GJB2-related hearing loss is the most common type of hereditary hearing loss worldwide. However, its complex inheritance patterns, diverse phenotypic manifestations, and population-specific variant spectrum present significant challenges for both clinical practice and research. This review synthesizes evidence from 215 studies (7142 individuals) to quantitatively analyze the natural history and genotype-phenotype correlations across different inheritance patterns, including recessive, dominant, and digenic forms. Among V37I, the V37I/NT genotype is associated with a high proportion of mild-to-moderate hearing loss (84.15%), and the V37I/T genotype shows a flatter configuration than V37I/V37I. An analysis of 178 syndromic cases reveals complex phenotypes involving both the skin and auditory system, characterized by early-onset and severe hearing loss, with clear genotype-phenotype correlations for specific variants. We also summarize genomic and epigenetic mechanisms contributing to phenotypic severity. With a focus on clinical translation, we review the trajectory of GJB2 gene therapy research, from foundational animal studies to innovative therapeutic strategies approaching clinical application. By evaluating the natural history and genotype-specific auditory profiles, this work provides a practical evidence base to guide prognosis, genetic counseling, and crucially, the design of upcoming clinical trials, including patient selection and efficacy assessment. This review is registered with PROSPERO (CRD420251243620).

BackgroundThe potential risk factors for concurrent newborn hearing screening and genetic screening remain unclear, posing challenges to the prevention of hearing loss. Although gestational age and birth weight are known to influence hearing development, their associations with newborn hearing screening referral remain controversial due to limited large-scale validation.MethodsThis retrospective population-based cohort study included 76,460 newborns who underwent concurrent newborn and genetic screening. Restricted cubic splines and piecewise linear models were used to identify threshold effects in the associations of birth weight and gestational age with initial hearing screening referral, second hearing screening outcomes, and genetic screening results. Sensitivity analyses were conducted by including sex and Apgar scores.ResultsWe identified non-linear, U-shaped associations between birth weight, gestational age and the odds of referral at initial hearing screening. A birth weight of 3,297 g and gestational age of 39.19 weeks were key change points. Infants above or below these points had increased odds of referral at initial hearing screening. Neither second hearing nor genetic screening results showed significant associations with both factors. Sex-stratified analysis showed male infants had higher odds of referral at initial hearing screening, with similar non-linear patterns observed for gestational age. Adjusting for Apgar scores confirmed these results, with the thresholds at a birth weight of 3,297 g and gestational age of 39.27 weeks.ConclusionBirth weight and gestational age were associated with initial hearing screening referral only. The lowest referral odds occurred around 3.3 kg and 39 weeks of gestation, which may help identify newborns who require closer follow-up after initial screening.

Age-related hearing loss (ARHL) has been closely linked to genetic factors, with studies identifying the p.V37I mutation in the GJB2 gene as a potential contributor to ARHL. To investigate this, we generated a humanized p.V37I mutant mouse model and performed auditory brainstem response (ABR) testing, cochlear morphology assessments, and transcriptional sequence of mutant and wild-type (WT) mice at different ages. Our results indicated that this kind of GJB2 mutation does not lead to cochlear developmental abnormalities, and aging mutant mice exhibit only mild hearing loss compared to WT mice, without significant cochlear morphological differences. However, transcriptional analyses revealed substantial differences between mutant and WT mice. GO enrichment analysis of the DEGs between aging mutant and WT mice highlights significant enrichment in biological processes related to neural and sensory functions. Notably enriched terms include "neuron-to-neuron synapse," "immune response-activating signaling pathway," "regulation of synapse structure or activity," and "sensory perception of sound." These findings suggest that the p.V37I mutation in aging mice affects synaptic and calcium signaling pathways, as well as sensory system development. Despite these molecular changes, cochlear function remains normal in early life; however, as the mice age, hearing loss accelerates, likely due to a diminished capacity for gene-mediated protection against external stimuli.

