Issues of orphan diseases of the nervous system in children during wartime

Autor: V.I. Tsymbaliuk, Y.G. Antypkin, L.G. Kyrylova, О.О. Miroshnykov
Jazyk: English<br />Ukrainian
Rok vydání: 2024
Předmět:
Zdroj: Zdorovʹe Rebenka, Vol 19, Iss 6, Pp 368-374 (2024)
Druh dokumentu: article
ISSN: 2224-0551
2307-1168
DOI: 10.22141/2224-0551.19.6.2024.1741
Popis: Background. The increasing number of orphan (rare) diseases, most of which have a prevalence of less than 1 : 1,000,000, poses a serious challenge for modern medicine. In most cases, diagnosis is delayed leading to irreversible changes in the body. The Department of Psychoneurology at the State Institution “Ukrainian Center of Maternity and Childhood of the National Academy of Medical Sciences of Ukraine” has been involved in diagnosing and treating orphan diseases in children since 2012, with 80 % of cases accompanied by nervous system involvement. The purpose was to conduct a retrospective analysis of medical records of patients treated at the Department of Psychoneurology for Children with Perinatal Pathology and Orphan Diseases during the war in Ukraine. Materials and methods. During the full-scale invasion, 42 children with orphan diseases were hospitalized to the department. A retrospective analysis of the medical records of these inpatients was conducted to identify the specifics of diagnosis, clinical manifestations, and treatment. Results. In 90 % of cases, orphan diseases presented with clinical masks of neurological pathologies, complicating early diagnosis. The highest percentage of diagnoses (38 %) occurred in children aged 1 to 5 years. Male children were more susceptible to orphan diseases (ratio 1 : 2). An important aspect of care was treatment: 21 % of children were referred to the department for developing treatment strategies by a multidisciplinary team. Conclusions. Despite the challenges, the Department of Psychoneurology at the State Institution “Ukrainian Center of Maternity and Childhood of the National Academy of Medical Sciences of Ukraine” continues to successfully combat orphan diseases in children. Although the goal is to diagnose these diseases within the first year of life, it remains a challenge for the global medical community. The department also implements effective targeted treatment regimens through a multidisciplinary approach.
Databáze: Directory of Open Access Journals
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