@article{303dcbde0aac4442960a1b522d579603,
title = "Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study",
abstract = "Hearing loss (HL) is an extra-skeletal manifestation of the connective tissue disorder osteogenesis imperfecta (OI). Systematic evaluation of the prevalence and characteristics of HL in COL1A1/COL1A2-related OI will contribute to a better clinical management of individuals with OI. We collected and analyzed pure-tone audiometry data from 312 individuals with OI who were enrolled in the Linked Clinical Research Centers and the Brittle Bone Disorders Consortium. The prevalence, type, and severity of HL in COL1A1/COL1A2-related OI are reported. We show that the prevalence of HL in OI is 28% and increased with age in Type I OI but not in Types III and IV. Individuals with OI Types III and IV are at a higher risk to develop HL in the first decade of life when compared to OI Type I. We also show that the prevalence of SNHL is higher in females with OI compared to males. This study reveals new insights regarding prevalence of HL in OI including a lower general prevalence of HL in COL1A1/COL1A2-related OI than previously reported (28.3 vs. 65%) and high prevalence of SNHL in females. Our data support the need in early routine hearing evaluation in all types of OI that can be adjusted to the severity of the skeletal disease.",
keywords = "Type I collagen, hearing loss, natural history study, osteogenesis imperfecta",
author = "{Members of the BBD Consortium} and Keren Machol and Hadley, {Trevor D.} and Jake Schmidt and David Cuthbertson and Henri Traboulsi and Silva, {Rodrigo C.} and Chloe Citron and Sobiah Khan and Kate Citron and Erin Carter and Kenneth Brookler and Shapiro, {Jay R.} and Steiner, {Robert D.} and Byers, {Peter H.} and Glorieux, {Francis H.} and Michaela Durigova and Peter Smith and Bober, {Michael B.} and Sutton, {Vernon R.} and Lee, {Brendan H.} and Nagamani, {Sandesh C.S.} and Cathleen Raggio",
note = "Funding Information: This work was supported by the BBDC (1U54AR068069‐0), a part of the NCATS' RDCRN. BBDC is funded through a collaboration between the ORDR of NCATS, NIAMS, NIDCR, and NICHD. The work was also supported by The Clinical Translational Core of BCM IDDRC (1U54HD083092) from the Eunice Kennedy Shriver NICHD. The BBDC is also supported by the OI Foundation. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH. This study was supported by the Shriners of North America and the Osteogenesis Imperfecta Foundation. TH was supported by Texas Department of Health Services. The authors acknowledge the contributions of the Members of the Brittle Bone Disease Consortium: David R Eyre PhD, Department of Orthopedic and Sports Medicine, University of Washington, Seattle, WA, USA; Deborah Krakow MD, Department of Orthopedic Surgery, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA; Laura Tosi MD, Bone Health Program, Children's National Health System, Washington, DC, USA; Eric S Orwoll MD; Frank Rauch MD, Shriner's Hospital for Children and McGill University, Montreal, QC, Canada. We acknowledge the clinical research teams: M. Mullins, A. Tran, S. Carter (BCM); V. Vensel, J. Christie, A. Hata (OHSU); L. Davey (A.I. duPont Hospital). Funding Information: This work was supported by the BBDC (1U54AR068069-0), a part of the NCATS' RDCRN. BBDC is funded through a collaboration between the ORDR of NCATS, NIAMS, NIDCR, and NICHD. The work was also supported by The Clinical Translational Core of BCM IDDRC (1U54HD083092) from the Eunice Kennedy Shriver NICHD. The BBDC is also supported by the OI Foundation. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH. This study was supported by the Shriners of North America and the Osteogenesis Imperfecta Foundation. TH was supported by Texas Department of Health Services. The authors acknowledge the contributions of the Members of the Brittle Bone Disease Consortium: David R Eyre PhD, Department of Orthopedic and Sports Medicine, University of Washington, Seattle, WA, USA; Deborah Krakow MD, Department of Orthopedic Surgery, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA; Laura Tosi MD, Bone Health Program, Children's National Health System, Washington, DC, USA; Eric S Orwoll MD; Frank Rauch MD, Shriner's Hospital for Children and McGill University, Montreal, QC, Canada. We acknowledge the clinical research teams: M. Mullins, A. Tran, S. Carter (BCM); V. Vensel, J. Christie, A. Hata (OHSU); L. Davey (A.I. duPont Hospital). Publisher Copyright: {\textcopyright} 2019 Wiley Periodicals, Inc.",
year = "2020",
month = apr,
day = "1",
doi = "10.1002/ajmg.a.61464",
language = "English (US)",
volume = "182",
pages = "697--704",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "4",
}