Initial report of the osteogenesis imperfecta adult natural history initiative

• DOI: 10.1186/s13023-015-0362-2
• Publication Date: 2015-11-14T06:26:17Z
• Authors: Laura L. Tosi; Matthew E. Oetgen; Marianne K. Floor; Mary Beth Huber; Ann M. Kennelly; Robert J. McCarter; Melanie F. Rak; Barbara J. Simmonds; Melissa D. Simpson; Carole A. Tucker; Fergus E. McKiernan
• Keywords: Medicine(all); Adult; Aged, 80 and over; Male; Research Report; Internet; Adolescent; Research; Middle Aged; Osteogenesis Imperfecta; 3. Good health; Young Adult; 03 medical and health sciences; 0302 clinical medicine; Surveys and Questionnaires; Quality of Life; Humans; Genetics(clinical); Pharmacology (medical); Female; Aged

A better understanding of the natural history osteogenesis imperfecta (OI) in adulthood should improve health care for patients with this rare condition. The Osteogenesis Imperfecta Foundation established Adult Natural History Initiative (ANHI) 2010 to give voice concerns adult OI community and begin address existing knowledge gaps Using a web-based platform, 959 adults self-reported OI, representing wide range disease severity, reported symptoms conditions, estimated impact these on present future health-related quality life (QoL) completed Patient-Reported Outcomes Measurement Information System (PROMIS®) survey issues. Adults report lower general physical status (p < .0001), exhibit higher prevalence auditory (58 % sample versus 2–16 normalized population) musculoskeletal (64 1–3 than population, but generally similar mental status. Musculoskeletal, auditory, pulmonary, endocrine, gastrointestinal issues are particular QoL adults. Numerous other statistically significant differences exist among as well between referent PROMIS® clinical significance is uncertain. otherwise more population might have been expected. While reassuring, further analysis extensive OI-ANHI databank help identify areas unique concern research. experience supports an internet-based strategy successful patient-centered outcomes research populations.