Prevalence and nature of connexin 26 mutations in children with non-syndromic deafness.

OBJECTIVE: To determine (1) the prevalence and nature of connexin 26 mutations in a cohort of Australian children with non-syndromic hearing loss, and (2) the carrier frequency of the common connexin 26 mutation (35delG) in the general population. DESIGN: A cohort, case-finding study. Mutation analysis was performed on DNA extracted from white blood cells, buccal cells, or Guthrie blood spots. SETTING: A hearing loss investigation clinic and a deafness centre in two Australian capital cities, 1 January 1998 to 31 October 2000. PARTICIPANTS: (1) 243 children (age range, 4 weeks to 16 years; median, 4 years), attending hearing loss clinics in Sydney and Melbourne; (2) 1000 blood samples obtained from anonymous Guthrie card blood spots collected in 1984 [corrected] by the Victorian Clinical Genetics Service as part of the newborn screening program. MAIN OUTCOME MEASURES: (1) The prevalence and types of connexin 26 mutations in a cohort of children with prelingual deafness; (2) the carrier frequency of the common connexin 26 mutation, 35delG, in the general population. RESULTS: Connexin 26 mutations were identified and characterised in 52 (21%) of the 243 children; 14 different mutations, including four previously unreported mutations (135S, C53R, T123N and R127C), were identified. The common 35delG mutation was found in 56 of the 104 alleles (ie, 86 of the connexin 26 alleles in which a mutation was positively identified). The mutations V371 and M34T were also relatively common. The carrier frequency of connexin 26 mutations and of the common 35delG connexin 26 mutation in the Victorian population was estimated to be 1 in 54 and 1 in 100, respectively. CONCLUSIONS: Mutations in the connexin 26 gene (especially the 35delG mutation) are a common cause of prelingual hearing loss in Australia.

Effects of stimulus frequency and complexity on the mismatch negativity and other components of the cortical auditory-evoked potential.

This study investigated, first, the effect of stimulus frequency on mismatch negativity (MMN), N1, and P2 components of the cortical auditory event-related potential (ERP) evoked during passive listening to an oddball sequence. The hypothesis was that these components would show frequency-related changes, reflected in their latency and magnitude. Second, the effect of stimulus complexity on those same ERPs was investigated using words and consonant-vowel tokens (CVs) discriminated on the basis of formant change. Twelve normally hearing listeners were tested with tone bursts in the speech frequency range (400/440, 1,500/1,650, and 3,000/3,300 Hz), words (/baed/ vs /daed/) and CVs (/bae/ vs /dae/). N1 amplitude and latency decreased as frequency increased. P2 amplitude, but not latency, decreased as frequency increased. Frequency-related changes in MMN were similar to those for N1, resulting in a larger MMN area to low frequency contrasts. N1 amplitude and latency for speech sounds were similar to those found for low tones but MMN had a smaller area. Overall, MMN was present in 46%-71% of tests for tone contrasts but for only 25%-32% of speech contrasts. The magnitude of N1 and MMN for tones appear to be closely related, and both reflect the tonotopicity of the auditory cortex.

Electrocochleography: a new technique.

The near field monitoring of an auditory evoked response from the cochlear (electrocochleography) is a tried and trusted clinical tool. Conventional techniques for performing electrocochleography are cumbersome to use and frequently uncomfortable for the patient. We present a simple, modified technique which provides more flexibility with regard to where and when electrocochleography may be performed and also improves patient comfort during the test.