BackgroundDecision-making on how to conduct the concurrent hearing and genetic screening of newborns lacks a health economics basis. To estimate the cost-effectiveness of different newborn hearing screening strategy is necessary.MethodsA decision tree for a simulated cohort population of 9.56 million newborns was developed: (1) Only universal newborn hearing screening (UNHS); (2) Targeted deafness genetic screening; (3) Concurrent hearing and genetic screening. Markov model was used to evaluate the lifetime horizon (78 years). Cost values were estimated based on medical expenses at Beijing Tongren Hospital and previous studies based on a health system perspective. Health state utility values were represented by Quality-adjusted Life Years (QALYs), costs and utilities were discounted at a rate of 3%. The Incremental Cost-effectiveness Ratio (ICER) was analyzed, along with one-way sensitivity analysis and probability sensitivity analysis.ResultsCompared with only UNHS strategy, the ICER of targeted screening strategy is $ 181.9/QALY, the ICER of concurrent screening is $ 1,563.45/QALY at the discounted rate of 3%. UNHS confirms 21,098 cases of hearing loss, of which 18,666 patients receive early hearing intervention. Concurrent screening confirms 34,244 cases of hearing loss, 26,000 of which receive early hearing intervention. Additionally, 27,036 cases of ototoxicity deafness are avoided. Reducing the cost of genetic screening could enhance the cost-effectiveness of both concurrent screening strategy and targeted genetic screening strategies. At a willingness to pay threshold of 1 time the per capita GDP, at $12,741, the probability of the concurrent screening strategy being cost-effective was 57.6%; at a willingness to pay is three times the per capita GDP, at $38,223, the probability of the concurrent screening strategy being cost-effective was 59.10%.ConclusionBoth the targeted screening and concurrent screening strategy exhibit good cost-effectiveness compared with only UNHS strategy. The targeted screening strategy is preferable when the willingness to pay is between $181.90/QALY and $1,563.45/QALY, whereas the concurrent screening strategy becomes the preferred choice when the willingness to pay exceeds $1,563.45/QALY.

This article aims to identify research hotspots and trends in research on SLC26A4 gene-related hearing loss through bibliometric and visual analyses, providing a reference and direction for future research. Publications on SLC26A4 gene research in hearing loss from 1994 to 2023 were retrieved from the Web of Science Core Collection database. Bibliometric analysis was conducted using the Bibliometrix 4.0.0 R package, CiteSpace 6.2.R6 software, and VOSviewer 1.6.20. The analysis encompassed journals, authors, keywords, institutions, countries, and references. Based on the analysis results, network maps were generated to evaluate collaborations among authors, countries, institutions, keyword co-occurrences, and co-citation references. This study identified 1,308 publications from 62 countries. Annual publication numbers have increased with fluctuations, showing rapid growth since 2011. The USA emerged as the leading contributor in this field based on scientific production, citations, and cooperation networks. International Journal of Pediatric Otorhinolaryngology had the highest number of publications, while Laryngoscope was the most cited journal. Harvard University was the most productive institution. Key researchers included Dai Pu, Griffith Andrew J., and Usami Shin-Ichi. There have been active collaborations between countries, authors, and institutions. The primary research topics focused on genotype-phenotype correlations, genetic screening, diagnostic advancements, and exploration of pathogenic mechanisms. Research on SLC26A4 gene-related hearing loss has notably increased since 2011, with ongoing clinical investigations and basic research efforts. Future studies may further explore disease mechanisms and potential therapeutic interventions related to the SLC26A4 gene.

