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Puropse: The aim of this study was to evaluate the sensory processing skills, quality of life and balance performance in adult cochlear implant users., Methods: A sample of 40 individuals was studied in two groups; 20 normal hearing individuals (37.84 ± 15.39 years old) and 20 cochlear implant users (35.58 ± 11.22 year old). Balance performance was assessed by Computerized Dynamic Posturography. The Adolescent/Adult Sensory Profile completed by the individual was used to assess sensory processing skills. Finally, quality of life was assessed with the Short Form-36., Results: Among the different sensory processing parameters in the adolescent/adult sensory profile, a significant difference was found between the two groups in the parameters of low registration, sensory sensitivity and sensory avoidance (p < .05). Visual, vestibular and composite scores were found to be lower in cochlear implant users by Computerised Dynamic Posturography assessment (p < .05). When assessing quality of life, emotional well-being and social functioning parameters were found to be lower in cochlear implant users (p < .05)., Conclusion: Factors such as the inability to reach sufficient auditory stimuli due to hearing loss and the occurrence of vestibular problems after cochlear implant surgery limit the quantity and quality of sensory stimuli from the environment. Individuals with cochlear implants may prefer to live isolated from society because they cannot adequately process incoming sensory stimuli due to hearing/balance problems, and this may negatively affect the quality of life of individuals. Our findings revealed the necessity of multisensory assessment and therapy protocols when rehabilitating individuals with cochlear implants., (© 2024. The Author(s).)

Objectives: This study aimed to determine which machine learning model is most suitable for predicting noise-induced hearing loss and the effect of tinnitus on the models' accuracy., Methods: Two hundred workers employed in a metal industry were selected for this study and tested using pure tone audiometry. Their occupational exposure histories were collected, analysed and used to create a dataset. Eighty per cent of the data collected was used to train six machine learning models and the remaining 20 per cent was used to test the models., Results: Eight workers (40.5 per cent) had bilaterally normal hearing and 119 (59.5 per cent) had hearing loss. Tinnitus was the second most important indicator after age for noise-induced hearing loss. The support vector machine was the best-performing algorithm, with 90 per cent accuracy, 91 per cent F1 score, 95 per cent precision and 88 per cent recall., Conclusion: The use of tinnitus as a risk factor in the support vector machine model may increase the success of occupational health and safety programmes.

Objectives: A comprehensive evaluation is necessary for voice-related complaints, as it can benefit both the patient and physician in busy clinical settings. This study aimed to examine the Turkish adaptation of the Glottal Function Index (GFI-T), which can be quickly administered., Study Designs: Phase 1 methodological, phase 2 prospective cohort., Methods: This study was conducted in two phases. Firstly, the GFI was translated into Turkish, and its content validity was examined. The GFI-T was administered to 40 participants with voice disorders (M=41.3, SD=10) in the study group and 40 participants without voice disorders (M=37.5, SD=11.3) in the control group. Then GFI-T was readministered 2weeks later. The collected data were used for structural and convergent validity [correlation with Turkish version of the Voice Handicap Index-10 (VHI-10)], internal consistency, and test-retest reliability analyses. Secondly, 24 participants with vocal nodules were recruited separately from the first phase and were randomly divided into three groups. The first group underwent lax-vox therapy+vocal hygiene, the second group underwent resonance therapy+vocal hygiene, and the third group was provided only with vocal hygiene recommendations. The discriminative ability and construct validity of the GFI-T were examined by comparing pre- and post-assessments., Results: The results indicated that the content validity indexes were 0.98 in the experts and 0.99 in the participants. Confirmatory factor analysis of the scale confirmed that a single-factor structure and goodness-of-fit indices were suitable. The GFI-T correlated 0.92 with the Turkish version of the VHI-10. The internal consistency was 0.96, and the test-retest value was 0.99. Significant differences (P < 0.001) and correlations with the Turkish version of VHI-10 were found in intragroup comparisons., Conclusions: The GFI-T is a reliable and valid tool for the self-assessment of voice disorders. The adaptation of this study to the pediatric population is recommended., Competing Interests: Declaration of Competing Interest The authors have no conflicts of interest to declare., (Copyright © 2024 The Voice Foundation. Published by Elsevier Inc. All rights reserved.)

