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BACKGROUND: DFN3 ( "stapes gusher") is the most frequent form of X-linked hearing impairment. It accounts for up to 0.5% of all cases of severe childhood hearing disorders. PATIENTS AND METHODS: Monozygotic twins with suspected stapes gusher syndrome, their mother, and control individuals were analyzed clinically and genetically. RESULTS: The clinical investigations confirmed a DFN3 phenotype in both brothers who displayed all typical symptoms. A molecular genetic investigation of the POU3F4 gene, which plays an essential role in the development of DFN3, was also performed. No chromosomal aberrations within the coding region of POU3F4were detected. Since several authors have described mutations in the 5' untranslated region of the gene also resulting in a DFN3 phenotype, we screened this area by microsatellite analysis and detected a double deletion localized in the critical interval. This is the first description of a double deletion in the non-coding region of POU3F4 leading to DFN3 phenotype. CONCLUSION: Interestingly, in spite of having an identical genotype, the twins displayed significant phenotypic differences. This underlines the importance of exogenous factors in the development of inherited pathological processes.

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In Germany the dD by Feldmann is a frequently used test in child assessment. Unknown, however, is the validity of the dD in the assessment of children with specific developmental language disorders. The dD by Feldmann are pairs of three-syllable content words which are presented dichotically. In this controlled cross-sectional study 65 children took the dichotic listening test by Feldmann (dD). The experimental group comprised 34 children with developmental reading and spelling disorders. The control group comprised 31 children with normal reading and spelling development. Age and nonverbal IQ were matched in both groups. The mean age was 9.8 years (range 7 - 11 years). The dichotic listening performance of right and left ear was registered separately. Twenty word pairs were presented dichotically at a constant amplitude of 65 dB. Memorisation of word pairs was tested under free recall conditions. A score of 100 % can be attained, if all word pairs are repeated correctly. Results demonstrated that no child attained a score of 100 %. As expected, the children with the developmental reading and spelling disorders attained significantly lower scores than the children in the control group (42.4 % versus 64 %). The reason for the lower results in the experimental group was left ear dichotic listening performance. There were no significant differences in right dichotic listening performance. Raw score overlaps occurred to some extent in both groups, but scores of 30 % or less were only observed in the experimental group. Scores correlated significantly with age, but not with nonverbal IQ. However, dD performance significantly correlated with several measures of phonological and syntactic language development as well as with auditory working memory. Based on these results it is our opinion that performance scores of the dD by Feldmann should be interpreted cautiously until validation studies have been carried out.

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A study was conducted to compare the new MED-EL TEMPO+ ear-level speech processor with the CIS PRO+ body-worn processor in the COMBI 40/COMBI 40+ implant system. Speech tests were performed in 46 experienced subjects in two test sessions approximately 4 weeks apart. Subjects were switched over from the CIS PRO+ to the TEMPO+ in the first session and used only the TEMPO+ in the time between the two sessions. Speech tests included monosyllabic word tests and sentence tests via the telephone. An adaptive noise method was used to adjust each subject's scores to approximately 50%. Additionally, subjects had to complete a questionnaire based on their 4 weeks of experience with the TEMPO+. The speech test results showed a statistically significant improvement in the monosyllabic word scores with the TEMPO+. In addition, in the second session, subjects showed a significant improvement when using the telephone with the TEMPO+, indicating some learning in this task. In the questionnaire, the vast majority of subjects found that the TEMPO+ allows equal or better speech understanding and rated the sound quality of the TEMPO+ higher. All these objective and subjective results indicate the superiority of the TEMPO+ and are mainly attributed to a new coding strategy called CIS+ and its implementation in the TEMPO+. In other words, based on the results of this study, it appears that after switching over from the CIS PRO+ to the TEMPO+, subjects are able to maintain or even improve their own speech understanding capability.

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Non-syndromic neurosensory recessive deafness (NSRD) is one of the most common human sensory disorders. Mutations in the connexin 26 gene have been established as a major cause of inherited and sporadic non-syndromic deafness in different populations. The CX26 gene encodes the gap junction protein connexin 26 (beta-2, GJB2), whose expression was shown in several tissues and in the cochlea. The 30delG mutation is the most frequent mutation in the CX26 gene. It represents a deletion of guanosine (G) in a sequence of six Gs extending from position 30 to 35 of the CX26 cDNA. The deletion creates a frameshift resulting in a premature stop codon and a non-functional intracellular domain in the protein. The 30delG mutation can be detected at the molecular level using PCR followed by BsiYI digestion. We screened 164 mainly German patients with non-syndromic sporadic deafness for this mutation to determine its distribution in the German population. The frequency of the mutation in our analyzed patients was lower than in other studies and therefore indicates its dependency on geographically distinct populations.

