Wir berichten über einen 02/2011 geborenen Jungen konsanguiner (Cousin, ­Cousine), türkischer Eltern, der im Neugeborenen-Hörscreening mittels TEOAE (Transitorisch Evozierte Otoakustische Emissionen) und automatisierter Hirnstammaudiometrie (AABR – Automated Auditory Brainstem Response) auffiel. ­Familienanamnestisch waren multiple Fehlgeburten bekannt. Bei dem Jungen zeigten sich bei der Erstvorstellung im ­Alter von 9 Monaten folgende Symptome: bisher ausbleibende Sprachentwicklung – keine Produktion von ­Lallen oder Doppelsilben, Mikrotie mit Apostasis otum (Koncha-Mastoid-­Winkel>30°) und Verkürzung des oberen Anteils der Ohrmuschel ([Abb. 1a, b]) bei regelrechter Anlage der Gehörgänge und der Trommelfelle. Der ohrmikroskopische Befund sowie die übrigen Befunde von Nase, Mund und Oropharynx waren unauffällig. Zusätzlich fand sich eine statomotorische Entwicklungsverzögerung (bisher kein Sitzen oder Wenden vom ­Rücken auf den Bauch) bei ausgeprägter muskulärer Hypotonie (wenig Kopfkon­trolle) bei ansonsten unauf­fälligen Befunden der Extremitäten, des Genitales, keine Pigmentanomalien. Später zeigte sich eine ausgeprägte ­Neurodermitis, eine Dysphagie für feste Speisen (tägliche Kalorienzufuhr von max. 600 kcal), multiple Allergien und Nahrungsmittel-Unverträglichkeiten (für Milch, Ei, Soja, Gluten, Nüsse, Rindfleisch, Kartoffeln) und Mikrodontie (kleine ­Zähne) mit weit auseinander liegenden Zähnen.

Background: Aphasia is an acquired communication disorder that often involves receptive language abilities. After clinical assessment it is often not clear if this is partially due to a hearing loss, which can be compensated by hearing aids facilitating the rehabilitative process.Material and Methods: In the present study the hearing ability of 88 male and female patients with aphasia after stroke, all of whom suffered from a left-hemispheric ischemia was assessed in the rehabilitative setting.Results: We found that a majority of patients (72, 82%) was able to perform pure tone audiometry. 15 aphasic patients (21%) showed a hearing loss and were not fitted with hearing aids.Conclusion: Patients with aphasia are due to their central speech disorders in their communication skills limited, so that the therapeutic success is further reduced by an existing hearing loss. Due to the demographic development of our people and with the age increasing prevalence of hearing impairment hearing screening in the post-acute phase in aphasic patients is justified by pure tone audiometry.

The combination of sensorineural hearing loss and keratoderma on the hands and feet is rare. We report the case of a child that failed newborn hearing screening and also showed keratoderma on both hands and feet. The child's father exhibited the same constellation of symptoms, which is typical for mutilating keratoderma with deafness (Vohwinkel syndrome). This hereditary autosomal dominant disease is caused by mutation of the GJB2 gene that encodes the protein connexin 26. In our case it was highly likely that the GJB2 gene in the father carried a spontaneous mutation that was inherited by the daughter.

We report on a boy with non-syndromic hearing loss and an apparently balanced translocation t(10;15)(q26.13;q21.1). The same translocation was found in the normally hearing brother, father and paternal grandfather; however, this does not exclude its involvement in disease pathogenesis, for example, by unmasking a second mutation. Breakpoint analysis via FISH with BAC clones and long-range PCR products revealed a disruption of the arginyltransferase 1 (ATE1) gene on translocation chromosome 10 and the solute carrier family 12, member 1 gene (SLC12A1) on translocation chromosome 15. SNP array analysis revealed neither loss nor gain of chromosomal regions in the affected child, and a targeted gene enrichment panel consisting of 130 known deafness genes was negative for pathogenic mutations. The expression patterns in zebrafish and humans did not provide evidence for ear-specific functions of the ATE1 and SLC12A1 genes. Sanger sequencing of the 2 genes in the boy and 180 GJB2 mutation-negative hearing-impaired individuals did not detect homozygous or compound heterozygous pathogenic mutations. Our study demonstrates the many difficulties in unraveling the molecular causes of a heterogeneous phenotype. We cannot directly implicate disruption of ATE1 and/or SLC12A1 to the abnormal hearing phenotype; however, mutations in these genes may have a role in polygenic or multifactorial forms of hearing impairment. On the other hand, it is conceivable that our patient carries a disease-causing mutation in a so far unidentified deafness gene. Evidently, disruption of ATE1 and/or SLC12A1 gene function alone does not have adverse effects.

