[Role and actions of the orphan rare diseases reference center for central hypersomnias in France]

Rev Neurol (Paris). 2013 Feb:169 Suppl 1:S56-62. doi: 10.1016/S0035-3787(13)70061-4.
[Article in French]

Abstract

Narcolepsy (with or without cataplexy), idiopathic hypersomnia (with or without long sleep duration) and Kleine - Levin syndrome are the main central rare hypersomnias. They may be considered models to help us to better understand the mechanisms controlling sleep and waking regulation in humans. When creating the national centers for rare hypersomnias, the aims were: 1) screening and earlier treatment of patients with hypersomnia; 2) improving patient care with guidelines, a specific patient's card, coordination of treatments between centers and professionals, and the development of new treatments; 3) encouraging research studies into the epidemiology, pathophysiology and genotype/phenotype through the creation of clinical, DNA, sera and cerebrospinal fluid banks; 4) increasing public awareness among patients and their relatives, the general public and in the mass media of rare hypersomnias; and 5) regular evaluation of our activities. These goals appear to have been achieved over the past 5 years. However, there are now financial difficulties to be faced, given the increasing demands of patients and professionals while having to stay within the same limited budgets.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Diagnosis, Differential
  • Disorders of Excessive Somnolence / therapy*
  • France
  • Health Personnel
  • Humans
  • Information Centers / organization & administration*
  • Kleine-Levin Syndrome / diagnosis
  • Kleine-Levin Syndrome / therapy
  • Narcolepsy / therapy
  • Nervous System Diseases / therapy*
  • Patient Education as Topic
  • Rare Diseases / therapy*