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Objectives: We studied the clinical characteristics of an Australian family with an autosomal dominant sensorineural hearing impairment (DFNA9) caused by an I109N mutation in COCH. Methods: Retrospective analyses of audiometric data from 8 mutation carriers of an Australian DFNA9 family with the I109N COCH mutation were performed. Cross-sectional hearing levels related to age, age-related typical audiograms, and speech recognition scores related to age and to the level of hearing impairment were investigated. Data were compared to those obtained in previously identified DFNA9 families with P51S, V66G, G87W, G88E, I109T, and C542F COCH mutations. Results: Deterioration of hearing in the I109N mutation carriers started before the age of 40 years. The audiometric characteristics of the I109N mutation carriers are essentially similar to those previously established in I109T mutation carriers and, to a lesser extent, in P51S, G87W, and G88E mutation carriers. Conclusions: The phenotype associated with the I109N COCH mutation is largely similar to that associated with the I109T, P51S, G87W, and G88E mutation carriers. However, subtle differences seem to exist in terms of age of onset and rate of progression.

Objectives: Cochleovestibular characteristics were investigated in a Dutch DFNA15 family with a novel POU4F3 mutation, L223P Methods: A 4-generation pedigree was constructed of the Dutch family with the novel L223P POU4F3 mutation. Pure tone audiometric data were collected and analyzed cross-sectionally in mutation carriers. Age-related typical audiograms were derived. Vestibular examination was performed in most of the mutation carriers. The results were compared to those obtained from previously identified 884del8 and L289F POU4F3 mutation carriers. Results: A novel mutation (L223P) in POU4F3 segregated with hearing impairment in the present family. Audiometric analysis generally showed an early-adult to midlife onset of hearing impairment. High-frequency hearing impairment was observed most frequently. Age-related typical audiograms showed a down-sloping configuration at ages of more than 30 years, with the fastest rate of progression at the high frequencies. Vestibular function tests revealed hypofunction of the vestibular labyrinth in 2 mutation carriers (not statistically significant). Conclusions: The clinical features in the present family with a POU4F3 mutation were fairly similar to those in the 2 previously described DFNA15 families, but the level of hearing impairment was milder, and there was no substantial vestibular dysfunction.

Objectives: We studied the results of postauricular approach atticotomy in patients with cholesteatoma of the anterior epitympanum. Methods: Twenty-six patients were selected for removal of cholesteatoma of the anterior epitympanum by postauricular approach atticotomy, a closed transcanal procedure that is used to expose and remove cholesteatoma. After removal of cholesteatoma, reconstruction of the scutum is performed with cymbal cartilage. Results: Postauricular approach atticotomy can be performed as part of a canal wall–up procedure in selected cases in which cholesteatoma invades the anterior epitympanum. Especially if the ossicular chain is intact and if there is an anteriorly curved medial outer canal wall, this technique is useful in avoiding an open technique. A second-look procedure is recommended because of a relatively high percentage of recurrent and residual disease. Conclusions: Postauricular approach atticotomy with reconstruction of the scutum is a useful technique to remove cholesteatoma from the anterior epitympanum.

Item does not contain fulltext In 15 Belgian subjects with prelingual sensorineural hearing impairment, the connexin 26 (GJB2) gene and the connexin 30 (GJB6) gene were analyzed for the presence of the 35delG mutation and the delta(GJB6-D13S1830) deletion first described by del Castillo et al in 2002. Seven patients were found to be homozygous for the 35delG mutation; 7 were combined heterozygotes for the 35delG mutation and the GJB6 deletion. In 11 subjects, phenotype and genotype were correlated. Significant, transient progression, in the range of 1.7 to 2.7 dB/y, was only found in 2 patients in the first part of the second decade of life. Hearing impairment was otherwise stable, with mean thresholds of 75, 90, and 100 dB at 0.125, 0.25, and 0.5 kHz, respectively, and 100 dB or higher at 1 to 4 kHz. There was no significant difference in hearing impairment between the patients with the homozygous 35delG mutation in GJB2 and those who are heterozygous for both the 35delG mutation and the deletion encompassing part of GJB6.

