title: Audiologic phenotype of osteogenesis imperfecta:  use in clinical differentiation.
abstract: OBJECTIVE
  To describe the audiologic phenotype in osteogenesis imperfecta (OI).
  
  
  METHODS
  Observational study.
  
  
  METHODS
  Tertiary referral center.
  
  
  METHODS
  One hundred eighty-two patients with genetically confirmed OI, aged 3 to 89 years.
  
  
  METHODS
  Diagnostic hearing evaluation through otoadmittance and acoustic stapedius reflex measurements, pure tone, and speech audiometry.
  
  
  METHODS
  Prevalence, type, severity, symmetry, and audiometric configuration of the hearing loss in OI. Progression of hearing thresholds was determined by constructing age-related typical audiograms.
  
  
  RESULTS
  Approximately 52.2% of all OI patients demonstrated hearing loss unilaterally (7.7%) or bilaterally (44.5%). Pure conductive, mixed, and pure sensorineural hearing losses were observed in 8.5%, 37.8%, and 11.6% of OI ears, respectively. Multiple linear regression revealed that thresholds progressed by 0.5 dB/yr at 0.25 kHz to 0.8 dB/yr at 0.8 kHz in the ears with conductive or mixed hearing loss. Pure sensorineural hearing loss progressed by less than 0.1 dB/yr at 0.25 kHz to 1.2 dB/yr at 8.0 kHz. Audiometric configuration was predominantly flat (70.5%) in the ears with conductive/mixed loss and sloping (50.0%) in those with pure sensorineural loss.
  
  
  CONCLUSIONS
  Patients with OI are at risk for hearing loss. The hearing loss in OI may initiate at a young age and is progressive. However, the rate of progression, as well as the hearing loss severity, onset, and configuration depend on the type of hearing loss, which may be conductive/mixed or pure sensorineural. For both types, age-related threshold audiograms are constructed and may help the clinician to estimate the course of the hearing loss in patients with OI. In addition, they may be valuable to distinguish between hearing loss associated with OI and other similar forms of hearing loss, such as in otosclerosis.
authors.affiliation: Department of Otorhinolaryngology, Ghent University Hospital, Ghent, Belgium. Freya.Swinnen@UGent.be
authors.forename: Freya K R
authors.initials: FK
authors.lastname: Swinnen
authors.forename: Ingeborg J M
authors.initials: IJ
authors.lastname: Dhooge
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Coucke
authors.forename: Patrizia
authors.initials: P
authors.lastname: D'Eufemia
authors.forename: Francesco
authors.initials: F
authors.lastname: Zardo
authors.forename: Ton J T M
authors.initials: TJ
authors.lastname: Garretsen
authors.forename: Cor W R J
authors.initials: CW
authors.lastname: Cremers
authors.forename: Els M R
authors.initials: EM
authors.lastname: De Leenheer
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000375:Aging / Q000502:physiology; D001298:Audiology; D001301:Audiometry, Pure-Tone; D001309:Auditory Threshold / Q000502:physiology; D002648:Child; D003937:Diagnosis, Differential; D018450:Disease Progression; D005260:Female; D006309:Hearing / Q000502:physiology*; D034381:Hearing Loss / Q000209:etiology; D006312:Hearing Loss, Bilateral / Q000209:etiology; D006314:Hearing Loss, Conductive / Q000209:etiology; D006319:Hearing Loss, Sensorineural / Q000209:etiology; D046088:Hearing Loss, Unilateral / Q000209:etiology; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010013:Osteogenesis Imperfecta / Q000150:complications / Q000503:physiopathology*; D010641:Phenotype; D012018:Reflex / Q000502:physiology; D013067:Speech Perception / Q000502:physiology; D013198:Stapedius / Q000502:physiology; D055815:Young Adult