Evidence map›Paper›PMID 42176186›Full record

ArticleAdvances in therapy2026

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

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 and 11 more

Erratum issuedAbstract readScoping Review
In one paragraph

Article in Advances in therapy, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

21 authors.

Sílvia CoutinhoNorwegian Centre for Rare Diseases, Unit Sunnaas, Bjørnemyr, Norway.
Lise Sofie JensenNorwegian Centre for Rare Diseases, Unit Sunnaas, Bjørnemyr, Norway.
Thilini H GamageSection of Children's Orthopaedics and Reconstructive Surgery, Division of Orthopaedics, Oslo University Hospital, Oslo, Norway.
Toril M HestnesResearch Skills and Literature Search Section, Medical Library at Ullevål Hospital, University of Oslo, Oslo, Norway.
Natasha M Appelmann-DijkstraDivision of Endocrinology, Department of Internal Medicine, Centre for Bone Quality, Leiden University Medical Centre, Leiden, The Netherlands.
Alberto BazzocchiDiagnostic and Interventional Radiology, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
Martine Cohen-SolalDepartment of Rheumatology, Hospital Lariboisiere, Inserm U1132 Bioscar, Université Paris-Cité, Paris, France.
Rachel K CrowleyRare Disease Clinical Trial Network, University College Dublin, Dublin, Ireland.
Elisabeth M W EekhoffRare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.
Nadine GroßmannInstitute of Chemistry and Biochemistry, Freie Universität Berlin, Berlin, Germany.
Maria Cecilia la ForgiaA.C.A.R. Aps, The Italian Patient Association for Multiple Osteochondromas, Ollier Disease and Maffucci Syndrome, Rome, Italy.
André TravessaDepartment of Medical Genetics, ULS Santa Maria, Lisbon, Portugal.
Giovanna MantovaniEndocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Laura MasiMetabolic Bone Diseases Unit, Musculoskeletal and Rehabilitation Department, Careggi University Hospital, Florence, Italy.
Dimitra MichaRare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.
Ralf OheimInstitute of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Tenna T SylvestXLH Denmark, The Danish Patient Association for X-Linked Hypophosphatemia (XLH), Hypophosphatasia (HPP) and Other Related Hereditary Rickets Disorders, Copenhagen, Denmark.
Giovanni TrisolinoUnit of Pediatric Orthopedics and Traumatology, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
Elizabeth M WinterDivision of Endocrinology, Department of Internal Medicine, Centre for Bone Quality, Leiden University Medical Centre, Leiden, The Netherlands.
Joachim HornSection of Children's Orthopaedics and Reconstructive Surgery, Division of Orthopaedics, Oslo University Hospital, Oslo, Norway.
Lena L WekreNorwegian Centre for Rare Diseases, Unit Sunnaas, Bjørnemyr, Norway. LENALW@sunnaas.no.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionRare 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.

methodsWithin 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.

resultsOf 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.

conclusionEvidence 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.

Indexed as

Bone DiseasesTransition to Adult CareAdolescentHumansYoung AdultPediatric to adult transitionRare bone mineral conditionsScoping reviewTransition care

Identifiers

PMID42176186
PMCPMC13415497

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.