Most, but not all, hearing-impaired patients with air conduction hearing aids prefer binaural amplification instead of monaural amplification. The binaural application of the bone conduction hearing aid is more disputable, because the attenuation (in decibels) of sound waves across the skull is so small (10 dB) that even one bone conduction hearing aid will stimulate both cochleas approximately to the same extent. Binaural fitting of the bone-anchored hearing aid was studied in three experienced bone-anchored hearing aid users. The experiments showed that sound localization, and speech recognition in quiet and also under certain noisy conditions improved significantly with binaural listening compared to the monaural listening condition. On the average, the percentage of correct identifications (within 45°) in the sound localization experiment improved by 53% with binaural listening; the speech reception threshold in quiet improved by 4.4 dB. The binaural advantage in the speech-in-noise test was comparable to that of a control group of subjects with normal hearing listening monaurally versus binaurally. The improvements in the scores were ascribed to diotic summation (improved speech recognition in quiet) and the ability to separate sounds in the binaural listening condition (improved sound localization and improved speech recognition in noise whenever the speech and noise signals came from different directions). All three patients preferred the binaural bone-anchored hearing aids and used them all day.

Hearing loss was studied in relation to age in nonoperated ears in a group of 142 subjects with autosomal dominant osteogenesis imperfecta type I, which was compared to that in a random subsample of 70 subjects. In the n = 142 group, particularly below the age of 30 years, considerable selection (ie, for ear surgery) had occurred on hearing loss. The hearing threshold increased gradually with age. A hearing loss of greater than 30 dB (Fletcher index) was observed for 51 % of the subjects older than 20 years and younger than 60 years. The median hearing loss progressed from the 10th to the 45th years of life with an average annual threshold increase (ATI) of 1 dB/y (0.5 to 4 kHz) up to 1.7 dB/y (8 kHz). Sensorineural loss accounted for 0.6 dB/y ATI at 0.5 to 4 kHz and 1.3 dB/y ATI at 8 kHz; conductive loss accounted for 0.4 dB/y ATI at all frequencies.

Speech recognition scores were analyzed in 34 carriers of a DFNA5 mutation. Cross-sectional linear regression analysis (last visit, maximum recognition score in %Correct on age or PTA1,2,4 kHz) established onset age (score 90%) at 16 years and onset PTA1,2,4 kHz level (score 90%) at 41 dB hearing level. The deterioration rate was 0.7%/y in the plot of maximum score against age, whereas the deterioration gradient was 0.4%/dB in the plot of maximum score against PTA1,2,4 kHz. Given the previously demonstrated rapid progression of hearing impairment, speech recognition was relatively good: at age 70, the score was still >50%.

Because of the important function of the embryologic stapedial artery, it is taken for granted by many surgeons that the finding of such a persistent artery in postnatal humans during middle ear surgery should urge maximal caution in order not to damage the artery. Often, discontinuation of the surgery is recommended. Yet this attitude is based on theoretic considerations rather than on any clinical evidence of complications following injury to this vessel. The present paper describes the embryology in relation to this specific aspect and reviews the literature on the persistent stapedial artery, emphasizing the papers dealing with injury to this vessel. In addition, we report 4 cases of persistent stapedial artery from the files of almost 20,000 patients in whom tympanotomy was performed. From all these data we conclude that injury to this artery or even complete section probably does not cause major, if any, postoperative sequelae, and that consequently, middle ear surgery is not necessarily hindered by the presence of this vessel.

Branchiogenic syndromes such as branchio-oto-renal syndrome, Treacher Collins syndrome, and hemifacial microsomia are well delineated. From a clinical study in a large family spanning three generations, it can be concluded that the association of conductive deafness, commissural lip pits, preauricular sinuses, and external ear anomalies can be differentiated from the above-mentioned syndromes and is a separate autosomal dominant syndrome.

The disappointing results in 12 of 58 stapedectomies, including 4 revision operations, performed on osteogenesis imperfecta patients were analyzed and compared with reports in the literature. It is concluded that the results described as disappointing were not always the product of the stapes operation. A progressive sensorineural hearing loss arising independently of the operation as a result of progression in the disease process of osteogenesis imperfecta appears to have a severe influence on the final hearing threshold.