Endocrine Abstracts

JOINT1850

Introduction/Objectives: The healthcare journey of people with osteogenesis imperfecta (OI)—a rare genetic connective tissue disorder—is not completely understood. This study provides insights on self-reported healthcare experiences and barriers to care.

Materials and Methods: The IMPACT Survey, developed by the OI Federation Europe, the OI Foundation and an international steering committee of experts, explored the clinical, humanistic and economic impact of OI. The survey was fielded online from July–September 2021 and open to adults (aged ≥18 years) and adolescents (aged 12–17 years) with OI, caregivers (CGs; with or without OI) and other close relatives. This analysis presents self-reported findings from individuals with OI and CGs, who responded on behalf of their care recipients with OI: children (aged 0–11 years), adolescents (aged 12–17 years) and adults (aged ≥18 years). Data were analysed using Microsoft Excel.

Results: Among respondents with OI, 1, 440 were adults and 92 adolescents; CGs (n = 700) provided proxy data on 474 children, 171 adolescents and 118 adults with OI. Over 12 months, respondents reported visits to a wide range of healthcare professionals (HCPs; mean [standard deviation] visits 60. 0 [79. 4] children; 53. 9 [56. 5] adolescents; 40. 5 [78. 1] adults) including generalists, specialists and therapists. When asked about healthcare experiences, 41. 0% of adults and 15. 2% of adolescents felt unsupported in their transition from paediatric to adult care. CGs of children (85. 2%) and adolescents (86. 4%) reported worrying about their child’s future care transition. Most adults (69. 9%) felt they needed to coordinate their own care, and many (32. 7%) felt care was not continuous. CGs of adults (27. 0%), adolescents (21. 2%) and children (19. 4%) felt care was uncoordinated; CGs of adults (27. 0%), adolescents (11. 8%), and children (10. 1%) felt care was not continuous. Many adults (34. 7%) and adolescents (26. 1%) avoided healthcare. The most common reasons given were past trauma/negative experiences (62. 0%, adults; 58. 4% adolescents), HCPs being unfamiliar with OI (66. 6%, adults; 66. 7% adolescents) or fear (46. 0%, adults; 41. 6% adolescents). CGs who avoided seeking care for their care recipient (18. 8% children; 24. 6% adolescents; 24. 7% adults) indicated this was driven by past trauma/negative experiences (67. 2% children; 48. 3% adolescents; 66. 6% adults), ability to provide better care themselves (52. 5%, children; 41. 3% adolescents; 52. 3% adults) or HCPs being unfamiliar with OI (62. 3%, children; 75. 9% adolescents; 61. 9% adults).

Conclusion: The IMPACT Survey highlights the need for integration of multidisciplinary paediatric and adult care, and increased awareness of OI and healthcare barriers across all life stages.