Diffusivity alterations related to cognitive performance and phenylalanine levels in early-treated adults with phenylketonuria / Jèssica PARDO in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Diffusivity alterations related to cognitive performance and phenylalanine levels in early-treated adults with phenylketonuria Type de document : texte imprimé Auteurs : Jèssica PARDO, Auteur ; Clara CAPDEVILA-LACASA, Auteur ; Bàrbara SEGURA, Auteur ; Adriana PANÉ, Auteur ; Pedro J. MORENO, Auteur ; Glòria GARRABOU, Auteur ; Josep M. GRAU-JUNYENT, Auteur ; Carme JUNQUÉ, Auteur Langues : Anglais (eng) Mots-clés : Humans  Phenylketonurias/blood/diagnostic imaging/psychology/diet  therapy/pathology/complications  Phenylalanine/blood  Adult  Male  Female  Diffusion Tensor Imaging  White Matter/diagnostic imaging/pathology  Cognition/physiology  Young Adult  Brain/diagnostic imaging  Neuropsychological Tests  Cerebral white matter  Dietary control  Neuropsychological performance  Phenylketonuria  by the Bioethics Committee of the University of Barcelona (IRB00003099) and  Hospital Clínic of Barcelona (HCB/2020/0552) and was conducted in accordance with  the basic principles of the Declaration of Helsinki. This study was conducted  following the ethical standards of the responsible committee on human  experimentation (institutional and national) and with the Helsinki Declaration of  1975, as revised in 2000. All the participants of this study provided signed  written informed consent, after a complete explanation of the procedures  involved, and are available from the corresponding author upon reasonable  request. Consent for publication: Not applicable. Competing interests: The  authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Altered white matter (WM) is consistently reported in patients with phenylketonuria (PKU). However, the knowledge about WM microstructural integrity in early-treated adults with classical PKU and its relationship with cognition and metabolic parameters is inconclusive. This study aims to explore the cerebral WM microstructural alterations in adult patients with early-treated classical PKU and their association with blood phenylalanine (Phe) levels and neuropsychological performance using whole-brain diffusion tensor imaging (DTI). METHODS: Twenty-nine patients with early-treated classical PKU (mean age = 30.86, SD = 7.74) and 31 healthy controls (mean age = 32.45, SD = 9.40) underwent neuropsychological assessment and MRI. Phe dry blood spot (DBS-Phe) samples, along with venous Phe levels, were collected from the PKU sample to calculate the index of dietary control (IDC). Tract-based spatial statistics (TBSS) of the mean diffusivity (MD), and fractional anisotropy (FA), were carried out with FSL v6.0.4 to assess between-group differences and to explore associations with both cognitive and clinical data. RESULTS: Patients exhibited a widespread white matter tract involvement, with lower MD and higher FA values compared to controls. The most affected tracts were the inferior longitudinal fasciculus and inferior fronto-occipital fasciculus for MD, and the anterior corona radiata, uncinate fasciculus and forceps minor for FA. MD negatively correlated with IDC and venous Phe levels, whereas FA negatively correlated with full-scale intelligence quotient (FSIQ) (p-value ≤0.05 FWE-corrected). CONCLUSIONS: Microstructural WM alterations were present in adults with early-treated classical PKU, and these abnormalities were related to global intelligence and metabolic control markers. Although our results suggest the importance of proper disease management, further studies are needed to determine its long-term relevance. En ligne : https://dx.doi.org/10.1186/s11689-025-09622-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Diffusivity alterations related to cognitive performance and phenylalanine levels in early-treated adults with phenylketonuria [texte imprimé] / Jèssica PARDO, Auteur ; Clara CAPDEVILA-LACASA, Auteur ; Bàrbara SEGURA, Auteur ; Adriana PANÉ, Auteur ; Pedro J. MORENO, Auteur ; Glòria GARRABOU, Auteur ; Josep M. GRAU-JUNYENT, Auteur ; Carme JUNQUÉ, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Humans  Phenylketonurias/blood/diagnostic imaging/psychology/diet  therapy/pathology/complications  Phenylalanine/blood  Adult  Male  Female  Diffusion Tensor Imaging  White Matter/diagnostic imaging/pathology  Cognition/physiology  Young Adult  Brain/diagnostic imaging  