Hearing Loss In Population Research Articles

Is video interpretation compromising care for the hearing loss population?

ObjectiveThe convergence of hearing impairment and language barriers presents unique communication challenges to patients and practicing otolaryngologists. Limited data exist comparing interpretation methods for patients with hearing loss. Patients with hearing loss rely on visual cues, lip-reading, written communication, and/or comprehensive interaction techniques, which may encounter limitations by remote services. Herein, we examine patient and otolaryngology provider satisfaction, cost, and encounter efficiency between virtual and in-person interpretation among adults who speak Mandarin and Cantonese. MethodsThis study is a prospective, randomized controlled trial in patients with moderate-to-severe bilateral hearing loss, Limited English Proficiency, and a primary language of Mandarin or Cantonese. Fifty-two patients were randomized to either in-person or virtual interpretation conditions. Patient satisfaction was measured using an 8-item Likert scale assessing communication effectiveness, encounter efficiency, and overall quality. Otolaryngology provider satisfaction was measured using a 1-item Likert scale. Encounter time, cost, and communication difficulty were measured and compared using independent sample t-tests. ResultsPatient and otolaryngology provider satisfaction scores were significantly higher with in-person interpretation (p < 0.05 for 7 of 8 patient items; physician mean score 4.9, p < 0.001, r = 0.54) compared to virtual interpretation (physician mean 3.8) conditions, while overall quality of the encounter remained the same. There was no significant difference in the length of encounters or in the number of times patients requested interpreter repetition between groups. A difference in average cost existed for in-person interpretation ($14.50) compared to video interpretation ($25) services for an average length appointment. ConclusionPatients and otolaryngologists reported higher overall satisfaction with in-person compared to virtual interpretation services. In-person interpretation yielded better comprehension in the hearing loss population among Mandarin and Cantonese-speaking patients and demonstrated a cost advantage over virtual interpretation.

Internal ear morphometry in pediatrics: a comparison between neurosensorial hearing loss population and control group

Internal ear morphometry in pediatrics: a comparison between neurosensorial hearing loss population and control group

Increased risk of hearing loss associated with MT-RNR1 gene mutations: a real-world investigation among Han Taiwanese Population

BackgroundPrevious studies have implicated inherited mutations in mitochondrial DNA (mtDNA) in sensorineural hearing loss (SNHL). However, the definitive association between mitochondrial 12S rRNA (MT-RNR1) variants and hearing loss in the population has not been well established, particularly in Asia. The objective of this retrospective cohort study was to assess the association between MT-RNR1 variants and the risk of SNHL in patients in Taiwan.MethodsThe cohort included 306,068 participants from Taiwan between January 2003 and December 2020. Participants were classified based on genetic variants, particularly mitochondrial mutations (rs267606618, rs267606619, rs267606617). MT-RNR1 variant cases were matched 1:10 with non-mutant patients by age, gender, and visit year, excluding those with pre-existing hearing loss. The primary endpoint was SNHL, identified using specific ICD-TM codes with a 90% positive predictive value. Medication exposure history was determined via self-report or electronic medical records in the hospital. Cox proportional hazard regression models were used to assess the association between MT-RNR1 variants and hearing loss, adjusting for various covariates. Kaplan-Meier survival curves and log-rank tests compared hearing loss incidence between groups.ResultsThe mean age of the mtDNA variants group is 32.4 years, with a standard deviation of 19.2 years. The incidence density of hearing loss for the mutation group was 36.42 per 10,000 person-years (95% Confidence Interval [CI], 27.21–47.73), which was higher than the 23.77per 10,000 person-years (95% CI, 21.32–26.42) in the wild-type group (p = 0.0036). Additionally, diabetes mellitus was associated with an increased risk of developing SNHL in individuals with MT-RNR1 variants (adjusted hazard ratio = 1.76 [95% CI, 1.00-3.09], p < 0.05).ConclusionThis study highlights the increased risk of hearing loss in patients carrying MT-RNR1 variants, particularly those with diabetes mellitus. Future research that integrates genetic and clinical data is crucial for developing more precise interventions to monitor and treat hearing loss in this vulnerable population.

