title: Abnormal audiograms and elevated acoustic reflex thresholds in obligate carriers of autosomal recessive non-syndromic hearing loss.
abstract: Pure-tone audiograms and acoustic reflex thresholds were obtained in 24 presumed obligate carriers of autosomal recessive non-syndromic hearing loss and 30 sex and age appropriate control subjects, with a view to evaluating the prevalence of abnormalities on these tests in the two groups, and a possible link between the findings on the two tests, which may help to localize threshold deficits and/or abnormal configurations to different sections of the reflex arc. Six (25%) of the carriers and one control subject had abnormal audiograms, inferred to be of genetic aetiology through careful exclusion of environmental risk factors. Four additional carriers had acoustic reflex threshold abnormalities. None of the carriers had an abnormality on both tests. The audiometric configurations and acoustic reflex patterns of abnormality were diverse, and may be a reflection of the genetic heterogeneity in ARNSHL.
authors.affiliation: Academic Division of Audiological Medicine, Institute of Laryngology and Otology, UCL Medical School, London, UK.
authors.forename: M
authors.initials: M
authors.lastname: Cohen
authors.forename: M
authors.initials: M
authors.lastname: Francis
authors.forename: R
authors.initials: R
authors.lastname: Coffey
authors.forename: M E
authors.initials: ME
authors.lastname: Pembrey
authors.forename: L M
authors.initials: LM
authors.lastname: Luxon
mesh_terms: D000328:Adult; D001301:Audiometry, Pure-Tone; D001309:Auditory Threshold / Q000502:physiology; D016022:Case-Control Studies; D005260:Female; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D006311:Hearing Disorders / Q000175:diagnosis* / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D012022:Reflex, Acoustic / Q000502:physiology*