Scoliosis in osteogenesis imperfecta - quality of life and surgical impact

Abstract

Introduction: Spinal deformity is prevalent among osteogenesis imperfecta (OI) patients, but little is known about the impact of scoliosis and treatment on quality of life. Methods: OI patients were invited for quality of life assessment through validated questionnaires (SRS-22 and EQ-5D-5L), with scoliosis severity and treatment assessed. Patients without a confirmed diagnosis of OI or without radiographic assessment of spinal deformities were excluded. Results: 148 OI patients - 101 with scoliosis (M=60, F=41, mean age 16.5 years) and 47 without scoliosis were analysed. The scoliosis group had lower self-image (3.31 vs 3.70, p=0.003) and mobility (3.13 vs 3.66, p=0.015). The median Cobb angle for the primary curve was 34.5°, with elder patients having greater curves (σ=0.544, p<0.001). Curve magnitude was associated with pain (σ=-0.355, p<0.001) and anxiety (σ=-0.352 p<0.001), but inversely correlated with function (σ=-0.225, p=0.024), self-image (σ=-0.379, p<0.001), and total SRS score (σ=-0.283, p=0.004). 11.9% OI patients with scoliosis underwent scoliosis surgery, 13.9% underwent bracing (with 18.2% compliance of brace wear >20hours per day), and 41.6% underwent physiotherapy. Patients treated operatively reported higher treatment satisfaction scores (4.41 vs 3.43, p=0.002) than patients with scoliosis of Cobb angle over 50 without receiving treatment, despite similar curve magnitudes (p=0.354). Conclusion: OI patients with scoliosis reported lower self-image and mobility. Curve magnitude was associated with older age, pain and anxiety, and was inversely correlated with function, self-image, and total SRS score. Patients who received surgery reported higher treatment satisfaction than those managed nonoperatively.