Auditory phenotype in XXXX : results of audiometric analysis in 20 @entity1 .

@entity1 @entity20353 @entity227 @entity28942 @entity4712 @entity20354 @entity794 @entity1274 @entity164 @entity393
UNASSIGNED: @entity393 in @entity4712 has received little attention due to the often more disabling ocular, orofacial and skeletal manifestations. Estimates suggest a global prevalence of @entity1274 ( @entity1274 ) ranging from 50  % to about 100  % though, depending on the underlying Stickler genotype. By performing extensive audiometric analysis in Stickler @entity1 , we aimed to further elucidate the auditory phenotype. Twenty molecularly confirmed Stickler @entity1 (age 10-62  year), of whom sixteen with @entity20353 ( @entity794 mutation) and four with @entity20354 ( @entity28942 mutation) underwent an otological questionnaire, clinical examination, pure tone and speech audiometry, tympanometry and otoacoustic emission testing. Cross-sectional and longitudinal regression analysis of the audiograms was performed to assess progression. In @entity20353 , 75  % demonstrated @entity393 , predominantly in the high frequencies. No significant progression beyond presbyacusis was observed. All @entity164 2 Stickler @entity1 exhibited mild-to-moderate low- and mid-frequency @entity1274 and moderate-to-severe high-frequency @entity1274 . In both types, @entity393 was observed in childhood. Otoacoustic emissions were only detectable in 7/40 ears and had very low amplitudes, even in frequency bands with normal hearing on pure tone audiometry. Type 1 @entity4712 is characterized by a mild high-frequency @entity1274 , emerging in childhood and non-progressive. Absent otoacoustic emissions are a frequent finding. @entity1 with @entity20354 exhibit early-onset moderate @entity1274 affecting all frequencies with a sloping audiogram. Taking into account the @entity227 in many @entity1 , we recommend regular auditory follow-up in @entity1 with @entity4712 , especially in childhood.
