Adapting to Adulthood: A Review of Transition Strategies for Osteogenesis Imperfecta.
| Title: | Adapting to Adulthood: A Review of Transition Strategies for Osteogenesis Imperfecta. |
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| Authors: | Celli L; Department of Human Genetics, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands.; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Department of Endocrinology and Metabolism, Amsterdam UMC Location Vrije Universiteit, Amsterdam, The Netherlands.; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.; Rare Bone Diseases Center, AOU Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.; Department of Materna Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.; Garrelfs MR; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Pediatric Endocrinology, Amsterdam UMC, University of Amsterdam and Vrije Universiteit, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Sakkers RJB; Department of Orthopedic Surgery, University Medical Center Utrecht, Utrecht, The Netherlands.; Elting MW; Department of Human Genetics, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands.; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Celli M; Rare Bone Diseases Center, AOU Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.; Department of Materna Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.; Bökenkamp A; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam, The Netherlands.; Smits C; Otolaryngology-Head and Neck Surgery, Section Ear and Hearing, Amsterdam UMC, Amsterdam, The Netherlands.; Amsterdam Public Health Research Institute, Amsterdam UMC, Amsterdam, The Netherlands.; Goderie T; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Otolaryngology-Head and Neck Surgery, Section Ear and Hearing, Amsterdam UMC, Amsterdam, The Netherlands.; Smit JM; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Plastic, Reconstructive- and Hand Surgery, Amsterdam UMC, Location VUmc, Amsterdam, The Netherlands.; Amsterdam Bone Centre, Amsterdam, The Netherlands.; Schwarte LA; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Anesthesiology, Amsterdam UMC, Amsterdam, The Netherlands.; Schober PR; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Anesthesiology, Amsterdam UMC, Amsterdam, The Netherlands.; Lubbers WD; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Anesthesiology, Amsterdam UMC, Amsterdam, The Netherlands.; Visser MC; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Neurology, Amsterdam University Medical Centre, Location AMC, Amsterdam, The Netherlands.; Kievit AJ; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Orthopedic Surgery and Sports Medicine, Amsterdam UMC Location AMC, Amsterdam, The Netherlands.; van Royen BJ; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Department of Orthopedic Surgery and Sports Medicine, Amsterdam UMC Location AMC, Amsterdam, The Netherlands.; Amsterdam Movement Sciences Research Institute, Amsterdam, The Netherlands.; Gilijamse M; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Amsterdam Movement Sciences Research Institute, Amsterdam, The Netherlands.; Department of Oral and Maxillofacial Surgery, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands.; Schreuder WH; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Oral and Maxillofacial Surgery, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands.; Rustemeyer T; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Dermato-Allergology and Occupational Dermatology, Amsterdam UMC, Amsterdam, The Netherlands.; Pramana A; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Center for Special Care in Dentistry, Department of Maxillofacial Prosthodontics, Stichting Bijzondere Tandheelkunde, Amsterdam, The Netherlands.; Hendrickx JJ; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Otolaryngolgy/Head and Neck Surgery, Amsterdam UMC Location VUMC, Amsterdam, The Netherlands.; Cancer Center Amsterdam, Amsterdam, The Netherlands.; Dahele MR; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Radiation Oncology, Amsterdam UMC, Location VUMC, Amsterdam, The Netherlands.; Saeed P; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Orbital center, Department of ophthalmology, Amsterdam UMC, Amsterdam, The Netherlands.; Moll AC; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Cancer Center Amsterdam, Amsterdam, The Netherlands.; Department of Ophthalmology, Amsterdam