To explore the trend of hearing changes in infants with

Objective:To explore the trend of hearing changes in infants with GJB2 gene p.V37I mutation at different months. Methods:The subjects were 54 children（108 ears） with p.V37I homozygous or compound heterozygous mutation in GJB2 gene. All the subjects underwent auditory brainstem response, auditory steady-state response, acoustic immittance and other audiological tests. Children were divided into three groups according to their age, 26 cases in group A were ≤3 months old, 17 cases in group B were>3~≤6 months old, and 11 cases in group C were>6 months old. Statistical analysis was performed on the three groups of ABR response threshold, hearing degree, the ASSR average response threshold of four frequencies and the ASSR response thresholds for each frequency of 500, 1 000, 2 000 and 4 000 Hz. Results:Among the 54 cases, 35 were male and 19 were female, with an age rang of 2-27 months and a median age of 4 months. The ABR response threshold of the three groups were ranked from low to high as group A, group B and group C, and the difference was statistically significant（P<0.05）. The ABR response thresholds of the three groups were ranked from low to high as group A, group B, and group C. The comparison between groups showed that the ABR response thresholds of group C was higher than that of group A（P=0.006）. The proportion of confirmed hearing loss in the three groups was 34.61%, 50.00% and 63.64%, respectively, and the difference of hearing level among the three groups was statistically significant（P<0.05）. The comparison between groups showed that the difference between group A and group C was statistically significant（P=0.012）, normal hearing accounted for the highest proportion in group A（65.39%）, while mild hearing loss accounted for the highest proportion in group C（45.46%）. The ASSR average response thresholds of the four frequencies in the three groups were ranked from low to high as group A, group B and group C, and the difference is statistically significant（P<0.05）. The comparison between groups showed that response ASSR thresholds of group C was higher than that of group A（P=0.002）. Response thresholds of ASSR in each frequency in the three groups were all ranked from low to high as in group A, group B and group C, and the differences were statistically significant（P<0.05）. Compared with each other between groups, response ASSR thresholds of group C was higher than those of group A（P=0.003） and group B（P=0.015） at 500 Hz, while response ASSR thresholds of group C was higher than group A at 1 000 Hz（P=0.010） and 2 000 Hz（P<0.001）, and there was no statistical difference at 4 000 Hz. Conclusion:The incidence of hearing loss in GJB2 gene p.V37I mutation increased with age, and the degree of hearing loss increased, the hearing progression was mainly 500, 1 000 and 2 000 Hz suggesting regular follow-up and alert to hearing changes.

Objective:To explore the feasibility of the multiple-choice auditory graphical interactive check（MAGIC） screening module in childhood hearing screening in children aged 3 to 6 years. Methods:A hearing screening was conducted on 366 children（732 ears） aged between 3 and 6 years. The screening methods included MAGIC, DPOAE, and acoustic immittance.The cooperation, screening time, pass rate, and correlation of the three screening methods were compared. Results:There was a statistically significant difference in the degree of cooperation among the three screeningmethods（P=0.004）.The MAGIC pure tone screening method was 98.6%, the screening DPOAE was 99.5%,and the acoustic immittance screening was 100%. For the screening duration, the MAGIC pure tone screening method was（116.3±59.1）s, the screening DPOAE was（27.2±19.7）s, and the acoustic impedance screening was（24.6±14.6）s. There was a significant statistical significance differences among the three or two groups（P<0.01）. The passing rates of MAGIC pure tone screening,screening DPOAE and acoustic immittance screening were 64.7%, 65.4%, and 69.3%, respectively, and there was no significant statistical difference among the three or two groups（P>0.05）. There was no significant difference between MAGIC pure tone screening method and screening DPOAE（P=0.827>0.05）, and acoustic impedance（P=0.653>0.05）, while the difference between screening DPOAE and acoustic impedance was statistically significant（P<0.01）. Conclusion:MAGIC pure sound screening method has good feasibility, can comprehensively reflect the hearing level of screened children, and can be promoted for hearing screening in children aged between 3 and 6 years.

To analyze SLC26A4 gene mutations in children with large vestibular aqueduct syndrome (LVAS) with or without Mondini malformation, and to compare their hearing phenotypes, rehabilitation outcomes, and learning performance after cochlear implantation. We used T7 Endonuclease I enzyme digestion to detect SLC26A4 mutations in 48 children with LVAS without Mondini malformation (EVA group), 29 children with LVAS and Mondini malformation (EVA + MD group). Negative results were confirmed by Sanger sequencing. Auditory performance (CAP) and speech intelligibility (SIR) scores assessed hearing and speech rehabilitation outcomes, while academic performance evaluated learning post-cochlear implantation. Electrophoresis showed that the positive detection rates of SLC26A4 mutations were 89.58

