Effects of a conservative in-patient voice treatment on the voice-related self-concept.

PURPOSE: Observational study to determine if the voice-related self-concept as measured via the Fragebogen zur Erfassung des Stimmlichen Selbstkonzepts FESS (questionnaire for the assessment of the voice self-concept) can be improved through in-patient voice therapy. METHODS: 234 female and 80 male patients that underwent an intensive 3- to 4-week in-patient voice treatment due to varying types of dysphonia. After imputation of missing items but not missing questionnaires, 255 patients were eligible for FESS evaluation, 313 for VHI-12 evaluation. The German questionnaire for the assessment of the voice self-concept (FESS) and the German 12-item short-form of the Voice Handicap Index (VHI-12) were administered at the beginning and at the end of the hospital stay. Before-after comparisons are made visually and via t test. RESULTS: The Voice Handicap was significantly reduced, demonstrating the effectiveness of the administered therapy. Of the three scales of the FESS, the relationship with one's own voice and the awareness of the use of one's own voice was increased and thus improved. The connection between voice and emotional changes decreased significantly but only slightly. CONCLUSION: Conservative voice rehabilitation can not only reduce the voice handicap, but also improve the voice self-concept and the results can be measured.

[Long-term course after inpatient speech therapy: educational and language development of children with severe specific language impairment (SLI)]. / Langzeitverlauf nach stationärer Sprachtherapie: schulische und sprachliche Entwicklung von Kindern mit schwerer spezifischer Sprachentwicklungsstörung (SES).

BACKGROUND: Studies from primarily English-speaking countries have shown that specific language impairments can lead to disadvantages in educational and professional development. Corresponding studies for Germany have not been published. This study surveys the educational and language outcomes of adolescents and young adults who were treated in an inpatient setting during childhood. MATERIALS AND METHODS: A total of 193 young adults who had received inpatient treatment between 1998 and 2005 at the Department of Communication Disorders of the Department of Otorhinolaryngology, Head, and Neck Surgery (ENT) of the Mainz University Medical Center were assessed. The cohort was contacted by telephone and interviewed about aspects of their educational and language development using a specially developed questionnaire. It was possible to include 70 participants in the study. RESULTS: Almost half (48.6%; n = 34) of the participants had attended a regular elementary school and 50% (n = 35) attended a special school with a focus on speech-language development (others: 1.4%, n = 1). Regarding school-leaving qualifications, 31.5% (n = 22) finished school with an Abitur/Fachabitur (high-school-level certificate), 33% (n = 23) with a Realschulabschluss (secondary school certificate), 30% (n = 21) with a Hauptschulabschluss (lower secondary certificate), and 4% (n = 3) with a special school certificate. Only one participant left school without a qualification. Of the interviewed participants, 71% (n = 50) do not feel any speech language limitations anymore. CONCLUSION: The results indicate a positive educational and language development of children with SLI after inpatient treatment in Germany. Over 90% of the participants finished school with a regular certification and most of them do not feel any speech and language limitations anymore.

[Outcome of Phoniatric Rehabilitation of Dysphagia in Patients with Head and Neck Cancer]. / Beeinflussung von strukturellen Dysphagien durch eine phoniatrische Rehabilitation.

Surgical and nonsurgical management options for head and neck cancer frequently lead to impaired swallowing. Swallowing outcome can be assessed using subjective measures like inventories or applying clinical assessments concerning food selection, eating duration or the necessity of a percutaneous endoscopic gastrostomy (PEG) and instrumental assessments like fiberoptic endoscopic evaluation of swallowing (FEES).The objective of this study was to investigate the outcomes of an in-patient rehabilitation in patients with dysphagia after the treatment of head and neck cancer. At the begin and after completion of this treatment 219 participants (138 male) aged 62.8 ±â€Š10.2 years completed the German version of the Eating Assessment Tool (EAT-10). Integrating anamnestic and clinical assessment data a rating following the Bogenhausener Dysphagiescore (BODS) was conducted at both times.Swallowing function improved significantly in both assessments, but both parameters were only moderately correlated. Improvements in both parameters were not correlated.Both dimensions of dysphagia, expert assessment and subjective measures should be used complementary.

