Adapting to Adulthood: A Review of Transition Strategies for Osteogenesis Imperfecta.
СтатьяСистематический обзорНазвание и аннотация: Перевод в очереди
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Celli Luca, Garrelfs Mark R, Sakkers Ralph J B, Elting Mariet W, Celli Mauro, Bökenkamp Arend, Smits Cas, Goderie Thadé, Smit Jan Maerten, Schwarte Lothar A, Schober Patrick R, Lubbers Wouter D, Visser Marieke C, Kievit Arthur J, van Royen Barend J, Gilijamse Marjolijn, Schreuder Willem H, Rustemeyer Thomas, Pramana Angela, Hendrickx Jan-Jaap, Dahele Max R, Saeed Peerooz, Moll Annette C, Curro-Tafili Katie R, Ghyczy Ebba A E, Dickhoff Chris, de Leeuw Robert A, Bonjer Jaap H, Nieuwenhuijzen Jakko A, Konings Thelma C, Engelsman Anton F, Eeckhout Augustinus M, van den Aardweg Joost G, Thoral Patrick J, Noske David P, Dubois Leander, Teunissen Berend P, Semler Oliver, Wekre Lena Lande, Maasalu Katre, Märtson Aare, Sangiorgi Luca, Versacci Paolo, Riminucci Mara, Grammatico Paola, Zambrano Anna, Martini Lorena, Castori Marco, Botman Esmee, Westerheim Ingunn, Zhytnik Lidiia, Micha Dimitra, Eekhoff Elisabeth Marelise W
Аннотация
Osteogenesis Imperfecta (OI), known as "brittle bone disease," presents a rare genetic disorder characterized by bone fragility, often accompanied by skeletal deformities and extraskeletal complications. OI is primarily associated with collagen type I defects, responsible for the syndromic nature of the disease affecting a broad range of tissues. As such, its multisystemic complexity necessitates multidisciplinary care approaches in all patient life stages. OI treatment remains largely supportive, commonly including bisphosphonates and orthopedic surgeries, which show promise in children. Although rehabilitation programs for children exist, guidelines for adult care and especially the transition from pediatric to adult care, are lagging behind in OI care and research. The current systematic review summarizes the literature on OI patient pediatric to adult care transition experiences and compares OI transition approaches to other chronic diseases. The review was performed based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Systematic searches were conducted across multiple databases. Search terms encompassed synonyms and closely related phrases relevant to "OI" and "Transition to adult care". The initial screening involved the evaluation of article titles, followed by a thorough review of abstracts to assess relevance for the purpose of the current review. Programs aimed at easing the transition from pediatric to adult OI care necessitate a multifaceted approach. Collaborative efforts between different medical disciplines including pediatricians, endocrinologists, orthopedics, cardiology, pulmonology, ophthalmology, otolaryngologists, maxillofacial specialists, psychologists and medical genetics, are crucial for addressing the diverse needs of OI patients during this critical life phase. Comprehensive education, readiness assessments, personalized transition plans, and further follow-up are essential components of a structured transition framework. Further research is warranted to evaluate the feasibility and efficacy of sequential stepwise transition systems tailored to individuals with OI.