Introduction: Idioms are commonly used in everyday language to convey emotions figuratively. The ability to comprehend and use idioms that incorporate emotional elements is crucial for effective communication in daily life, particularly among people with aphasia (PwA). Despite the interest in understanding the process of emotion idiom comprehension in PwA, limited information is available in the literature. Therefore, this study aimed to investigate the process of emotion idiom comprehension in people with Wernicke's aphasia (PwWA) and compare it with that of neurotypical individuals., Methods: Sixty idioms were selected based on their syntactic and semantic features, and participants evaluated their imageability. Sixteen idioms were chosen for the study, and two types of tasks were prepared: written idiom-picture matching and written idiom-written text matching. These tasks were administered to two groups: 11 PwWA and 11 neurotypical individuals. The results were analysed in terms of task performance, response type, syntactic and semantic features, and emotional content., Results: The emotion idiom comprehension scores of the PwWA group were significantly lower than those of the neurotypical participants. PwWA had greater difficulty with the written idiom-picture matching task and tended to rely on the literal meanings of the idioms. There were differences in the semantic features between the two groups. Among the emotion idioms, PwWA showed significant differences in the types of emotions they were able to comprehend., Conclusions: The findings of this study suggest that regardless of the syntactic content of idioms, PwWA's ability to comprehend emotion idioms is impaired, and they tend to interpret them more literally. This study provides a useful method for assessing emotional idiom comprehension in PwA., (© 2023 S. Karger AG, Basel.)

Background: In literature, the cognitive performance results of normal hearing individuals with tinnitus are inconsistent. It also differs in the control of other factors that may affect cognition., Purpose: This study aimed to determine the differences in attention and memory performance between normal-hearing individuals with chronic subjective tinnitus and age-sex-education-matched healthy controls., Study Sample: Normal-hearing individuals with subjective chronic tinnitus between 18-55 years of age, who have normal cognitive abilities [tinnitus group, n=30] and age-sex matched normal hearing individuals without tinnitus who have normal cognitive abilities [control group, n=30] were included in this study., Data Collection: The Montreal Cognitive Assessment Test (MoCA-TR) measured participants' general cognitive screening, and depressive symptoms were measured by Beck Depression Inventory (BDI). Tinnitus Handicap Inventory (THI) was used to determine the tinnitus handicap levels. Attention performance was evaluated with Stroop Test-TBAG Form, and short-term and working memory performances were evaluated with the Wechsler Adult Intelligence Scale-Revised (WAIS-R)-Digit Span Test., Results: The tinnitus and control groups' depressive symptom scores were similar concerning the BDI (p=0.90). There was no statistically significant difference between both groups according to the completion time of the five sections of the Stroop Test, the number of errors and corrections of the Stroop 5 test, and the (WAIS-R)-Digit Span Test scores (p>0.05)., Conclusions: In our study, the Stroop Test and Digit Span Test performances of individuals with tinnitus and normal hearing were similar to the control group. Despite previous studies claiming an effect of tinnitus on cognition, our contrary findings are discussed in the light of other demographic, audiological, and psychological measurement variables, especially hearing loss., Competing Interests: The authors declare that they have no conflict of interest., (American Academy of Audiology. This article is published by Thieme.)

