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.

Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37

“…Patients with collagenopathies that include hearing impairment due to deleterious variants in COL11A1 (STL2 and Marshall syndrome) and COL11A2 (STL3) also show remarkably similar types of audiograms. 34 – 36 The results of psychophysical tests at suprathreshold levels in DFNA8/12, DFNA13, and STL3 ( COL11A2 ) patients revealed that the type of hearing impairment is compatible with intracochlear conduction loss. 36 – 38 This is in line with the notion that disease-causing variants in COL11A2 affect tectorial membrane function.…”

Diabetes Risk Data Mining Method Based on Electronic Medical Record Analysis

“…Carry out content screening processing on the sorted electronic medical record data [8]. According to the different research purposes, different medical records in the electronic medical records are selected, and different attribute information in the medical records is screened according to different target attributes.…”

Stickler Syndrome: A Review of Clinical Manifestations and the Genetics Evaluation

“…Hearing loss is a common feature of SS [ 2 , 5 , 28 , 31 , 36 , 37 ]. The most common form of hearing loss is pure sensorineural hearing loss, with increasing prevalence with age [ 36 , 38 ].…”

“…Mixed sensorineural and conductive hearing loss and purely conductive hearing loss may also be seen, more commonly affecting children or those with history of palatal defects [ 5 , 36 ]. Individuals with STL1 generally exhibit a mild to moderate sensorineural hearing loss that affects the higher frequencies [ 36 , 37 , 38 ]. In contrast, individuals with STL2 tend to have more pronounced hearing loss that is more apparent at younger ages [ 36 , 37 , 38 ].…”

“…Individuals with STL1 generally exhibit a mild to moderate sensorineural hearing loss that affects the higher frequencies [ 36 , 37 , 38 ]. In contrast, individuals with STL2 tend to have more pronounced hearing loss that is more apparent at younger ages [ 36 , 37 , 38 ]. Individuals with recessive forms of SS have been reported to have early onset sensorineural hearing loss of higher frequencies, with mild to moderate hearing loss described in STL5 and moderate to severe hearing loss in STL4 and STL6 [ 9 , 10 , 11 , 23 , 34 ].…”