UMC, Location VUmc, Amsterdam, The Netherlands.; Curro-Tafili KR; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Ophthalmology, Amsterdam UMC, Location VUmc, Amsterdam, The Netherlands.; Ghyczy EAE; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Ophthalmology, Amsterdam UMC, Location VUmc, Amsterdam, The Netherlands.; Dickhoff C; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Cancer Center Amsterdam, Amsterdam, The Netherlands.; Department of Cardiothoracic Surgery, Amsterdam UMC Location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; de Leeuw RA; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Cancer Center Amsterdam, Amsterdam, The Netherlands.; Department of Obstetrics and Gynecology, Amsterdam UMC, Location AMC, Amsterdam, The Netherlands.; Bonjer JH; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Surgery, Amsterdam University Medical Centre, Amsterdam, The Netherlands.; Nieuwenhuijzen JA; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Urology, Amsterdam UMC Location VUMC, Amsterdam, The Netherlands.; Konings TC; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Cardiology, Amsterdam UMC, Location University of Amsterdam, Amsterdam, Netherlands.; Engelsman AF; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Cancer Center Amsterdam, Amsterdam, The Netherlands.; Department of Surgery, Amsterdam University Medical Centre, Amsterdam, The Netherlands.; Eeckhout AM; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Psychiatry, Amsterdam UMC, Amsterdam, The Netherlands.; van den Aardweg JG; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Respiratory Medicine, Amsterdam UMC, Location AMC, Amsterdam, The Netherlands.; Thoral PJ; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Intensive Care Medicine, Center for Critical Care Computational Intelligence, Amsterdam UMC, Vrije Universiteit, Amsterdam, The Netherlands.; Noske DP; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Neurosurgery, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands.; Dubois L; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Oral and Maxillofacial Surgery, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands.; Teunissen BP; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Radiology and Nuclear Medicine, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands.; Semler O; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Wekre LL; TRS National Resource Center for Rare Disorders, Sunnaas Rehabilitation Hospital, Oslo, Norway.; Maasalu K; Department of Orthopaedics, University of Tartu, Tartu, Estonia.; Clinic of Orthopaedics, Tartu University Hospital, Tartu, Estonia.; Märtson A; Department of Orthopaedics, University of Tartu, Tartu, Estonia.; Clinic of Orthopaedics, Tartu University Hospital, Tartu, Estonia.; Sangiorgi L; Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.; Versacci P; Department of Materna Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.; Riminucci M; Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy.; Grammatico P; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.; Zambrano A; Rare Bone Diseases Center, AOU Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.; Department of Materna Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.; Martini L; Department of Orthopaedic and Traumatology, 'Sapienza' University of Rome, Rome, Italy.; Castori M; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Foggia, Italy.; Botman E; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Endocrinology and Metabolism, Amsterdam UMC Location Vrije Universiteit, Amsterdam, The Netherlands.; Westerheim I; Osteogenesis Imperfecta Federation Europe (OIFE), Heffen, Belgium.; Zhytnik L; Department of Human Genetics, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands.; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Department of Endocrinology and Metabolism, Amsterdam UMC Location Vrije Universiteit, Amsterdam, The Netherlands.; Department of Orthopaedics, University of Tartu, Tartu, Estonia.; Micha D; Department of Human Genetics, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands.; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Amsterdam Movement Sciences Research Institute, Amsterdam, The Netherlands.; Eekhoff EMW; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands. emw.eekhoff@amsterdamumc.nl.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands. emw.eekhoff@amsterdamumc.nl.; Department of Endocrinology and Metabolism, Amsterdam UMC Location Vrije Universiteit, Amsterdam, The Netherlands. emw.eekhoff@amsterdamumc.nl.; Amsterdam Bone Centre, Amsterdam, The Netherlands. emw.eekhoff@amsterdamumc.nl.; Amsterdam Movement Sciences Research Institute, Amsterdam, The Netherlands. emw.eekhoff@amsterdamumc.nl. |
