Health-related quality of life in individuals with osteogenesis imperfecta in the United States: a cross-sectional study.

BACKGROUND

Osteogenesis imperfecta (OI) is a group of connective tissue disorders characterized by bone fragility and frequent fractures. The purpose of this study was to better understand the mental health burden, physical functioning, and health-related quality of life (HRQoL) in adults with OI in order to improve long-term care for this patient population.

METHODS

26 individuals with OI were enrolled into this cross-sectional study at the Hospital for Special Surgery in New York, NY and completed all questionnaires, which included demographics, medical history, depression (PHQ-8), anxiety (GAD-7), pain catastrophizing (PCS), activities of daily living (HAQ-DI), grit (12-item Grit Scale), and HRQoL (SF-36 and PROMIS-29).

RESULTS

11.5% of participants reported clinically significant symptoms of depression (PHQ-8 score ≥10) and 7.8% reported clinically significant symptoms of anxiety (GAD-7 ≥ 10). A prior psychiatric illness was reported by 57.7%. There was no difference in the level of pain catastrophizing in our cohort compared the general U.S. population (p = 0.363). Compared to the general population, individuals with OI had higher scores on the HAQ-DI (p < 0.001). Individuals with OI also reported significantly higher levels of resilience on the Grit Scale compared to the general population (p < 0.001). Individuals with OI had significantly lower scores on both HRQoL measures in terms of physical functioning domains (p < 0.001), but no significant difference compared to the general population across mental health domains.

CONCLUSIONS

These findings suggest that individuals with OI may not necessarily experience a greater mental health burden compared to the general population despite lower scores in areas of physical functioning. We speculate this discrepancy between mental and physical health scores may be partially explained by their increased resilience. Altogether, a comprehensive approach to care that recognizes all aspects of living with OI, including pain, social functioning, and daily activities, is needed when caring for individuals with OI.