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Rare diseases in disabled children: an epidemiologic survey
  1. P Guillem (pguillem{at}
  1. Centre Hospitalier Universitaire, France
    1. C Cans (ccans{at}
    1. Centre Hospitalier Universitaire, France
      1. E Robert-Gnansia (elisabeth.robert-gnansia{at}
      1. Centre Hospitalier Universitaire, France
        1. S Ayme (ayme{at}
        1. INSERM, France
          1. P-S Jouk (psjouk{at}
          1. Centre Hospitalier Universitaire, France


            Aims : to estimate the contribution of rare diseases (RD) among severe impairments in school_age children.

            Method : Data from a morbidity register of childhood impairments were used. Impairments were classified as Mental, Sensorial, Neuromuscular, skeletal and movement related impairments (MSN_I) according to the ICF chapter's of body function. Children born from 1980 to 1994, and resident in our county when they were seven-year-old, were actively recorded. Rare diseases were defined by a prevalence rate below 1 per 2000.

            Results : Twenty six percent of children with severe MSN_I pertain to the rare diseases group (RD group) whilst 36 % remained of unknown origin. The proportion of RD varies according to type of impairment: 3.3% in children with severe psychiatric disorders; 16.0% for intellectual impairment; 37.2% for hearing impairment; 41.2 for Neuromuscular Skeletal and Movement impairment and 81.1% for visual impairment. Overall prevalence rate of this RD group was 2.1 per 1000 (459/218 283), and it increased significantly over time (p=0.003). This increase was not associated with a decrease in the proportion of unknown origin group, thus it is rather in favour of an improvement in the survival of these children.

            Conclusion: Rare diseases are at the origin of 26% of severe MSN_I in children and their prevalence rate is increasing over time.

            • childhood disability
            • neuro-sensorial deficiency
            • rare diseases

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