Gait analysis, clinical evaluation and patient-reported outcomes in individuals with osteogenesis imperfecta type I: a cross-sectional study

Osteogenesis Imperfecta (OI) is a rare genetic skeletal disorder caused by variants in collagen or bone-related genes, leading to bone fragility, skeletal deformities, muscle weakness, and joint laxity. These features frequently result in abnormal gait patterns, increased fall risk, and reduced quality of life. Instrumented gait analysis represents a valuable tool for quantitatively characterizing locomotor dysfunction. This study aimed to comprehensively evaluate clinical and functional outcomes in individuals with OI Type I, integrating clinical assessments, patient-reported outcomes, and instrumented gait analysis to identify disease-specific impairments and compensatory mechanisms. Twenty-seven individuals with OI Type I (16 F,11 M, age 32.9 ± 13.6 years, BMI 25.5 ± 5.3 kg/m 2 ) participated in the study. Clinical evaluation assessed skeletal deformities, fractures, surgical interventions, and extra-skeletal features. Health-related quality of life and balance confidence were measured using validated questionnaires. Gait analysis was performed using an optoelectronic system to collect spatiotemporal parameters and lower limb joint kinematics. Twenty healthy individuals served as controls. Between-group differences were assessed using the Mann–Whitney test and statistical parametric mapping for time-dependent analysis. Correlations between spatiotemporal parameters and patient-reported outcomes were also evaluated. The cohort was representative of the clinical manifestations of OI Type I, considering skeletal and extra-skeletal features. Patient-reported outcomes indicated reduced health-related quality of life, with younger participants reporting better perceived health. The main spatiotemporal parameters differed significantly from controls, and normalized stride length was correlated with patient-reported outcomes ( p < 0.05). Sagittal knee ROM and ankle dorsiflexion during stance and late swing were significantly reduced in OI individuals. Pelvic and hip rotations showed subtle phase-specific differences, while gait symmetry was preserved. Patient-reported outcomes showed reduced quality of life and balance confidence, especially in older individuals, highlighting the broader functional impact beyond gait impairment. Individuals with OI Type I exhibit altered spatiotemporal and kinematic gait patterns, while maintaining symmetry. Global and time-dependent analyses enabled identification of gait deviations and compensatory strategies. These findings provide a preliminary characterization of gait alterations in OI and promote further investigation of gait analysis to better define its relevance in clinical management and potential applicability as an objective measure of functional outcomes in this population. The study was registered on clinicaltrials.gov, ID: NCT06193642.