title: Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients.
abstract: Hearing loss in Stickler syndrome has received little attention due to the often more disabling ocular, orofacial and skeletal manifestations. Estimates suggest a global prevalence of sensorineural hearing loss (SNHL) ranging from 50 % to about 100 % though, depending on the underlying Stickler genotype. By performing extensive audiometric analysis in Stickler patients, we aimed to further elucidate the auditory phenotype. Twenty molecularly confirmed Stickler patients (age 10-62 year), of whom sixteen with type 1 Stickler syndrome (COL2A1 mutation) and four with type 2 Stickler syndrome (COL11A1 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 type 1 Stickler syndrome, 75 % demonstrated hearing loss, predominantly in the high frequencies. No significant progression beyond presbyacusis was observed. All type 2 Stickler patients exhibited mild-to-moderate low- and mid-frequency SNHL and moderate-to-severe high-frequency SNHL. In both types, hearing loss 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 Stickler syndrome is characterized by a mild high-frequency SNHL, emerging in childhood and non-progressive. Absent otoacoustic emissions are a frequent finding. Patients with type 2 Stickler syndrome exhibit early-onset moderate SNHL affecting all frequencies with a sloping audiogram. Taking into account the visual impairment in many patients, we recommend regular auditory follow-up in patients with Stickler syndrome, especially in childhood.
authors.affiliation: Department of Otorhinolaryngology, Ghent University Hospital, Ghent University, De Pintelaan 185 (1P1), 9000, Ghent, Belgium. frederic.acke@ugent.be.
authors.forename: Frederic R
authors.initials: FR
authors.lastname: Acke
authors.affiliation: Department of Otorhinolaryngology, Ghent University Hospital, Ghent University, De Pintelaan 185 (1P1), 9000, Ghent, Belgium.
authors.forename: Freya K
authors.initials: FK
authors.lastname: Swinnen
authors.affiliation: Center for Medical Genetics, Ghent University Hospital, Ghent University, De Pintelaan 185, 9000, Ghent, Belgium.
authors.forename: Fransiska
authors.initials: F
authors.lastname: Malfait
authors.affiliation: Department of Otorhinolaryngology, Ghent University Hospital, Ghent University, De Pintelaan 185 (1P1), 9000, Ghent, Belgium.
authors.forename: Ingeborg J
authors.initials: IJ
authors.lastname: Dhooge
authors.affiliation: Department of Otorhinolaryngology, Ghent University Hospital, Ghent University, De Pintelaan 185 (1P1), 9000, Ghent, Belgium.
authors.forename: Els M R
authors.initials: EM
authors.lastname: De Leenheer
mesh_terms: D000293:Adolescent; D000328:Adult; D001168:Arthritis / Q000175:diagnosis* / Q000503:physiopathology; D001301:Audiometry, Pure-Tone / Q000379:methods*; D001309:Auditory Threshold / Q000502:physiology*; D002648:Child; D003240:Connective Tissue Diseases / Q000175:diagnosis* / Q000503:physiopathology; D003430:Cross-Sectional Studies; D018450:Disease Progression; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000503:physiopathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D017084:Otoacoustic Emissions, Spontaneous / Q000502:physiology*; D010641:Phenotype; D012163:Retinal Detachment / Q000175:diagnosis* / Q000503:physiopathology; D055815:Young Adult
keywords: COL11A1; COL2A1; Collagen; Hereditary hearing loss; Otoacoustic emissions; Stickler syndrome