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The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience.

dc.rights.licenseopenen_US
dc.contributor.authorDOUZGOU, Sofia
dc.contributor.authorDELL'ORO, Janet
dc.contributor.authorFONSECA, Cristina Rodriguez
dc.contributor.authorREI, Alessandra
dc.contributor.authorMULLINS, Jo
dc.contributor.authorJUSIEWICZ, Isabelle
dc.contributor.authorHUISMAN, Sylvia
dc.contributor.authorSIMPSON, Brittany N
dc.contributor.authorVYSHKA, Klea
dc.contributor.authorMILANI, Donatella
dc.contributor.authorBARTSCH, Oliver
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorLACOMBE, Didier
dc.contributor.authorGARCÍA-MIÑAÚR, Sixto
dc.contributor.authorHENNEKAM, Raoul C M
dc.date.accessioned2023-07-05T08:47:41Z
dc.date.available2023-07-05T08:47:41Z
dc.date.issued2022-07-01
dc.identifier.issn1476-5438en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/183302
dc.description.abstractEnThe existing knowledge about morbidity in adults with Rubinstein-Taybi syndrome (RTS) is limited and detailed data on their natural history and response to management are needed for optimal care in later life. We formed an international, multidisciplinary working group that developed an accessible questionnaire including key issues about adults with RTS and disseminated this to all known RTS support groups via social media. We report the observations from a cohort of 87 adult individuals of whom 43 had a molecularly confirmed diagnosis. The adult natural history of RTS is defined by prevalent behavioural/psychiatric problems (83%), gastrointestinal problems (73%) that are represented mainly by constipation; and sleep problems (62%) that manifest in a consistent pattern of sleep apnoea, difficulty staying asleep and an increased need for sleep. Furthermore, over than half of the RTS individuals (65%) had skin and adnexa-related problems. Half of the individuals receive multidisciplinary follow-up and required surgery at least once, and most frequently more than once, during adulthood. Our data confirm that adults with RTS enjoy both social and occupational possibilities, show a variegated experience of everyday life but experience a significant morbidity and ongoing medical issues which do not appear to be as coordinated and multidisciplinary managed as in paediatric patients. We highlight the need for optimal care in a multidisciplinary setting including the pivotal role of specialists for adult care.
dc.language.isoENen_US
dc.subject.enAdult
dc.subject.enChild
dc.subject.enHumans
dc.subject.enRubinstein-Taybi Syndrome
dc.subject.enSurveys and Questionnaires
dc.title.enThe natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience.
dc.title.alternativeEur J Hum Geneten_US
dc.typeArticle de revueen_US
dc.subject.halSciences du Vivant [q-bio]/Génétiqueen_US
dc.identifier.pubmed35388185en_US
bordeaux.journalEuropean Journal of Human Geneticsen_US
bordeaux.page841-847en_US
bordeaux.volume30en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue7en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.import.sourcepubmed
hal.identifierhal-04151944
hal.version1
hal.date.transferred2023-07-05T08:47:50Z
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exporttrue
workflow.import.sourcepubmed
dc.rights.ccCC BYen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=European%20Journal%20of%20Human%20Genetics&rft.date=2022-07-01&rft.volume=30&rft.issue=7&rft.spage=841-847&rft.epage=841-847&rft.eissn=1476-5438&rft.issn=1476-5438&rft.au=DOUZGOU,%20Sofia&DELL'ORO,%20Janet&FONSECA,%20Cristina%20Rodriguez&REI,%20Alessandra&MULLINS,%20Jo&rft.genre=article


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