[Training Curriculum for the Certificate "Diagnostics and Therapy of Oropharyngeal Dysphagia, including FEES", of the German Society for Phoniatrics and Pedaudiology and the German Society for Otolaryngology, Head and Neck Surgery]. / Ausbildungscurriculum zum Zertifikat "Diagnostik und Therapie oropharyngealer Dysphagien, inklusive FEES" der Deutschen Gesellschaft für Phoniatrie und Pädaudiologie und der Deutschen Gesellschaft für Hals-Nasen-Ohren-Heilkunde, Kopf- und Hals-Chirurgie.

BACKGROUND: In Germany, about 5 million people of all ages suffer from dysphagia. Due to demographic change and improved medical care, the incidence of swallowing disorders is expected to increase. Dysphagia is associated with an increased morbidity and mortality and leads to a considerable financial burden on the health systems. The two most common causes of dysphagia are neurological disorders and head and neck cancer. Diagnostics and therapy have developed continuously over the past decades. In particular, the flexible endoscopic evaluation of swallowing (FEES) has become an established part of dysphagia diagnostics. RESULTS: The certificate "Diagnostics and Therapy of Oropharyngeal Dysphagia, incl. FEES" was developed by the German Society for Phoniatrics and Pedaudiology (DGPP) and the German Society for Otolaryngology, Head and Neck Surgery (DGHNO KHC) in cooperation with the German Professional Association for Phoniatrics and Pedaudiology and the German Professional Association of Otolaryngologists.It consists of three parts: the modules (A, B and C), the indirect supervision and a practical examination. Structure, detailed contents and requirements for obtaining the certificate are described in the following article. The qualification of the lecturers and auditors are also defined. CONCLUSION: The systematic training serves the quality assurance and establishment of standards in the diagnostics and therapy of oropharyngeal dysphagia in the area of phoniatrics and ear, nose and throat medicine.

Validation of the second version of the LittlEARS® Early Speech Production Questionnaire (LEESPQ) in German-speaking children with normal hearing.

INTRODUCTION: The introduction of neonatal hearing screening and the increasingly early age at which children can receive a cochlear implant has intensified the need for a validated questionnaire to assess the speech production of children aged 0‒18. Such a questionnaire has been created, the LittlEARS® Early Speech Production Questionnaire (LEESPQ). This study aimed to validate a second, revised edition of the LEESPQ. METHODS AND MATERIALS: Questionnaires were returned for 362 children with normal hearing. Completed questionnaires were analysed to determine if the LEESPQ is reliable, prognostically accurate, internally consistent, and if gender or multilingualism affects total scores. RESULTS: Total scores correlated positively with age. The LEESPQ is reliable, accurate, and consistent, and independent of gender or lingual status. A norm curve was created. DISCUSSION: This second version of the LEESPQ is a valid tool to assess the speech production development of children with normal hearing, aged 0‒18, regardless of their gender. As such, the LEESPQ may be a useful tool to monitor the development of paediatric hearing device users. CONCLUSION: The second version of the LEESPQ is a valid instrument for assessing early speech production of children aged 0‒18 months.

[Swallowing Disorders in Tracheo(s)tomized Patients]. / Schluckstörungen bei tracheo(s)tomierten Patienten.

Objective Since many years it has been conjectured that tracheotomy/tracheostomy interferes with swallowing and leads to a higher risk of aspiration. The aim of this review was to contribute to the discussion whether there is a causal relationship between tracheotomy/tracheostomy and dysphagia or only a chronological concomitance. Material and Methods Citations for this review rest upon a research in PubMed data base of the National Center for Biotechnology Information (NCBI). Results Effects of tracheostomy/tracheotomy as well as effects of different cannulas on motoric and sensory aspects of deglutition have been reviewed. Most papers focused on aspiration. Reported data were extremely heterogeneous. Finally no causal relationship between tracheotomy and dysphagia could be demonstrated. Conclusions Tracheo(s)tomized patients require a special awareness in respect to concomitant dysphagia. However, swallowing problems are considered to be primarily caused rather by underlying diseases than by the existence of the tracheostomy itself.

Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene.

OBJECTIVE: PDZD7 was identified in 2009 in a family with apparent nonsyndromic sensorineural hearing loss. However, subsequent clinical reports have associated PDZD7 with digenic Usher syndrome, the most common cause of deaf-blindness, or as a modifier of retinal disease. No further reports have validated this gene for nonsyndromic hearing loss, intuitively calling correct genotype-phenotype association into question. This report describes a validating second case for biallelic mutations in PDZD7 causing nonsyndromic mild to severe sensorineural hearing loss. It also provides detailed audiometric and ophthalmologic data excluding Usher syndrome in both the present proband (proband 1) and the first proband described in 2009 (proband 2). DESIGN: Proband 1 was sequenced using a custom-designed next generation sequencing panel consisting of 151 deafness genes. Bioinformatics analysis and filtering disclosed two PDZD7 sequence variants (c.1648C>T, p.Q550* and c.2107del, p.S703Vfs*20). Segregation testing followed in the family. For both probands, audiograms were collected and analyzed for progressive hearing loss and detailed ophthalmic evaluations were performed including electroretinography. RESULTS: Proband 1 demonstrated a prelingual, nonsyndromic, sensorineural hearing loss that progressed in the higher frequencies between 4 and 9 years old. PDZD7 segregation analysis confirmed biallelic inheritance (compound heterozygosity). Mutation analysis determined the c.1648C>T mutation as novel and reported the c.2107del deletion as rs397516633 with a calculated minor allele frequency of 0.000018. Clinical evaluation spanning well over a decade in proband 2 disclosed bilateral, nonprogressive hearing loss. Both probands showed healthy retinas, excluding Usher syndrome-like changes in the eye. CONCLUSIONS: PDZD7 is confirmed as a bona fide autosomal recessive nonsyndromic hearing loss gene. In both probands, there was no evidence of impaired vision or ophthalmic pathology. As the current understanding of PDZD7 mutations bridge Mendelian and complex phenotypes, the authors recommend careful variant interpretation, since PDZD7 is one of many genes associated with both Usher syndrome and autosomal recessive nonsyndromic hearing loss. Additional reports are required for understanding the complete phenotypic spectrum of this gene, including the possibility of high-frequency progression, as well as noise-induced hearing loss susceptibility in adult carriers. This report rules out all forms of Usher syndrome with an onset before 12 and 15 years old in probands 1 and 2, respectively. However, due to the young ages of the probands, this report is uninformative regarding older patients.

Articulation handicap index: an instrument for quantifying psychosocial consequences of impaired articulation.

Structural, neurological and muscular diseases can lead to impairments of articulation. These impairments can severely impact social life. To judge health status comprehensively, this impact must be adequately quantified. For this purpose, the articulation handicap index (AHI) has been developed. Psychometric analyses referring to this index are presented here. The AHI was completed by 113 patients who had undergone treatment of tumours of the head or neck. The patients also gave a general self-assessment of their impairments due to articulation problems. Furthermore, tumour size, tumour location and kind of therapy were recorded. Missing data were analysed and replaced by multiple imputation. Internal structure was investigated using principal component analysis (PCA); reliability using Cronbach's alpha. Validity was investigated by analysing the relationship between AHI and general self-assessment of impairments. Moreover, the relationships with tumour size, tumour location and kind of therapy were analysed. Only 0.12 % of the answers to the AHI were missing. The Scree test performed with the PCA results suggested one-dimensionality with the first component explaining 49.6 % of the item variance. Cronbach's alpha was 0.96. Kendall's tau between the AHI sum score and the general self-assessment was 0.69. The intervals of AHI sum scores for the self-assessment categories were determined with 0-13 for no, 14-44 for mild, 46-76 for moderate, and 77-120 for severe impairment. The AHI sum score did not systematically relate to tumour size, tumour location or kind of therapy. The results are evidence for high acceptance, reliability and validity.

