British journal of audiology最新文献

The capacity of different audiological methods to detect a high noise susceptibility was examined in 20 normally hearing and 26 especially noise-susceptible subjects. The latter were selected from 422 soldiers in field studies: they had shown a temporary threshold shift (TTS) in pure tone audiometry (PTA) after regular training with firearms. In laboratory experiments, the TTS-positive soldiers were re-examined using greatly reduced sound intensities, which caused no TTS in a control subject group. Before and after acoustic stimulation, different subjective (PTA, high frequency audiometry (HFA), upper limit of hearing (ULH)) and objective (transiently evoked otoacoustic emissions (TEOAE), distortion products (DPOAE)) audiological tests were performed. After exposure to low impact noise in the laboratory, in both PTA and HFA, a TTS was observed in 11.5% (N = 3) of the noise-susceptible group (compared to 0% in the control group). In the TTS-positive group, deterioration of the ULH occurred in 28% (N = 7) (compared to 15% (N = 3) in the control group). An ULH improvement occurred in only one subject (3.8%) (compared to 25% (N = 5) in the control group). Significant alterations of click-evoked OAE-amplitudes were found in 26.9% (N = 7) of the selected groups, whereas stable emissions were observed in all but one subject (5%) of the control group. However, DPOAE alterations were seen in 19.2% (N = 5) of the TTS-positive soldiers but also in 25% (N = 5) of the control group. These results suggest that TEOAE provides a more sensitive and more objective method of detecting a subtle noise-induced disturbance of cochlear function than do PTA or DPOAE.

The objective of the present study was to describe the prevalence of subjective hearing problems and hearing impairment and to evaluate the relation between subjective hearing problems and audiometric thresholds, in a random sample of subjects aged 31-50 years. The study is cross-sectional and based on data from questionnaires (N = 1397) and pure tone audiometry (N = 905) in the Ebeltoft Health Promotion Project in Denmark. Hearing problems were significantly more prevalent in males than females. Males had significantly poorer average audiometric thresholds (0.5, 1, 2 and 4 kHz) in the better hearing ear (BE) and worse hearing ear (WE) than females. Average audiometric thesholds were poorer in the 41-50-year-old age group compared with the 31-40-year-old age group, the difference being most marked in males. Overall prevalence of hearing impairment (at least two threshold levels >25 dB HL) was 7.4% (95% confidence interval: 5.7-9.1%) in BE and 15.9% (13.5-18.3%) in WE. Prevalence of impairment > or = 25, > or = 35 and > or = 45 dB HL (average across 0.5-4 kHz): (BE) 3.4% (2.2-4.6%), 1.0% (0.3-1.6%) and 0.2% (0.0-0.5%); (WE) 11.6% (9.5-13.7%), 3.6% (2.4-4.9%) and 1.7% (0.8-2.5%). An interesting sex difference was noted as females were aware of hearing problems at an earlier stage of impairment than males. In conclusion, hearing impairment is fairly prevalent in this young rural population, less prevalent, however, than in the British National Study of Hearing. It is proposed that general practitioners should take a more active part in primary prevention, early detection of hearing impairment and early referral for rehabilitation.

The availability of mouse mutant models for known human deafness loci is limited. Moreover, it is unlikely that the current mouse archives hold mutants for the full panoply of genes involved in auditory system development and transduction. A large-scale ENU mutagenesis is currently underway to increase significantly the number of mouse deafness mutants available, employing specific screens for both deafness and balance defects. In the MRC Harwell screen, 13 mice have been identified so far with deafness, a balance defect or both. Mutagenized mice from the programme are also being used to search for modifiers of a known deafness gene, myosin VIIA (mutated in the Shaker 1 mutant mouse). The progress and encouraging results of the programme indicate that the combination of ENU mutagenesis and effective phenotype screens will lead to a significant contribution to the understanding of the genes and mechanisms involved in hereditary deafness.

Mutations in the Cx26/GJB2 gene account for a large proportion of pre-lingual hearing impairment with a prevalence up to 50% in autosomal recessive cases and a still undefined prevalence in sporadic cases. Ninety-four subjects affected by non-syndromal sensorineural hearing impairment (NSHI) were enrolled in the study. The patients had either a family history of childhood hearing deficit or represented sporadic cases. The risk of an acquired cause of the deficit has been carefully excluded. Audiological characteristics were investigated. Cx26 mutations were found in 50% of subjects. Seventy-three per cent of mutations in this gene were 35delG, with significant geographical variations. In 7% of the putative Cx26 alleles no mutations were detected either in the coding region or in the non-coding exon 1. Cx26 hearing impairment involves all frequencies, is of variable severity, and is very rarely progressive and most frequently symmetrical between the two ears. The high occurrence of this type of pre-lingual hearing impairment argues for modification of the protocols used to investigate the aetiology of childhood hearing impairment. Early screening for Cx26 mutations in all patients with non-syndromal familial and sporadic permanent childhood hearing impairment seems justified.

