Научно-практический рецензируемый журнал
"Современные проблемы здравоохранения
и медицинской статистики"
Scientific journal «Current problems of health care and medical statistics»
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THE FIRST OBSERVATIONAL EPIDEMIOLOGICAL STUDY TO DETERMINE THE PREVALENCE OF SPINAL MUSCULAR ATROPHY IN THE RUSSIAN FEDERATION

Starodubov V. I.1, Zelenova O. V.1, Vitkovskaya I. P.1,2, Abramov S. I.1, Oskov Yu. I.1, Sterlikov S. A.1
1. Federal Research Institute for Health Organization and Informatics of Ministry of Health of the Russian Federation, Moscow
2. State budgetary institution of health care of the city of Moscow "Morozovskaya children's city clinical hospital Of the Department of health of the city of Moscow", Moscow
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Summary:
Relevance. The lack of data on the prevalence and incidence of spinal muscular atrophy in Russia does not allow to rationally plan the budget instructions no PR – 1395 on the mechanism of target use of financing costs associated with the provision of medical aid to children at the expense of funds received in budgets of budgetary system of the Russian Federation in connection with the increase in the tax rate on personal income. Spinal muscular atrophy (SMA), as an orphan disease, can potentially count on inclusion in the funding program due to its social significance. In the absence of a real clinical register and information about sick patients in the forms of state statistics, conducting an observational epidemiological study can be the beginning of building an organizational model for providing medical care to patients with SMA. The aim of this work was to conduct a study on the General morbidity (analogous to prevalence) of patients with SMA. The main objectives of the study are to determine the total (interval) incidence of SMA 2019 observed during 2019 per 100,000 population, to forecast the number of patients with type I-III SMA in Federal districts based on the obtained calculations of the total incidence, and to analyze patients of each type by age and gender, by motor activity, and by the need for palliative medical interventions, including nutritional and respiratory support. Materials and methods. A cross-sectional interval study with two stages of data validation was conducted in 25 regions of the Russian Federation, based on which the analysis and calculation of the incidence of SMA in the Russian Federation for 2019 was carried out. Extensive and intensive indicators and their 95% confidence intervals (95% CI) were calculated for statistical processing of the material. Diagnosis of types I, II, and III of SMA is critical for determining the need for therapy. This is due to the fact that type 0 SMA is not subject to therapy, and patients with type IV SMA lead a normal lifestyle, and usually do not need therapy. In this regard, to determine the overall incidence I, II, III type of SMA to determine the low and the optimal forecast of General morbidity I, II, III types of SMA were included 668 patients with I, II, III types of SMA, which determined the structure of types of SMA, which became the basis for the average forecast of General morbidity of the AGR. Results. A structure is obtained in which (with the exception of type IV): Type I was 21.0% [95%CI 18.7-23.44]; p=0.9; type II was 48.0% [95%CI 45.1-50.9]; p=0.7; type III was 31.0% [95% CI 28.4-33.7]; p=0.9. Taking this into account, we accepted this structure as validated, and used it for the average (optimal) prognosis of the incidence of types I, II, III of SMA. Conclusions. The expected total incidence of SMA in the Russian Federation is from 0.82 to 1.21 per 100,000 population, including type I 0.14-0.27; type II 0.38-0.57, type III 0.22-0.43. In the structure of SMA, type I is 20.5%, type II is 49.2%, and type III is 30.3%.
Keywords spinal muscular atrophy, SMA, SMA type I, II, III, SMA incidence, SMA prevalence

Bibliographic reference:
Starodubov V. I., Zelenova O. V., Vitkovskaya I. P., Abramov S. I., Oskov Yu. I., Sterlikov S. A., THE FIRST OBSERVATIONAL EPIDEMIOLOGICAL STUDY TO DETERMINE THE PREVALENCE OF SPINAL MUSCULAR ATROPHY IN THE RUSSIAN FEDERATION // Scientific journal «Current problems of health care and medical statistics». - 2020. - №4;
URL: http://healthproblem.ru/magazines?textEn=546 (date of access: 19.04.2024).

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