Bone Abstracts

Objectives: Respiratory insufficiency is the leading cause of mortality for individuals diagnosed with Osteogenesis Imperfecta (OI), a skeletal dysplasia clinically characterized by fractures, bone fragility, and scoliosis. The objective of this study is to explore respiratory function and its relation to quality of life, type of OI, presence of scoliosis, stature, and other factors such as age or co-existing co-morbidities.

Methods: Adults with OI completed the SGRQ and provided information through REDCap, including demographics, stature, scoliosis, activity level, and cardiopulmonary comorbidities. Univariate analyses (chi-squared tests, t-tests) and bivariate correlation analyses (Spearman’s rho correlation coefficient, point-biserial correlation analysis (P<0.05)) were made.

Results: One hundred and fifty-seven adults (108 F, 47 M, 2 FTM) with OI participated. Average age was 45.87±15.51 years. 36% reported having type 1, 25% type 3, 21% type 4, 2% type 5, 2% recessive types, 3% type 3/4, 1% type 1/4, <1% type 4/5, and 10% with type unknown. 80% reported short stature. 79% reported scoliosis. 41% reported pulmonary comorbidities (asthma, sleep apnea, COPD). 24% reported cardiac comorbidities (hypertension, tachycardia, MVP). Adults with OI scored higher (worse) on average (32±23) than the reference population (6±1). Those with mild type 1 OI scored better than those with moderate type 4 (P=0.002) or severe type 3 (P=0.024). SGRQ scores correlated with age (R=0.175, P=0.028), activity level (R=-0.248, P=0.002), assistive device use (R=0.280, P<.001), and presence of pulmonary (R=0.475, P<0.001) or cardiac comorbidities (R=0.232, P<0.001). There was no correlation with stature or scoliosis, and no sexual dimorphism.

Conclusion: Adults with all types of OI scored higher on the Q17RQ compared to the average population, indicating that social and psychological wellbeing in the OI population is negatively impacted by the higher frequency and severity of respiratory symptoms and resultant activity limitations. People with all types of OI are impacted by their respiratory health independent of cardiopulmonary comorbidities, scoliosis, or stature.

Disclosure: Advisory Board or Panel. Alexion - Speaker’s Bureau. Ascendis - Advisory Board or Panel.