ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Mobility in osteogenesis imperfecta: a multicenter North American study.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- Do Bisphosphonates Alleviate Pain in Children? A Systematic Review.Current osteoporosis reports · 2020Pooled it
- Results and survival of Fassier-Duval rods in children with moderate Osteogenesis Imperfecta: a retrospective study in 36 casesRevista de la Facultad de Ciencias Medicas (Cordoba, Argentina) · 2026Article
- Osteogenesis imperfecta: a registry-based study of the clinical symptoms of disease in a large cohort of Italian patients.Frontiers in endocrinology · 2026Article
- Review
- A systematic literature review of the impact and measurement of mobility impairment in rare bone diseases.Therapeutic advances in musculoskeletal disease · 2025Review
- Skeletal and Non-skeletal Phenotypes in Children with Osteogenesis Imperfecta.Calcified tissue international · 2024Review
- The IMPACT Survey: the humanistic impact of osteogenesis imperfecta in adults.BMC public health · 2024Article
- Echocardiographic abnormalities and joint hypermobility in Chinese patients with Osteogenesis imperfecta.Orphanet journal of rare diseases · 2024Article
- Evaluation of functioning and associated factors in children and adolescents with osteogenesis imperfecta.Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo · 2024Article
- The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review.Orphanet journal of rare diseases · 2023Article
- A multicenter study to evaluate pain characteristics in osteogenesis imperfecta.American journal of medical genetics. Part A · 2023Observational
- Article
- Temporomandibular Joint and Cervical Spine Mobility Assessment in the Prevention of Temporomandibular Disorders in Children with Osteogenesis Imperfecta: A Pilot Study.International journal of environmental research and public health · 2021Article
- Predicting ambulatory function at skeletal maturity in children with moderate to severe osteogenesis imperfecta.European journal of pediatrics · 2021Article
- Physical function in UK adults with osteogenesis imperfecta: a cross-sectional analysis of the RUDY study.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2021Article
- Osteogenesis imperfecta: advancements in genetics and treatment.Current opinion in pediatrics · 2019Review
- Functional status of individuals with osteogenesis imperfecta: data from a reference center.Jornal de pediatriaObservational
- A Multicenter Study of Intramedullary Rodding in Osteogenesis Imperfecta.JB & JS open accessArticle
- Postural balance, handgrip strength and mobility in Brazilian children and adolescents with osteogenesis imperfecta.Jornal de pediatriaArticle
Corrections and comments
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Authors and funding
19 authors at 13 institutions in 2 countries.
Funding
Abstract
purposeOsteogenesis imperfecta (OI) is a genetic connective tissue disorder that causes bone fragility. Phenotypic severity influences ability to walk, however, little is known about ambulatory characteristics of individuals with OI, especially in more severe forms. The purpose of this work was to characterize mobility in OI using standard clinical assessment tools and determine if patient characteristics could be used to predict mobility outcomes.
methodsWe collected mobility data at five clinical sites to analyze the largest cohort of individuals with OI (n = 491) to date. Linear mixed models were developed to explore relationships among subject demographics and mobility metrics.
resultsResults showed minor limitations in the mild group while the more severe types showed more significant limitations in all mobility metrics analyzed. Height and weight were shown to be the most significant predictors of mobility. Relationships with mobility and bisphosphonates varied with OI type and type used (oral/IV).
conclusionThese results are significant to understanding mobility limitations of specific types of OI and beneficial when developing rehabilitation protocols for this population. It is important for physicians, patients, and caregivers to gain insight into severity and classification of the disease and the influence of disease-related characteristics on prognosis for mobility.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.