| Source: | Calcified tissue international [Calcif Tissue Int] 2024 Dec; Vol. 115 (6), pp. 960-975. Date of Electronic Publication: 2024 Nov 13. |
| Publication Type: | Journal Article; Systematic Review |
| Language: | English |
| Journal Info: | Publisher: Springer Verlag Country of Publication: United States NLM ID: 7905481 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0827 (Electronic) Linking ISSN: 0171967X NLM ISO Abbreviation: Calcif Tissue Int Subsets: MEDLINE |
| Imprint Name(s): | Publication: New York Ny : Springer Verlag; Original Publication: Berlin, New York, Springer International. |
| MeSH Terms: | Osteogenesis Imperfecta*/therapy ; Transition to Adult Care*; Humans ; Adult ; Child |
| 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.; (© 2024. The Author(s).) |
| 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. |
| References: | Eur J Med Genet. 2024 Feb;67:104891. (PMID: 38040052); Calcif Tissue Int. 2024 Dec;115(6):873-890. (PMID: 38942908); Int J Orthop Trauma Nurs. 2019 May;33:27-34. (PMID: 30910468); Orphanet J Rare Dis. 2024 Mar 21;19(1):128. (PMID: 38515144); Orphanet J Rare Dis. 2024 Sep 9;19(1):331. (PMID: 39252130); Children (Basel). 2022 Feb 16;9(2):. (PMID: 35204988); Front Endocrinol (Lausanne). 2022 Apr 25;13:869604. (PMID: 35546999); BMC Health Serv Res. 2014 Oct 31;14:489. (PMID: 25366588); Calcif Tissue Int. 2024 Mar;114(3):210-221. (PMID: 38243143); Clin Transl Sci. 2020 Sep;13(5):960-971. (PMID: 32166892); Acta Orthop. 2021 Oct;92(5):608-614. (PMID: 34180749); Connect Tissue Res. 1995;31(4):S31-5. (PMID: 15612378); Am J Med Genet A. 2013 Aug;161A(8):1972-9. (PMID: 23804581); Orphanet J Rare Dis. 2021 Mar 20;16(1):140. (PMID: 33743784); Curr Osteoporos Rep. 2023 Aug;21(4):426-432. (PMID: 37266843); Front Endocrinol (Lausanne). 2020 Aug 11;11:481. (PMID: 32849274); Hum Genomics. 2019 Jun 3;13(1):25. (PMID: 31159867); Osteoporos Int. 2018 Dec;29(12):2781-2789. (PMID: 30143849); Acta Ophthalmol. 2022 Feb;100(1):e16-e28. (PMID: 34009739); Clin Nurse Spec. 2018 Nov/Dec;32(6):323-335. (PMID: 30299335); J Med Genet. 1979 Apr;16(2):101-16. (PMID: 458828); Endocr Connect. 2023 Jan 27;12(2):. (PMID: 36524809); J Musculoskelet Neuronal Interact. 2012 Mar;12(1):24-7. (PMID: 22373948); Child Care Health Dev. 2011 Nov;37(6):815-20. (PMID: 22007981); Orphanet J Rare Dis. 2023 Feb 22;18(1):34. (PMID: 36814274); Clin Nurse Spec. 2020 May/Jun;34(3):99-106. (PMID: 32250991); Pediatrics. 2002 Dec;110(6 Pt 2):1304-6. (PMID: 12456949); BMC Rheumatol. 2022 Nov 14;6(1):85. (PMID: 36376987); J Pediatr Nurs. 2015 Sep-Oct;30(5):e119-29. (PMID: 26195301); J Pediatr Nurs. 2024 May-Jun;76:1-15. (PMID: 38309191); Disabil Health J. 2022 Jan;15(1):101168. (PMID: 34266787); Ann N Y Acad Sci. 1988;543:1-15. (PMID: 3063156); JMIR Res Protoc. 2023 Jun 23;12:e47524. (PMID: 37351933); Pediatrics. 2018 Nov;142(5):. (PMID: 30348754); Ann Med. 2021 Dec;53(1):1676-1687. (PMID: 34569391); Endocrinol Metab Clin North Am. 2024 Mar;53(1):53-65. (PMID: 38272598); Chest. 2023 May;163(5):1201-1213. (PMID: 36640996); Cureus. 2023 Oct 11;15(10):e46825. (PMID: 37954806); Orphanet J Rare Dis. 2018 Sep 10;13(1):158. (PMID: 30201006); Biomolecules. 2023 Feb 02;13(2):. (PMID: 36830650); Dan Med J. 2018 Apr;65(4):. (PMID: 29619932); Otol Neurotol. 2023 Aug 1;44(7):e449-e455. (PMID: 37317476); Front Endocrinol (Lausanne). 2023 Mar 17;14:1137976. (PMID: 37008909); Hum Genet. 2021 Aug;140(8):1121-1141. (PMID: 34169326); J Child Health Care. 2021 Jun;25(2):305-319. (PMID: 32602355); Front Endocrinol (Lausanne). 2020 Feb 11;10:924. (PMID: 32117044); Front Med (Lausanne). 2023 Dec 21;10:1301873. (PMID: 38179272) |
| Contributed Indexing: | Keywords: Adult care; Continuity of patient care; Multidisciplinary care; Osteogenesis imperfecta; Transitional care |
| Entry Date(s): | Date Created: 20241113 Date Completed: 20241129 Latest Revision: 20250711 |
| Update Code: | 20260130 |
| PubMed Central ID: | PMC11607004 |
| DOI: | 10.1007/s00223-024-01305-1 |
| PMID: | 39535563 |
| Database: | MEDLINE |
Journal Article; Systematic Review