PURPOSE:To explore how hearing changes over time and the characteristics associated with progressive hearing loss in children with enlarged vestibular aqueduct (EVA), and develop a prediction model for anticipation of hearing progression probability. METHODS:A retrospective analysis was conducted on 48 children (92 ears) diagnosed with EVA. A total of 314 audiograms were included in the analysis of hearing loss trajectories using linear mixed-effects model. Progressive hearing loss was defined based on the difference between the initial and final hearing threshold. All participants had underwent one or two gene detection methods, including deafness gene screening and SLC26A4 whole coding exon sequencing. RESULTS:The pure-tone thresholds (PTTs) at frequencies of 500 Hz, 1000 Hz, 2000 Hz, 4000 Hz and the average are expected to increase by 0.34, 0.49, 0.54, 0.57, and 0.55 dB HL per each additional month. Age and genotypes have an interactive effect on PTT at frequencies of 500 Hz, 1000 Hz, and the average. The hazard ratio for the genotype without SLC26A4 c.919-2 A > G mutation was 4.91 (95 % confidence interval 1.76-13.7, P < 0.01). This prediction model fitted using age, initial average PTT, midpoint size of vestibular aqueduct, incomplete partition type II, and genotypes of SLC26A4 showed strong consistency and differentiation. CONCLUSION:These findings reveal that the PTT would deteriorate over time in patients with EVA. The hearing threshold at high frequency and genotype without c.919-2 A > G heterozygous mutation deteriorated relatively fast. Genotype is an important predictive factor and the nomogram helps to predict progressive hearing loss.

Gene therapy for monogenic auditory neuropathy (AN) has successfully improved hearing function in target gene -deficient mice. Accurate genetic diagnosis can not only clarify the etiology but also accurately locate the lesion site, providing a basis for gene therapy and guiding patient intervention and management strategies. In this study, we collected data from a family with a pair of sisters with prelingual deafness. According to their auditory tests, subject II -1 was diagnosed with profound sensorineural hearing loss (SNHL), II -2 was diagnosed with AN, I-1 was diagnosed with highfrequency SNHL, and I-2 had normal hearing. Using whole-exome sequencing (WES), one nonsense mutation, c.4030C>T (p.R1344X), and one missense mutation, c.5000C>A (p.A1667D), in the OTOF (NM_001287489.1) gene were identified in the two siblings. Their parents were heterozygous carriers of c.5000C>A (father) and c.4030C>T (mother). We hypothesized that c.5000C>A is a novel pathogenic mutation. Thus, subject II -1 should also be diagnosed with AN caused by OTOF mutations. These findings not only expand the OTOF gene mutation spectrum for AN but also indicate that WES is an effective approach for accurately diagnosing AN.

Objective:To analyze the mutation spectrum of 23-site chip newborn deafness genetic screening in Beijing, and to provide basis for genetic counseling and clinical diagnosis and treatment. Methods:The study included 21 006 babies born in Beijing from December 2022 to June 2023. All subjects underwent newborn deafness genetic screening in Beijing Tongren Hospital, covering 23 variants in 4 genes, the GJB2 gene（c.35delG, c.176_191del16, c.235delC, c.299_300delAT, c.109G>A, c.257C>G, c.512insAACG, c.427C>T, c.35insG）, SLC26A4 gene（c.919-2A>G, c.2168A>G, c.1174A>T, c.1226G>A, c.1229C>T, c.1975G>C, c.2027T>A, c.589G>A, c.1707+5G>A, c.917insG, c.281C>T）, Mt12SrRNA（m.1555A>G, m.1494C>T） and GJB3 gene（c.538C>T）. The mutation detection rate and allele frequency were analyzed. Results:The overall mutation detection rate was 11.516%（2 419/21 006）, with the GJB2 gene being the most frequently involved at 9.097%（1 911/21 006）, followed by the SLC26A4 gene at 2.123%（446/21 006）, the GJB3 gene at 0.362%（76/21 006） and Mt12SrRNA at 0.176%（37/21 006）. Among the GJB2 genes, c.109G>A and c.235delC mutation detection rates were the highest, with 6.579%（1 382/21 006） and 1.795%（377/21 006）, respectively. Of the SLC26A4 genes, c.919-2A>G and c.2168A>G had the highest mutation rates of 1.423%（299/21 006） and 0.233%（49/21 106）, respectively. Regarding the allele frequency, GJB2 c.109G>A was the most common variant with an allele frequency of 3.359%（1 411/42 012）, followed by the GJB2 c.235delC at 0.897%（377/42 012） and the SLC26A4 c.919-2A>G at 0.719%（302/42 012）. Conclusion:23-site chip newborn deafness genetic screening in Beijing showed that GJB2 c.109G>A mutation detection rate and allele frequency were the highest. This study has enriched the epidemiological data of 23-site chip genetic screening mutation profiles for neonatal deafness, which can provide evidence for clinical practice.