Background: The increase in screen time and the decrease in physical- activity cause balance problems as well as many systemic handicaps., Aims/objectives: This study aimed to determine the effect of screen time on balance and the effect of headphone usage time on hearing., Method: Thirty-four individuals aged 6-16 years who applied to our clinic with complaints of dizziness and/or balance disorder were included in the study. Participants were divided into 2 groups according to their screen time: Group 1 (4-8 h/day) and Group2(>8 h/day). The other two groups are grouped according to headphone usage time as Group A (2-4 h/day) and Group B (>4hours/day). Pure-tone audiometry, extended high frequency-audiometry, Videonystagmography (VNG) and Computerized Dynamic Posturography (CDP) tests and Pediatric Berg Balance Scale and Visual Analogue Scale were applied to all individuals. CDP scores and pure tone hearing thresholds between groups were compared., Results: A significant difference was observed between Group 1 and Group 2 according to the CDP test (visual, vestibular and composite scores), and according to the VAS-dizziness and PBS ( p  ≤ .05). Pure tone average and pure tone thresholds at high frequencies were compared between Group A and Group B according to headphone usage time. Pure tone thresholds of Group B were worse at high frequencies than Group A ( p  ≤ .05)., Conclusions: It has been observed that prolonged screen time may cause balance impairment in children and prolonged use of headphones may affect high-frequency hearing thresholds.

Objective: This study aims to investigate the effect of TRV chair on residual dizziness (RD) after idiopathic posterior semicircular canal benign paroxysmal positional vertigo (BPPV) successfully treated with canalith repositioning maneuver (CRM)., Study Design: Prospective case-control study., Setting: Hospital., Patients: Thirty-three patients with posterior canal BPPV were included in the study. These patients were divided into two identical groups. CRM was applied to the first group with a TRV chair (TRV group) and manually to the second group (manual group)., Interventions: Dizziness Handicap Inventory (DHI), Beck Anxiety Inventory (BAI), and video head impulse test were applied to the patients. Patients in both groups were asked to report the RD developed after successful CRM daily by visual analog scale (VAS)., Results: The TRV group's first-day RD rate was 94.1% with VAS, and the RD duration was 2.47 ± 1.77 (0-7) days. The manual group's first-day RD rate was 100%, and the RD duration was 3.38 ± 1.70 (1-7) days. There was no difference between the groups in terms of RD duration ( p > 0.05). Mean RD severity and severity in the first 3 days were lower in the TRV group compared with the manual group ( p < 0.05). There was no difference between the groups on other days ( p > 0.05). In addition, there was a positive correlation between RD and DHI and BPPV duration ( p < 0.05)., Conclusion: RD is a multifactorial symptom associated with how the repositioning maneuver is performed, BPPV duration, and DHI. Performing the repositioning maneuver with the TRV chair can reduce the severity of RD., Competing Interests: Disclosure: The authors declare no conflicts of interest., (Copyright © 2023, Otology & Neurotology, Inc.)

Objective: Subjective tinnitus is defined as the perception of irregular sound at different frequencies. Although the underlying cause of tinnitus is unclear, increased body weight is known to increase tinnitus symptoms. The present study aimed to determine the effects of dietary and physical activity interventions on tinnitus symptoms., Methods: Sixty-three obese subjects with tinnitus aged 20 to 65 years were divided into diet + physical activity (P.A.) (n = 15), diet (n = 16), P.A. (n = 15), and control (n = 17) groups. Dietary records, anthropometric measurements, Tinnitus Handicap Inventory (THI), Beck Depression Inventory (BDI), Short-Form Health Survey (SF-36), and Visual Analogue Scale (VAS) of all individuals were recorded and compared at the baseline and at study completion., Results: Body weight decreased in the diet + P.A. (-5.9 (3.5) kg), diet (-3.4 (0.9) kg), and P.A. (-2.0 (2.1) kg) groups compared to the baseline (p < 0.05). There was a more significant decrease in tinnitus frequency, tinnitus severity, and VAS scores in individuals with a weight loss of ≥ 5.0% than in those with < 5.0% (p < 0.05). A decrease of 1 kg/m 2 in BMI decreased the BDI score by 0.485 units and the THI score by 0.523 units. Step counts were increased in the diet + P.A. (3562.3±739.9) and P.A. (3797.1 ± 1801.1) groups compared to baseline (p < 0.01). Each increase of 1000 steps increased the SF-36 score by 1.592 units and decreased the THI score by 0.750 units (p < 0.05)., Conclusion: Dietary and physical activity interventions, alone or in combination, alleviated tinnitus symptoms and increased quality of life in individuals with tinnitus. Due to its contribution to obesity prevention and positive effects on tinnitus, organizing dietary and physical activity programs for obese individuals with tinnitus would improve these individuals' quality of life., Competing Interests: Declaration of Competing Interest The authors declare that they have no conflicts of interest., (Copyright © 2022. Published by Elsevier B.V.)

