Associations between cognitive performance ...
Type de document :
Article dans une revue scientifique: Article original
PMID :
URL permanente :
Titre :
Associations between cognitive performance and the rehabilitation, medical care and social support provided to french children with prader-willi syndrome
Auteur(s) :
Roux-Levy, Pierre-Henri [Auteur]
Bournez, Marie [Auteur]
Masurel, Alice [Auteur]
Jean, Nolwenn [Auteur]
Chancenotte, Sophie [Auteur]
Bordes, Mathieu [Auteur]
Debomy, Frederique [Auteur]
Minot, Delphine [Auteur]
Schmitt, Emilie [Auteur]
Vinault, Sandrine [Auteur]
Gautier, Elodie [Auteur]
Lacombe, Didier [Auteur]
Odent, Sylvie [Auteur]
Mikaty, Myriam [Auteur]
Manouvrier, Sylvie [Auteur]
Ghoumid, Jamal [Auteur]
Maladies RAres du DÉveloppement embryonnaire et du Métabolisme : du phénotype au génotype et à la Fonction (RADEME) - ULR 7364
Genevieve, David [Auteur]
Lehman, Natacha [Auteur]
Philip, Nicole [Auteur]
Edery, Patrick [Auteur]
Cornaton, Jenny [Auteur]
Gallard, Jennifer [Auteur]
Heron, Delphine [Auteur]
Rastel, Coralie [Auteur]
Huet, Frederic [Auteur]
Thauvin-Robinet, Christel [Auteur]
Verloes, Alain [Auteur]
Binquet, Christine [Auteur]
Tauber, Maite [Auteur]
Lejeune, Catherine [Auteur]
Faivre, Laurence [Auteur]
Bournez, Marie [Auteur]
Masurel, Alice [Auteur]
Jean, Nolwenn [Auteur]
Chancenotte, Sophie [Auteur]
Bordes, Mathieu [Auteur]
Debomy, Frederique [Auteur]
Minot, Delphine [Auteur]
Schmitt, Emilie [Auteur]
Vinault, Sandrine [Auteur]
Gautier, Elodie [Auteur]
Lacombe, Didier [Auteur]
Odent, Sylvie [Auteur]
Mikaty, Myriam [Auteur]
Manouvrier, Sylvie [Auteur]
Ghoumid, Jamal [Auteur]
Maladies RAres du DÉveloppement embryonnaire et du Métabolisme : du phénotype au génotype et à la Fonction (RADEME) - ULR 7364
Genevieve, David [Auteur]
Lehman, Natacha [Auteur]
Philip, Nicole [Auteur]
Edery, Patrick [Auteur]
Cornaton, Jenny [Auteur]
Gallard, Jennifer [Auteur]
Heron, Delphine [Auteur]
Rastel, Coralie [Auteur]
Huet, Frederic [Auteur]
Thauvin-Robinet, Christel [Auteur]
Verloes, Alain [Auteur]
Binquet, Christine [Auteur]
Tauber, Maite [Auteur]
Lejeune, Catherine [Auteur]
Faivre, Laurence [Auteur]
Titre de la revue :
European journal of medical genetics
Nom court de la revue :
Eur J Med Genet
Pagination :
104064
Date de publication :
2020-09-27
ISSN :
1878-0849
Mot(s)-clé(s) :
Prader-Willi syndrome
Patient care management
Social support
Intellectual disability
Patient care management
Social support
Intellectual disability
Discipline(s) HAL :
Sciences du Vivant [q-bio]
Résumé en anglais : [en]
Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder with a characteristic behavioural phenotype. A multidisciplinary approach to care is required to prevent multiple medical complications in individuals ...
Lire la suite >Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder with a characteristic behavioural phenotype. A multidisciplinary approach to care is required to prevent multiple medical complications in individuals affected by PWS. The aim of this study was to describe the rehabilitation, medical care, educational and social support provided to school-aged French PWS patients with varying neuropsychological profiles. Data were obtained from a French multicentre study that included patients aged 4-20 years with diverse genetic syndromes. Nineteen PWS subjects with a mean age of 9.2 years were included. The mean full-scale intellectual quotient (IQ) was 58 (Wechsler scale). There were frequent dissociations between verbal and performance IQ that were not associated with a specific profile. We also observed lower autonomy and communication scores (5.3 years and 5.9 years equivalent, respectively, Vineland scale), the absence of hyperactivity (Conners scale), and the presence of behavioural abnormalities (CBCL scale). Multidisciplinary medical supervision was generally coordinated by the paediatric endocrinologist and did not always include follow-up with all of the recommended specialists, in particular with a paediatric psychiatrist. Analysis of multidisciplinary rehabilitation conducted in public and private-sector establishment revealed failings in psychological support, occupational therapy and dietary follow-up. Regarding education, most children younger than 10 years were in normal schools, while older individuals were often cared for in medico-social institutions. In conclusion, children and adolescents with PWS generally received appropriate care. Though there have been considerable improvements in the management of children with PWS, reference centres should continue reinforcing the coordination of multidisciplinary supervision.Lire moins >
Lire la suite >Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder with a characteristic behavioural phenotype. A multidisciplinary approach to care is required to prevent multiple medical complications in individuals affected by PWS. The aim of this study was to describe the rehabilitation, medical care, educational and social support provided to school-aged French PWS patients with varying neuropsychological profiles. Data were obtained from a French multicentre study that included patients aged 4-20 years with diverse genetic syndromes. Nineteen PWS subjects with a mean age of 9.2 years were included. The mean full-scale intellectual quotient (IQ) was 58 (Wechsler scale). There were frequent dissociations between verbal and performance IQ that were not associated with a specific profile. We also observed lower autonomy and communication scores (5.3 years and 5.9 years equivalent, respectively, Vineland scale), the absence of hyperactivity (Conners scale), and the presence of behavioural abnormalities (CBCL scale). Multidisciplinary medical supervision was generally coordinated by the paediatric endocrinologist and did not always include follow-up with all of the recommended specialists, in particular with a paediatric psychiatrist. Analysis of multidisciplinary rehabilitation conducted in public and private-sector establishment revealed failings in psychological support, occupational therapy and dietary follow-up. Regarding education, most children younger than 10 years were in normal schools, while older individuals were often cared for in medico-social institutions. In conclusion, children and adolescents with PWS generally received appropriate care. Though there have been considerable improvements in the management of children with PWS, reference centres should continue reinforcing the coordination of multidisciplinary supervision.Lire moins >
Langue :
Anglais
Audience :
Internationale
Vulgarisation :
Non
Établissement(s) :
Université de Lille
Collections :
Date de dépôt :
2021-09-02T07:02:39Z