The activity approach as a part of a socializing process in adaptive sports activities

The study and development of the socialization process is a topical problem for science and practice nowadays. The authors present in the article the analysis results of the activity approach as a part of the socializing process in adaptive sports activities. The material is addressed to the factors of social upbringing and the implementation of the goals and objectives of socialization in adaptive sports activities. The paper also contains the study results of socialization of schoolchildren with limited abilities in adaptive sports activities. In addition, the possibilities of sports and the negative impact of sports models on the socialization of children with limited abilities have been analysed in this paper. An integrated model of adaptive-sports extracurricular activities for students with limited abilities, its organization technology has been presented. As a result of the study, it has been proved that adaptive sports activities as an area of self-expression, manifestation and formation of certain abilities, gifts and talent, is an important part of socialization of the student which helps prepare students with limited abilities for life

Current Approaches in Management of Patients with Hypophosphatasia

he authors present the latest data on the hypophosphatasia (HPP) management in children. Hypophosphatasia is a rare genetic disease caused by deficiency of tissue-specific alkaline phosphatase due to mutation in the ALPL gene. The article covers all the features of epidemiology, etiology and pathogenesis, detailed stages of differential diagnostics. Treatment guidelines for pediatric patients are provided, they are based on the principles of evidence-based medicine. Special attention was given to the only effective method of hypophosphatasia management —enzyme replacement therapy (ERT). This material is the clinical guideline draft for the management of patients with hypophosphatasia prepared by the Union of Pediatricians of Russia and the Association of Medical Geneticists

Современные подходы к ведению детей с мукополисахаридозом I типа

This article presents modern data on epidemiology, etiology, and clinical manifestations of mucopolysaccharidosis (MPS) type I in children. MPS develops due to deficiency of particular lysosomal enzyme which determines the disease type. The article considers in details disease's pathogenesis and classification. Evidence-based approaches to diagnosis (differential diagnosis included) are covered, moreover, special attention is paid to pathogenetic, symptomatic, and surgical treatment of MPS.В статье представлены современные сведения об эпидемиологии, этиологии и клинических проявлениях мукополисахаридоза (МПС) I типа у детей. МПС развивается в результате дефицита того или иного лизосомального фермента, что определяет тип болезни. В статье подробно рассмотрены вопросы патогенеза и классификации заболевания. Освещены основанные на доказательной медицине подходы к диагностике, в том числе дифференциальной, особое внимание уделено патогенетическому, симптоматическому, хирургическому лечению МПС

Современные подходы к ведению пациентов с гипофосфатазией

he authors present the latest data on the hypophosphatasia (HPP) management in children. Hypophosphatasia is a rare genetic disease caused by deficiency of tissue-specific alkaline phosphatase due to mutation in the ALPL gene. The article covers all the features of epidemiology, etiology and pathogenesis, detailed stages of differential diagnostics. Treatment guidelines for pediatric patients are provided, they are based on the principles of evidence-based medicine. Special attention was given to the only effective method of hypophosphatasia management —enzyme replacement therapy (ERT). This material is the clinical guideline draft for the management of patients with hypophosphatasia prepared by the Union of Pediatricians of Russia and the Association of Medical Geneticists.Авторами представлены новейшие данные по ведению гипофосфатазии у детей. Гипофосфатазия — редкое генетическое заболевание, обусловленное дефицитом тканенеспецифической щелочной фосфатазы в результате мутации в гене ALPL. В статье отражены особенности эпидемиологии, этиологии и патогенеза, подробно освещаются этапы дифференциально-диагностического поиска. Для пациентов детского возраста приведены рекомендации по лече- нию, основанные на принципах доказательной медицины. Особое внимание уделено единственному эффективному методу лечения гипофосфатазии — ферментозаместительной терапии. Представленный материал является проектом клинических рекомендаций по ведению пациентов с гипофосфатазией Союза педиатров России и Ассоциации медицинских генетиков