Abstract

Background: Osteogenesis Imperfecta (OI) is a rare genetic disorder characterised by fragile bones. Clinical presentation includes multiple health issues which impact on quality of life. There is no published data on what adults with OI perceive their therapy needs to be.
Objective: This study aims to explore the therapy needs of adults with OI.
Methods: A convenience sample of adults were recruited from a multidisciplinary OI clinic. Participants were split into two groups based on their clinical classification. Semi-structured questions were asked focusing on perceived needs for therapy. Thematic analysis identified common themes from the data.
Result: Eleven participants were allocated to two focus groups, ages ranged from 27-68 years. The discussions from both groups elicited similar interconnecting themes of 1) knowledge and expertise, 2) confidence in healthcare services, 3) access to healthcare and community services. There was consensus that therapy was required for adults with OI and treatment was not only for fractures. However, participants valued continuity of care with healthcare professionals who understood OI and where this wasn’t available dissatisfaction with healthcare was identified. Therapy included multiple disciplines reflecting the participants’ wide-ranging needs which reflected a bio-psycho-social framework.
Conclusion: The results reflect the life-long nature of OI and its impact on quality of life. Participants felt a holistic approach to treatment was the most beneficial due to the complexity and variability of OI. Impact statement: This study demonstrates a need for specialist multidisciplinary services to be commissioned for adults with OI.

Keywords:Osteogenesis imperfecta; Multidisciplinary team; Therapy; Quality of life; Physiotherapy; Occupational therapy; Psychology