Visual speech cues relieve listening effort selectively for listeners with hearing loss

Elevated listening effort is one of the most commonly reported and widely impactful problems among individuals with hearing loss. The ability to see a talker’s face may help mitigate listening effort, but research on this topic has generally excluded individuals with hearing loss. In this study, we used pupillometry as a time-sensitive index of listening effort for audio-visual speech while manipulating the availability of visual cues by selectively blurring the talker’s mouth. Blurring removed place-of-articulation information while allowing fair comparison of pupil size across conditions. Effortful listening was elicited using a sentence repetition task in which participants needed to use later context to fill in a missing word from earlier in the sentence. For listeners with typical hearing, visual cues had no measurable effect on listening effort. In contrast, listeners with cochlear implants (CIs) had two distinct benefits from visual cues: first, pupil dilations were smaller, suggesting release from effort. Second, the downstream intelligibility errors caused by the word-repair process were alleviated. These results caution against generalizing findings obtained with typical-hearing participants to a hearing loss population, support deeper analysis of perception error patterns, and demonstrate the importance of multisensory speech cues to relieve listening effort.

Exploring the hidden risks: How U.S. infrastructure contributes to hearing loss

Hearing loss is a critical health issue in the US, as approximately 15% of American adults live with hearing loss. Existing factors affecting hearing loss include congenital factors, chronic middle ear infections, noise exposure, age, gender, lifestyle, and ototoxic drugs. However, few studies investigated how infrastructure would affect hearing loss. Forbes Health recently reported cities with the greatest hearing loss risks ranked by the densities of specific infrastructure establishments, such as restaurants and cafeterias, bars and nightclubs, construction, and casinos, where sound can reach damaging levels (i.e., producing noise over 85 decibels on average). To verify this idea, we investigated the correlation between the hearing loss rate and the density of risky establishments at the county level, using the U.S. Census Bureau hearing loss population data and point-of-interest data provided by Safegraph and Openstreet. However, the results show that 81.25% of states (39/48) have statistically significant negative correlations between the densities of risky establishments and hearing loss rates at county levels. In contrast, the other states show no significant correlations. The results imply a different mechanism from Forbes’ report of infrastructure damaging hearing and suggest further exploration of how infrastructure contributes to hearing loss in the US.

Status of People with Hearing Loss in Korea: Findings of from the 2000 to 2020 Nationwide Survey of People with Disabilities

The purpose of this study is to understand the status of people with hearing loss in Korea based on findings from a nationwide survey of people with disabilities. The study investigated the statistics of people with hearing loss among the nationwide survey of people with disabilities from 2000 to 2020. Hearing loss population has been increased for the past 20 years and more than 70% of registered people with hearing loss in this study were over the age of 60. Cost issue was the main reason for not purchasing assistive devices (54%). Forty-seven point seven percent of respondents reported that communication difficulty was the reason for discomfort in outdoor activities. People with hearing loss reported that the highest the highest rate of discrimination experience (40.4%) from their peers during their school lives. They also felt that they did not receive much national support after registering their disability. 37% of the respondents used the national medical insurance in Korea for their assistive devices. National support for hearing loss should be considered from multiple aspects.

Paediatric audiology measures for Spanish-speaking patients: current practice & state of knowledge

Objective The objective of this study was to obtain an understanding of audiologists’ knowledge of Spanish speech perception materials for the paediatric hearing loss population. Design An electronic survey, the Knowledge of Spanish Audiology & Speech Tools (KSAST) was distributed via Qualtrics to audiologists who worked with Spanish-speaking children. Study Sample One hundred and fifty-three audiologists practicing in the United States completed the electronic survey over a period of six months. Results Audiologists lacked knowledge of current Spanish measures and there was no consensus on what providers were administering for the paediatric population. The largest gaps in knowledge existed for the infancy through early childhood age groups. Notably, even when Spanish measures exist, audiologists reported feeling uncomfortable using them in clinic due to a variety of reasons (e.g., did not know how to access measure, did not know how to administer). Conclusions This study highlights the lack of consensus in managing Spanish-speaking patients with hearing loss. There is a lack of validated age-appropriate measures to accurately assess speech perception for Spanish-speaking children. Future research should focus on improving training on management of Spanish-speaking patients, as well as development of speech measures and best practice guidelines for this population.