Neuropsychological Tests  Cerebral white matter  Dietary control  Neuropsychological performance  Phenylketonuria  by the Bioethics Committee of the University of Barcelona (IRB00003099) and  Hospital Clínic of Barcelona (HCB/2020/0552) and was conducted in accordance with  the basic principles of the Declaration of Helsinki. This study was conducted  following the ethical standards of the responsible committee on human  experimentation (institutional and national) and with the Helsinki Declaration of  1975, as revised in 2000. All the participants of this study provided signed  written informed consent, after a complete explanation of the procedures  involved, and are available from the corresponding author upon reasonable  request. Consent for publication: Not applicable. Competing interests: The  authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Altered white matter (WM) is consistently reported in patients with phenylketonuria (PKU). However, the knowledge about WM microstructural integrity in early-treated adults with classical PKU and its relationship with cognition and metabolic parameters is inconclusive. This study aims to explore the cerebral WM microstructural alterations in adult patients with early-treated classical PKU and their association with blood phenylalanine (Phe) levels and neuropsychological performance using whole-brain diffusion tensor imaging (DTI). METHODS: Twenty-nine patients with early-treated classical PKU (mean age = 30.86, SD = 7.74) and 31 healthy controls (mean age = 32.45, SD = 9.40) underwent neuropsychological assessment and MRI. Phe dry blood spot (DBS-Phe) samples, along with venous Phe levels, were collected from the PKU sample to calculate the index of dietary control (IDC). Tract-based spatial statistics (TBSS) of the mean diffusivity (MD), and fractional anisotropy (FA), were carried out with FSL v6.0.4 to assess between-group differences and to explore associations with both cognitive and clinical data. RESULTS: Patients exhibited a widespread white matter tract involvement, with lower MD and higher FA values compared to controls. The most affected tracts were the inferior longitudinal fasciculus and inferior fronto-occipital fasciculus for MD, and the anterior corona radiata, uncinate fasciculus and forceps minor for FA. MD negatively correlated with IDC and venous Phe levels, whereas FA negatively correlated with full-scale intelligence quotient (FSIQ) (p-value ≤0.05 FWE-corrected). CONCLUSIONS: Microstructural WM alterations were present in adults with early-treated classical PKU, and these abnormalities were related to global intelligence and metabolic control markers. Although our results suggest the importance of proper disease management, further studies are needed to determine its long-term relevance. En ligne : https://dx.doi.org/10.1186/s11689-025-09622-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Volumetric brain reductions in adult patients with phenylketonuria and their relationship with blood phenylalanine levels / Jèssica PARDO in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Volumetric brain reductions in adult patients with phenylketonuria and their relationship with blood phenylalanine levels Type de document : texte imprimé Auteurs : Jèssica PARDO, Auteur ; Clara CAPDEVILA-LACASA, Auteur ; Bàrbara SEGURA, Auteur ; Adriana PANÉ, Auteur ; Cristina MONTSERRAT, Auteur ; Maria DE TALLÓ FORGA-VISA, Auteur ; Pedro J. MORENO, Auteur ; Glòria GARRABOU, Auteur ; Josep M. GRAU-JUNYENT, Auteur ; Carme JUNQUÉ, Auteur Langues : Anglais (eng) Mots-clés : Humans  Phenylketonurias/blood/pathology/diagnostic imaging  Phenylalanine/blood  Male  Female  Adult  Magnetic Resonance Imaging  Brain/diagnostic imaging/pathology  Young Adult  Neuropsychological Tests  Adult early-treated patients  Blood phenylalanine levels  Neuroimaging  Neuropsychological assessment  Phenylketonuria  Volumetry Index. décimale : PER Périodiques Résumé : BACKGROUND: Continued dietary treatment since early diagnosis through newborn screening programs usually prevents brain-related complications in phenylketonuria (PKU). However, subtle neurocognitive and brain alterations may be observed in some adult patients despite early treatment. Nevertheless, neuropsychological and neuroimaging studies in the field remain scarce. OBJECTIVES: This work aimed to determine possible neuropsychological and structural brain alterations in treated adult patients with