| Autor: |
N. YU., GOLOVANOVA, N. C., PODCHERNYAEVA, O. V., SHPITONKOVA, E. V., FROLKOVA, T. V., ZUBAREVA, Y. N., TYURINA |
| Předmět: |
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| Zdroj: |
New Armenian Medical Journal; Sep2020, Vol. 14 Issue 3, p52-59, 8p |
| Abstrakt: |
The article discusses the psychological problems of children with rare genetic diseases of an autosomal dominant nature - fibrodysplasia ossificans progressiva and progressive osseous heteroplasia. The diseases are accompanied by ossification and/or calcifications of soft connective tissue mass outlined among various congenital bone and articular abnormalities. Inevitably developing contractures of joints adjacent to ossificates and calcifications on the spinal cord lead to limited mobility up to the patient's partial or complete inability to perform self-care. Along with the commonly found acquired skeletal deformities that change the appearance, they cause psychological disorders, thus becoming an obstacle to the successful integration of a child in society. In this regard, the life quality of these patients is being addressed. The authors share their experience in attempts to solve the psychological problems of patients, having 33 children under supervision (among them 28 children with fibrodysplasia ossificans progressiva and 5 children with progressive osseous heteroplasia). The issues of the future professional choice of adolescents are raised. The attitude towards these patients in the family is described. The article also describes new psychological problems between a doctor and parents, resulting from a possible preclinical diagnosis of these genetic diseases. The absence of etiotropic, pathogenetic therapy, even symptomatic treatment with proven effectiveness, also aggravates the psychological problems, giving rise to despair or unreasonable expectations of patients. It is also highly important to focus on the discussion of the psychological state of parents who face a very difficult choice whether to have other children or not, for the risk of a recurrence of congenital pathology, or for the fear of potential challenges in the relationship of future children. The article substantiates the necessity of close interaction of doctors - pediatricians, rheumatologists, orthopedists, geneticists with psychologists in search of joint solutions of psychological problems in the family with a child who has a rare disabling genetic pathology. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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