ICCBH2013 Poster Presentations (1) (201 abstracts)
Beyond brittle bones: a preliminary report from the osteogenesis imperfecta adult natural history initiative
Laura Tosi 1 , Fergus McKiernan 2 , Matthew Oetgen 1 , Melanie Rak 3 , Carole Tucker 4 , Kyle Mulroy 5 , Barbara Simmonds 5 , Angela Mancuso 5 , Ann Kennelly 1 , Lauren Greco 1 , Winslow Blankenship 1 , Marianne Floor 1 , Mary Beth Huber 5 & Tracy Hart 5
1Children’s National Medical Center, Washington, District of Columbia, USA; 2Marhfield Clinic, Eau Claire, Wisconsin, USA; 3Rehabilitation Institute of Chicago, Illinois, USA; 4Temple University, Philadelphia, Pennsylvania, USA; 5Osteogenesis Imperfecta Foundation, Washington, District of Columbia, USA.
Background: Osteogenesis imperfecta (OI) is a heterogeneous, rare disorder most commonly affecting type I collagen. The OI Adult Natural History Initiative (OI ANHI) was established following a 2010 Ostegenesis Imperfecta Foundation (OIF) national meeting at which patient participants noted that i) there is little information about the natural history and progression of OI beyond childhood, and ii) most of the data available are focused on musculoskeletal issues. Adults with OI face the possibility of complications in nearly every organ system in the body, and yet there is little information about the extent of these complications.
Presenting problem: Although the cardinal manifestation of OI is bone fragility, the clinical picture includes impaired dentition, joint laxity, hearing loss, cardiopulmonary problems, etc. While the literature offers a range of case studies, the low prevalence of OI means that few papers offer a full picture of these complications. The OIF and members of the medical community, in collaboration with adults with OI, created the OI ANHI to address this gap.
Clinical management: The OI ANHI established a web-based portal within the existing OIF website to create a cost-effective outreach and data management clearinghouse to survey the OI community and capture a first-ever ‘snapshot’ of the health status, needs, and priorities of adults with OI. The survey included questions on general health concerns and health behaviors plus a review of systems, with scale-based rankings of respondents’ priorities, concerns, and impacts of common impairments and conditions within each medical system.
Conclusions: More than 950 individuals completed the ANHI survey. Over 93% of respondents completed the survey on the web. The OI ANHI survey identified numerous opportunities for future research. As our next step, we plan to pilot a system-specific health module to determine whether a patient reported outcomes tool can measure discernible differences in pulmonary function in individuals with OI. The marked heterogeneity of OI also demands a clearer methodology for stratifying patients; therefore we plan to use survey measures to explore the development of a new classification/stratification system for OI. It will be essential to recruit more men and minorities in future surveys.
Article tools
My recent searches
My recently viewed abstracts
Authors
Bone Abstracts
ISSN 2052-1219 (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