Mostrar el registro sencillo del ítem

Care pathways in childhood neurodevelopmental disorders: Toward greater awareness of KBG syndrome among pediatricians.

dc.rights.licenseopenen_US
dc.contributor.authorADAMO-CROUX, Marie
dc.contributor.authorAUGER-GILLI, Adriane
dc.contributor.authorGUYADER, Gwenaël Le
dc.contributor.authorAUBIN-COURJAULT, Juliette
dc.contributor.authorMARGOT, Henri
dc.contributor.authorBAR, Claire
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU de Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorLACOMBE, Didier
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU de Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorVAN GILS, Julien
dc.contributor.authorLEGENDRE, Marine
dc.contributor.authorBINET, Aurélien
dc.contributor.authorHORN, Xavier Le Guillou
dc.date.accessioned2024-07-18T08:10:01Z
dc.date.available2024-07-18T08:10:01Z
dc.date.issued2024-07-01
dc.identifier.issn1769-664Xen_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/201020
dc.description.abstractEnKBG syndrome is an autosomal dominant, polymalformative genetic syndrome that is mainly associated with neurodevelopmental and learning disorders, intellectual disability, behavioral disorders, and epilepsy as well as characteristic dysmorphic features, short stature, and ENT (ear, nose, and throat) abnormalities. However, the diagnostic pathway of these individuals is an element that has not been broadly evaluated. The main aim of this study was therefore to characterize the diagnostic pathway for these individuals, by assessing the different healthcare professionals involved and the main referral elements. This was a multicenter, retrospective, descriptive study. A cohort of 30 individuals with KBG syndrome who were followed up at Poitiers University Hospital and Bordeaux University Hospital we recruited. Pediatricians were the main healthcare professionals who referred individuals for genetic consultation, and the main reason for referral was an assessment of learning delays or intellectual disability, in association with other abnormalities. Pediatricians play a crucial role in the diagnostic guidance of individuals with KBG syndrome, and the main reason for referral remains the assessment of a learning delay or intellectual disability. Healthcare professionals must therefore remain attentive to the child's development and the various anomalies associated with it, in particular characteristic dysmorphic features, behavioral disorders, and statural growth.
dc.language.isoENen_US
dc.subject.enKBG syndrome
dc.subject.enDiagnostic medical pathway
dc.subject.enNeurodevelopmental disorder
dc.title.enCare pathways in childhood neurodevelopmental disorders: Toward greater awareness of KBG syndrome among pediatricians.
dc.title.alternativeArch Pediatren_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1016/j.arcped.2024.02.007en_US
dc.subject.halSciences du Vivant [q-bio]/Génétiqueen_US
dc.identifier.pubmed38719651en_US
bordeaux.journalArchives de Pédiatrieen_US
bordeaux.page320-325en_US
bordeaux.volume31en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue5en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.import.sourcepubmed
hal.identifierhal-04652243
hal.version1
hal.date.transferred2024-07-18T08:10:04Z
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exporttrue
workflow.import.sourcepubmed
dc.rights.ccPas de Licence CCen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Archives%20de%20P%C3%A9diatrie&rft.date=2024-07-01&rft.volume=31&rft.issue=5&rft.spage=320-325&rft.epage=320-325&rft.eissn=1769-664X&rft.issn=1769-664X&rft.au=ADAMO-CROUX,%20Marie&AUGER-GILLI,%20Adriane&GUYADER,%20Gwena%C3%ABl%20Le&AUBIN-COURJAULT,%20Juliette&MARGOT,%20Henri&rft.genre=article


Archivos en el ítem

ArchivosTamañoFormatoVer

No hay archivos asociados a este ítem.

Este ítem aparece en la(s) siguiente(s) colección(ones)

Mostrar el registro sencillo del ítem