Background. Every year in Germany approximately 3,500 patients receive a cochlear implant or other hearing implants with an implantable magnet. At the same time more and more patients are examined by magnetic resonance imaging (MRI). For the indications and execution of this imaging modality a number of restrictions and safety measures have to be considered. This article is based on the restrictions of the manufacturers and a selective literature search in PubMed using the following keywords: MRI compatibility/MRI safety + cochlea implant/auditory brainstem implant/Bonebridge/Carina/Esteem/Otomag/Sophono alpha/Vibrand Soundbridge. We included all 20 publications of this search concerning the MRI compatibility of the hearing implants complemented by papers cited in the primary articles. High electromagnetic field intensities as used in MRI can cause malfunction and dislocation of the implant or the magnet in the device. Older cochlear implants (CI) and the current CIs produced by Advanced bionics without explantation of the magnet, some CI models produced by the company Cochlear and the middle ear implants CarinaA (R)/EsteemA (R) (older models) and Vibrant-SoundbridgeA (R) are not approved for MRI examinations. Other hearing prostheses are approved for 0.2 T, 1.0 T or 1.5 T MRI and in exceptional circumstances 3 T MRI. Recommendations of the manufacturers have to be followed, notably wearing a head bandage during the imaging procedure. The longitudinal axis of the patient's head has to be to positioned parallel to the main magnetic field of the scanner. The patient may not move the head laterally during the examination. Possible artefacts and the reduced validity of the results of skull MRI have to be considered when evaluating the indications for the examination. For patients wearing hearing implants with an implantable magnet the indications for MRI in devices with MRI certification should be rigorously restricted. Possible defects/dislocation of the implants may occur and the quality of the skull MRI images is reduced. A close contact between the radiologist and the implanting team is required. Other diagnostic procedure options should be exhausted before employing MRI.

In Deutschland werden jährlich ca. 3500 hörgeschädigte Patienten aller Altersgruppen mit meist teilimplantierten magnetversorgten Hörimplantaten operativ versorgt. Gleichzeitig ist eine Zunahme magnetresonanztomographischer Untersuchungen (MRT) zu verzeichnen. Bei der Indikationsstellung zur MRT-Untersuchung und bei deren Durchführung sind produktspezifische Verbote, Einschränkungen und Sicherheitsmaßnahmen zu beachten.

The definition of an auditory processing disorder (APD) is based on impairments of auditory functions. APDs are disturbances in processes central to hearing that cannot be explained by comorbidities such as attention deficit or language comprehension disorders. Symptoms include difficulties in differentiation and identification of changes in time, structure, frequency and intensity of sounds; problems with sound localization and lateralization, as well as poor speech comprehension in adverse listening environments and dichotic situations. According to the German definition of APD (as opposed to central auditory processing disorder, CAPD), peripheral hearing loss or cognitive impairment also exclude APD. The diagnostic methodology comprises auditory function tests and the required diagnosis of exclusion. APD is diagnosed if a patient's performance is two standard deviations below the normal mean in at least two areas of auditory processing. The treatment approach for an APD depends on the patient's particular deficits. Training, compensatory strategies and improvement of the listening conditions can all be effective.

