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Care management in a French cohort with down syndrome from the AnDDI-Rares/CNSA study

dc.rights.licenseopenen_US
dc.contributor.authorROUX-LEVY, Pierre-Henri
dc.contributor.authorSANLAVILLE, Damien
dc.contributor.authorDE FREMINVILLE, Benedicte
dc.contributor.authorTOURAINE, Renaud
dc.contributor.authorMASUREL, Alice
dc.contributor.authorGUENEAU, Isabelle
dc.contributor.authorCOTINAUD-RICOU, Audrey
dc.contributor.authorCHANCENOTTE, Sophie
dc.contributor.authorDEBOMY, Frederique
dc.contributor.authorMINOT, Delphine
dc.contributor.authorBOURNEZ, Marie
dc.contributor.authorROUSSEAU, Isabelle
dc.contributor.authorDANIEL, Sandrine
dc.contributor.authorGAUTIER, Elodie
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorLACOMBE, Didier
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorTAUPIAC, Emmanuelle
dc.contributor.authorODENT, Sylvie
dc.contributor.authorMIKATY, Myriam
dc.contributor.authorMANOUVRIER, Sylvie
dc.contributor.authorGHOUMID, Jamal
dc.contributor.authorGENEVIEVE, David
dc.contributor.authorLEHMAN, Natacha
dc.contributor.authorBUSA, Tiffany
dc.contributor.authorEDERY, Charles-Patrick
dc.contributor.authorCORNATON, Jenny
dc.contributor.authorGALLARD, Jennifer
dc.contributor.authorHERON, Delphine
dc.contributor.authorRASTEL, Coralie
dc.contributor.authorTHAUVIN-ROBINET, Christel
dc.contributor.authorVERLOES, Alain
dc.contributor.authorBINQUET, Christine
dc.contributor.authorFAIVRE, Laurence
dc.contributor.authorLEJEUNE, Catherine
dc.date.accessioned2021-10-26T09:09:59Z
dc.date.available2021-10-26T09:09:59Z
dc.date.issued2021-10
dc.identifier.issn1769-7212en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/112874
dc.description.abstractEnDown syndrome (DS) is a genetic neurodevelopmental disorder. In individuals with DS, a multidisciplinary approach to care is required to prevent multiple medical complications. The aim of this study was to describe the rehabilitation, medical care, and educational and social support provided to school-aged French DS patients with varying neuropsychological profiles. A mixed study was conducted. Quantitative data were obtained from a French multicentre study that included patients aged 4-20 years with diverse genetic syndromes. Qualitative data were collected by semi-structured face-to-face interviews and focus groups. Ninety-five DS subjects with a mean age of 10.9 years were included. Sixty-six per cent had a moderate intellectual disability (ID) and 18.9% had a severe ID. Medical supervision was generally multidisciplinary but access to medical specialists was often difficult. In terms of education, 94% of children under the age of six were in typical classes. After the age of 15, 75% were in medico-social institutions. Analysis of multidisciplinary rehabilitation conducted in the public and private sectors revealed failure to access physiotherapy, psychomotor therapy and occupational therapy, but not speech therapy. The main barrier encountered by patients was the difficulty accessing appropriate facilities due to a lack of space and long waiting lists. In conclusion, children and adolescents with DS generally received appropriate care. Though the management of children with DS has been improved considerably, access to health facilities remains inadequate.
dc.language.isoENen_US
dc.subject.enDown syndrome
dc.subject.enEducational support
dc.subject.enIntellectual deficiency
dc.subject.enMultidisciplinary care
dc.subject.enSocial support
dc.title.enCare management in a French cohort with down syndrome from the AnDDI-Rares/CNSA study
dc.typeArticle de revueen_US
dc.identifier.doi10.1016/j.ejmg.2021.104290en_US
dc.subject.halSciences du Vivant [q-bio]/Médecine humaine et pathologieen_US
dc.identifier.pubmed34274527en_US
bordeaux.journalEuropean Journal of Medical Geneticsen_US
bordeaux.volume64en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue10en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.identifierhal-03403503
hal.version1
hal.date.transferred2021-10-26T09:10:58Z
hal.exporttrue
dc.rights.ccPas de Licence CCen_US
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