1. Adapting to Adulthood: A Review of Transition Strategies for Osteogenesis Imperfecta.
- Author
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Celli L, Garrelfs MR, Sakkers RJB, Elting MW, Celli M, Bökenkamp A, Smits C, Goderie T, Smit JM, Schwarte LA, Schober PR, Lubbers WD, Visser MC, Kievit AJ, van Royen BJ, Gilijamse M, Schreuder WH, Rustemeyer T, Pramana A, Hendrickx JJ, Dahele MR, Saeed P, Moll AC, Curro-Tafili KR, Ghyczy EAE, Dickhoff C, de Leeuw RA, Bonjer JH, Nieuwenhuijzen JA, Konings TC, Engelsman AF, Eeckhout AM, van den Aardweg JG, Thoral PJ, Noske DP, Dubois L, Teunissen BP, Semler O, Wekre LL, Maasalu K, Märtson A, Sangiorgi L, Versacci P, Riminucci M, Grammatico P, Zambrano A, Martini L, Castori M, Botman E, Westerheim I, Zhytnik L, Micha D, and Eekhoff EMW
- Subjects
- Humans, Adult, Child, Osteogenesis Imperfecta therapy, Transition to Adult Care
- Abstract
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., Competing Interests: Declarations. Conflict of interest: Luca, Mark R. Garrelfs, Ralph J. B. Sakkers, Mariet W. Elting, Mauro Celli, Arend Bökenkamp, Cas Smits, Thadé Goderie, Jan Maerten Smit, Lothar A. Schwarte, Patrick R. Schober, Wouter D. Lubbers, Marieke C. Visser, Arthur J. Kievit, Barend J. van Royen, Marjolijn Gilijamse, Willem H. Schreuder, Thomas Rustemeyer, Angela Pramana, Jan-Jaap Hendrickx, Max R. Dahele, Peerooz Saeed, Annette C. Moll, Katie R. Curro–Tafili, Ebba A. E. Ghyczy, Chris Dickhoff, Robert A. de Leeuw, Jaap H. Bonjer, Jakko A. Nieuwenhuijzen, Thelma C. Konings, Anton F. Engelsman, Augustinus M. Eeckhout, Joost G. van den Aardweg, Patrick J. Thoral, David P. Noske, Leander Dubois, Berend P. Teunissen, Oliver Semler, Lena Lande Wekre, Katre Maasalu, Aare Märtson, Luca Sangiorgi, Paolo Versacci, Mara Riminucci, Paola Grammatico, Anna Zambrano, Lorena Martini, Marco Castori, Esmee Botman, Ingunn Westerheim, Lidiia Zhytnik, Dimitra Micha, Elisabeth Marelise W. Eekhoff have no competing interests to declare that are relevant to the content of this article. Ethical Approval: Not applicable., (© 2024. The Author(s).)
- Published
- 2024
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