Hereditary hearing impairment (HHI) is a common but heterogeneous clinical entity caused by mutations in a plethora of deafness genes. Research over the past few decades has shown that the genetic epidemiology of HHI varies significantly across populations. In this study, we used different genetic examination strategies to address the genetic causes of HHI in a large Taiwanese cohort composed of >5000 hearing-impaired families. We also analyzed the clinical features associated with specific genetic mutations. Our results demonstrated that next-generation sequencing-based examination strategies could achieve genetic diagnosis in approximately half of the families. Common deafness-associated genes in the Taiwanese patients assessed, in the order of prevalence, included GJB2, SLC26A4, OTOF, MYO15A, and MTRNR1, which were similar to those found in other populations. However, the Taiwanese patients had some unique mutations in these genes. These findings may have important clinical implications for refining molecular diagnostics, facilitating genetic counseling, and enabling precision medicine for the management of HHI.

With diverse etiologies and clinical features, the management of pediatric auditory neuropathy spectrum disorder (ANSD) is often challenging, and the outcomes of cochlear implants (CIs) are variable. This study aimed to investigate CI outcomes in pediatric patients with ANSD of different etiologies. Thirty-six children with ANSD who underwent cochlear implantation between 2001 and 2021 were included. Comprehensive etiological analyses were conducted, including a history review, next-generation sequencing-based genetic examinations, and imaging studies using high-resolution computed tomography and magnetic resonance imaging. Serial behavioral and speech audiometry were performed before and after surgery, and the outcomes with CI were evaluated using the Categories of Auditory Performance (CAP) and Speech Intelligibility Rating (SIR) scores. By etiology, 18, 1, 1, and 10 patients had OTOF-related, WFS1-related, OPA1-related, and cochlear nerve deficiency (CND)-related ANSD, respectively. Six patients had no definite etiology. The average CI-aided behavioral threshold was 28.3 ± 7.8 dBHL, and those with CND-related ANSD were significantly worse than OTOF-related ANSD. The patients’ median CAP and SIR scores were 6 and 4, respectively. Favorable CI outcomes were observed in patients with certain etiologies of ANSD, particularly those with OTOF (CAP/SIR scores 5–7/2–5), WFS1 (CAP/SIR score 6/5), and OPA1 variants (CAP/SIR score 7/5). Patients with CND had suboptimal CI outcomes (CAP/SIR scores 2–6/1–3). Identifying the etiologies in ANSD patients is crucial before surgery and can aid in predicting prognoses.

Objective: To determine the hearing outcomes in patients with sudden sensorineural hearing loss (SSNHL) after exposure to different brands of vaccines against COVID-19. Study Design: Cohort study. Setting: Tertiary referral center. Patients: Patients who met the International Classification of Disease, Tenth Revision code, medications, and procedure criteria for SSNHL in 2021. Patients were classified according to their vaccination status. A total of 128 patients (71 males and 57 females; mean age, 53.9 ± 16.5 yr; range, 7.6–82.1 yr) who met the criteria of idiopathic SSNHL were included. Intervention: Exposure to COVID-19 vaccines in 2021. Main Outcome Measurements: Hearing outcomes were classified according to the pure-tone audiometry hearing level, including complete recovery (CR), partial recovery (PR), and no recovery (NR). Time to recovery was defined as the point at which the patient achieved CR or PR. Results: Among them, 35, 54, and 39 patients achieved CR, PR, and NR, respectively. The median time to recovery was 22 (interquartile range, 11–37) days. No significant differences were observed in hearing recovery in vaccinated or unvaccinated patients. Conclusion: Our preliminary study failed to show significant differences in hearing recovery among patients with SSNHL regardless of the vaccine exposure status. The administration of COVID-19 vaccines should not be influenced by their potential association with SSNHL, as our findings indicate no significant effect on hearing outcomes. However, as a preliminary study with limited statistical power, future large-scale studies are necessary to validate these results.

An audiogram records the hearing status, including each hearing threshold at multiple frequencies. While deep learning is gradually maturing in the clinical research approach, audiologists could speed up their diagnostic process with audiogram digitization for handwritten graphs or electronically generated images from instruments. However, given the diversity of audiogram symbols and formats, the existing audiogram digitization model has room for improvement in recognition accuracy. We propose a multi-stage workflow to enhance accuracy by integrating YOLOv5 and the optical character recognition (OCR) model. Our proposed audiogram digitization model could identify all audiogram symbols with an accuracy rate of 98%. We hope that this model could help future research in audiology.

Tinnitus affects about 10% of population worldwide. Most patients present with some degrees of hearing impairment, while others remain normal. The aim of this study was to analyze the latency and amplitude of auditory brain stem response (ABR) waveforms in patients with unilateral tinnitus. The tinnitus ears and non-tinnitus ears were compared for each patient. Sixty-seven patients with single-sided tinnitus were enrolled, including 26 male and 41 female patients with a mean age of 54.4 (age ranged from 22 to 79). Eighteen patients had bilateral normal hearing, while 49 patients had some degree of sensorineural hearing. The ABR waveforms were retrospectively analyzed in terms of waves I, III, and V absolute latency, as well as waves I-III, waves II-V, and waves I-V latency intervals, amplitude, and amplitude ratio (III/I, V/I). Statistical analyses were performed within patients. There was no significant ABR difference between the tinnitus and non-tinnitus ears with regard to all the wave latencies and amplitudes in our patients (all P values >0.1). Our result that ABR changes were not found between tinnitus and non-tinnitus ears implies that tinnitus does not simply originate from the defect of the peripheral auditory system. It conforms to the contemporary theory that a higher level of the brain is involved in the generation of tinnitus.