Faculty Collaboration Database

Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study. Am J Med Genet A 2020 Apr;182(4):697-704

Date

12/27/2019

Pubmed ID

31876392

Pubmed Central ID

PMC7385724

DOI

10.1002/ajmg.a.61464

Scopus ID

2-s2.0-85077150126 (requires institutional sign-in at Scopus site)   30 Citations

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.

Author List

Machol K, Hadley TD, Schmidt J, Cuthbertson D, Traboulsi H, Silva RC, Citron C, Khan S, Citron K, Carter E, Brookler K, Shapiro JR, Steiner RD, Byers PH, Glorieux FH, Durigova M, Smith P, Bober MB, Sutton VR, Lee BH, Members of the BBD Consortium, Nagamani SCS, Raggio C

Author

Gerald Harris PhD Director in the Orthopaedic Research Engineering Center (OREC) department at Marquette University

MESH terms used to index this publication - Major topics in bold

Adolescent
Adult
Child
Collagen Type I
Female
Genotype
Hearing Loss
Humans
Male
Middle Aged
Mutation
North America
Osteogenesis Imperfecta
Phenotype
Young Adult