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Auditory dysfunction in type 2 Stickler Syndrome.

Philip Alexander1,2, Philip Gomersall3, Jack Stancel-Lewis4

  • 1Vitreoretinal Service, Box 41, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK.

European Archives of Oto-Rhino-Laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
|September 9, 2020
PubMed
Summary
This summary is machine-generated.

Hearing loss is common in type 2 Stickler Syndrome, primarily affecting the cochlea across all frequencies. While speech and spatial hearing difficulties exist, they are comparable to others with similar hearing loss, suggesting peripheral, not central, auditory processing issues.

Keywords:
COL11A1COL2A1ConductiveHearing lossRetinal detachmentSensorineuralStickler SyndromeType 2

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Area of Science:

  • Genetics and Molecular Biology
  • Otolaryngology
  • Ophthalmology

Background:

  • Type 2 Stickler Syndrome is a genetic disorder caused by mutations in the COL11A1 gene.
  • It affects collagen, impacting various tissues including the eye, cartilage, and cochlea.
  • Key features include ocular abnormalities, hearing loss, joint problems, and facial differences.

Purpose of the Study:

  • To determine the extent and location of auditory dysfunction in individuals with type 2 Stickler Syndrome.
  • To investigate the relationship between collagen defects and hearing impairment in this population.

Main Methods:

  • A population study involving 65 genetically confirmed type 2 Stickler Syndrome patients.
  • Utilized audiometric, tympanometric, and self-report measures.
  • Compared results to age-matched normative data and a non-syndromic cohort.

Main Results:

  • 69% of individuals exhibited hearing impairment in at least one ear.
  • Reduced hearing sensitivity was observed across all tested frequencies.
  • Sensorineural hearing loss was the most prevalent type (77% of affected ears).

Conclusions:

  • Auditory impairment in type 2 Stickler Syndrome is mainly cochlear, with varying severity.
  • Defective collagen likely affects the entire cochlea, impacting hearing thresholds broadly.
  • Hearing difficulties appear to stem from peripheral auditory system issues, not central processing deficits.