Acquired Combined Vision and Hearing Loss: Awareness and Perceptions of Australian Aged Care Workers

Introduction: Understanding the attitudes, competency, and awareness of those supporting older people who have an acquired combined vision and hearing loss is an important endeavor for this population. It can help guide aged care policy makers, leaders, and managers in the allocation of resources and training. This Australian study investigated the awareness and perceptions of aged care workers on supporting older adults with acquired combined vision and hearing loss. Methods: Twenty-four participants who were employed in aged care services participated in semistructured interviews that were thematically analyzed. The interviews explored the participants’ awareness of this disability, identification within their service, adaptation strategies, and their access to relevant information. Results: Several themes emerged, including lack of identification and recording of acquired combined vision and hearing loss in this population, lack of awareness of this disability, and lack of available information or training to support aged care workers within their care setting. Discussion: Aged care workers have little understanding of the prevalence of acquired combined vision and hearing loss in an older population. Care plans are key documents for individuals, which outline their needs and any sensory losses; however, this information is not well recorded. Aged care workers have little awareness of how to effectively support this population. When encountering an individual with an acquired combined vision and hearing loss, however, an aged care worker will develop strategies to support the individual. Individuals with this acquired dual-sensory loss, as well as dementia, pose a significant challenge to aged care workers, and dementia is often the primary focus of intervention. Implications for Practitioners: It appears that older individuals living in aged care settings who have acquired combined vision and hearing loss are not adequately identified, nor are aged care workers adequately trained to support individuals with this unique disability.

Molecular diagnose of a large hearing loss population from China by targeted genome sequencing

Hereditary hearing loss is genetically heterogeneous, with diverse clinical manifestations. Here we performed targeted genome sequencing of 227 hearing loss related genes in 1027 patients with bilateral hearing loss and 520 healthy volunteers with normal hearing to comprehensively identify the molecular etiology of hereditary hearing loss in a large cohort from China. We obtained a diagnostic rate of 57.25% (588/1027) for the patients, while 4.67% (48/1027) of the patients were identified with uncertain diagnoses. Of the implicated 35 hearing loss genes, three common genes, including SLC26A4(278/588), GJB2(207/588), MT-RNR1(19/588), accounted for 85.54% (503/588) of the diagnosed cases, while 32 uncommon hearing loss genes, including MYO15A, MITF, OTOF, POU3F4, PTPN11, etc. accounted for the remaining diagnostic rate of 14.46% (85/588). Apart from Pendred syndrome, other eight types of syndromic hearing loss were also identified. Of the 64 uncertain significant variants and 244 pathogenic/likely pathogenic variants identified in the patients, 129 novel variants were also detected. Thus, the molecular etiology presented with high heterogeneity with the leading causes to be SLC26A4 and GJB2 genes in the Chinese hearing loss population. It’s urgent to develop a database of the ethnicity-matched healthy population as well as to perform functional studies for further classification of uncertain significant variants.

Hearing Loss in Patients With Morquio Syndrome: Protocol for a Scoping Review.

BackgroundMild to moderate hearing loss is common in patients with mucopolysaccharidosis (MPS) IVA. The hearing loss can be conductive, sensorineural, or mixed. However, in these patients, the mixed form is frequent, attributed to the combination of conductive and neurosensory elements, with slowly progressive evolution. Conductive hearing loss may be secondary to recurrent upper respiratory tract infections, serous otitis media, and deformities of the ear ossicles due to the accumulation of glycosaminoglycans (GAGs). Meanwhile, the sensorineural form is mainly attributed to the accumulation of GAGs in the auditory system.ObjectiveThe aim of this scoping review is to understand the extent and type of evidence in relation to the physiopathology, classification, epidemiology, and clinical management of hearing loss and the effect of therapy for hearing loss in patients with MPS IVA.MethodsThis scoping review includes participants across all genders and of no particular age group who are diagnosed with MPS IVA and develop hearing loss as a comorbidity. No exclusion criteria (country, language, or document type) will be applicable. The information sources will include experimental and quasi-experimental, analytical observational, observational, and qualitative studies. Unpublished literature will not be covered. Grey literature will be covered. A total of 2 independent reviewers will participate in the process of screening the literature, paper selection, and data extraction, and this process will be performed blindly. When all manuscripts have been selected, disagreements that arise between the 2 reviewers at each stage of the selection process will be resolved through discussion or with an additional reviewer. Results will be reported with descriptive statistics and information will be displayed in a diagrammatic or tabular manner, as explained in the JBI guidelines.ResultsThe literature search was performed in November 2021 in MEDLINE, LILACS (Literatura Latino-Americana e do Caribe em Ciências da Saúde), the Cochrane Library, ScienceDirect, Google Scholar, and OpenGrey; a total of 780 results were retrieved. Completion of the review is expected in mid-2022.ConclusionsThis scoping review will be the first to describe the extent of the information regarding the development of hearing loss in the MPS IVA population. The data gathered by this review may lead to an understanding of the grade of hearing loss in this population and allow for the assessment of possible interventions according to the disease pattern.International Registered Report Identifier (IRRID)PRR1-10.2196/32986

