SFEIES24 Oral Poster Presentations Oral Posters 4 - Endocrinology 2 (4 abstracts)
Bone fragility and beyond: prevalence and impact of clinical signs, symptoms, and events in children with osteogenesis imperfecta
Oliver Semler 1 , Lena Lande Wekre 2 , Cathleen Raggio 3 , Ingunn Westerheim 4 , Tracy Hart 5 , Taco van Welzenis 4 , Heather Mulhall 6 , Laetitia Dewavrin 6 , Samantha Prince 6 & Frank Rauch 7
1University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Pediatrics, Cologne, Germany; 2TRS National Resource Center for Rare Disorders, Sunnaas Rehabilitation Hospital, Nesodden, Norway; 3Hospital for Special Surgery, New York, USA; 4Osteogenesis Imperfecta Federation Europe, Heffen, Belgium; 5Osteogenesis Imperfecta Foundation, Gaithersburg, USA; 6Wickenstones Ltd, Oxford, United Kingdom; 7McGill University, Montreal, Canada
Objectives: The IMPACT Survey explored self- and proxy-reported experiences of the clinical, humanistic, and economic impact of osteogenesis imperfecta (OI), a rare hereditary connective tissue disorder associated with low bone mass, bone fragility and variable secondary features. While the risk of fractures in children with OI has been well documented in previous studies, this analysis explores the prevalence and impact of OI-related clinical signs, symptoms and events (SSEs) beyond bone fragility.
Methods: An international survey in eight languages (fielded online July–September 2021) was developed with the Osteogenesis Imperfecta Federation Europe and the Osteogenesis Imperfecta Foundation (USA). The survey was open to adults (aged ≥18 years) or adolescents (aged ≥12–17 years) with OI, caregivers (CGs) with or without OI, of individuals with OI, and other close relatives; overall 2,208 individuals participated. Data were cleaned, coded, and analysed using Microsoft Excel.
Results: CGs without OI responded on behalf of 325 children with OI (aged 0–11, mean age 5.6 years, 42% female). The children’s OI was described as mild (23%), moderate (51%) or severe (24%); type 1 (24%), 3 (27%) and 4 (14%) were most common. Over a 12-month period, the most frequently reported clinical SSEs were pain (n = 231, 71%), ranked as moderately or severely impactful by 51% of children, fractures (n = 220, 68%) which moderately or severely impacted 57%, and fatigue (n = 153, 47%), which moderately or severely impacted 27%. Certain SSEs were less prevalent, but commonly moderately or severely impactful for those who experienced them, for example, sleep disturbance (n = 63, 75%) and mental health problems (n = 72, 74%). The impact of clinical SSEs varied depending on the demographics and clinical characteristics of children, such as OI severity, OI type and sex.
Conclusion: Children with OI often experience debilitating fractures and other OI-related SSEs which have a substantial impact on their lives.
Article tools
My recent searches
My recently viewed abstracts
Authors
Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more