ArticleOrphanet journal of rare diseases2015
Initial report of the osteogenesis imperfecta adult natural history initiative.
Article in Orphanet journal of rare diseases, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 2 of them syntheses that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
45 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Quality of life of pediatric and adult individuals with osteogenesis imperfecta: a meta-analysis.Orphanet journal of rare diseases · 2023Pooled it
- Systematic review of health related-quality of life in adults with osteogenesis imperfecta.Orphanet journal of rare diseases · 2023Pooled it
- Skin symptoms and their impact on quality-of-life in adults with osteogenesis imperfecta.Journal of the Endocrine Society · 2026Article
- Health-Related Quality of Life and Fatigue in Patients with Osteogenesis Imperfecta.Healthcare (Basel, Switzerland) · 2026Article
- Osteogenesis imperfecta: a registry-based study of the clinical symptoms of disease in a large cohort of Italian patients.Frontiers in endocrinology · 2026Article
- Clinical diagnosis and challenges in management of Osteogenesis Imperfecta in a resource-limited setting - A case report and review of literature.International journal of surgery case reports · 2025Article
- The IMPACT Survey: The Economic Impact of Caring for an Individual with Osteogenesis Imperfecta.Advances in therapy · 2025Article
- Health-related quality of life in individuals with osteogenesis imperfecta in the United States: a cross-sectional study.Orphanet journal of rare diseases · 2025Article
- Osteogenesis imperfecta and the family: A qualitative analysis of the experiences of family and caregivers.Families, systems & health : the journal of collaborative family healthcare · 2025Article
- Children and Adolescents with Mucopolysaccharidosis and Osteogenesis Imperfecta: The Dentistry on the Multiprofessional Team.Journal of personalized medicine · 2025Article
- Genetics and Bone Mineral Density Predict the Fractures in Adults With Osteogenesis Imperfecta: A Prospective Study.The Journal of clinical endocrinology and metabolism · 2025Article
- Article
- Resilience and coping: a qualitative analysis of cognitive and behavioral factors in adults with osteogenesis Imperfecta.Disability and rehabilitation · 2025Article
- A systematic literature review of the impact and measurement of mobility impairment in rare bone diseases.Therapeutic advances in musculoskeletal disease · 2025Review
- Optimising Health-Related Quality of Life in Children With Osteogenesis Imperfecta.Calcified tissue international · 2024Review
- The IMPACT Survey: the humanistic impact of osteogenesis imperfecta in adults.BMC public health · 2024Article
- Evaluation of the Nordic Musculoskeletal Questionnaire for Measuring Prevalence and the Consequence of Pain in a Danish Adult OI Population: A Pilot Study.Calcified tissue international · 2024Article
- Psychosocial Outcomes of Pain and Pain Management in Adults with Osteogenesis Imperfecta: A Qualitative Study.Journal of clinical psychology in medical settings · 2024Article
- The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers.Orphanet journal of rare diseases · 2024Article
- A qualitative exploration of patient perspectives on psychosocial burdens and positive factors in adults with osteogenesis imperfecta.American journal of medical genetics. Part A · 2023Article
Corrections and comments
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Authors and funding
11 authors.
Funding
Abstract
backgroundA better understanding of the natural history of osteogenesis imperfecta (OI) in adulthood should improve health care for patients with this rare condition.
methodsThe 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.
resultsAdults 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.
conclusionsAdults 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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