title: Initial report of the osteogenesis imperfecta adult natural history initiative.
abstract: BACKGROUND
  A better understanding of the natural history of osteogenesis imperfecta (OI) in adulthood should improve health care for patients with this rare condition.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Division of Orthopedics and Sports Medicine, Children's National Health System, 111 Michigan Ave NW, Washington, DC, 20010, USA. Ltosi@cnmc.org.
authors.forename: Laura L
authors.initials: LL
authors.lastname: Tosi
authors.affiliation: Division of Orthopedics and Sports Medicine, Children's National Health System, 111 Michigan Ave NW, Washington, DC, 20010, USA. moetgen@childrensnational.org.
authors.forename: Matthew E
authors.initials: ME
authors.lastname: Oetgen
authors.affiliation: Division of Orthopedics and Sports Medicine, Children's National Health System, 111 Michigan Ave NW, Washington, DC, 20010, USA. mfloor@gmail.com.
authors.forename: Marianne K
authors.initials: MK
authors.lastname: Floor
authors.affiliation: Osteogenesis Imperfecta Foundation, Gaithersburg, MD, USA. mhuber@oif.org.
authors.forename: Mary Beth
authors.initials: MB
authors.lastname: Huber
authors.affiliation: Division of Orthopedics and Sports Medicine, Children's National Health System, 111 Michigan Ave NW, Washington, DC, 20010, USA. anniekennelly@gmail.com.
authors.forename: Ann M
authors.initials: AM
authors.lastname: Kennelly
authors.affiliation: Division of Orthopedics and Sports Medicine, Children's National Health System, 111 Michigan Ave NW, Washington, DC, 20010, USA. RMcCarte@childrensnational.org.
authors.forename: Robert J
authors.initials: RJ
authors.lastname: McCarter
authors.affiliation: Rehabilitation Institute of Chicago, Chicago, IL, USA. mrak@ric.org.
authors.forename: Melanie F
authors.initials: MF
authors.lastname: Rak
authors.affiliation: Osteogenesis Imperfecta Foundation, Gaithersburg, MD, USA. skltd@comcast.net.
authors.forename: Barbara J
authors.initials: BJ
authors.lastname: Simmonds
authors.affiliation: Morris Animal Foundation, Denver, CO, USA. msimpson@morrisanimalfoundation.org.
authors.forename: Melissa D
authors.initials: MD
authors.lastname: Simpson
authors.affiliation: Temple University, Philadelphia, PA, USA. carole.tucker@temple.edu.
authors.forename: Carole A
authors.initials: CA
authors.lastname: Tucker
authors.affiliation: Marshfield Clinic, Chippewa Falls, WI, USA. mckiernan.fergus@marshfieldclinic.org.
authors.forename: Fergus E
authors.initials: FE
authors.lastname: McKiernan
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D006801:Humans; D020407:Internet; D008297:Male; D008875:Middle Aged; D010013:Osteogenesis Imperfecta / Q000175:diagnosis* / Q000453:epidemiology*; D011788:Quality of Life; D058028:Research Report; D011795:Surveys and Questionnaires; D055815:Young Adult