BackgroundWhile global newborn hearing screening programmes (NHSP) are far from the optimal level, the combined hearing and genetic screening has emerged as an innovative approach of early healthcare interventions. There is a clear need for economic evaluation to establish whether newborn deafness gene screening (NDGS), currently mandated by many cities in China, is a good investment.MethodsA decision-tree model was constructed to simulate a hypothetical 10-million Chinese newborn cohort over a lifetime with three strategies: (1) no screening, (2) NHSP (standard screening) and (3) NHSP+NDGS (combined screening). The presence of permanent congenital hearing loss (PCHL) and genetic mutation were assigned at birth and held constant for all strategies. Input parameters were obtained from the Cohort of Deafness-gene Screening study and literature review. The government contract price for genetic screening was US$77/child. Outcomes of interest included the number of early diagnosed PCHL, prelingual deafness, total deafness, special education referral, incremental cost-effectiveness ratio (ICER) and benefit–cost ratio (BCR).ResultsBoth standard and combined screening strategies were more effective and more costly than ‘no screening’. Compared with standard screening, combined screening led to 9112 (28.0%) more PCHL cases early detected, avoiding 4071 (66.9%) prelingual deafness cases and 3977 (15.6%) special education referrals. The ICER and BCR for combined screening were US$ 4995/disability-adjusted life-year (95% uncertainty interval, 2963 to 9265) and 1.78 (1.19 to 2.39), from healthcare sector perspective. Combined screening would dominate standard screening from societal perspective. Moreover, it remained cost-effective even in pessimistic scenarios.ConclusionsOur findings have particular implication for the ‘scale-up’ of genetic screening at the national level in China. The model may serve as a feasible example for hearing screening strategies in other countries, as well as genetic screening for other diseases.

Hearing loss is the third most prevalent physical condition affecting communication, well-being, and healthcare costs. Sensorineural hearing loss often occurs first in the high-frequency region (basal turn), then towards the low-frequency region (apical turn). However, the mechanism is still unclear. Supporting cells play a critical role in the maintenance of normal cochlear function. The function and supporting capacity of these cells may be different from different frequency regions. Hensen's cells are one of the unique supporting cell types characterized by lipid droplets (LDs) in the cytoplasm. Here, we investigated the morphological and gene expression differences of Hensen's cells along the cochlear axis. We observed a gradient change in the morphological characteristics of Hensen's cells along the cochlear tonotopic axis, with larger and more abundant LDs observed in apical Hensen's cells. Smart-seq2 RNA-seq revealed differentially expressed genes (DEGs) between apical and basal Hensen's cells that clustered in several pathways, including unsaturated fatty acid biosynthesis, cholesterol metabolism, and fatty acid catabolism, which are associated with different energy storage capacities and metabolic potential. These findings suggest potential differences in lipid metabolism and oxidative energy supply between apical and basal Hensen's cells, which is consistent with the morphological differences of Hensen's cells. We also found differential expression patterns of candidate genes associated with hereditary hearing loss (HHL), noise-induced hearing loss (NIHL), and age-related hearing loss (ARHL). These findings indicate functional heterogeneity of SCs along the cochlear axis, contribute to our understanding of cochlear physiology and provide molecular basis evidence for future studies of hearing loss.

To analyze the hearing phenotypes of p. V37I homozygote and compound heterozygote mutation in