French Version of the Antiphasic Digits-in-Noise Test for Smartphone Hearing Screening.

In France 58% of persons with hearing loss still do not wear hearing aids. Pure-tone audiometry is the traditional gold standard in assessment and screening of hearing impairment, but it requires the use of calibrated devices and soundproof booth. The antiphasic digits-in-noise (DIN) test does not require calibrated material and can run on a standard headset or earbuds connected to a smartphone or a computer. The DIN test is highly correlated with pure tone audiometry and has already shown to be effective in hearing loss screening in its English version promoted by the WHO. The aim of the present study was to develop and validate a French version of the antiphasic DIN test for implementation on a national screening test offered as a smartphone app. The audio files recorded from a French native female speaker were selected and normalized in intensity according to their recognition probability. The French DIN test application was then tested on normal hearing- and hearing-impaired subjects. Based on the strong correlation between pure tone audiometry (PTA) and DIN SRT, we calculated ROC curves and Z-score. For PTA > 20 dB HL, a SNR cutoff of 12.9 dB corresponds to a sensitivity and specificity of 0.96 and 0.93, respectively. To detect moderate and more severe hearing loss (PTA > 40 dB HL), the SNR cutoff was −10.9 dB, corresponding to a sensitivity and specificity of 0.99 and 0.83, respectively. The Z-score was calculated to define statistical criteria of normality for speech-in-noise evaluation. While a score of 0 roughly corresponds to the normality (DIN SRT = −15.4 dB SNR), a subject with DIN SRT > −12.2 (Z-score > 2) is ranked in the hearing loss population. Next, the French antiphasic DIN test was implemented in the Höra iOS and Android apps. In total, 19,545 Höra tests were completed and analyzed. Three quarters of them were classified as normal (74 %) and one quarter presented mild (9%) or more severe loss (17%). Together, results argue for the use of the French version of antiphasic DIN test in the general population to improve the screening of hearing-impaired individuals.

Prevalence of Sensorineural Hearing Loss in Pediatric Patients with Sickle Cell Disease: A Meta-analysis.

To determine the prevalence of Sensorineural Hearing Loss (SNHL) attributable to Sickle Cell Disease (SCD) in the global pediatric population and to identify factors contributing to its severity. Meta-analysis. We performed a comprehensive literature search for scientific articles in PubMed, Scopus, CINAHL, Web of Science, and the Cochrane Library that reported the incidence of hearing loss in populations under 18 years of age with excluding studies analyzing patients on iron chelation therapy, adults, or those without objective audiological analysis. We identified 138 initial studies with 17 selected for analysis after applying the exclusion criteria. A total of 1,282 SCD patients and 553 controls were included in the meta-analysis. There was a statistically significant increase in the prevalence of SNHL in children with SCD compared to the general population with a cumulative risk ratio of 3.33. This is the first systematic investigation of the relationship between SCD and SNHL in pediatric patients across the globe. The increased prevalence of SNHL in the pediatric SCD population warrants future research into the predictors of SNHL severity and merits routine audiometric monitoring of SCD patients to reduce the social and developmental morbidity of hearing loss at a young age. PROSPERO Registration #: CRD42019132601. Laryngoscope, 131:1147-1156, 2021.

