engleski

Network of Public Helath Institutions on Rare Diseases (NEPHIRD)

NEPHIRD is a network of Public Health Institutions working on rare diseases (RD) in Europe funded by European Commission and involving 18 countries. Seven RD including Prader Willi syndrome, neurofibromatosis type 1, Rett syndrome, myastenia gravis, propionic acidemia, Cornelia de Lange and limb defects, have been identified as a working list of NEPHIRD activities. The objectives of NEPHIRD are 1) collection and evaluation of epidemiological data (i.e. incidence, prevalence) of selected RD ; 2) assessment of quality and accessibility of health and social care services ; 3) assessment of quality of life of people affected by RD. 1. A review of available epidemiological studies was performed on myastenia gravis as a model. Thirteen population-based studies performed during the last twenty years were examined. Heterogeneity in the annual occurrence was observed ; this may be partly due to differences in the study designs. 2. A pilot survey involving patients' associations was carried out in several EU countries to assess accessibility and quality of health care and social services in patients with myastenia gravis, neurofibromatosis type 1, Prader Willi syndrome and Rett syndrome. Negative issues were identified in particular for MG, concerning availability of information, support by social services and vocational training. For all diseases, readiness to help by health operators was the most positive point. 3. To assess the health-related quality of life (HRQoL) we selected NF1 and Prader Willi syndrome as case-study. All patients affected by NF1 and PW underwent a) clinical examination and b) patients oriented evaluation. a) With regards to clinical examination, we performed extensive and standardized clinical examination, specific for each disease. b) Patient-oriented evaluation was assessed by Health Related Quality of Life Questionnaire, such as SF-36 and CHQ. Patients with NF1 and PW had lower scores than the healthy general population, for all domains of SF-36 profile and CHQ. In conclusion, data produced in the frame of NEPHIRD projects highlights the following key issues:  A systematic review of met analysis will be necessary to produce epidemiological indices for diseases without epidemiological data collection.  The need to carry out surveys on the opinion and degree of empowerment of health and social services users  The importance of HRQoL survey to evaluate the impact of diseases on QoL

NEPHIRD; rare diseases; neurofibromatosis type I; Prader Willi syndrome; Rett syndrome; myastenia gravis; propionic acidemia; Cornelia de Lange syndrome; limb defects; quality of life; epidemiology

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