Flanagan Jill, Tosi Laura, Carter Erika, Hart Tracy, Franzone Jeanne, Wallace Maegen
Department of Orthopaedic Surgery, Children's Healthcare of Atlanta, Atlanta, GA 30329, USA.
Department of Orthopaedic Surgery, Children's National, Washington, DC 20001, USA.
Children (Basel). 2023 Aug 4;10(8):1345. doi: 10.3390/children10081345.
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 <5 years was too young, 13.4% <4 years was too young, and 48.8% <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.
成骨不全症（OI）是一种罕见的I型胶原蛋白基因紊乱疾病，其特征为骨折、骨骼脆弱和畸形。目前的治疗重点是降低骨折率、提高骨强度以及改善整体功能。最近的研究主要集中在骨折固定和长骨髓内棒植入的效果上。虽然手术技术不断发展，但OI研究的最新趋势正聚焦于患者的生活质量和患者报告的结果。我们创建了一项包含12个问题的调查，以获取有关OI患者及其家庭认为最迫切需要改善的骨科护理方面的信息。该调查通过电子方式进行，共有341人参与。在回答年龄问题的受访者中，共有75%（254/335）为成年人。关于长骨的手术干预，只有16%的受访者记得曾被告知因年龄太小而无法进行手术。在这16%的受访者中，37.8%被告知5岁以下太小，13.4%被告知4岁以下太小，48.8%被告知3岁以下因骨折或畸形进行手术干预太小。近22%的受访者被告知其骨骼太小无法进行髓内固定。患者及其家庭的回答有助于阐明改善OI骨科护理所需关注的主题。患者的担忧和见解应推动我们提出研究问题，以推进OI患者的骨科护理。