Genetic screening of newborns for deafness plays an important role in elucidating the etiology of deafness, diagnosing it early, and intervening in it. Genetic screening of newborns has been conducted for 11 years in Beijing. It started with a chip to screen for 9 variants of 4 genes in 2012; the chip screened for 15 variants of those genes in 2018, and it now screens for 23 variants of those genes. In the current study, a comparative analysis of three screening protocols and follow-up for infants with pathogenic variants was performed. The rates of detection and hearing test results of infants with pathogenic variants were analyzed. Subjects were 493,821 infants born at 122 maternal and child care centers in Beijing from April 2012 to August 2023. Positivity increased from 4.599% for the chip to screen for 9 variants to 4.971% for the chip to screen for 15 variants, and further to 11.489% for the chip to screen for 23 variants. The carrier frequency of the GJB2 gene increased from 2.489% for the chip to screen for 9 variants and 2.422% for the chip to screen for 15 variants to 9.055% for the chip to screen for 23 variants. The carrier frequency of the SLC26A4 gene increased from 1.621% for the chip to screen for 9 variants to 2.015% for the chip to screen for 15 variants and then to 2.151% for the chip to screen for 23 variants. According to the chip to screen for 9 variants and the chip to screen for 15 variants, the most frequent mutant allele was c.235delC. According to the chip to screen for 23 variants, the most frequent mutant allele was c.109G>A. The chip to screen for 15 variants was used to screen 66.67% (14/21) of newborns with biallelic variants in the SLC26A4 gene for newly added mutations. The chip to screen for 23 variants was used to screen 92.98% (53/57) of newborns with biallelic variants in the GJB2 gene (52 cases were biallelic c.109G>A) and 25% (1/4) of newborns with biallelic variants in the SLC26A4 gene for newly added mutations. Among the infants with pathogenic variants (biallelic variants in GJB2 or SLC26A4), 20.66% (25/121) currently have normal hearing. In addition, 34.62% (9/26) of newborns who passed the hearing screening were diagnosed with hearing loss. Findings indicate that a growing number of newborns have benefited, and especially in the early identification of potential late-onset hearing loss, as the number of screening sites has increased. Conducting long-term audiological monitoring for biallelic variants in individuals with normal hearing is of paramount significance.

Objective:To analyze the hearing phenotypes of p. V37I homozygote and compound heterozygote mutation in GJB2 gene, and to provide basis for genetic counseling. Methods:Fifty-three subjects with p. V37I homozygote and compound heterozygote mutation were recruited at Department of Otolaryngology Head and Neck Surgery, Beijing Tongren Hospital from January 2023 to March 2024. All subjects received universal newborn hearing screening（UNHS）, 23-site chip neonatal deafness genetic screening and audiological tests, including ABR, acoustic immittance, DPOAE, ASSR. The results of newborn hearing screening and hearing diagnosis were compared between homozygous mutation group of 30 cases and compound heterozygous mutation group of 23 cases. Results:In 53 cases, the overall refer rate of UNHS was 64.15%（34/53）, the refer rate of homozygous mutation group was 80.00%（24/30）, which was higher than that of compound heterozygous mutation group（43.48%, 10/23）, the difference between the two groups was statistically significant（P<0.05）. Three subjects with p. V37I compound heterozygous mutation had passed UNHS and diagnosed with unilateral mild hearing loss. The average age of diagnosis of 53 cases was （3.77±1.40） months, 25 cases with hearing loss accounted for 47.17%, including 13 cases with unilateral, 12 cases with bilateral, 28 cases with normal hearing accounted for 52.83%. There was no significant difference between homozygous mutation group（56.67%, 17/30） and compound heterozygous mutation group（34.78%, 8/23） in the proportion of confirmed hearing loss（P>0.05）. Among 37 ears of 25 patients with hearing loss, the proportion of mild, moderate and profound hearing loss were 70.27%（26/37）, 27.03%（10/37） and 2.70%（1/37）, respectively. The hearing loss degree of the homozygous mutation group and the compound heterozygous mutation group were mainly mild, accounting for 70.37%（19/27） and 70.00%（7/10） respectively. There was no significant difference between the two groups in the distribution of hearing loss degree（P>0.05）. Conclusion:The probability of hearing loss was 47.17% in infants of GJB2 gene p. V37I homozygote and compound heterozygote mutation, mainly mild hearing loss. There was no difference in the probability of hearing loss and the distribution of hearing loss degree between the two groups. Patients with p. V37I homozygous and compound heterozygous mutation currently diagnosed as normal hearing need continuous clinical follow-up.

Objectives: This study aimed to explore the effects of different duration and daily frequency of vestibular rehabilitation (VR) in patients with residual symptoms after benign paroxysmal positional vertigo (BPPV) successful repositioning.Method: Patients with successful BPPV repositioning (n = 118) were divided into 3 groups according to VR duration and frequency: group A (n = 30; 15 minutes, 3 times/day), group B (n = 30; 30 minutes, 3 times/day), group C (n = 28; 15 minutes, 6 times/day), and control group D (n = 30; no VR). All patients completed the dizziness handicap inventory (DHI) and vestibular rehabilitation benefit questionnaire (VRBQ) at baseline and after 2 and 4 weeks.Results: The emotional scores and the proportion of severe dizziness disability in the DHI scores were significant differences between VR groups A to C and control group D after 2 and 4 weeks (all P < .05). There were significant differences in total DHI and VRBQ scores among the VR groups A to C after 2 and 4 weeks (all P < .05). Interestingly, emotion scores were not significantly different in group A (P = .385), group B (P = .569), and group C (P = .340) between 2 and 4 weeks. Meanwhile at 2 weeks, the difference in motion-provoked dizziness score between group A and B was statistically significant (P = .02).Conclusions: A total VR duration over 4 weeks can reduce dizziness and improve VR benefits in routine therapy in patients with residual dizziness after successful BPPV repositioning. Emotional improvement can be observed after 2 weeks. VR may help to relieve motion-provoked dizziness earlier if patients are willing to consider increasing the duration to more than 15 minutes.

