WFS1 and GJB2 mutations in patients with bilateral low-frequency sensorineural hearing loss.

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WFS1 and GJB2 mutations in patients with bilateral low-frequency sensorineural hearing loss.

Laryngoscope. 2017 Mar 08;:

Authors: Kasakura-Kimura N, Masuda M, Mutai H, Masuda S, Morimoto N, Ogahara N, Misawa H, Sakamoto H, Saito K, Matsunaga T

Abstract
OBJECTIVE: Evaluating the prevalence of specific gene mutations associated with a certain audiometric configuration facilitates clinical assessment of patients with sensorineural hearing loss (SNHL). WFS1 is responsible for autosomal dominant nonsyndromic deafness 6/14/38 and is the most frequent genetic cause of low-frequency SNHL (LFSNHL); however, the exact prevalence of WFS1 mutations in LFSNHL is unknown. Therefore, we evaluated genetic mutations and clinical features in patients with nonsyndromic bilateral LFSNHL, focusing on the WFS1.
STUDY DESIGN: Retrospective case series from 2002 to 2013 at the National Hospital Organization Tokyo Medical Center and collaborating hospitals.
METHODS: WFS1, GJB2, and mitochondrial DNA mutation screening was carried out for 74 of 1,007 Japanese probands with bilateral LFSNHL.
RESULTS: WFS1 and GJB2 mutations were identified in eight of 74 cases (10.8%). Four cases had heterozygous WFS1 mutations; one case had a heterozygous WFS1 mutation and a heterozygous GJB2 mutation; and three cases had biallelic GJB2 mutations. Three cases with WFS1 mutations were sporadic; two of them were confirmed to be caused by a de novo mutation based on the genetic analysis of their parents. In the case with mutations in both WFS1 and GJB2, a de novo mutation of WFS1 was confirmed in the proband's mother by genetic screening of the mother's parents.
CONCLUSION: Genetic screening focusing on LFSNHL has not been conducted. The present study first revealed the prevalence of specific gene mutations. WFS1 autosomal dominant mutations were identified even in sporadic cases. Our results also suggested a mutational hotspot in WFS1.
LEVEL OF EVIDENCE: 4. Laryngoscope, 2017.

PMID: 28271504 [PubMed - as supplied by publisher]

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Two microphones spectral-coherence based speech enhancement for hearing aids using smartphone as an assistive device.

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Two microphones spectral-coherence based speech enhancement for hearing aids using smartphone as an assistive device.

Conf Proc IEEE Eng Med Biol Soc. 2016 Aug;2016:3670-3673

Authors: Reddy CK, Yiya Hao, Panahi I

Abstract
In this paper, we present a new Speech Enhancement (SE) technique capable of running on a smartphone, as an assistive device for hearing aids (HAs). The developed method incorporates the coherence between the speech and noise signals to obtain a SE gain function which is used in conjunction with the gain function obtained by Spectral Subtraction using adaptive gain averaging. SE using coherence based gain function is found to suppress the background noise well, while inducing speech distortion. On the other hand, SE using Spectral Subtraction improves speech quality with tolerable speech distortion, but introduces background musical noise for certain noise types. The weighted fusion of the two gain functions strikes a balance between noise suppression and speech distortion. Also it allows the user to control the weighting factor based on the noisy environment and their comfort level of hearing. The developed method is computationally fast and operates in real-time. The proposed method was evaluated for machinery, babble, and car noise types, using both objective and subjective measures for both quality and intelligibility of the enhanced speech. The results show significant improvements in comparison with stand-alone Spectral Subtraction with weighted gain averaging SE methods.

PMID: 28269090 [PubMed - in process]

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[Evaluation of the perceptual equivalence of test lists in the Freiburg monosyllabic speech test].

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[Evaluation of the perceptual equivalence of test lists in the Freiburg monosyllabic speech test].

HNO. 2016 Aug;64(8):572-83

Authors: Baljić I, Winkler A, Schmidt T, Holube I

Abstract
BACKGROUND: In the past, the perceptual balance of test lists for the Freiburg monosyllabic speech test (FBE) was frequently evaluated without producing consistent results. Until now, the studies used very diverse methods and did not accurately follow the standardized specifications. In this study, therefore, the perceptual equivalence of test lists was verified with a large group of participants according to the standard ISO EN 8253-3.
METHODS: A total of 160  suitable otologically normal subjects were recruited at two institutions, each of whom listened to all test lists of the FBE using predefined measurement conditions. The subjects were divided in three groups depending on the transducer used for test list presentation (headphones "HDA 200" and "TDH 39", as well as free-field loudspeaker, "FF"). Lists that deviated were identified using the approaches specified in the standard.
RESULTS: The reference curve for FBE was not met by any group. While the "HDA 200" group indicated 4.6 dB lower thresholds, results for the "TDH 39" and "FF" groups showed 1.2 and 2.5 dB higher thresholds, respectively. For an average speech recognition score of 44.3 %, test lists 5, 11, 12, and 15 lay outside the calculated tolerance range of 4.5 to -4.4 percent points. The same lists also deviated when calculating discrimination functions and therefore do not fulfill the criteria for perceptual equivalence.
DISCUSSION: In the future, lists identified as deviating from the norm should not be used. The results of this study only partly agree with results from former studies.

