Problems of Social Hygiene, Public Health and History of MedicineProblems of Social Hygiene, Public Health and History of Medicine0869-866X2412-2106Joint-Stock Company Chicot36710.32687/0869-866X-2020-28-s1-778-784Научная статьяMethods for quality of life assessment in children with orphanic diseasesMakarovaE. V.rue-royal@inbox.ruKrysanovI. S.-VasilyevaT. P.-AlexandrovaO. Yu.-MalachovaA. R.-N. A. Semashko National Research Institute of Public HealthFSBI “National Medical Research Center of Rehabilitation and Balneology” of the Ministry of Health of Russian FederationFSBEI HE MGUPP Medical Institute of Continuing Education151220202877878406042021Copyright © 2020,2020Orphan (rare) diseases include congenital or acquired diseases, the frequency of occurrence of which does not exceed a certain number established by the laws of various countries. Despite its rarity, the orphan diseases make a significant contribution to the structure of population disability and most of them have no specific treatment. One of the main clinical challenges in these patients is to ensure their high quality of life (QOL). The review describes basic non-specific and specific questionnaires for assessing QOL in children with orphan diseases. An ideal questionnaire for assessing QOL in children with orphan disease should be sufficiently reliable, valid, sensitive and specific, fill out by a child or adolescents on their own, include questions covering as much as possible all areas of life and health aspects - especially those associated with the main decease. The questionnaire should not be too huge and complicated for the patient. From the side of the researcher, the simplicity of the tool in calculating and the ability to use the results for subsequent analysis are important.orphan diseasesrare diseasesquality of lifepersonalized medicinemental healthphysical healthорфанные заболеванияредкие заболеваниякачество жизниперсонализированная медицинапсихическое здоровьефизическое здоровье1.European Medicines Agency Annual report on the use of the special contribution for orphan medicinal products (2019). Режим доступа: https://www.ema.europa.eu/en/documents/annual-report/annual-report-use-special-contribution-orphan-medicinal-products-2019_en.pdf2.Pelentsov L. J., Laws T. A., Esterman A. J. The supportive care needs of parents caring for a child with a rare disease: a scoping review. Disabil. Health J. 2015;8:475-91. doi: 10.1016/j.dhjo.2015.03.0093.Orphanet Report Series - Prevalence of rare diseases: Bibliographic data. 2020 Jan;(1). Режим доступа: http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf4.Волкова Н. С., Аксу Э. Редкие (орфанные) заболевания: правовое регулирование в России и за рубежом. Журнал зарубежного законодательства и сравнительного правоведения. 2018;4(71):154-60.5.Shilling V., Morris C., Thompson-Coon J., Ukoumunne O., Rogers M., Logan S. Peer support for parents of children with chronic disabling conditions: a systematic review of quantitative and qualitative studies. Dev. Med. Child Neurol. 2013;55(7):602-9. doi: 10.1111/dmcn.120916.Rath A., Salamon V., Peixoto S., et al. A systematic literature review of evidence-based clinical practice for rare diseases: what are the perceived and real barriers for improving the evidence and how can they be overcome? Trials. 2017;18(1):556. doi: 10.1186/s13063-017-2287-77.WHOQOL Group. The World Health Organization Quality of life assessment (WHOQOL): position paper from the World Health Organization. Soc. Sce. Med. 1995;41:1403-9.8.Cohen J. S., Biesecker B. B., Quality of life in rare genetic conditions: a systematic review of the literature. Am. J. Med. Genet. Part A. 2010;152A(5):1136-56. doi: 10.1002/ajmg.a.333809.Solovieva S., Santavirta N., Santavirta S., Konttinen Y. T. Assessing quality of life in individuals with hereditary blood coagulation disorders. Qual. Life Res. 2004;13:987-1000. PubMed: 1523351.10.Grootenhuis M. A., de Boone J., van der Kooi A. J. Living with muscular dystrophy: Health related quality of life consequences for children and adults. Health Qual. Life Outcomes. 2007;5:31. PubMed: 17553127.