Die Kombination von sensorineuraler Schwerhörigkeit und Keratosen an Händen und Füßen ist selten. Wir berichten im Folgenden über ein im Neugeborenen-Hörscreening aufgefallenes Kind, welches Keratosen an Händen und Füßen aufwies. Familienanamnestisch fiel beim Vater dieselbe Symptomkonstellation auf. Sie ist typisch für das Keratoma hereditarium mutilans, einer autosomal-dominant vererbten Erkrankung mit Mutation des Gens GJB2, welches für das Protein Connexin 26 kodiert und in unserem Fall höchstwahrscheinlich als Spontanmutation im Genom des Vaters an die Tochter vererbt wurde.

Analyze the progress of hearing and language in a group of children with cerebral palsy (CP) who have received cochlear implants (CI) and compare their progress in the clinical and functional domains.This is a prospective transdisciplinary study developed within a tertiary referral center, with a group of nine cochlear-implanted children with CP, two- to seven-year-old. The assessments undertaken included audiological, language, and communication assessments complemented by the assessment of functional abilities and the level of independence as evaluated by the Pediatric Evaluation of Disability Inventory (PEDI) and Gross Motor Function Classification System (GMFCS).The outcomes varied, as two children achieved hearing comprehension in open-set evaluations. These children presented the same type of CP, athetosis, but with different functional skills and GMFCS levels. Only one of the subjects had any spoken language at the single-word level.A holistic view of change and development is central to understanding progress made in children with CP who received cochlear implants (CI). The functional evaluation of these children with CP is a useful tool for monitoring their progress and measuring their outcomes with CI.

Background: After exclusion of morphologic laryngeal alterations by laryngoscopy the prospective study compared stroboscopy findings. using a flexible distal charge-coupled device chip-optic (CCD-optic) and a rigid 70 degrees - or 90 degrees -laryngoscope. Material and methods: 52 patients with functional dysphonia and 47 candidates for speech therapy education were checked with both examination methods. The stroboscopy results were rated randomized and pseudonymized by 3 experts assessed by a study protocol according to the European laryngological society basic protocol 2001. Results: The interrater-reliability was moderate to good. Using the flexible videolaryngoscopy less gaging, less supraglottic contraction during phonation, more often a complete glottal closure and more often a normal mucosal wave movement were found. Conclusion: To get an optimal endoscopy result the combination of rigid laryngoscopy and flexible videolaryngoscopy and -stroboscopy will be recommended. Because of the variety of stroboscopic findings for the diagnosis of functional dysphonia additional the case history and functional voice examinations are necessary.

Background: The present retrospective evaluation study examined treatment efficacy in preschool children with severe specific language impairments. Besides the efficacy of 2 inpatient treatment conditions, differing in periods and intensity of parent advice, will be compared.Material and Methods: 106 children (mean age: 72.1; SD 9.1 months) received 6 weeks of treatment with a traditional therapy en bloc (EB) and 78 children (mean age: 72.3; SD 10.4 months) with a new therapy in 3 intervals (I) respectively. Receptive language abilities, expressive vocabulary size and nonword repetition were utilized as language measures at the beginning and end of treatment.Results: In both treatment conditions, the children, on average, made significant gains in the outcome measures (p < 0.0001). En bloc-like interval therapy yielded big effects in receptive language abilities (EB: d = 0.89; 95 %-CI: 0.72-1.05 vs. I: d = 0.95; 95 %-CI: 0.71-1.19). Medium effect sizes (EB: d = 0.60; 95 %-CI: 0.48-0.72; I: d = 0.79; 95 %-CI: 0.61-0.98) resulted in expressive vocabulary, but rather minor ones in phonological processing (EB: d = 0.37; 95 %-CI: 0.22-0.52; I: d = 0.48; 95 %-CI: 0.28-0.67). No signifi cant post-intervention difference between the therapy modes was only observed in receptive language (95 %-CI of the difference at the end of treatment: -1.85-5.17).Conclusions: An intensive multidisciplinary approach with preschool children is justified when the children suffer from severe deficits in language comprehension and expressive vocabulary even after sufficient outpatient treatment.