Introduction: Benign paroxysmal positional vertigo (BPPV) is one of the most common causes of peripheral vertigo and can manifest in different forms. Multicanal BPPV is rare and difficult to treat. TRV Chair is a method that offers diagnosis and treatment at the same time. The aim was to analyze the outcomes of treatment of multicanal BPPV by means of TRV Chair and compare those results with manual maneuvers., Methods: Forty-nine subjects aged 26-73 and diagnosed with multicanal BPPV were included. Appropriate maneuvers were performed on affected canals either by TRV Chair or manually. The number of maneuvers required by TRV Chair and manual maneuver were analyzed and compared., Results: The mean number of maneuvers performed until the treatment was completed in manual treatment group was 2.57 ± 1.03, and in TRV group, it was 2.25 ± 1.16. No significant difference was observed between the number of maneuvers performed in either group until the end of the treatment (p > 0.05)., Discussion/conclusions: Neither TRV Chair nor manual maneuvers were superior to the other in the treatment of multicanal BPPV cases., (© 2022 S. Karger AG, Basel.)

Objectives: The aim of the present study was to evaluate hearing loss in patients diagnosed with systemic sclerosis (SSc) and to investigate the relation between hearing loss, subtypes of the disease, its duration and clinical findings, and antibody positivity., Methods: The study included 47 patients with SSc and 44 healthy controls. Audiometric, tympanometric, and otoacoustic emission measurements were applied to both groups., Results: The evaluation of the participants medical history showed that among the patients with SSc, 19.1% experienced ear fullness, 27.7% experienced vertigo, and 36.2% experienced tinnitus. Hearing loss was detected in 23.4% of the patients with SSc. The corresponding result was 4.3% in the control group with a statistically significant difference (p = 0.001). Transient-evoked otoacoustic emission amplitude values were significantly lower in the patients' both ears with SSc than the control group (p < 0.005). Duration of disease was significantly longer, and diffusing capacity of the lungs for carbon monoxide values were significantly higher in the patients with SSc and sensorineural hearing loss., Conclusions: The present study found that the incidence of hearing loss was significantly higher in the study group than in the healthy control group. In addition to other organ involvements, cochlear involvement occurs in these patients, and further studies are required., (© Japan College of Rheumatology 2021. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

Objective: It is aimed to determine the therapeutic role of transcutaneous electrical nerve stimulation (TENS) on chronic subjective tinnitus with a randomized and comparative analysis., Method: 46 individuals with normal hearing, chronic subjective tinnitus, aged 20-65; randomly divided into the study (TENS therapy) and tje control groups. The control group (n = 23) was informed only about tinnitus, while the study group (n = 23) received TENS therapy (20 sessions in 4 weeks). Before TENS therapy, tinnitus-related evaluations of all participants [tinnitus frequency, loudness, minimum masking level (MMS), residual inhibition (RI)] were made and Tinnitus Handicap Inventory (THI), Visual Analogue Scale (VAS), Short Form 36 (SF-36), and The Quality of Life Scale were applied to the participants. These evaluations and questionnaires were repeated after 4 weeks of the therapy., Results: There was a significant decrease in the tinnitus severity after TENS therapy in the study group (p = 0.003). Moreover, it was found that VAS (loudness and annoyance), THI (functional, emotional and total score), SF-36 (physical function, physical role, pain, general health, vitality, emotional role and social function) values improved compared to before TENS therapy and the difference was significant (p < 0.05). There was no significant difference between the first and last evaluations of the control group (p > 0.05)., Conclusion: TENS is an effective, practical and reliable therapy method in reducing severity, loudness, and annoyance of tinnitus, and increasing the quality of life in individuals with chronic subjective tinnitus., Competing Interests: Declaration of competing interest None., (Copyright © 2022. Published by Elsevier Inc.)

