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Introduction <p>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.</p> Methods <p>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.</p> Results <p>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.</p> Conclusion <p>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.</p>

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Transition Care for Young People with Rare Bone and Mineral Conditions: A Scoping Review

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年5月23日

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  • 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

摘要

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.