Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients

Eur Arch Otorhinolaryngol. 2016 Oct;273(10):3025-34. doi: 10.1007/s00405-016-3896-6. Epub 2016 Jan 19.

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.

Keywords: COL11A1; COL2A1; Collagen; Hereditary hearing loss; Otoacoustic emissions; Stickler syndrome.

MeSH terms

  • Adolescent
  • Adult
  • Arthritis / diagnosis*
  • Arthritis / physiopathology
  • Audiometry, Pure-Tone / methods*
  • Auditory Threshold / physiology*
  • Child
  • Connective Tissue Diseases / diagnosis*
  • Connective Tissue Diseases / physiopathology
  • Cross-Sectional Studies
  • Disease Progression
  • Female
  • Hearing Loss, Sensorineural / diagnosis*
  • Hearing Loss, Sensorineural / physiopathology
  • Humans
  • Male
  • Middle Aged
  • Otoacoustic Emissions, Spontaneous / physiology*
  • Phenotype
  • Retinal Detachment / diagnosis*
  • Retinal Detachment / physiopathology
  • Young Adult

Supplementary concepts

  • Stickler syndrome, type 1