This consensus report represents a distillation of current opinion regarding diagnosis and management of congenital aural atresia. It also takes into account the philosophical differences which exist in Europe. Congenital aural atresia requires prompt diagnosis, genetic counselling and an early assessment of hearing. In bilateral atresia, early amplification with a bone conduction hearing aid is essential for proper speech development. Further rehabilitation in bilateral cases is managed with surgical reconstruction in selected patients or by implantation of a bone-anchored hearing aid. Atresia repair surgery is worthwhile if proper patient selection is made by use of stringent audiological and radiological criteria and state of the art surgery is performed. The divergent views concerning indications, ideal age for surgery and surgical approach to achieve better hearing are discussed. Review of the literature demonstrated that even in the hands of the best surgeons a mean hearing gain of only 20-25 dB is achieved in atresia Type II, with 30-35 dB in Type I. Therefore, surgical reconstruction should only be done in the more favourable cases where post-operative hearing of <25-30 dB is attainable. Less favoured patients should be helped with bone-anchored hearing aids, as this type of surgery does not interfere with the future use of new techniques.

This review is concerned with the present state of phenotypical characterization of known genotypes of non-syndromal autosomal dominant hearing impairment. A brief outline of history and context of phenotyping and genotyping of hearing impairment is given with particular reference to the most recent developments in this field, followed by descriptions of DFNA1, DFNA2, DFNA5, DFNA6/14, DFNA8/12, DFNA9, DFNA 13, DFNA17 and DFNA21. Phenotyping those known genotypes may support the ongoing search for mutations in the corresponding gene and enhance genetic counselling. It is recommended that sufficient attention is given to a detailed description of the phenotype in each (newly) described hereditary hearing impairment disorder.

Microdeletion 22q11 (del22q11) is one of the most frequent causes of genetic syndromes. The majority of cases of di George and velocardiofacial syndromes are due to del22q11. These conditions are considered to be developmentally related to neural crest anomalies influencing the differentiation of the branchial arches, including the percursor tissue of the ear. In addition, the UFDIL gene, an ubiquination gene being expressed during embryogenesis in the inner ear primordia, has been identified in the 22q11 critical region. The aim of this study was to evaluate the prevalence of hearing impairment in del22q11 syndrome. Admittance audiometry, behavioural pure tone audiometry and auditory brainstem response (ABR) were performed in 27 children studied at our hospital between 1997 and 1998. Results were related to clinical history, frequency otitis media and immune status. Sensorineural hearing loss was found in 4/27 (15%) patients (severe in three cases, mild in one), conductive hearing impairment in 12/27 (45%) (moderate in four cases, mild in eight) and normal hearing in 11/27 (40%). Interestingly, three of the patients with sensorineural hearing loss had cerebral lesions due to neonatal distress, to hydrocephalus and to post-surgical ischaemia each in one. The prevalence of speech delay, otitis media and low CD3 values was higher among patients with conductive hearing impairment in comparison with those with normal hearing. In conclusion, hearing impairment was documented in 60% of the patients and must be included among the clinical features of del22q11 syndrome. Audiological evaluation is recommended in patients with del22q11 in order to reduce the risk of speech deficit.

DFNA2 is a locus for autosomal dominant non-syndromal hearing impairment (ADNSHI) located on chromosome 1p34 and six linked families have been identified. An audiometric study of these families showed that despite small differences in the phenotype all families suffer from progressive hearing impairment starting in the high frequencies. A detailed genetic analysis revealed that this deafness locus contains more than one gene responsible for hearing impairment. Thus far, two genes on chromosome 1p34 have been implicated in ADNSHI. The first, connexin 31 (GJB3), is a member of the connexin gene family. Connexins form gap junctions. These are connections between neighbouring cells that allow transport of small molecules. GJB3 mutations were found in two small Chinese families with ADNSHI. The second is KCNQ4, a voltage-gated K+ channel. Mutations in KCNQ4 were first found in a small French family, later in five of the six linked DFNA2 families. No GJB3 or KCNQ4 mutations were detected in patients of an extended Indonesian DFNA2 family. Two pathways have been proposed for the recycling of K+ from the hair cells back to the endolymph. These pathways involve the use of gap junctions, K+ pumps and K+ channels. The expression of GJB3 and KCNQ4 in the inner ear and their functions suggest that both DFNA2 genes may play a role in K+ homeostasis.