Purpose: In this study, the development of a quantitative measurement method to predict long-term auditory adaptation through the stimuli that have been modulated according to different short-term modulation types was aimed to form a psychoacoustic test battery. It might be used in the evaluation process of individuals with hidden hearing loss., Methods: The individuals participating in our study were separated into two groups: high-risk group (n = 39) and low-risk group (n = 30) according to the noise-exposure score. To all participants, auditory brainstem response (ABR), dichotically digit test, Turkish matrix sentence test, otoacoustic emissions test, amplitude modulation detection test, and loudness adaptation test were applied. Stimuli, used in loudness adaptation tests, were provided in three different experiment pairs (experiment 1-2, experiment 3-4, and experiment 5-6)., Results: The amplitude of wave I of ABR increased as the intensity level increased in the low-risk group, whereas the amplitude reduced as the intensity level increased in the high-risk group (P < 0.05). When different carrier frequency stimuli were used in amplitude modulation detection test, we found that loudness adaptation was highest at 1 kHz carrier frequency with background noise (P < 0.05)., Conclusion: We observed that individuals assumed having hidden hearing loss had high adaptation scores. It was thought that this result might be related to auditory nerve fibers with low spontaneous rate and thus distortion in temporal coding skills might lead to abnormal loudness adaptation, especially with contralateral noise., Competing Interests: None

Background & Aims: Subjective tinnitus is the most common and manifest auditory symptom of an existing pathology in the auditory system. Although the effect of obesity on tinnitus is still uncertain, it is known that increased fat tissue increases the severity and symptoms of tinnitus. In this study, it was aimed to evaluate the effect of weight loss through diet and physical activity on tinnitus., Methods: Forty-six obese subjects diagnosed with tinnitus were randomized into the diet + physical activity (PA) (n = 13), diet (n = 16) and the control groups (n = 17). The anthropometric measurements, tinnitus severity scores, tinnitus handicap inventory (THI) scores and short form quality of life (SF-36) scores of the individuals were recorded and compared at the beginning and at the end of the study., Results: In the diet + PA and diet groups; body weight (diet + PA:-6.5 ± 2.6; diet: -4.1 ± 1) tinnitus severity (diet + PA:-11.0 ± 7.0; diet: -9.0 ± 8.7) and THI scores (diet + FA:-15.0 ± 9.5; diet: -14.0 ± 10.0) significantly decreased compared to the control group (p < 0.01). This decline was more in those with weight loss of ≥5.0% than those with <5.0%. SF-36 score was significantly increased in the diet + PA and diet groups (respectively 10.0 ± 5.5 and 6.0 ± 2.7) compared to the control group (p < 0.05)., Conclusions: Diet and physical activity intervention ameliorated the tinnitus severity and quality of life in obese patients with tinnitus. However to generalize this findings further studies are needed. REGISTERED UNDER CLINICALTRIALS., Gov Identifier No: NCT00123456., (Copyright © 2021 European Society for Clinical Nutrition and Metabolism. Published by Elsevier Ltd. All rights reserved.)

