Auditory dysfunction in type 2 Stickler Syndrome
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OTOLOGY
Auditory dysfunction in type 2 Stickler Syndrome Philip Alexander1,2 · Philip Gomersall3 · Jack Stancel‑Lewis4 · Gregory Scott Fincham1,2 · Arabella Poulson1,2 · Allan Richards5,6 · Annie McNinch2,5,6 · David M. Baguley7,8,9,10 · Martin Snead1,2 Received: 5 June 2020 / Accepted: 18 August 2020 © The Author(s) 2020
Abstract 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, normalhearing 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. Keywords Stickler Syndrome · Type 2 · Conductive · Sensorineural · Hearing loss · Retinal detachment · COL11A1 · COL2A1
Introduction In 1965, Dr. Gunnar Stickler and colleagues described a dominant “hereditary arthro-ophthalmopathy” characterised by premature degenerative osteoarthropathy, and progressive myopia beginning in the first decade of life and frequently resulting in retinal detachment and blindness [1]. Originally considered a single gene disorder, at least nine genes are now known to cause Stickler Syndrome [2, 3], but the vast Philip Alexander and Philip Gom
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