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Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study.
Machol, Keren; Hadley, Trevor D; Schmidt, Jake; Cuthbertson, David; Traboulsi, Henri; Silva, Rodrigo C; Citron, Chloe; Khan, Sobiah; Citron, Kate; Carter, Erin; Brookler, Kenneth; Shapiro, Jay R; Steiner, Robert D; Byers, Peter H; Glorieux, Francis H; Durigova, Michaela; Smith, Peter; Bober, Michael B; Sutton, Vernon R; Lee, Brendan H; Nagamani, Sandesh C S; Raggio, Cathleen.
Afiliación
  • Machol K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Hadley TD; Texas Children's Hospital, Houston, Texas.
  • Schmidt J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Cuthbertson D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Traboulsi H; College of Medicine, University of South Florida, Tampa, Florida.
  • Silva RC; Department of Otolaryngology-Head and Neck Surgery, Baylor College of Medicine, Houston, Texas.
  • Citron C; Texas Children's Hospital, Houston, Texas.
  • Khan S; Department of Otolaryngology-Head and Neck Surgery, Baylor College of Medicine, Houston, Texas.
  • Citron K; Texas Children's Hospital, Houston, Texas.
  • Carter E; Department of Pediatric Orthopedic Surgery, Hospital for Special Surgery, New York, New York.
  • Brookler K; Department of Pediatric Orthopedic Surgery, Hospital for Special Surgery, New York, New York.
  • Shapiro JR; Department of Pediatric Orthopedic Surgery, Hospital for Special Surgery, New York, New York.
  • Steiner RD; Department of Pediatric Orthopedic Surgery, Hospital for Special Surgery, New York, New York.
  • Byers PH; Department of Pediatric Orthopedic Surgery, Hospital for Special Surgery, New York, New York.
  • Glorieux FH; Department of Bone and Osteogenesis Imperfecta, Kennedy Krieger Institute, Baltimore, Maryland.
  • Durigova M; Department of Medicine at Uniformed Services, University of the Health Sciences, Bethesda, Maryland.
  • Smith P; University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.
  • Bober MB; Pediatrics and Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon.
  • Sutton VR; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle.
  • Lee BH; Department of Pathology, Division of Medical Genetics, University of Washington, Seattle.
  • Nagamani SCS; Shriner's Hospital for Children and McGill University, Montreal, Quebec, Canada.
  • Raggio C; Motion Analysis Laboratory, Shriners Hospitals for Children, Chicago, Illinois.
Am J Med Genet A ; 182(4): 697-704, 2020 04.
Article en En | MEDLINE | ID: mdl-31876392
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Colágeno Tipo I / Pérdida Auditiva / Mutación Tipo de estudio: Clinical_trials / Risk_factors_studies Límite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged País/Región como asunto: America do norte Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Colágeno Tipo I / Pérdida Auditiva / Mutación Tipo de estudio: Clinical_trials / Risk_factors_studies Límite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged País/Región como asunto: America do norte Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article Pais de publicación: Estados Unidos