Auditory reception relies on the perception of mechanical stimuli by stereocilia and its conversion to electrochemical signal. Mechanosensory stereocilia are abundant in actin, which provides them with structural conformity necessary for perception of auditory stimuli. Out of three major classes of actin-bundling proteins, plastin 1 encoded by PLS1, is highly expressed in stereocilia and is necessary for their regular maintenance. A missense PLS1 variant associated with autosomal dominant hearing loss (HL) in a small family has recently been reported. Here, we present another PLS1 missense variant, c.805G > A (p.E269K), in a Turkish family with autosomal dominant non-syndromic HL confirming the causative role of PLS1 mutations in HL. We propose that HL due to the p.E269K variant is from the loss of a stable PLS1-ACTB interaction., (© 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

While the importance of tight junctions in hearing is well established, the role of Claudin- 9 (CLDN9), a tight junction protein, in human hearing and deafness has not been explored. Through whole-genome sequencing, we identified a one base pair deletion (c.86delT) in CLDN9 in a consanguineous family from Turkey with autosomal recessive nonsyndromic hearing loss. Three affected members of the family had sensorineural hearing loss (SNHL) ranging from moderate to profound in severity. The variant is predicted to cause a frameshift and produce a truncated protein (p.Leu29ArgfsTer4) in this single-exon gene. It is absent in public databases as well as in over 1000 Turkish individuals, and co-segregates with SNHL in the family. Our in vitro studies demonstrate that the mutant protein does not localize to cell membrane as demonstrated for the wild-type protein. Mice-lacking Cldn9 have been shown to develop SNHL. We conclude that CLDN9 is essential for proper audition in humans and its disruption leads to SNHL in humans.

We have identified a GRAP variant (c.311A>T; p.Gln104Leu) cosegregating with autosomal recessive nonsyndromic deafness in two unrelated families. GRAP encodes a member of the highly conserved growth factor receptor-bound protein 2 (GRB2)/Sem-5/drk family of proteins, which are involved in Ras signaling; however, the function of the growth factor receptor-bound protein 2 (GRB2)-related adaptor protein (GRAP) in the auditory system is not known. Here, we show that, in mouse, Grap is expressed in the inner ear and the protein localizes to the neuronal fibers innervating cochlear and utricular auditory hair cells. Downstream of receptor kinase ( drk ), the Drosophila homolog of human GRAP , is expressed in Johnston's organ (JO), the fly hearing organ, and the loss of drk in JO causes scolopidium abnormalities. drk mutant flies present deficits in negative geotaxis behavior, which can be suppressed by human wild-type but not mutant GRAP. Furthermore, drk specifically colocalizes with synapsin at synapses, suggesting a potential role of such adaptor proteins in regulating actin cytoskeleton dynamics in the nervous system. Our findings establish a causative link between GRAP mutation and nonsyndromic deafness and suggest a function of GRAP/drk in hearing., Competing Interests: The authors declare no conflict of interest.

Objectives: The aim of this study was to evaluate audiologic properties of patients with Noonan syndrome and compare these findings with those of unaffected peers., Methods: The study included 17 children with Noonan syndrome and 20 typically developing children without Noonan syndrome. Pure tone and speech audiometry, immitancemetric measurement, otoacoustic emissions measurement and auditory brainstem response tests were applied to all (n = 37) children., Results: Hearing thresholds of children with Noonan syndrome were higher (poorer) than those observed unaffected peers, while the hearing sensitivity of the both groups were normal limits (p = 0.013 for right, p = 0.031 for left ear). Transient evoked otoacoustic emissions amplitudes of the children with Noonan syndrome were lower than the children without Noonan syndrome (p = 0.005 for right, p = 0.002 for left ear). Middle ear pressures and auditory brainstem response values were within normal limits and there was no difference between the two groups (p > 0.05)., Conclusion: General benefit of the present study is to characterize the audiologic findings of children with Noonan syndrome, which is beneficial in clinics evaluating children with Noonan syndrome., (Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.)

