The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers

Abstract

Background Osteogenesis imperfecta (OI) is a rare, heritable connective tissue disorder associated with a variety of symptoms, that affect individuals’ quality of life (QoL) and can be associated with increased healthcare resource use. While some aspects of OI are well studied, others remain poorly understood. Therefore, the IMPACT survey aimed to elucidate the humanistic, clinical and economic burden of OI on individuals with OI, their families, caregivers and wider society. Methods We developed an international mixed methods online survey in eight languages (fielded July–September 2021), aimed at adults (aged ≥ 18 years) or adolescents (aged ≥ 12–17 years) with OI, caregivers (with or without OI) of individuals with OI and other close relatives. All respondents provided data on themselves; caregivers additionally provided data on individuals in their care by proxy. Data were cleaned, coded, and analysed using the pandas Python software package and Excel. Results IMPACT collected 2208 eligible questionnaires (covering 2988 individuals of whom 2312 had OI) including 1290 non-caregiver adults with OI, 92 adolescents with OI, 150 caregiver adults with OI, 560 caregivers for individuals with OI, 116 close relatives and 780 proxy care-recipients with OI. Most individuals with OI (direct or proxy) described their OI as moderate (41–52% across populations) and reported OI type 1 (33–38%). Pain (72–82%) was the most reported clinical condition experienced in the past 12 months and was also most frequently rated as severely or moderately impactful. Further, among adults, 67% reported fatigue, 47% scoliosis, and 46% sleep disturbance; in adolescents, fatigue affected 65%, scoliosis and other bone problems 60%, and mental health problems 46%; in children, fractures were common in 67%, fatigue in 47%, and dental problems in 46%. Conclusion IMPACT has generated an extensive dataset on the experience of individuals with OI, their caregivers and relatives. We found that, irrespective of age, individuals with OI experience numerous and evolving symptoms that affect their QoL; however, pain and fatigue are consistently present. Upcoming analyses will provide further insights into the economic impact, healthcare journey and caregiver wellbeing, aiming to contribute to improved treatment and care for the OI community.

The IMPACT Survey: the economic impact of osteogenesis imperfecta in adults

“…Similarly, the majority of adults reported clinical OI type 1 (38%), 3 (16%) and 4 (11%) (Table 1 ; [ 23 ]). Examining the relationship between clinical OI type and self-reported OI severity revealed a broad alignment (Appendix Tables 4 and 5; [ 23 ]). Further details, including a breakdown by geographic region and employment status, are reported in Appendix Tables 4 and 5.…”

“… Abbreviation : OI Osteogenesis imperfecta a Also reported in Westerheim et al [ 23 ] b Question 8 “What is your sex?” c Question 1 “What is your age?” d Question 7 “What is your country of residence?” e Question 18 “How would you describe the severity of your OI?” f Question 17 “If you have received an OI type as part of your OI diagnosis or treatment, please indicate your type using the dropdown below” g Question 9 and 10 “Please indicate which of the following best describe you/What is your current paid employment status?” h ‘Other’ includes respondents who were in paid full-time internships or paid jobs but were not working at the time due to a leave of absence …”

“…Translations were localised with the help of PAO members from relevant geographies who advised on regionally relevant answer options and question wording. For more information on the development, design and fielding of IMPACT, please refer to Westerheim et al [ 23 ].…”

“…Survey domains included demographics, socioeconomic factors, clinical characteristics, treatment patterns, quality of life and health economics [ 23 ]. For adults, the health economic domain asked about healthcare resource use over the past 12 months and throughout their lifetime.…”

“…However, none explored expenses linked to co-payments (fixed, predetermined costs that individuals pay for specific medical services or prescription drugs as part of their health insurance coverage) or home modifications. The IMPACT Survey was conducted to better understand the economic, as well as the humanistic and clinical, impact of OI on individuals and wider society [ 23 ]. Here, we describe the cost of illness associated with OI in adults and identify independent drivers and associations with respondent characteristics.…”