Identification of a novel mutation of CEACAM16 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss

Objective:To explore the genetic cause of a Chinese autosomal dominant nonsyndromic hearing loss family and investigate the clinical features and molecular genetic characteristics of this family. Method:Detailed medical history and systematic audiology tests were carried out in the family members, and they were subjected to comprehensive genetic analyses using massively parallel sequencing, which targeted 139 known deafness genes and 6 mitochondrial DNA mutations associated with hearing loss. Result:This family's hearing loss was consistent with autosomal dominant nonsyndromic hearing loss. The affected family members appeared to have developed a high-frequency hearing loss with the onset of twenties. We identified a heterozygous missense mutation, c.418A>G/p. Thr140Ala in the CEACAM16 gene, segregating with the deafness in this family. Conclusion:In this study, we identified a new mutation of CEACAM16 gene, which was the second mutation identified in Chinese hearing loss population. It has enriched the mutation spectrum of this gene.

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.

Mutations in more than 150 genes are responsible for inherited hearing loss, with thousands of different, severe causal alleles that vary among populations. The Israeli Jewish population includes communities of diverse geographic origins, revealing a wide range of deafness-associated variants and enabling clinical characterization of the associated phenotypes. Our goal was to identify the genetic causes of inherited hearing loss in this population, and to determine relationships among genotype, phenotype, and ethnicity. Genomic DNA samples from informative relatives of 88 multiplex families, all of self-identified Jewish ancestry, with either non-syndromic or syndromic hearing loss, were sequenced for known and candidate deafness genes using the HEar-Seq gene panel. The genetic causes of hearing loss were identified for 60% of the families. One gene was encountered for the first time in human hearing loss: ATOH1 (Atonal), a basic helix-loop-helix transcription factor responsible for autosomal dominant progressive hearing loss in a five-generation family. Our results show that genomic sequencing with a gene panel dedicated to hearing loss is effective for genetic diagnoses in a diverse population. Comprehensive sequencing enables well-informed genetic counseling and clinical management by medical geneticists, otolaryngologists, audiologists, and speech therapists and can be integrated into newborn screening for deafness.

Genomic analysis of inherited hearing loss in the Palestinian population

The genetic characterization of a common phenotype for an entire population reveals both the causes of that phenotype for that place and the power of family-based, population-wide genomic analysis for gene and mutation discovery. We characterized the genetics of hearing loss throughout the Palestinian population, enrolling 2,198 participants from 491 families from all parts of the West Bank and Gaza. In Palestinian families with no prior history of hearing loss, we estimate that 56% of hearing loss is genetic and 44% is not genetic. For the great majority (87%) of families with inherited hearing loss, panel-based genomic DNA sequencing, followed by segregation analysis of large kindreds and transcriptional analysis of participant RNA, enabled identification of the causal genes and mutations, including at distant noncoding sites. Genetic heterogeneity of hearing loss was striking with respect to both genes and alleles: The 337 solved families harbored 143 different mutations in 48 different genes. For one in four solved families, a transcription-altering mutation was the responsible allele. Many of these mutations were cryptic, either exonic alterations of splice enhancers or silencers or deeply intronic events. Experimentally calibrated in silico analysis of transcriptional effects yielded inferences of high confidence for effects on splicing even of mutations in genes not expressed in accessible tissue. Most (58%) of all hearing loss in the population was attributable to consanguinity. Given the ongoing decline in consanguineous marriage, inherited hearing loss will likely be much rarer in the next generation.

Characterization of Sensorineural Hearing Loss in Adult Patients With Sickle Cell Disease: A Systematic Review and Meta-analysis.

To determine the prevalence of sensorineural hearing loss (SNHL) attributable to sickle cell disease (SCD) in the global adult population and to identify factors contributing to its severity. Systematic Review and Meta-analysis. We performed a comprehensive literature search for scientific articles in PubMed, Scopus, CINAHL, Web of Science, and the Cochrane Library that reported the incidence of hearing loss in populations over 18 years of age with SCD. We identified 138 studies from the initial search, 12 of which met inclusion criteria and were utilized for data analysis. A total of 636 SCD patients and 360 controls were included in the Cochrane Review Manager 5.3 meta-analysis. There was a statistically significant increase in the prevalence of SNHL in adults with SCD compared with the general population with a cumulative risk ratio (RR) of 6.03. This is the first systematic investigation of the relationship between SCD and SNHL in adult patients across the globe. SNHL is more prevalent in patients with SCD, specifically those of the HbSS genotype, than the general population likely due to the pathophysiology of the disease and its effects on labyrinthine microvasculature. The increased prevalence of SNHL in the adult SCD population warrants future research into the predictors of SNHL severity and merits routine audiometric monitoring of adult SCD patients.

