Auditory dysfunction in type 2 Stickler Syndrome

Autor: Allan J. Richards, Arabella V. Poulson, Jack Stancel-Lewis, Philip Alexander, Annie McNinch, Philip Gomersall, Martin P. Snead, David M. Baguley, Gregory S. Fincham
Přispěvatelé: Alexander, Philip [0000-0002-2399-4154], Gomersall, Philip [0000-0001-6287-7180], Stancel-Lewis, Jack [0000-0002-7826-2022], Fincham, Gregory Scott [0000-0002-0369-7195], Richards, Allan [0000-0003-1511-3836], Baguley, David M. [0000-0002-0767-0723], Snead, Martin [0000-0003-0042-8659], Apollo - University of Cambridge Repository, Baguley, David M [0000-0002-0767-0723]
Rok vydání: 2020
Předmět:
Zdroj: European Archives of Oto-Rhino-Laryngology
ISSN: 0937-4477
1434-4726
Popis: Funder: University of Nottingham
Purpose: To present the extent and site of lesion of auditory dysfunction in a large cohort of individuals with type 2 Stickler Syndrome. Type 2 Stickler Syndrome results from a mutation in the gene coding for α-1 type XI pro-collagen, which has been identified in the human vitreous, cartilage and the cochlea of the mouse. The condition is characterised by classic ocular abnormalities, auditory dysfunction, osteoarthropathy and oro-facial dysplasia. Methods: This is a population study which used a combination of audiometric, tympanometric, and self-report measures on a series of 65 individuals (mean age 29.2 years, range 3–70, female 63.1%) with genetically confirmed type 2 Stickler Syndrome. Results: Hearing impairment was identified in at least one ear for 69% of individuals. Analysis against age-matched normative data showed that reduced hearing sensitivity was present across all test frequencies. Sensorineural hearing loss was most common (77% of ears), with conductive (3%), mixed (7%) and no hearing loss (13%), respectively. The proportion of hypermobile tympanic membranes (24%) was less than previously documented in type 1 Stickler Syndrome. When present, this appears to arise as a direct result of collagen abnormalities in the middle ear. Self-report measures of speech and spatial hearing in sound were comparable to a non-syndromic cohort with similar audiometric thresholds. Conclusions: Auditory impairment in type 2 Stickler Syndrome is predominantly associated with cochlear hearing loss of varying severities across affected individuals. The impact on hearing thresholds can be seen across the frequency range, suggesting a contribution of defective collagen throughout the cochlea. Self-report questionnaires showed that difficulties understanding speech, and spatial information in sound (such as that used for localisation), were worse than a young, normal-hearing population but comparable to a non-syndromic cohort with similar audiometric thresholds. Therefore, it is likely that hearing loss in type 2 Stickler Syndrome arises in the auditory periphery, without significant central processing deficits.
Databáze: OpenAIRE
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