Management of rare diseases of the Head, Neck and Teeth: results of a French population-based prospective 8-year study

Orphanet Journal of Rare Diseases
Lisa FriedlanderMuriel De La Dure Molla

Abstract

In the last ten years, national rare disease networks have been established in France, including national centres of expertise and regional ones, with storage of patient data in a bioinformatics tool. The aim was to contribute to the development and evaluation of health strategies to improve the management of patients with rare diseases. The objective of this study has been to provide the first national-level data concerning rare diseases of the head, neck and teeth and to assess the balance between demand and supply of care in France. Centres of expertise for rare diseases record a minimum data set on their clinical cases, using a list of rare Head, Neck and Teeth diseases established in 2006. The present analysis focuses on 2008 to 2015 data based on the Orphanet nomenclature. Each rare disease RD "case" was defined by status "affected" and by the degree of diagnostic certainty, encoded as: confirmed, probable or non-classifiable. Analysed parameters, presented with their 95% confidence intervals using a Poisson model, were the following: time and age at diagnosis, proportions of crude and standardized RD prevalence by age, gender and geographical site. The criteria studied were the proportions of patients in Paris Region and...Continue Reading

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Citations

May 1, 2019·Revista da Escola de Enfermagem da U S P·Marli Luiz BeluciRosana Aparecida Spadoti Dantas

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Methods Mentioned

BETA
MDS
medical procedure

Software Mentioned

CEMARA
BNDMR
R
MAFACE

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