Universal newborn hearing screening (UNHS) and audiological diagnosis are crucial for children with congenital hearing loss (HL). The objective of this study was to analyze hearing screening techniques, audiological outcomes and risk factors among children referred from a UNHS program in Beijing. A retrospective analysis was performed in children who were referred to our hospital after failing UNHS during a 9-year period. A series of audiological diagnostic tests were administered to each case, to confirm and determine the type and degree of HL. Risk factors for HL were collected. Of 1839 cases, 53.0% were referred after only transient evoked otoacoustic emission (TEOAE) testing, 46.1% were screened by a combination of TEOAE and automatic auditory brainstem response (AABR) testing, and 1.0% were referred after only AABR testing. HL was confirmed in 55.7% of cases. Ears with screening results that led to referral experienced a more severe degree of HL than those with results that passed. Risk factors for HL were identified in 113 (6.1%) cases. The main risk factors included craniofacial anomalies (2.7%), length of stay in the neonatal intensive care unit longer than 5 days (2.4%) and birth weight less than 1500 g (0.8%). The statistical data showed that age (P < 0.001) and risk factors, including craniofacial anomalies (P < 0.001) and low birth weight (P = 0.048), were associated with the presence of HL. This study suggested that hearing screening plays an important role in the early detection of HL and that children with risk factors should be closely monitored.

Concurrent screening has been proven to provide a comprehensive approach for management of congenital deafness and prevention of ototoxicity. The SLC26A4 gene is associated with late-onset hearing loss and is of great clinical concern. For much earlier detection of newborns with deafness-causing mutations in the SLC26A4 gene, the Beijing Municipal Government launched a chip for optimized genetic screening of 15 variants of 4 genes causing deafness based on a chip to screen for 9 variants of 4 genes, and 6 variants of the SLC26A4 gene have now been added. To ascertain the advantage of a screening chip including 15 variants of 4 genes, the trends in concurrent hearing and genetic screening were analyzed in 2019 and 2020. Subjects were 76,460 newborns who underwent concurrent hearing and genetic screening at 24 maternal and child care centers in Beijing from January 2019 to December 2020. Hearing screening was conducted using transiently evoked otoacoustic emissions (TEOAEs), distortion product otoacoustic emissions (DPOAE), or the automated auditory brainstem response (AABR). Dried blood spots were collected for genetic testing and 15 variants of 4 genes, namely GJB2, SLC26A4, mtDNA 12S rRNA, and GJB3, were screened for using a DNA microarray platform. The initial referral rate for hearing screening decreased from 3.60% (1,502/41,690) in 2019 to 3.23% (1,124/34,770) in 2020, and the total referral rate for hearing screening dropped form 0.57% (236/41,690) in 2019 to 0.54% (187/34,770) in 2020, indicating the reduced false positive rate of newborn hearing screening and policies to prevent hearing loss conducted by the Beijing Municipal Government have had a significant effect. Positivity according to genetic screening was similar in 2019 (4.970%, 2,072/41,690) and 2020 (4.863%,1,691/34,770), and the most frequent mutant alleles were c.235 del C in the GJB2 gene, followed by c.919-2 A > G in the SLC26A4 gene, and c.299 del AT in the GJB2 gene. In this cohort study, 71.43% (5/7) of newborns with 2 variants of the SLC26A4 gene were screened for newly added mutations, and 28.57% (2/7) of newborns with 2 variants of the SLC26A4 gene passed hearing screening, suggesting that a screening chip including 15 variants of 4 genes was superior at early detection of hearing loss, and especially in early identification of newborns with deafness-causing mutations in the SLC26A4 gene. These findings have clinical significance.