PKU. METHODS: Thirty-five patients with PKU and 22 healthy controls (HC) underwent neuropsychological assessment and T1-weighted magnetic resonance imaging on a 3 T scanner. FreeSurfer (v.7.1) was used to obtain volumetric measures and SPSS (v27.0.1.0) was used to analyze sociodemographic, neuropsychological, volumetric, and clinical data (p < 0.05). RESULTS: Adult patients with PKU showed significantly lower performance than HC in Full Scale IQ (t = 2.67; p = .010) from the WAIS-IV. The PKU group also showed significantly lower volumes than HC in the pallidum (U = 224.000; p = .008), hippocampus (U = 243.000; p = .020), amygdala (U = 200.000; p = .002), and brainstem (t = 3.17; p = .006) as well as in total cerebral white matter volume (U = 175.000; p = .001). Blood phenylalanine (Phe) levels in PKU patients were negatively correlated with the pallidum (r = -0.417; p = .013) and brainstem (r = -0.455, p = .006) volumes. CONCLUSIONS: Adult patients with early-treated PKU showed significantly lower global intelligence than HC. Moreover, these patients showed reduced global white matter volume as well as reductions in the volume of several subcortical grey matter structures, which might be related to the existence of underlying neurodevelopmental alterations. Higher blood Phe levels were also negatively correlated with pallidum and brainstem, suggesting a higher vulnerability of these structures to Phe toxicity. En ligne : https://dx.doi.org/10.1186/s11689-024-09553-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Volumetric brain reductions in adult patients with phenylketonuria and their relationship with blood phenylalanine levels [texte imprimé] / Jèssica PARDO, Auteur ; Clara CAPDEVILA-LACASA, Auteur ; Bàrbara SEGURA, Auteur ; Adriana PANÉ, Auteur ; Cristina MONTSERRAT, Auteur ; Maria DE TALLÓ FORGA-VISA, Auteur ; Pedro J. MORENO, Auteur ; Glòria GARRABOU, Auteur ; Josep M. GRAU-JUNYENT, Auteur ; Carme JUNQUÉ, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Phenylketonurias/blood/pathology/diagnostic imaging  Phenylalanine/blood  Male  Female  Adult  Magnetic Resonance Imaging  Brain/diagnostic imaging/pathology  Young Adult  Neuropsychological Tests  Adult early-treated patients  Blood phenylalanine levels  Neuroimaging  Neuropsychological assessment  Phenylketonuria  Volumetry Index. décimale : PER Périodiques Résumé : BACKGROUND: Continued dietary treatment since early diagnosis through newborn screening programs usually prevents brain-related complications in phenylketonuria (PKU). However, subtle neurocognitive and brain alterations may be observed in some adult patients despite early treatment. Nevertheless, neuropsychological and neuroimaging studies in the field remain scarce. OBJECTIVES: This work aimed to determine possible neuropsychological and structural brain alterations in treated adult patients with PKU. METHODS: Thirty-five patients with PKU and 22 healthy controls (HC) underwent neuropsychological assessment and T1-weighted magnetic resonance imaging on a 3 T scanner. FreeSurfer (v.7.1) was used to obtain volumetric measures and SPSS (v27.0.1.0) was used to analyze sociodemographic, neuropsychological, volumetric, and clinical data (p < 0.05). RESULTS: Adult patients with PKU showed significantly lower performance than HC in Full Scale IQ (t = 2.67; p = .010) from the WAIS-IV. The PKU group also showed significantly lower volumes than HC in the pallidum (U = 224.000; p = .008), hippocampus (U = 243.000; p = .020), amygdala (U = 200.000; p = .002), and brainstem (t = 3.17; p = .006) as well as in total cerebral white matter volume (U = 175.000; p = .001). Blood phenylalanine (Phe) levels in PKU patients were negatively correlated with the pallidum (r = -0.417; p = .013) and brainstem (r = -0.455, p = .006) volumes. CONCLUSIONS: Adult patients with early-treated PKU showed significantly lower global intelligence than HC. Moreover, these patients showed reduced global white matter volume as well as reductions in the volume of several subcortical grey matter structures, which might be related to the existence of underlying neurodevelopmental alterations. Higher blood Phe levels were also negatively correlated with pallidum and brainstem, suggesting a higher vulnerability of these structures to Phe toxicity. En ligne : https://dx.doi.org/10.1186/s11689-024-09553-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

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