The participants' perspective: how biographic-narrative intervention influences identity negotiation and quality of life in aphasia.

BACKGROUND: People with aphasia experience a pronounced decrease in quality of life (QoL). Beyond that identity negotiation is hindered, which is crucial for QoL. Biographic-narrative approaches use life story telling to support identity (re)development after disruptive events like stroke. Because of the language deficits inherent in aphasia such 'talk-based' approaches have to be modified for an optimal use. AIMS: To evaluate an adapted interdisciplinary biographic-narrative intervention using quantitative measures of health-related quality of life (HRQL) and mood. Additionally, semi-structured interviews were conducted to gain a deeper understanding of identity development processes in people with aphasia. METHODS & PROCEDURES: Twenty-seven participants with various types of chronic aphasia were enrolled. The biographic narrative intervention consisted of five face-to-face in-depth interviews and seven group sessions conducted over 10 weeks in a mixed-method design with pre- and post-tests and a follow-up assessment 3 months post-intervention. For quantitative evaluation the Aachen Life Quality Inventory (ALQI), the Satisfaction with Life Scale (SWLS) and the Visual Analog Mood Scales (VAMS) were used. Semi-structured interviews were conducted post-treatment, including questions concerning the participants' experiences with the intervention and identity change. Results were analysed using interpretative principles from Grounded Theory. OUTCOMES & RESULTS: For all 27 participants, we found significant and stable growth in HRQL. Self-reported states of mood also improved. As expected, overall cognitively based life satisfaction did not change. The interviews revealed two main categories: 'evaluation of the face-to-face interviews' and 'evaluation of the group sessions'. Further analysis found four overlapping main themes which were identified as identity issues: agency, control, disease concept and doing things. CONCLUSIONS & IMPLICATIONS: Our quantitative and qualitative results demonstrated the benefits associated with the biographic-narrative intervention. The participants' sense of self changed through the approach. The findings provide foundations for future work using biographic narrative interventions to influence QoL and identity renegotiation in people with aphasia.

Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations.

PURPOSE: Targeted next-generation sequencing provides a remarkable opportunity to identify variants in known disease genes, particularly in extremely heterogeneous disorders such as nonsyndromic hearing loss. The present study attempts to shed light on the complexity of hearing impairment. METHODS: Using one of two next-generation sequencing panels containing either 80 or 129 deafness genes, we screened 30 individuals with nonsyndromic hearing loss (from 23 unrelated families) and analyzed 9 normal-hearing controls. RESULTS: Overall, we found an average of 3.7 variants (in 80 genes) with deleterious prediction outcome, including a number of novel variants, in individuals with nonsyndromic hearing loss and 1.4 in controls. By next-generation sequencing alone, 12 of 23 (52%) probands were diagnosed with monogenic forms of nonsyndromic hearing loss; one individual displayed a DNA sequence mutation together with a microdeletion. Two (9%) probands have Usher syndrome. In the undiagnosed individuals (10/23; 43%) we detected a significant enrichment of potentially pathogenic variants as compared to controls. CONCLUSION: Next-generation sequencing combined with microarrays provides the diagnosis for approximately half of the GJB2 mutation-negative individuals. Usher syndrome was found to be more frequent in the study cohort than anticipated. The conditions in a proportion of individuals with nonsyndromic hearing loss, particularly in the undiagnosed group, may have been caused or modified by an accumulation of unfavorable variants across multiple genes.

A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant].

