued2024-12-12
dc.identifier.issn0340-5354en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/204617
dc.description.abstractEnBackground and objective: Adult patients with early-treated phenylketonuria (AwET-PKU) may present some subtle neurocognitive deficits. The aim of the study was to investigate 1) neurocognitive functions in a large group of AwET-PKU 2) the influence of plasma phenylalanine (Phe).Methods: Participants: 187 AwET-PKU (classic PKU [cPKU] 81%, mild PKU [mPKU] 14%, and mild persistent hyperphenylalaninemia [MPH] 5%). Cognitive assessments: tests included the Wechsler Adult Intelligence Scale-IV, California Verbal Learning Test-II, Trail Making Test, and verbal fluency tests. Biochemical data: plasma Phe was measured concurrently with cognitive assessments.Results: Episodic memory: cPKU patients had lower performance in immediate recall compared to mPKU patients. There was a negative correlation between Phe levels and immediate recall indices, but no correlation with delayed memory. Processing speed: cPKU patients performed worse than mPKU patients in processing speed tests. Negative correlations were observed between Phe levels and processing speed measures, with more pronounced effects in cPKU patients. Executive functioning: No differences were found between cPKU and mPKU patients on executive functioning tests. No correlation was found between executive function and Phe levels. Working memory: cPKU patients had poorer working memory performance compared to mPKU patients, though no correlation was found between working memory performance and Phe levels.Conclusions: The study reveals neurocognitive deficits in adults with PKU, particularly in episodic memory and processing speed. Higher plasma Phe levels are associated with poorer performance in these areas, especially in cPKU patients. Working memory and executive functioning did not show significant correlations with Phe levels.
dc.language.isoENen_US
dc.subject.enAdults
dc.subject.enEpisodic memory
dc.subject.enExecutive functioning
dc.subject.enPhenylketonuria
dc.subject.enSpeed processing
dc.subject.enWorking memory
dc.title.enNeuropsychological profile of French adults with early-treated phenylketonuria: a multicenter study
dc.typeArticle de revueen_US
dc.identifier.doi10.1007/s00415-024-12840-0en_US
dc.subject.halSciences du Vivant [q-bio]en_US
bordeaux.journalJournal of Neurologyen_US
bordeaux.page53en_US
bordeaux.volume272en_US
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - UMR 1219en_US
bordeaux.issue1en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.teamLEHA_BPHen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.import.sourcehal
hal.identifierhal-04870058
hal.version1
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exportfalse
workflow.import.sourcehal
dc.rights.ccPas de Licence CCen_US
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