Hair cells of the inner ear, the mechanosensory receptors, convert sound waves into neural signals that are passed to the brain via the auditory nerve. Little is known about the molecular mechanisms that govern the development of hair cell-neuronal connections. We ascertained a family with autosomal recessive deafness associated with a common cavity inner ear malformation and auditory neuropathy. Via whole-exome sequencing, we identified a variant (c.2207G>C, p.R736T) in ROR1 (receptor tyrosine kinase-like orphan receptor 1), cosegregating with deafness in the family and absent in ethnicity-matched controls. ROR1 is a tyrosine kinase-like receptor localized at the plasma membrane. At the cellular level, the mutation prevents the protein from reaching the cellular membrane. In the presence of WNT5A, a known ROR1 ligand, the mutated ROR1 fails to activate NF-κB. Ror1 is expressed in the inner ear during development at embryonic and postnatal stages. We demonstrate that Ror1 mutant mice are severely deaf, with preserved otoacoustic emissions. Anatomically, mutant mice display malformed cochleae. Axons of spiral ganglion neurons show fasciculation defects. Type I neurons show impaired synapses with inner hair cells, and type II neurons display aberrant projections through the cochlear sensory epithelium. We conclude that Ror1 is crucial for spiral ganglion neurons to innervate auditory hair cells. Impairment of ROR1 function largely affects development of the inner ear and hearing in humans and mice.

Purpose: Autosomal recessive nonsyndromic deafness (ARNSD) is characterized by a high degree of genetic heterogeneity, with reported mutations in 58 different genes. This study was designed to detect deafness-causing variants in a multiethnic cohort with ARNSD by using whole-exome sequencing (WES)., Methods: After excluding mutations in the most common gene, GJB2, we performed WES in 160 multiplex families with ARNSD from Turkey, Iran, Mexico, Ecuador, and Puerto Rico to screen for mutations in all known ARNSD genes., Results: We detected ARNSD-causing variants in 90 (56%) families, 54% of which had not been previously reported. Identified mutations were located in 31 known ARNSD genes. The most common genes with mutations were MYO15A (13%), MYO7A (11%), SLC26A4 (10%), TMPRSS3 (9%), TMC1 (8%), ILDR1 (6%), and CDH23 (4%). Nine mutations were detected in multiple families with shared haplotypes, suggesting founder effects., Conclusion: We report on a large multiethnic cohort with ARNSD in which comprehensive analysis of all known ARNSD genes identifies causative DNA variants in 56% of the families. In the remaining families, WES allows us to search for causative variants in novel genes, thus improving our ability to explain the underlying etiology in more families.Genet Med 18 4, 364-371.

In a large consanguineous Turkish kindred with recessive nonsyndromic, prelingual, profound hearing loss, we identified in the gene FAM65B (MIM611410) a splice site mutation (c.102-1G>A) that perfectly cosegregates with the phenotype in the family. The mutation leads to exon skipping and deletion of 52-amino acid residues of a PX membrane localization domain. FAM65B is known to be involved in myotube formation and in regulation of cell adhesion, polarization, and migration. We show that wild-type Fam65b is expressed during embryonic and postnatal development stages in murine cochlea, and that the protein localizes to the plasma membranes of the stereocilia of inner and outer hair cells of the inner ear. The wild-type protein targets the plasma membrane, whereas the mutant protein accumulates in cytoplasmic inclusion bodies and does not reach the membrane. In zebrafish, knockdown of fam65b leads to significant reduction of numbers of saccular hair cells and neuromasts and to hearing loss. We conclude that FAM65B is a plasma membrane-associated protein of hair cell stereocilia that is essential for hearing.

