TY - JOUR
T1 - Growth characteristics in individuals with osteogenesis imperfecta in North America
T2 - results from a multicenter study
AU - Members of the Brittle Bone Disorders Consortium
AU - Jain, Mahim
AU - Tam, Allison
AU - Shapiro, Jay
AU - Steiner, Robert D.
AU - Smith, Peter A.
AU - Bober, Michael B.
AU - Hart, Tracy
AU - Cuthbertson, David
AU - Krischer, Jeff
AU - Mullins, Mary
AU - Bellur, Sunil
AU - Byers, Peter H.
AU - Pepin, Melanie
AU - Durigova, Michaela
AU - Glorieux, Francis H.
AU - Rauch, Frank
AU - Lee, Brendan
AU - Sutton, V. Reid
AU - Eyre, David R.
AU - Krakow, Deborah
AU - Tosi, Laura
AU - Raggio, Cathleen L.
AU - Orwoll, Eric S.
AU - Rush, Eric T.
AU - Nagamani, Sandesh C.S.
N1 - Funding Information:
This work was supported by the BBDC (1U54AR068069-0), a part of the National Center for Advancing Translational Sciences’ Rare Diseases Clinical Research Network. BBDC is funded through a collaboration between the Office of Rare Diseases Research of the National Center for Advancing Translational Sciences, National Institute of Arthritis and Musculoskeletal and Skin Diseases, and National Institute of Dental and Craniofacial Research. The content of this paper is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. The BBDC is also supported by the Osteogenesis Imperfecta Foundation. This work was supported by the Clinical Translational Core of the Baylor College of Medicine Intellectual and Developmental Disabilities Research Center (1U54HD083092) from the Eunice Kennedy Shriver National Institute of Child Health and Human Development. S.B. was supported by the Texas Department of Health Services. M.J. and A.T. were supported by T32GM07526-40. This work was supported by the Doris Duke Charitable Foundation (grant 2013095 to S.C.S.N.). We acknowledge the clinical research teams: M. Mullins, A. Tran, and S. Carter (Baylor College of Medicine), V. Vensel, J. Christie, and A. Hata (Oregon Health and Science University), M. Durigova (Shriners Hospital for Children), and L. Davey (Alfred I. duPont Hospital for Children). The authors acknowledge the contributions of the members of the BBDC: David R. Eyre, PhD, Department of Orthopedic and Sports Medicine, University of Washington, Seattle, Washington, USA; Deborah Krakow, MD, Department of Orthopedic Surgery, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA; Laura Tosi, MD, Bone Health Program, Children’s National Health System, Washington, DC, USA; Cathleen L. Raggio, MD, Hospital for Special Surgery, New York, USA; Eric S. Orwoll, MD, Department of Medicine, Division of Endocrinology, Oregon Health Sciences University, Portland, Oregon, USA; and Eric T. Rush, MD, University of Nebraska Medical Center, Omaha, Nebraska, USA.
Publisher Copyright:
© 2018, American College of Medical Genetics and Genomics.
PY - 2019/2/1
Y1 - 2019/2/1
N2 - Purpose: Osteogenesis imperfecta (OI) predisposes people to recurrent fractures, bone deformities, and short stature. There is a lack of large-scale systematic studies that have investigated growth parameters in OI. Methods: Using data from the Linked Clinical Research Centers, we compared height, growth velocity, weight, and body mass index (BMI) in 552 individuals with OI. Height, weight, and BMI were plotted on Centers for Disease Control and Prevention normative curves. Results: In children, the median z-scores for height in OI types I, III, and IV were −0.66, −6.91, and −2.79, respectively. Growth velocity was diminished in OI types III and IV. The median z-score for weight in children with OI type III was −4.55. The median z-scores for BMI in children with OI types I, III, and IV were 0.10, 0.91, and 0.67, respectively. Generalized linear model analyses demonstrated that the height z-score was positively correlated with the severity of the OI subtype (P < 0.001), age, bisphosphonate use, and rodding (P < 0.05). Conclusion: From the largest cohort of individuals with OI, we provide median values for height, weight, and BMI z-scores that can aid the evaluation of overall growth in the clinic setting. This study is an important first step in the generation of OI-specific growth curves.
AB - Purpose: Osteogenesis imperfecta (OI) predisposes people to recurrent fractures, bone deformities, and short stature. There is a lack of large-scale systematic studies that have investigated growth parameters in OI. Methods: Using data from the Linked Clinical Research Centers, we compared height, growth velocity, weight, and body mass index (BMI) in 552 individuals with OI. Height, weight, and BMI were plotted on Centers for Disease Control and Prevention normative curves. Results: In children, the median z-scores for height in OI types I, III, and IV were −0.66, −6.91, and −2.79, respectively. Growth velocity was diminished in OI types III and IV. The median z-score for weight in children with OI type III was −4.55. The median z-scores for BMI in children with OI types I, III, and IV were 0.10, 0.91, and 0.67, respectively. Generalized linear model analyses demonstrated that the height z-score was positively correlated with the severity of the OI subtype (P < 0.001), age, bisphosphonate use, and rodding (P < 0.05). Conclusion: From the largest cohort of individuals with OI, we provide median values for height, weight, and BMI z-scores that can aid the evaluation of overall growth in the clinic setting. This study is an important first step in the generation of OI-specific growth curves.
KW - Growth
KW - Height
KW - Natural history study
KW - Osteogenesis imperfecta
KW - Weight
UR - http://www.scopus.com/inward/record.url?scp=85049515167&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85049515167&partnerID=8YFLogxK
U2 - 10.1038/s41436-018-0045-1
DO - 10.1038/s41436-018-0045-1
M3 - Article
C2 - 29970925
AN - SCOPUS:85049515167
SN - 1098-3600
VL - 21
SP - 275
EP - 283
JO - Genetics in Medicine
JF - Genetics in Medicine
IS - 2
ER -