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Despite significant improvements in early detection of hearing losses in children, a relatively long interval still exists from initial concern by families to definite audiological identification. The aim of our retrospective cross-sectional study was to identify parental factors contributing to the delay of early detection. The parents of 70 hearing-impaired children were interviewed. All children were fitted with hearing aids in our clinical and had no additional physical or cognitive disabilities. At an average age of 19.5 months, parents or family doctors noticed first signs of a possible hearing impairment. On average it then took an additional 7.2 months until hearing impairment was diagnosed by an expert and the necessary first steps taken for rehabilitation (fitting of hearing aids). Significantly, total hearing loss or profound hearing impairments were detected earlier than mild or moderate hearing impairments. In addition to hearing loss, parental education correlated significantly with an earlier start of rehabilitation. Statistical analysis revealed that children with hearing-impaired close relatives as well as first-born children tended to be diagnosed later. To further improve secondary prevention of hearing loss, the competence of specific parental groups should be taken into consideration.

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The electroglottogram (EEG) is known to be related to the motion of vocal folds. The major hypothesis is that the EGG is related to the area of contact of the vocal folds. EGG is thought to be incapable of measuring or monitoring non-contact type vibratory events in the larynx. Recently it was demonstrated by fast Fourier transformation (FFT) analysis of EGG curves that the resulting EGG can be interpreted as a sum of a 'laryngeal fundamental with overtones'. This necessitates a new interpretation of normal EGG waveshape. This study was undertaken to prove the hypothesis that (pathological) EGG curves contain information even about non-contact type vibratory events in the larynx during phonation when analyzed by FFT. Patients with vocal fold paralysis were asked to phonate sustained vowels (/a/, /e/, /i/, /o/, /u/). Voice sounds and EGG signals were recorded simultaneously, routed to a frequency analyzer and subjected to real-time FFT analysis. In all cases original EGG signals would have been classified as pathological. However, in all recordings the laryngeal fundamental frequency and--in some patients--overtones with their intensities could be extracted and compared to harmonics extracted from voice sound. This is the first report of FFT analysis of EGG signals in patients with vocal fold paralysis. It is proposed that vocal folds vibratory events may be of non-contact type and that they can be monitored by analysis of glottic impedance.

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Some time ago audiological screening in infants was mostly performed using musical instruments or equivalents. The use of acoustic evoked potentials and oto-acoustic emissions changed the strategies of hearing assessment in newborns and infants, however, musical instruments are still in use. An adequate interpretation of screening results obtained with musical instruments necessitates a profound knowledge of frequencies and intensities derived from these instruments. In this study spectral analyses of sounds from these instruments were performed. The results may be of value for those using musical instruments as a tool for audiological screening. In addition, the results show that with some instruments intensities able to cause inner ear damage can be generated.

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Although the results of surgical rehabilitation by means of voice prostheses are on the average better than rehabilitation via oesophageal speech, the tracheoesophageal puncture (TEP)-technique has so far not been widely used in Germany. The majority of hospitals still prefer the "traditional" method of voice rehabilitation using oesophageal speech. The present prospective study was undertaken to compare the results of postlaryngectomy vocal rehabilitation, if patients were offered the surgical voice rehabilitation via voice prosthesis as an alternative to oesophageal speech. Taking into account all the patients who underwent laryngectomy from 1989 until 1990 in Tübingen, primary surgical voice rehabilitation was performed in 44 out of 54 patients (81.5%). Interestingly enough, 34 patients who underwent laryngectomy were able to perform communication via the telephone on the day of their discharge. Moreover, one-third of the laryngectomised patients showed a significant increase in speech intelligibility within the first six months after laryngectomy. 36 patients with laryngectomy were able to attain proficiency 6 months after surgery. In 12 patients the prosthesis had to be removed, since either phonation was impossible or patients successfully learned and preferred oesophageal speech. In conclusion, independent of the method of voice rehabilitation (prosthesis, electrolarynx, oesophageal speech), our results support the hypothesis that a voice rehabilitation regimen will yield a higher rehabilitation rate of patients if rehabilitation via surgical voice is offered as an alternative to learning the oesophageal voice. Therefore, it seems to be advisable that patients are allowed to have the choice between surgical rehabilitation and oesophageal speech restoration.(ABSTRACT TRUNCATED AT 250 WORDS)

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For the etiology of certain inner ear diseases e.g. sudden hearing loss, an impaired cochlear blood flow is discussed. The model of the ferromagnetic thrombosis is an atraumatic method to produce a selective ischemia of the inner ear. The measurement of the inner ear potentials EP, MP and CAP can help to elucidate which inner ear structures are primarily impaired by local ischemia. During the action of a magnetic field to the right cochlea an intravenous injection of small iron particles leads to a thrombosis of the cochlear veins. EP, MP and CAP were measured in the thrombosed ear and MP and CAP in the undisturbed contralateral ear. The methods of microsurgery on the middle and inner ear, the electrophysiological measurement techniques of the inner ear potentials and the method of producing a ferromagnetic thrombosis are described in detail.

