Kathryn O. and Alan C. Greenberg Center for Skeletal Dysplasias, Hospital for Special Surgery, New York, NY, USA.
Division of Pulmonary, Critical Care, and Sleep Medicine, National Jewish Health, 1400 Jackson Street, Denver, CO, 80206, USA.
Arch Osteoporos. 2020 Oct 2;15(1):153. doi: 10.1007/s11657-020-00818-0.
Respiratory insufficiency is the leading cause death in people with osteogenesis imperfecta (OI). Adults with OI reported that respiratory symptoms negatively impacted psychosocial wellbeing and limited daily physical activities, irrespective of OI type, age, stature, or scoliosis. The impact of respiratory status on quality of life in this population warrants further investigation.
Respiratory insufficiency is the leading cause of mortality in osteogenesis imperfecta (OI), a heterogeneous group of heritable connective tissue disorders characterized by fractures, bone fragility, and scoliosis. There is little research on how respiratory health influences daily life in this population. This study explores the relationship between respiratory function and quality of life in adults with OI.
One hundred fifty-seven adults with OI completed the St. George's Respiratory Questionnaire (SGRQ) and provided demographic and health information through REDCap. SGRQ scores were compared to reference scores for the general population, and comparisons were made between OI type, presence of scoliosis, stature, and other factors such as age or comorbidities.
Average age was 45.87 years (range 19-81). Respondents scored worse on average (32 ± 23) than the normative data (6 ± 1). Those with type I OI scored better than those with type IV (p = 0.002) or type III (p = 0.024). Total scores correlated with age, activity level, assistive device use, and presence of pulmonary or cardiac comorbidities but did not correlate with stature or degree of scoliosis.
Respiratory symptoms negatively impact both psychosocial wellbeing in the OI population and limit daily physical activity. These limitations occur irrespective of their OI type, age, stature, or scoliosis and reflect the dramatic impact of respiratory status on quality of life for people with OI. Future studies should examine the etiology of respiratory insufficiency in this population so guidelines for management can be established.
呼吸功能不全是成骨不全症（OI）患者死亡的主要原因。OI 患者报告称，呼吸症状对他们的社会心理幸福感产生负面影响，并限制了日常体力活动，无论 OI 类型、年龄、身高或脊柱侧凸如何。因此，有必要进一步研究呼吸状况对该人群生活质量的影响。
呼吸功能不全是成骨不全症（OI）患者死亡的主要原因，OI 是一种遗传性结缔组织疾病，其特征为骨折、骨骼脆弱和脊柱侧凸。关于呼吸健康如何影响该人群的日常生活，相关研究较少。本研究探讨了 OI 成人的呼吸功能与生活质量之间的关系。
157 名 OI 成人完成了圣乔治呼吸问卷（SGRQ），并通过 REDCap 提供了人口统计学和健康信息。将 SGRQ 评分与普通人群的参考评分进行比较，并比较了 OI 类型、脊柱侧凸、身高以及年龄或合并症等其他因素之间的差异。
平均年龄为 45.87 岁（范围 19-81 岁）。患者的平均评分（32 ± 23）低于正常参考值（6 ± 1）。OI 类型 I 的患者评分优于 OI 类型 IV（p = 0.002）或 OI 类型 III（p = 0.024）。总评分与年龄、活动水平、辅助设备使用以及肺部或心脏合并症的存在相关，但与身高或脊柱侧凸程度无关。
呼吸症状不仅对 OI 患者的社会心理幸福感产生负面影响，还限制了他们的日常体力活动。这些限制与 OI 类型、年龄、身高或脊柱侧凸无关，反映了呼吸状况对 OI 患者生活质量的巨大影响。未来的研究应该研究该人群呼吸功能不全的病因，以便制定管理指南。
