Audiologic phenotype of XXXX : use in clinical differentiation.

@entity1 @entity8719 @entity1274 @entity393 @entity6926
OBJECTIVES: To describe the audiologic phenotype in @entity6926 ( @entity6926 ). STUDY DESIGN: Observational study. SETTING: Tertiary referral center. @entity1 : One hundred eighty-two @entity1 with genetically confirmed @entity6926 , aged 3 to 89 years. INTERVENTION: Diagnostic hearing evaluation through otoadmittance and acoustic stapedius reflex measurements, pure tone, and speech audiometry. MAIN OUTCOME MEASURE(S): Prevalence, type, severity, symmetry, and audiometric configuration of the @entity393 in @entity6926 . Progression of hearing thresholds was determined by constructing age-related typical audiograms. RESULTS: Approximately 52.2% of all @entity6926 @entity1 demonstrated @entity393 unilaterally (7.7%) or bilaterally (44.5%). Pure conductive, mixed, and pure @entity1274 were observed in 8.5%, 37.8%, and 11.6% of @entity6926 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 @entity393 . Pure @entity1274 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 @entity1274 . CONCLUSION: @entity1 with @entity6926 are at risk for @entity393 . The @entity393 in @entity6926 may initiate at a young age and is progressive. However, the rate of progression, as well as the @entity393 severity, onset, and configuration depend on the type of @entity393 , 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 @entity393 in @entity1 with @entity6926 . In addition, they may be valuable to distinguish between @entity393 associated with @entity6926 and other similar forms of @entity393 , such as in @entity8719 .
