Year: 2026
Type: article
Study design: Systematic Review
Abstract: INTRODUCTION: Rare bone and mineral conditions (RBMCs) are diverse disorders involving skeletal fragility, altered bone metabolism, and multisystemic complications. Improved pediatric care has increased survival, creating a growing population of adolescents and young adults requiring specialized support. Yet, transition from pediatric to adult services remains fragmented and underdeveloped across RBMCs. This review aimed to map existing literature on transition care for young people with RBMCs and to identify priorities, barriers, and gaps to guide future research and practice. METHODS: Within the ERN BOND framework, a scoping review was conducted following PRISMA-ScR guidelines. MEDLINE, EMBASE, and SCOPUS were searched (July-August 2025) for studies addressing transition from pediatric to adult care in RBMCs. All study designs were eligible. Screening and data extraction were performed by multiple reviewers using Covidence, and findings were summarized descriptively. RESULTS: Of 1706 records identified, 34 met inclusion criteria. Most studies originated from Europe and North America and focused on osteogenesis imperfecta or X-linked hypophosphatemia. Expert opinion and consensus papers dominated the evidence base, while empirical research remained limited. Across RBMCs, transition processes were consistently described as suboptimal, with poor coordination, limited adult multidisciplinary expertise, unclear pathways, and inadequate patient preparation. Patients, parents, and healthcare professionals highlighted priorities such as continuity of care, structured planning, patient empowerment, psychosocial support, and improved communication between pediatric and adult teams. Barriers included scarcity of adult specialists, organizational fragmentation, and insufficient training. Recommendations emphasized early planning, readiness assessment, multidisciplinary collaboration, and support for self-management. CONCLUSION: Evidence on transition care in RBMCs is sparse, largely expert-driven, and concentrated in a few conditions. Nonetheless, consistent themes underscore the need for structured, coordinated, and patient-centered transition pathways. Strengthening adult expertise, ensuring continuity of care, and enhancing psychosocial support are essential to improve outcomes. Further longitudinal and implementation research is urgently needed to inform evidence-based transitional care models for RBMCs.
Source: Advances in Therapy
Authors: Sílvia Coutinho, Lise Sofie Jensen, Thilini H. Gamage, Toril M. Hestnes, Natasha M. Appelmann-Dijkstra, Alberto Bazzocchi, Martine Cohen-Solal, Rachel K. Crowley, Elisabeth M. W. Eekhoff, Nadine Großmann, Maria Cecilia la Forgia, André Travessa, Giovanna Mantovani, Laura Masi, Dimitra Micha, Ralf Oheim, Tenna T. Sylvest, Giovanni Trisolino, Elizabeth M. Winter, Joachim Horn, Lena L. Wekre
Institutions: Sunnaas sykehus, Oslo University Hospital, University of Oslo, Leiden University, Leiden University Medical Center, Istituto Ortopedico Rizzoli, Inserm, Université Paris Cité, Bioscar, Hôpital Lariboisière, University College Dublin, St. Vincent's University Hospital, Amsterdam Reproduction Development, Amsterdam UMC Location Vrije Universiteit Amsterdam, International Fibrodysplasia Ossificans Progressiva Association, Stiftung Charité, Freie Universität Berlin, Charité - Universitätsmedizin Berlin, University of Lisbon, University of Milan, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Azienda Ospedaliero-Universitaria Careggi, University Medical Center Hamburg-Eppendorf
Language: English
Subfield: Speech and Hearing
Field: Health Professions
Domain: Health Sciences
Open Access status: hybrid
Estimated APC paid: $4,790
Funder: European Commission
OpenAlex ID: W7162185184