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Hearing aid fitting in children with profound sensorineural hearing loss (greater than 90 dB) has been regarded as problematic because of the risk of a further hearing aid induced damage. Maximal output levels of 125 dB (SPL) were the upper limit in such cases. We believe, that the danger of a further damage to hearing as a consequence of too high output levels has been overestimated. We therefore offer a strategy which may make it possible, to benefit from high output levels (up to 140 dB (SPL)) and at the same time may reduce the risk of further hearing damage. Furthermore the limit between hearing aid fitting an cochlear implantation is discussed.

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The early detection of auditory dysfunction in neonates and infants is important for the development of language and other cognitive abilities. The registration of evoked otoacoustic emissions is a new way of detecting cochlear hearing disorders. Results in high-risk infants are reported. Evoked otoacoustic emissions promise to be a fast and noninvasive technique to screen auditory dysfunctions in newborns and high-risk infants.

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Ninety-five ears of 53 infants at high risk for hearing impairment were examined using brainstem-evoked response audiometry (BERA), stapedial reflex audiometry (SRA) and click-evoked otoacoustic emissions (EOAEs). By taking BERA as a reference, the results obtained were compared in order to evaluate the significance of EOAEs for auditory screening. EOAEs were present in more than 90% of the ears when the BERA threshold was below 30 dB. In this group of infants, the stapedial reflex was positive in about 80% of the ears examined. In contrast, EOAEs were never observed with BERA thresholds exceeding 40 dB. In several cases with BERA thresholds above 30 dB, elevated SRA values could also be recorded. A further advantage of EOAEs and SRA was a recording time of less than 3 min. Since the non-invasive recording of EOAEs was fast and easy to perform and the results obtained were reproducible, we conclude that click-evoked otoacoustic emissions are a reliable technique for demonstrating normal cochlear function.

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Electromyography of the larynx has been increasingly used during recent years in the diagnosis and differential diagnosis of laryngeal motility disorders. The method is routinely employed at the university ENT department in Göttingen. The qualitative experience gained with regard to the diagnostic and prognostic value of electromyography in the region of the larynx is described and compared with the results and experience reported so far in the literature.

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We report on our clinical experience with the so-called temporary injection of the vocal cords by means of gelatin paste (Gelfoam) application, performed on 24 patients. In a fairly high percentage of patients we noted a long-lasting positive result in respect of vocal performance, despite persisting vocal cord paresis. It is believed that in such cases the relatively slow absorption of the gelatin paste creates favourable conditions for spontaneous phonatory compensation.

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Following a general description of pathophysiological changes of an injured peripheral nerve, a survey is presented in which those electrodiagnostic tests that are of practical relevance today in cases of facial and recurrent nerve pareses, are defined and the methods used are described (electromyography, neuromyography, blink reflex, reflex myography of the larynx). Typical electrodiagnostic findings are explained and demonstrated, using examples from our own case material. The relative merits and diagnostic efficiency of separate and combined findings are discussed.

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This paper reports on our experience with electromyography of the larynx in pareses of the recurrent nerve of different causes. Clinical case histories are used to demonstrate the differentiated evaluation of the condition of the damaged recurrent nerve which is possible with the use of electromyography, including reflex electromyography, of the larynx. Knowledge of the type and extent of the lesion of the recurrent nerve only allows limited conclusions to be made about the prognosis of the paresis. For the assessment of the prognosis it is necessary to consider not only the basic disease, but also the actual time at which the electromyography was performed.

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One of the most important problems involved in rehabilitation surgery of the recurrent nerve arises from the fact that this nerve carries fibers displaying antagonistic activities which is an accordance with the different functions of the larynx as an organ of phonation, respiration and swallowing. As a consequence of random reinnervation of the internal laryngeal musculature taking place after reconstruction of the N. recurrens, the complicated sequence of vocal cord movements, varying with the different functions of the larynx, cannot be restituted in its proper order. To avoid such functional failures, a method for selective reinnervation of the M. posticus as the most important glottis opener on the one hand, and of the glottis-closing musculature on the other, was tested in animal experiments. Two different anastomoses are forming the basis of the experimental model. 1. Phrenicus-ramus posterior anastomosis for reinnervation of the M. posticus. 2. Recurrens-ramus anterior anastomosis for reinnervation of the adductors. The results show that successful reinnervation of the abductor by means of the phrenic nerve, and of the adductors by means of the recurrence nerve separated from the vagus, can be achieved, and that this reinnervation also permits satisfactory phase-synchronous regulation.

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Multidiscipline roles in diagnostics and therapy of speech and voice disorders of childhood are practised by the otorhinolaryngologist, the psychologist and the logopedist. The psychologist in the phoniatric practise had additional tasks which include preparing the patient for the examination, consultation and prevention. As a contribution to the differential diagnosis, psychological examination of a patient's intelligence and the level of his learned vocabulary are necessary. The psychodiagnostics of cerebral dysfunctions are of great importance and are discussed in depth in studying language disorders of childhood.

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