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 remai...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2024-03-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-024-03126-9 |
| _version_ | 1797246989054771200 |
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| author | Ingunn Westerheim Tracy Hart Taco van Welzenis Lena Lande Wekre Oliver Semler Cathleen Raggio Michael B. Bober Maria Rapoport Samantha Prince Frank Rauch |
| author_facet | Ingunn Westerheim Tracy Hart Taco van Welzenis Lena Lande Wekre Oliver Semler Cathleen Raggio Michael B. Bober Maria Rapoport Samantha Prince Frank Rauch |
| author_sort | Ingunn Westerheim |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-24T19:51:33Z |
| format | Article |
| id | doaj.art-48bbeb81bbf247809910592e5df103b2 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-04-24T19:51:33Z |
| publishDate | 2024-03-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-48bbeb81bbf247809910592e5df103b22024-03-24T12:33:43ZengBMCOrphanet Journal of Rare Diseases1750-11722024-03-0119112110.1186/s13023-024-03126-9The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregiversIngunn Westerheim0Tracy Hart1Taco van Welzenis2Lena Lande Wekre3Oliver Semler4Cathleen Raggio5Michael B. Bober6Maria Rapoport7Samantha Prince8Frank Rauch9Osteogenesis Imperfecta Federation EuropeOsteogenesis Imperfecta FoundationOsteogenesis Imperfecta Federation EuropeTRS National Resource Center for Rare Disorders, Sunnaas Rehabilitation HospitalUniversity of CologneHospital for Special SurgeryAlfred I. duPont HospitalWickenstones Ltd.Wickenstones Ltd.McGill UniversityAbstract 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.https://doi.org/10.1186/s13023-024-03126-9Osteogenesis imperfectaPatient reported outcomesSurveyBurden of diseaseChildrenAdults |
| spellingShingle | Ingunn Westerheim Tracy Hart Taco van Welzenis Lena Lande Wekre Oliver Semler Cathleen Raggio Michael B. Bober Maria Rapoport Samantha Prince Frank Rauch The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers Orphanet Journal of Rare Diseases Osteogenesis imperfecta Patient reported outcomes Survey Burden of disease Children Adults |
| title | The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers |
| title_full | The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers |
| title_fullStr | The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers |
| title_full_unstemmed | The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers |
| title_short | The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers |
| title_sort | impact survey a mixed methods study to understand the experience of children adolescents and adults with osteogenesis imperfecta and their caregivers |
| topic | Osteogenesis imperfecta Patient reported outcomes Survey Burden of disease Children Adults |
| url | https://doi.org/10.1186/s13023-024-03126-9 |
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