Pediatric Cochlear Implantation: Who is a Candidate in 2020?

Pediatric Cochlear Implantation: Who is a Candidate in 2020?

Increased atherogenic index in the general hearing loss population.

PurposeThe purpose of this study was to evaluate the association of hearing loss with atherogenic index (AI) in the general population.MethodsA multistage study using cluster random sampling method was conducted in the Zhejiang province from 2016 to 2018. Pure-tone air-conduction hearing thresholds were measured at frequencies of 0.125–8 kHz for each subject. After obtaining their consent, all participants were asked to provide their own plasma lipid data.ResultsA total of 3,414 eligible participants were included, 1,765 (51.7%) were men and 1,649 (48.3%) were women and 1,113 (32.6%) had hearing loss. Ridge regression showed increased AI in subjects with hearing loss. The subgroup with the highest quartile of AI, presenting the highest risk of hearing loss as compared to the lowest quartile, comprised young and middle-aged women. Further analysis revealed that the AI in people with different categories of hearing loss was higher than that in the normal population, except for those with (extremely) severe hearing loss. Moreover, the young and middle-aged women exhibited the most significant correlations between AI and hearing loss.ConclusionAI was positively associated with hearing loss in the general population, especially the young and middle-aged women.

Characteristics of auditory brainstom response and auditory steady state evoked responses in noise-induced hearing loss population

Objective: To explore the characteristics of auditory steady state evoked responses (ASSR) and auditory brainstem response (ABR) in noise-induced hearing loss population and the relationship between the response threshold of corresponding frequency and pure tone audiometry (PTA) . Methods: Noise-induced hearing loss patients who completed subjective and objective audiometry in our hospital from October 2014 to October 2018 were collected. The results of PTA, ABR, ASSR and the correlation between subjective and objective audiometry were discussed. Results: A total of 381 ears of 193 patients were enrolled. The difference of 0.5, 1.0, 2.0 and 4.0 kHz between ASSR threshold and PTA was 5.9, 6.9, 11.8 and 1.8 dB, respectively. The correlation coefficients were 0.638, 0.680, 0.657 and 0.608. The difference of 1.0, 2.0, 3.0 and 4.0 kHz between ABR threshold and PTA was 44.2, 35.0, 19.0 and 2.0 dB. With the increase of frequency, the threshold difference between ABRt V wave and PTA decreased gradually. Conclusion: ASSR and ABR response thresholds are valuable in subjective assessment on noise-induced hearing loss. The thresholds of ASSR and ABR at 4 kHz are close to those of PTA.

OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients.

The OTOF gene (Locus: DFNB9), encoding otoferlin, is reported to be one of the major causes of non-syndromic recessive sensorineural hearing loss, and is also reported to be the most common cause of non-syndromic recessive auditory neuropathy spectrum disorder (ANSD). In the present study, we performed OTOF mutation analysis using massively parallel DNA sequencing (MPS). The purpose of this study was to reveal the frequency and precise genetic and clinical background of OTOF-related hearing loss in a large hearing loss population. A total of 2,265 Japanese sensorineural hearing loss (SNHL) patients compatible with autosomal recessive inheritance (including sporadic cases) from 53 otorhinolaryngology departments nationwide participated in this study. The mutation analysis of 68 genes, including the OTOF gene, reported to cause non-syndromic hearing loss was performed using MPS. Thirty-nine out of the 2,265 patients (1.72%) carried homozygous or compound heterozygous mutations in the OTOF gene. It is assumed that the frequency of hearing loss associated with OTOF mutations is about 1.72% of autosomal recessive or sporadic SNHL cases. Hearing level information was available for 32 of 39 patients with biallelic OTOF mutations; 24 of them (75.0%) showed profound hearing loss, 7 (21.9%) showed severe hearing loss and 1 (3.1%) showed mild hearing loss. The hearing level of patients with biallelic OTOF mutations in this study was mostly severe to profound, which is consistent with the results of past reports. Eleven of the 39 patients with biallelic OTOF mutations had been diagnosed with ANSD. The genetic diagnosis of OTOF mutations has significant benefits in terms of clinical decision-making. Patients with OTOF mutations would be good candidates for cochlear implantation; therefore, the detection of OTOF mutations is quite beneficial for patients, especially for those with ANSD.