Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders.

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

https://www.ncbi.nlm.nih.gov/pubmed/32334637

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