BACKGROUND: We report on a 6-year-old Turkish boy with profound sensorineural deafness, balance disorder, severe disorder of oral motor function, and mild developmental delay. Further findings included scaphocephaly, plagiocephaly, long palpebral fissures, high narrow palate, low-set posteriorly rotated ears, torticollis, hypoplastic genitalia and faulty foot posture. Parents were consanguineous. METHODS AND RESULTS: Computed tomography and magnetic resonance imaging showed bilateral single widened cochlear turn, narrowing of the internal auditory canal, and bilateral truncation of the vestibulo-cochlear nerve. Microarray analysis and next generation sequencing showed a homozygous deletion of chromosome 5q31.1 spanning 115.3 kb and including three genes: NEUROG1 (encoding neurogenin 1), DCNP1 (dendritic cell nuclear protein 1, C5ORF20) and TIFAB (TIFA-related protein). The inability to chew and swallow, deafness and balance disorder represented congenital palsies of cranial nerves V (trigeminal nerve) and VIII (vestibulo-cochlear nerve) and thus a congenital cranial dysinnervation disorder. CONCLUSIONS: Based on reported phenotypes of neurog1 null mutant mice and other vertebrates, we strongly propose NEUROG1 as the causative gene in this boy. The human NEUROG1 resides within the DFNB60 locus for non-syndromic autosomal recessive deafness on chromosome 5q22-q31, but linkage data have excluded it from being causative in the DFNB60 patients. Given its large size (35 Mb, >100 genes), the 5q22-q31 area could harbor more than one deafness gene. We propose NEUROG1 as a new gene for syndromic autosomal recessive hearing loss and congenital cranial dysinnervation disorder including cranial nerves V and VIII.

Late consequences of traumatic rupture of the diaphragm.

A 54-year-old man was admitted to our clinic due to elevated γ-glutamyltransferase, without any clinical symptoms. About 25 years ago, he had undergone blunt abdominal and thoracic trauma during an accident. No diagnostic measures or therapy had been performed at that time. Serum bilirubin was normal, but the values for alanine transaminase, aspartate transaminase, and alkaline phosphatase were slightly above the reference range. Sonography of the abdomen revealed dilated intrahepatic bile ducts up to 3 mm in diameter and steatosis of the liver grade I. CT scan and MRI of the thorax and abdomen showed a giant hiatal hernia with transposition of upper abdominal organs into the chest. As the patient presented clinically completely asymptomatic, without dyspnea, dysfunction of phonation or ingestion, we decided a conservative treatment with Ursodesoxycholic acid. The liver values resolved with this regimen gradually. At follow-up examination 1 year later, they had normalized. Spirometry showed a reduced lung capacity (3.44 L; 64.4% of the desired value) and a reduced FEV1 (forced expiratory volume in one second) of 2.84 L (70.2% of the desired value). Further diagnostics revealed normal otorhinolaryngological and phoniatric findings including stroboscopy of the vocal folds and voice range profile.

Hearing loss in patients with mucopolysaccharidosis II: data from HOS - the Hunter Outcome Survey.

BACKGROUND: Subjectively reported hearing loss is a common feature of mucopolysaccharidosis II (MPS II, Hunter syndrome). This study provides an epidemiological description of hearing loss and other otolaryngological manifestations reported by patients registered in the Hunter Outcome Survey (HOS), an international registry of patients with MPS II. METHODS: Data about ear signs and symptoms were available for 554 of the 605 patients alive at HOS entry. The degree of hearing loss for 162 pure-tone audiograms (PTAs) from 83 patients was classified by independent interpreters using both the age-specific International Institute of Standardization (ISO) 7029 standard and the age-independent World Health Organization (WHO) clinical guidelines. A linear regression analysis using cross-sectional data was conducted to investigate the relationship between hearing loss and age. RESULTS: The most prevalent otolaryngological manifestations and interventions reported were otitis (either acute otitis media or chronic otitis media [72%]), hearing loss (67%), insertion of ventilation tubes (50%), adenoidectomy (47%), and hearing aids (41%). According to the ISO standard, only one patient out of the 83 with audiogram data in HOS had normal hearing in both ears at all time points. According to the WHO classification, 16% had normal hearing; hearing loss was mild in 24%, moderate in 31%, severe in 22%, and profound in 7%. In the linear regression analysis, the hearing threshold in the cohort increased with age at an estimated rate of approximately 1 dB per year. CONCLUSIONS: Hearing impairment is common in MPS II. Early otolaryngological evaluation and intervention is recommended.

Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment.

A homozygous reciprocal translocation, 46,XY,t(10;11),t(10;11), was detected in a boy with non-syndromic congenital sensorineural hearing impairment. Both parents and their four other children were heterozygous translocation carriers, 46,XX,t(10;11) and 46,XY,t(10;11), respectively. Fluorescence in situ hybridization of region-specific clones to patient chromosomes was used to localize the breakpoints within bacterial artificial chromosome (BAC) RP11-108L7 on chromosome 10q24.3 and within BAC CTD-2527F12 on chromosome 11q23.3. Junction fragments were cloned by vector ligation and sequenced. The chromosome 10 breakpoint was identified within the PDZ domain containing 7 (PDZD7) gene, disrupting the open reading frame of transcript PDZD7-C (without PDZ domain) and the 5'-untranslated region of transcript PDZD7-D (with one PDZ and two prolin-rich domains). The chromosome 11 breakpoint was localized in an intergenic segment. Reverse transcriptase-polymerase chain reaction analysis revealed PDZD7 expression in the human inner ear. A murine Pdzd7 transcript that is most similar in structure to human PDZD7-D is known to be expressed in the adult inner ear and retina. PDZD7 shares sequence homology with the PDZ domain-containing genes, USH1C (harmonin) and DFNB31 (whirlin). Allelic mutations in harmonin and whirlin can cause both Usher syndrome (USH1C and USH2D, respectively) and congenital hearing impairment (DFNB18 and DFNB31, respectively). Protein-protein interaction assays revealed the integration of PDZD7 in the protein network related to the human Usher syndrome. Collectively, our data provide strong evidence that PDZD7 is a new autosomal-recessive deafness-causing gene and also a prime candidate gene for Usher syndrome.

Long-term functional outcome after unilateral cordectomy.

PURPOSE OF THE STUDY: Our aim was to longitudinally analyze the vocal outcome after endoscopic CO(2) laser resection of early glottic carcinoma. PROCEDURES: Sixteen patients treated with laser surgery for T1 or T2 tumors of the vocal cords received voice therapy and were examined 1, 2, 3, 4.5, 6 and 12 months postoperatively. Besides videolaryngostroboscopy, each examination included history, phonetogram of the speaking and the singing voice, language-specific hoarseness diagram and a questionnaire (Voice Handicap Index 12 in German). RESULTS: Objective parameters demonstrated a broad variability with a slight tendency of improvement over time. For the maximal phonation time a nearly constant improvement was seen. After an initial improvement deterioration for subjective assessment in the Voice Handicap Index was noted in most patients 3-6 months postoperatively. CONCLUSIONS: The functional outcome after cordectomy is variable. MESSAGE OF THE PAPER: Discrepancies between objective findings and patient satisfaction over time have to be considered after cordectomy.

The Articulation Handicap Scale with 12 items (AHS-12): a short form of the Articulation Handicap Index (AHI).

OBJECTIVE: The objective is to produce a short instrument for measuring the subjectively experienced articulation handicap, i.e. the extent to which physical, functional, and emotional handicaps caused by a physical deficit are subjectively experienced. METHODS: The items for the short instrument were selected from the 30 items of the Articulation Handicap Index (AHI) by removing items on the basis of item-total correlations using data from 113 cancer survivors. Reliability and validity of the sum score of the corresponding item selection were used for determining the optimal item selection. This optimal item selection was compared with the AHI in an RCT with patients undergoing phoniatric routine diagnostics. RESULTS: With only 12 items left, the measurement instrument was still as reliable and valid as the AHI. With less than 12 items, reliability and validity decreased. In the RCT between the AHI (n = 41) and the 12-item selection (n = 40), reliability and validity of both instruments were the same, but processing times differed (AHI; 3.84 min; 12-item selection: 2.02 min). CONCLUSION: The 12-item selection, further referred to as the Articulation Handicap Scale with 12 items (AHS-12), provides nearly as much information as the original AHI.