Objectives: The aim of this study is to evaluate the auditory phenotype in subjects with OTOF gene mutations to describe genotype-phenotype correlations., Methods: Twenty-two affected members from three families with homozygous OTOF mutations were included. Nine subjects were evaluated audiologically with otoscopic examination, pure-tone audiometry, tympanometry with acoustic reflex testing, auditory brain stem responses, and otoacoustic emission tests., Results: Homozygous c.4718T>C (p.Ile1573Thr) mutation was associated with the auditory neuropathy/auditory dys-synchrony (AN/AD) phenotype and with progressive sensorineural hearing loss in four siblings in one family, while homozygous c.4467dupC (p.I1490HfsX19) was associated with severe to profound sensorineural hearing loss without AN/AD in four relatives in another family. Homozygous c.1958delC (p.Pro653LeufsX13) mutation was associated with moderate sensorineural hearing loss without AN/AD in one affected person in an additional family., Conclusions: The audiological phenotype associated with different OTOF mutations appears to be consistently different suggesting the presence of a genotype-phenotype correlation., (Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.)

Objective: The aim of our study is to investigate the relationship between the complaint of speech understanding in noisy environments and the findings of contralateral suppression of transient evoked otoacoustic emissions and speech recognition in noise test methods in individuals with normal hearing., Methods: Sixty-nine subjects between 18 and 53 years of age with normal hearing participated in the present study. The subjects were assigned to one of two groups, reported difficulty understanding speech in noise or no reported difficulty understanding speech in noise. After hearing and immitancemetric evaluation, contralateral suppression of transient evoked otoacoustic emissions and speech recognition in noise tests were administered to both groups. Suppression was calculated in half-octave frequency bands centered at 1.0, 1.5, 2.0, 3.0 and 4.0kHz., Results: We found out that the speech recognition in noise scores and contralateral suppression values were lower in subjects with the complaint of speech understanding in noise than those who do not have such complaints., Conclusions: We concluded that the complaint of speech understanding in noise may be related to the medial efferent system dysfunction, so central auditory nervous system., (Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.)

Myopia is by far the most common human eye disorder that is known to have a clear, albeit poorly defined, heritable component. In this study, we describe an autosomal-recessive syndrome characterized by high myopia and sensorineural deafness. Our molecular investigation in 3 families led to the identification of 3 homozygous nonsense mutations (p.R181X, p.S297X, and p.Q414X) in SLIT and NTRK-like family, member 6 (SLITRK6), a leucine-rich repeat domain transmembrane protein. All 3 mutant SLITRK6 proteins displayed defective cell surface localization. High-resolution MRI of WT and Slitrk6-deficient mouse eyes revealed axial length increase in the mutant (the endophenotype of myopia). Additionally, mutant mice exhibited auditory function deficits that mirrored the human phenotype. Histological investigation of WT and Slitrk6-deficient mouse retinas in postnatal development indicated a delay in synaptogenesis in Slitrk6-deficient animals. Taken together, our results showed that SLITRK6 plays a crucial role in the development of normal hearing as well as vision in humans and in mice and that its disruption leads to a syndrome characterized by severe myopia and deafness.

Hereditary hearing loss is characterized by a high degree of genetic heterogeneity. Here we present OTOGL mutations, a homozygous one base pair deletion (c.1430 delT) causing a frameshift (p.Val477Glufs(∗)25) in a large consanguineous family and two compound heterozygous mutations, c.547C>T (p.Arg183(∗)) and c.5238+5G>A, in a nonconsanguineous family with moderate nonsyndromic sensorineural hearing loss. OTOGL maps to the DFNB84 locus at 12q21.31 and encodes otogelin-like, which has structural similarities to the epithelial-secreted mucin protein family. We demonstrate that Otogl is expressed in the inner ear of vertebrates with a transcription level that is high in embryonic, lower in neonatal, and much lower in adult stages. Otogelin-like is localized to the acellular membranes of the cochlea and the vestibular system and to a variety of inner ear cells located underneath these membranes. Knocking down of otogl with morpholinos in zebrafish leads to sensorineural hearing loss and anatomical changes in the inner ear, supporting that otogelin-like is essential for normal inner ear function. We propose that OTOGL mutations affect the production and/or function of acellular structures of the inner ear, which ultimately leads to sensorineural hearing loss., (Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)