We report on 335 patients (319 families) with mild-to-profound nonsyndromic sensorineural hearing loss. We identified 178 mutated GJB2 alleles representing 29 different sequence changes (including 3 novel mutations: Q7P, N14D, H100Q), and 2 alleles with the deletion del(GJB6-D13S1830) of the GJB6 gene. Eleven GJB2 mutations (119 mutated alleles) were truncating (T), and 18 mutations (59 alleles) were nontruncating (NT). Biallelic GJB2 mutations were found in 71 patients (21.2%; 67 families; 25 different genotypes). Audiograms of 62 patients (56 families) with biallelic GJB2 mutations typically indicated a profound hearing loss with T/T mutations, moderate hearing loss with T/NT mutations, and mild hearing impairment with NT/NT mutations (p < 0.01, Student's t test). From 37 patients (34 families) with biallelic GJB2 mutations, audiograms at different ages were available and indicated progressive hearing loss (>15 dB) in 10 patients (27.0%, 10 families). Interestingly, we identified an unexpectedly large subset of patients (n = 29; 8.7%) presenting with only one GJB2 mutation (n = 14 T/wild-type; n = 15 NT/wild-type). This strongly suggests the presence of additional recessive mutations that are not detected by current GJB2 mutation and GJB6 deletion analyses.

Maurizio Barbara, Rome Olivier Bertrand, Bron F. Owen Black, Portland Th omas Brandt, München Barbara Canlon, Stockholm John P. Carey, Baltimore Douglas A. Cotanche, Boston Cor W.R.J. Cremers, Nijmegen Norbert Dillier, Zürich Robert Dobie, Sacramento Manuel Don, Los Angeles Jill B. Firszt, St. Louis Andrew Forge, London Bernard Fraysse, Toulouse Rick Friedman, Los Angeles Bruce J. Gantz, Iowa City Pablo Gil-Loyzaga, Madrid Anthony W. Gummer, Tübingen James W. Hall III, Gainesville Joseph W. Hall III, Chapel Hill Michael Halmagyi, Camperdown Rudolf Häusler, Bern Vicente Honrubia, Los Angeles Gary D. Housley, Auckland Karl-Bernd Hüttenbrink, Köln Pawel J. Jastreboff , Atlanta Margaret A. Kenna, Boston Philippe P. Lefebvre, Liège Bernd Lütkenhöner, Münster Linda L. Luxon, London Geoff rey A. Manley, Oldenburg Alessandro Martini, Ferrara Jennifer R. Melcher, Boston Saumil N. Merchant, Boston Brian C.J. Moore, Cambridge David R. Moore, Nottingham Cynthia C. Morton, Boston Donata Oertel, Madison Kaoru Ogawa, Tokyo Stephen J. O’Leary, Parkville Alan R. Palmer, Nottingham Lorne S. Parnes, London, Ont. Jean-Luc Puel, Montpellier Ramesh Rajan, Monash Yehoash Raphael, Ann Arbor J. Th omas Roland, New York John J. Rosowski, Boston Rudolf Rübsamen, Leipzig Mario A. Ruggero, Evanston Leonard P. Rybak, Springfi eld Richard J. Salvi, Buff alo Robert V. Shannon, Los Angeles Guido F. Smoorenburg, Besse sur Issole Haim Sohmer, Jerusalem Olivier Sterkers, Clichy Istvan Sziklai, Debrecen Peter R. Th orne, Auckland Shin-ichi Usami, Matsumoto P. Ashley Wackym, Portland Tatsuya Yamasoba, Tokyo Fan-Gang Zeng, Irvine The Science of Hearing and Balance

(2010). Canonical Babbling and Early Hearing and Language Development of Normal Hearing Children and Children with Cochlear Implants. Cochlear Implants International: Vol. 11, Proceedings of the 9th European Symposium on Paediatric Cochlear Implantation, Warsaw, 2009, pp. 375-378.