{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,17]],"date-time":"2025-12-17T18:13:20Z","timestamp":1765995200465,"version":"build-2065373602"},"reference-count":22,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2023,8,4]],"date-time":"2023-08-04T00:00:00Z","timestamp":1691107200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Osteogenesis Imperfecta (OI) is a rare genetic disorder in Type I collagen characterized by bone fractures, fragility, and deformity. Current treatments are focused on decreasing fracture rates, improving bone strength, and improving overall global function. Recent research has focused primarily on fracture fixation and outcomes of intramedullary rodding of long bones. While surgical techniques continue to evolve, recent trends in OI research are focusing on patient quality of life and patient-reported outcomes. We created a 12-question survey seeking information regarding aspects of orthopedic care that OI patients and families feel are the most pressing to improve. The survey was electronically administered, and 341 individuals participated. A total of 75% of respondents who answered the age question (254\/335) were adults. Regarding surgical intervention for long bones, only 16% of respondents recall being told they could not have surgery because they were too young. Of the 16%, 37.8% were told that &lt;5 years was too young, 13.4% &lt;4 years was too young, and 48.8% &lt;3 years of age was too young for surgical intervention for fractures or deformities. Nearly 22% of respondents were told that their bones were too small for intramedullary fixation. The patient and family responses help elucidate the topics requiring focus for the improvement of OI orthopedic care. Patient concerns and insights should drive the research questions we ask to advance the orthopedic care of OI patients.<\/jats:p>","DOI":"10.3390\/children10081345","type":"journal-article","created":{"date-parts":[[2023,8,4]],"date-time":"2023-08-04T09:27:48Z","timestamp":1691141268000},"page":"1345","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["\u201cOsteogenesis Imperfecta Patients Wish Orthopedic Surgeons Had Better Strategies to Help with\u2026\u201d\u2014Results of a Patient and Parent-Oriented Survey"],"prefix":"10.3390","volume":"10","author":[{"given":"Jill","family":"Flanagan","sequence":"first","affiliation":[{"name":"Department of Orthopaedic Surgery, Children\u2019s Healthcare of Atlanta, Atlanta, GA 30329, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Tosi","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Children\u2019s National, Washington, DC 20001, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erika","family":"Carter","sequence":"additional","affiliation":[{"name":"Osteogenesis Imperfecta Foundation, Gaithersburg, MD 20878, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tracy","family":"Hart","sequence":"additional","affiliation":[{"name":"Osteogenesis Imperfecta Foundation, Gaithersburg, MD 20878, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeanne","family":"Franzone","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Nemours Children\u2019s Hospital, Wilmington, DE 19899, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6278-9412","authenticated-orcid":false,"given":"Maegen","family":"Wallace","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Children\u2019s Hospital and Medical Center, Omaha, NE 68114, USA"},{"name":"Department of Orthopaedic Surgery, University of Nebraska Medical Center, Omaha, NE 68198, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,8,4]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1038\/nrendo.2011.81","article-title":"New perspectives on osteogenesis imperfecta","volume":"7","author":"Forlino","year":"2011","journal-title":"Nat. Rev. Endocrinol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1136\/jmg.23.4.328","article-title":"The birth prevalence rates for the skeletal dysplasias","volume":"23","author":"Orioli","year":"1986","journal-title":"J. Med. Genet."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1046","DOI":"10.1002\/ajmg.a.35327","article-title":"Analysis of skeletal dysplasias in the Utah population","volume":"158","author":"Stevenson","year":"2012","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"2159","DOI":"10.1002\/jbmr.2895","article-title":"Mortality and Causes of Death in Patients With Osteogenesis Imperfecta: A Register-Based Nationwide Cohort Study","volume":"31","author":"Folkestad","year":"2016","journal-title":"J. Bone Miner. Res."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"17052","DOI":"10.1038\/nrdp.2017.52","article-title":"Osteogenesis imperfecta","volume":"3","author":"Marini","year":"2017","journal-title":"Nat. Rev. Dis. Primers"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1002\/ajmg.c.31532","article-title":"Pharmacological and biological therapeutic strategies for osteogenesis imperfecta","volume":"172","author":"Marom","year":"2016","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/j.ocl.2018.10.003","article-title":"Osteogenesis Imperfecta: A Pediatric Orthopedic Perspective","volume":"50","author":"Franzone","year":"2019","journal-title":"Orthop. Clin. N. Am."