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Quality of Life and Rare Diseases

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Rare Diseases Epidemiology

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 686))

Abstract

HRQOL assessment in patients with rare diseases can help to identify health needs, to evaluate the impact of disease and treatments, and to assess the evolution in health status through the natural history of disease. Several studies have shown that although some rare diseases do not necessarily affect life expectancy, the majority lead to physical, emotional and/or psychosocial limitations with a wide range of disabilities. Reliability as well as content, criterion, and construct validity, and also responsiveness should be taken into account in selecting the instrument to be used assessing individuals with rare diseases. The use of proxy-report may be essential in some cases where the patient is cognitively impaired or unable to communicate. Criteria for selecting a HRQOL instrument, as well as the more common strategies proposed help interpret scores on HRQOL instruments are addressed in the chapter. Given the impact of rare diseases on the quality of life of both patients and carers, it is likely that interest in its measurement will continue to increase among professionals, patients, and the general public. Improving the quality of life of people with rare diseases should be one of the most important goals of any health care intervention or multidisciplinary approach.

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Authors and Affiliations

  1. Catalan Agency for Health Technology Assessment and Research, Institut Municipal d’Investigació Mèdica (IMIM-Hospital del Mar), CIBER en Epidemiologia y Salud Pública (CIBERESP), Barcelona, 08005, Spain

    Luis Rajmil

  2. Evaluation Unit of the Canary Islands Health Service (SESCS), CIBER en Epidemiologia y Salud Publica (CIBERESP), C/Perez de Rozas, 5.4 Planta. 38004, S/C de Tenerife, Canary Islands, Spain

    Lilisbeth Perestelo-Pérez MPsych, PhD

  3. CIBER en Epidemiologia y Salud Publica (CIBERESP), Health Services Research Unit, IMIM-Hospital del Mar, Parc de Recerca Biomèdica de Barcelona, Barcelona, Spain

    Michael Herdman MSc

Authors
  1. Luis Rajmil
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  2. Lilisbeth Perestelo-Pérez MPsych, PhD
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  3. Michael Herdman MSc
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Correspondence to Luis Rajmil .

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Editors and Affiliations

  1. , Instituto de Investigaciñon en Enfermeda, Instituto de Salud Carlos III, Monforte de Lemos 5, Madrid, 28029, Spain

    Manuel Posada de la Paz

  2. , Office of Rare Diseases Research, National Institutes of Health, Executive Boulevard 6100, Bethesda, 20892-7518, USA

    Stephen C. Groft

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Rajmil, L., Perestelo-Pérez, L., Herdman, M. (2010). Quality of Life and Rare Diseases. In: Posada de la Paz, M., Groft, S. (eds) Rare Diseases Epidemiology. Advances in Experimental Medicine and Biology, vol 686. Springer, Dordrecht. https://doi.org/10.1007/978-90-481-9485-8_15

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