Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders.
Fiche publication
Date publication
avril 2020
Journal
Orphanet journal of rare diseases
Auteurs
Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence
Tous les auteurs :
Smith M, Alexander E, Marcinkute R, Dan D, Rawson M, Banka S, Gavin J, Mina H, Hennessy C, Riccardi F, Radio FC, Havlovicova M, Cassina M, Emandi AC, Fradin M, Gompertz L, Nordgren A, Traberg R, Rossi M, Trimouille A, Sowmyalakshmi R, Dallapiccola B, Renieri A, Faivre L, Kerr B, Verloes A, Clayton-Smith J, Douzgou S,
Lien Pubmed
Résumé
The European Reference Networks, ERNs, are virtual networks for healthcare providers across Europe to collaborate and share expertise on complex or rare diseases and conditions. As part of the ERNs, the Clinical Patient Management System, CPMS, a secure digital platform, was developed to allow and facilitate web-based, clinical consultations between submitting clinicians and relevant international experts. The European Reference Network on Intellectual Disability, TeleHealth and Congenital Anomalies, ERN ITHACA, was formed to harness the clinical and diagnostic expertise in the sector of rare, multiple anomaly and/or intellectual disability syndromes, chromosome disorders and undiagnosed syndromic disorders. We present the first year results of CPMS use by ERN ITHACA as an example of a telemedicine strategy for the diagnosis and management of patients with rare developmental disorders.
Mots clés
Developmental disorders, European reference network, Rare disease, Telemedicine
Référence
Orphanet J Rare Dis. 2020 Apr 25;15(1):103