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Episodic memory and speed of processing: Influence of plasma phenylalanine concentration in adults with early-treated phenylketonuria

dc.rights.licenseopenen_US
dc.contributor.authorBRACHET, Maxime
dc.contributor.authorCHARRIERE, Sybil
dc.contributor.authorMAILLOT, Francois
dc.contributor.authorFEILLET, Francois
dc.contributor.authorFOUILHOUX, Alain
dc.contributor.authorASTUDILLO, Leonardo
dc.contributor.authorLAVIGNE, Christian
dc.contributor.authorARNOUX, Jean Baptiste
dc.contributor.authorODENT, Sylvie
dc.contributor.authorGAY, Claire
dc.contributor.authorSCHIFF, Manuel
dc.contributor.authorMAZODIER, Karin
dc.contributor.authorKUSTER, Alice
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorRIGALLEAU, Vincent
IDREF: 069788146
dc.contributor.authorSEGUIN, Vanessa Leguy
dc.contributor.authorDOUILLARD, Claire
dc.date.accessioned2024-10-18T09:51:25Z
dc.date.available2024-10-18T09:51:25Z
dc.date.issued2024-04-01
dc.date.conference2024-04-14
dc.identifier.issn1096-7192en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/202579
dc.description.abstractEnBackground A suboptimal neurocognitive outcome has been identified in adults with early-treated PKU(ET-PKU). Episodic memory (EM) and speed of processing has been shown to be abnormal but most published studies have included small numbers of heterogenous patients. Moreover, the influence of plasma phenylalanine (Phe) on such neurocognitive functions remains uncertain. The aim of the present study was to evaluate EM and Processing Speed Index (PSI) in a large group of adult patients with ET-PKU. Methods Patients >18y, with a diagnosis of PKU from the French newborn screening program, were included from 17 centers in a national 5-y prospective cohort study (ECOPHEN). EM was assessed using the California Verbal Learning Test – 2nd Edition (CVLT-II). The speed of information processing was measured using PSI from the Wechsler Adult Intelligence Scale-Fourth Edition (WAIS-IV) and the Trail Making Test A (TMT-A). Fasting plasma Phe was concurrently measured. Data from baseline visit are presented as medians [interquartiles]. Correlations and comparisons used Pearson and t-test respectively. Results 187 adult patients with PKU were included in the study. Within the participants, 152 were classified with classic PKU (cPKU), 26 with mild PKU (mPKU) and 9 with mild hyperphenylalaninemia (mHPA). Median age was 27.2y [22.3; 32.3]. Regarding EM, cPKU patients have significantly reduced performance for immediate recall indices as compared to mPKU. No difference was observed for delayed recall indices and memory recall accuracy indices. Some significant negative correlations were identified between plasma Phe and some EM indices. After the categorical indication, which facilitates recall, the significance dissipated. After a delay, no significant correlation between long term recall performance and plasma Phe was observed. For the whole cohort, median PSI was 89 [78; 100]. A significant negative correlation between plasma Phe and PSI was identified at −0,34 [−0,46; −0,20]. PSI in patients with plasma Phe > 600 μmol was lower as compared to patients with plasma Phe < 600 μmol/L (88 ± 16 vs 97 ± 17, p = 0,006). Conclusions The present study suggests, from a large cohort, that EM is slightly influenced by plasma Phe levels in adults with ET-PKU. Our data indicates a lower immediate recall performance in patients with cPKU and significant negative correlations with plasma Phe. This result suggests a difficulty in learning information or a fragility of information encoding. When the patients are re-questioned on the learning carried out after a delay, there is no longer any significant difference according to the PKU groups and no correlations with plasma Phe. Thus, the phenomenon of memory consolidation which takes place in the interval between the encoding of information in episodic memory and its delayed retrieval appears efficient in ET-PKU patients. Regarding speed of processing, our study confirms that PSI is decreased in ET-PKU patients. Moreover, our data suggest that concurrent Phe has a negative influence on PSI. Considering the upper level of the European guidelines (600 umol/L), patients with plasma Phe > 600 μmol/L have a significant abnormality in speed of processing. This results, is in favor of an optimization of metabolic control in adults with ET-PKU.
dc.language.isoENen_US
dc.title.enEpisodic memory and speed of processing: Influence of plasma phenylalanine concentration in adults with early-treated phenylketonuria
dc.typeCommunication dans un congrèsen_US
dc.identifier.doi10.1016/j.ymgme.2024.108307en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
bordeaux.page108307en_US
bordeaux.volume141en_US
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - UMR 1219en_US
bordeaux.issue4en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.conference.title45th Annual Meeting of the Society for Inherited Metabolic Disorders (SIMD)en_US
bordeaux.countryusen_US
bordeaux.title.proceedingMolecular Genetics and Metabolismen_US
bordeaux.teamLEHA_BPHen_US
bordeaux.conference.cityCharlotteen_US
hal.identifierhal-04743364
hal.version1
hal.date.transferred2024-10-18T09:51:27Z
hal.proceedingsouien_US
hal.conference.organizerthe Society for Inherited-Metabolic Disorders (SIMD)en_US
hal.conference.end2024-04-17
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exporttrue
dc.rights.ccPas de Licence CCen_US
bordeaux.COinSctx_ver=Z39.88-2004&amp;rft_val_fmt=info:ofi/fmt:kev:mtx:journal&amp;rft.date=2024-04-01&amp;rft.volume=141&amp;rft.issue=4&amp;rft.spage=108307&amp;rft.epage=108307&amp;rft.eissn=1096-7192&amp;rft.issn=1096-7192&amp;rft.au=BRACHET,%20Maxime&amp;CHARRIERE,%20Sybil&amp;MAILLOT,%20Francois&amp;FEILLET,%20Francois&amp;FOUILHOUX,%20Alain&amp;rft.genre=unknown


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