Initial report of the osteogenesis imperfecta adult natural history initiative

Initial report of the osteogenesis imperfecta adult natural history initiative

A better understanding of the natural history of osteogenesis imperfecta (OI) in adulthood should improve health care for patients with this rare condition. The Osteogenesis Imperfecta Foundation established the Adult Natural History Initiative (ANHI) in 2010 to give voice to the health concerns of...

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Bibliographic Details
Published in:Orphanet journal of rare diseases Vol. 10; no. 146; p. 146
Main Authors: Tosi, Laura L, Oetgen, Matthew E, Floor, Marianne K, Huber, Mary Beth, Kennelly, Ann M, McCarter, Robert J, Rak, Melanie F, Simmonds, Barbara J, Simpson, Melissa D, Tucker, Carole A, McKiernan, Fergus E
Format: Journal Article
Language:English
Published: England BioMed Central Ltd 14-11-2015
BioMed Central
Subjects:
Adolescent
Adult
Aged
Aged, 80 and over
Care and treatment
Diagnosis
Female
Forecasts and trends
Health aspects
Humans
Internet
Male
Medical research
Medical statistics
Middle Aged
Osteogenesis imperfecta
Osteogenesis Imperfecta - diagnosis
Osteogenesis Imperfecta - epidemiology
Quality of Life
Rare diseases
Research Report
Surveys and Questionnaires
Young Adult
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Summary:A better understanding of the natural history of osteogenesis imperfecta (OI) in adulthood should improve health care for patients with this rare condition. The Osteogenesis Imperfecta Foundation established the Adult Natural History Initiative (ANHI) in 2010 to give voice to the health concerns of the adult OI community and to begin to address existing knowledge gaps for this condition. Using a web-based platform, 959 adults with self-reported OI, representing a wide range of self-reported disease severity, reported symptoms and health conditions, estimated the impact of these concerns on present and future health-related quality of life (QoL) and completed a Patient-Reported Outcomes Measurement Information System (PROMIS®) survey of health issues. Adults with OI report lower general physical health status (p < .0001), exhibit a higher prevalence of auditory (58% of sample versus 2-16% of normalized population) and musculoskeletal (64% of sample versus 1-3% of normalized population) concerns than the general population, but report generally similar mental health status. Musculoskeletal, auditory, pulmonary, endocrine, and gastrointestinal issues are particular future health-related QoL concerns for these adults. Numerous other statistically significant differences exist among adults with OI as well as between adults with OI and the referent PROMIS® population, but the clinical significance of these differences is uncertain. Adults with OI report lower general health status but are otherwise more similar to the general population than might have been expected. While reassuring, further analysis of the extensive OI-ANHI databank should help identify areas of unique clinical concern and for future research. The OI-ANHI survey experience supports an internet-based strategy for successful patient-centered outcomes research in rare disease populations.
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ISSN:1750-1172
1750-1172
DOI:10.1186/s13023-015-0362-2