PMID: 27418349 [PubMed - indexed for MEDLINE]

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[The Freiburg monosyllable word test in postoperative cochlear implant diagnostics].

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[The Freiburg monosyllable word test in postoperative cochlear implant diagnostics].

HNO. 2016 Aug;64(8):601-7

Authors: Hey M, Brademann G, Ambrosch P

Abstract
BACKGROUND: The Freiburg monosyllable word test represents a central tool of postoperative cochlear implant (CI) diagnostics.
OBJECTIVES: The objective of this study is to test the equivalence of different word lists by analysing word comprehension. For patients whose CI has been implanted for more than 5 years, the distribution of suprathreshold speech intelligibility outcomes will also be analysed.
PATIENTS AND METHODS: In a retrospective data analysis, speech understanding for 626 CI users word correct scores were evaluated using a total of 5211 lists with 20 words each.
RESULTS: The analysis of word comprehension within each list shows differences in mean and in the kind of distribution function. There are lists which show a significant difference of their mean word recognition to the overall mean. The Freiburg monosyllable word test is easy to administer at suprathreshold speech level for CI recipients, and typically has a saturation level above 80 %.
CONCLUSION: The Freiburg monosyllable word test can be performed successfully by the majority of CI patients. The limited balance of the test lists elicits the conclusion that an adaptive test procedure with the Freiburg monosyllable test does not make sense. The Freiburg monosyllable test can be restructured by resorting all words across lists, or by omitting individual words of a test list to increase the reliability of the test. The results show that speech intelligibility in quiet should also be investigated in CI recipients al levels below 70 dB.

PMID: 27393292 [PubMed - indexed for MEDLINE]

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Audiologists' communication behaviour during hearing device management appointments.

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Audiologists' communication behaviour during hearing device management appointments.

Int J Audiol. 2017 Feb 26;:1-9

Authors: Muñoz K, Ong CW, Borrie SA, Nelson LH, Twohig MP

Abstract
OBJECTIVE: The aim of this exploratory study was to describe audiologist communication behaviours during appointments for hearing device monitoring and management before and after participation in counselling skills training.
DESIGN: The study used a longitudinal design with three assessment points over 6 months.
STUDY SAMPLE: The sample included 10 audiologists and audiology graduate students interacting in a professional setting with their clients.
RESULTS: Audiologists reported improvement in their counselling skills from pre-training to follow-up, which was consistent with objective findings that audiologist relative speaking time decreased from pre-training to post-training as well as from pre-training to follow-up. Observer-rated scores of participants' counselling skills; however, yielded no significant differences across time.
CONCLUSIONS: Some improvement was noted in audiologists' counselling behaviour following a 1-day communication skills workshop and continued learning support. It is evident; however, that further training, such as increased training and performance feedback, is needed to maintain and enhance audiologist progress in the various aspects of counselling.

PMID: 28266245 [PubMed - as supplied by publisher]

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Vestibular (dys)function in children with sensorineural hearing loss: a systematic review.

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Vestibular (dys)function in children with sensorineural hearing loss: a systematic review.

Int J Audiol. 2017 Feb 13;:1-21

Authors: Verbecque E, Marijnissen T, De Belder N, Van Rompaey V, Boudewyns A, Van de Heyning P, Vereeck L, Hallemans A

Abstract
OBJECTIVE: The objective of this study is to provide an overview of the prevalence of vestibular dysfunction in children with SNHL classified according to the applied test and its corresponding sensitivity and specificity.
DESIGN: Data were gathered using a systematic search query including reference screening.
STUDY SAMPLE: Pubmed, Web of Science and Embase were searched. Strategy and reporting of this review was based on the Meta-analysis of Observational Studies in Epidemiology (MOOSE) guidelines. Methodological quality was assessed with the COnsensus-based Standards for the selection of health Measurement INstruments (COSMIN) checklist.
RESULTS: All studies, regardless the applied vestibular test, showed that vestibular function differs significantly between children with hearing loss and normal hearing (p < 0.05). Compared with caloric testing, the sensitivity of the Rotational Chair Test (RCT) varies between 61 and 80% and specificity between 21 and 80%, whereas this was, respectively, 71-100% and 30-100% for collic Vestibular Evoked Myogenic Potentials (cVEMP). Compared with RCT, the sensitivity was 88-100% and the specificity was 69-100% for the Dynamic Visual Acuity test, respectively, 67-100% and 71-100% for the (video) Head Impulse Test and 83% and 86% for the ocular VEMP.
CONCLUSIONS: Currently, due to methodological shortcoming, evidence on sensitivity and specificity of vestibular tests is unknown to moderate. Future research should focus on adequate sample sizes (subgroups >30).

PMID: 28264605 [PubMed - as supplied by publisher]

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