Cross-Validation and Normative Values for the German Vocal Tract Discomfort Scale.

Purpose The Vocal Tract Discomfort Scale (VTD Scale) is a self-rating questionnaire investigating physical symptoms in the larynx associated with vocal pathology. The aim of this work was to investigate the reliability, validity, sensitivity, and specificity of the first German version and to provide normative data with thresholds for pathology and a scaling scheme. Study Design A retrospective multicenter study was performed. Method A total of 571 participants (409 female and 162 male), with a mean age of 47.2 years, were recruited at three German centers; of these, there were 447 participants with voice disorder and 124 vocally healthy participants. The clinical examination consisted of patient history, visual laryngeal examination, acoustic and aerodynamic assessment, perceptual analysis by the Grading-Roughness-Breathiness-Asthenia-Strain Scale, and subjective evaluation using the VTD Scale and the Voice Handicap Index (VHI). Statistics included group comparisons (t test and analysis of variance), Pearson correlation coefficient (between VTD Scale and VHI), and Cronbach's alpha to assess validity and reliability. Analysis of receiver operating characteristics was performed to examine VTD Scale's discriminatory ability and provide a cutoff score. Additionally, percentiles were applied to provide VTD Scale ranges. Results There were highly significant differences between healthy participants and participants with voice disorder regarding the total score and both subscales of the VTD Scale. Internal consistency was excellent (α = .928). We found moderate, positive correlation between the VTD Scale and VHI (ρ = .596, p < .001). Receiver operating characteristics analysis showed an area under the curve of 0.876 (p < .001, 95% confidence interval [0.846, 0.906]). VTD Scale ranges were no (score: 0-13), mild (score: 14-26), moderate (score: 27-40), and severe (score: 41-96) disorder. Conclusions Results confirm an excellent reliability and validity of the German VTD Scale. It provides additional and independent diagnostic information and is a useful instrument to complement voice assessment. The scaling into four severity subgroups allows the tool to be used for screening patients and considers a transferral to a voice specialist.

GJB2 mutations and genotype-phenotype correlation in 335 patients from germany with nonsyndromic sensorineural hearing loss: evidence for additional recessive mutations not detected by current methods.

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.

Advantages of a non-linear frequency compression algorithm in noise.

A multichannel non-linear frequency compression algorithm was evaluated in comparison to conventional amplification hearing aids using a test of speech understanding in noise (Oldenburger Satztest-OLSA) and subjective questionnaires. The new algorithm compresses frequencies above a pre-calculated cut off frequency and shifts them to a lower frequency range, thereby providing high-frequency audibility. Low-frequencies, below the compression cut off frequency, are amplified normally. This algorithm is called SoundRecover (SR). In this study, 11 experienced hearing aid users with a severe to profound sensorineural hearing loss were tested. Seven subjects showed enhanced levels of understanding in noise (OLSA) using frequency compression. However, 4 out of the 11 subjects could not benefit from the high-frequency gain. Evaluation using questionnaires demonstrated an increased level of satisfaction after 2 months of experimental devices wearing (p = 0.08) and after 4 months of wearing (p = 0.09), respectively, compared to conventional hearing instruments.

Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder.

We report on a 7-year-old girl with unequivocal features of Barber-Say syndrome (BSS): generalized hypertrichosis especially at the back, dry lax skin, macrostomia, thin lips, cup-shaped ears, bulbous nose, hypoplastic nipples, and abnormal external genitalia. She also demonstrated conductive hearing impairment and microblepharon. BSS has been reported with ectropion (not present in our patient), but ablepharon and microblepharon (i.e., absent or hypoplastic eyelids) have always been considered as hallmarks of ablepharon macrostomia syndrome (AMS). This is the first report of microblepharon in BSS. Other authors have discussed that BSS and AMS could possibly represent one syndrome, and our report supports this hypothesis.