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1097\/MOP.0000000000000813","article-title":"Osteogenesis imperfecta: Advancements in genetics and treatment","volume":"31","author":"Rossi","year":"2019","journal-title":"Curr. Opin. Pediatr."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"e10174","DOI":"10.1002\/jbm4.10174","article-title":"Osteogenesis Imperfecta: New Perspectives From Clinical and Translational Research","volume":"3","author":"Tauer","year":"2019","journal-title":"JBMR Plus"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"e558","DOI":"10.1097\/BPO.0000000000001333","article-title":"Olecranon Fractures in Pediatric Patients With Osteogenesis Imperfecta","volume":"39","author":"Tayne","year":"2019","journal-title":"J. Pediatr. Orthop."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"e347","DOI":"10.1097\/BPO.0000000000001763","article-title":"Problems, Complications, and Factors Predisposing to Failure of Fassier-Duval Rodding in Children With Osteogenesis Imperfecta: A Double-center Study","volume":"41","author":"Musielak","year":"2021","journal-title":"J. Pediatr. Orthop."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1097\/BPO.0000000000001513","article-title":"Fassier-Duval Rod Failure: Is It Related to Positioning in the Distal Epiphysis?","volume":"40","author":"Holmes","year":"2020","journal-title":"J. Pediatr. Orthop."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"e20.00031","DOI":"10.2106\/JBJS.OA.20.00031","article-title":"A Multicenter Study of Intramedullary Rodding in Osteogenesis Imperfecta","volume":"5","author":"Kruger","year":"2020","journal-title":"JB JS Open Access"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"e10416","DOI":"10.1002\/jbm4.10416","article-title":"A Baseline Measurement of Quality of Life in 322 Adults With Osteogenesis Imperfecta","volume":"4","author":"Gooijer","year":"2020","journal-title":"JBMR Plus"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"e17947","DOI":"10.2196\/17947","article-title":"Giving Children With Osteogenesis Imperfecta a Voice: Participatory Approach for the Development of the Interactive Assessment and Communication Tool Sisom OI","volume":"22","author":"Siedlikowski","year":"2020","journal-title":"J. Med. Internet Res."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1038\/s41436-019-0688-6","article-title":"Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta","volume":"22","author":"Murali","year":"2020","journal-title":"Genet. Med."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1186\/s13023-019-1004-x","article-title":"Assessing disease experience across the life span for individuals with osteogenesis imperfecta: Challenges and opportunities for patient-reported outcomes (PROs) measurement: A pilot study","volume":"14","author":"Tosi","year":"2019","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1007\/s00198-018-4690-7","article-title":"Incorporating the patient perspective in the study of rare bone disease: Insights from the osteogenesis imperfecta community","volume":"30","author":"Swezey","year":"2019","journal-title":"Osteoporos. Int."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1186\/s13023-021-01682-y","article-title":"A standard set of outcome measures for the comprehensive assessment of osteogenesis imperfecta","volume":"16","author":"Nijhuis","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1186\/s13023-021-02069-9","article-title":"Patients\u2019 priorities and expectations on an EU registry for rare bone and mineral conditions","volume":"16","author":"Javaid","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1007\/s11832-011-0341-7","article-title":"Fassier-Duval femoral rodding in children with osteogenesis imperfecta receiving bisphosphonates: Functional outcomes at one year","volume":"5","author":"Ruck","year":"2011","journal-title":"J. Child. Orthop."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1007\/s00431-020-03754-w","article-title":"Predicting ambulatory function at skeletal maturity in children with moderate to severe osteogenesis imperfecta","volume":"180","author":"Montpetit","year":"2021","journal-title":"Eur. J. Pediatr."}],"container-title":["Children"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2227-9067\/10\/8\/1345\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T20:25:40Z","timestamp":1760127940000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2227-9067\/10\/8\/1345"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,4]]},"references-count":22,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2023,8]]}},"alternative-id":["children10081345"],"URL":"https:\/\/doi.org\/10.3390\/children10081345","relation":{},"ISSN":["2227-9067"],"issn-type":[{"type":"electronic","value":"2227-9067"}],"subject":[],"published":{"date-parts":[[2023,8,4]]}}}