Sensorineural hearing impairment is a common pathological manifestation in patients affected by X-linked intellectual disability. A few cases of interstitial deletions at Xq21 with several different phenotypic characteristics have been described, but to date, a complete molecular characterization of the deletions harboring disease-causing genes is still missing. Thus, the aim of this study is to realize a detailed clinical and molecular analysis of a family affected by syndromic X-linked hearing loss with intellectual disability. Clinical analyses revealed a very complex phenotype that included inner ear malformations, vestibular problems, choroideremia and hypotonia with a peculiar pattern of phenotypic variability. Genomic analysis revealed, for the first time, the presence of two close interstitial deletions in the Xq21.1-21.3, harboring 11 protein coding, 9 non-coding genes and 19 pseudogenes. Among these, 3 protein coding genes have already been associated with X-linked hearing loss, intellectual disability and choroideremia. In this study we highlighted the presence of peculiar genotypic and phenotypic details in a family affected by syndromic X-linked hearing loss with intellectual disability. We identified two, previously unreported, Xq21.1-21.3 interstitial deletions. The two rearrangements, containing several genes, segregate with the clinical features, suggesting their role in the pathogenicity. However, not all the observed phenotypic features can be clearly associated with the known genes thus, further study is necessary to determine regions involved.

Background/Objectives: Bimodal stimulation (BS), which combines the use of a cochlear implant (CI) in one ear and a hearing aid (HA) in the opposite ear, is an established strategy to treat hearing loss by exploiting the unique capabilities of each device. CIs stimulate the auditory nerve by bypassing damaged hair cells, while HAs amplify sounds by requiring a functional hearing residual. The aim of this systematic review is to investigate the advantages and disadvantages of BS such as speech perception in noise. Methods: We examined clinical studies published from October 2020 to July 2024, following the PRISMA guidelines, focusing on the advantages and disadvantages of BS on speech perception in noise in adulthood. Results: BS in adult patients significantly improves speech perception in quiet and noisy environments, especially for those with increased residual hearing. Unilateral CIs and BS perform similarly in quiet conditions, but BS significantly improves speech discrimination in noisy environments if loudness between the two devices is appropriately balanced. Conclusions: Directional microphones and programming software are new technologies that succeed in reducing environmental noise and improving verbal perception outcomes, although their features in the literature are controversial. In addition, the individuals using BS may face temporal mismatches mainly due to differing device latencies, affecting sound localization. Compensating for these mismatches can enhance localization accuracy. However, modulated noise remains a significant obstacle to verbal perception in noise. Valuable assessment tools such as music tests provide further information on hearing performance and quality of life. More research is needed to define certain selection criteria.

Background: The aim of this study was to compare, in users of bimodal cochlear implants, the performance obtained using their own hearing aids (adjusted with the standard NAL-NL1 fitting formula) with the performance using the Phonak Naìda Link Ultra Power hearing aid adjusted with both NAL-NL1 and a new bimodal system (Adaptive Phonak Digital Bimodal (APDB)) developed by Advanced Bionics and Phonak Corporations. Methods: Eleven bimodal users (Naìda CI Q70 + contralateral hearing aid) were enrolled in our study. The users’ own hearing aids were replaced with the Phonak Naìda Link Ultra Power and fitted following the new formula. Speech intelligibility was assessed in quiet and noisy conditions, and comparisons were made with the results obtained with the users’ previous hearing aids and with the Naída Link hearing aids fitted with the NAL-NL1 generic prescription formula. Results: Using Phonak Naìda Link Ultra Power hearing aids with the Adaptive Phonak Digital Bimodal fitting formula, performance was significantly better than that with the users’ own rehabilitation systems, especially in challenging hearing situations for all analyzed subjects. Conclusions: Speech intelligibility tests in quiet settings did not reveal a significant difference in performance between the new fitting formula and NAL-NL1 fittings (using the Naída Link hearing aids), whereas the performance difference between the two fittings was very significant in noisy test conditions.

Background: Currently, the novel coronavirus (SARS-CoV-2) causes an acute respiratory illness named COVID-19 and is a controversial risk factor for hearing loss (HL). Herein, we aim to describe the associated symptoms and to evaluate hearing function in the COVID-19 pediatric population. Methods: A retrospective cross-sectional observational study was carried out on 37 children who contracted COVID-19 infection with no previous audio-vestibular disorders. Clinical data on the infections were collected, and an audiological assessment of all affected children was performed by using different diagnostic protocols according to their age. Results: Fever, upper respiratory and gastrointestinal manifestations were common presentations of infection. Audiological function was normal in 30 (81.08%) children, while 7 children showed an increased hearing threshold: 6 (16.21%) had transient conductive hearing loss (CHL) due to middle ear effusion and normalized at the follow-up and 1 had sensorineural hearing loss (SNHL). A single child was affected by bilateral SNHL (2.7%); however, he underwent a complete audiological work-up leading to a diagnosis of genetic HL due to a MYO6 gene mutation which is causative of progressive or late onset SNHL. Conclusions: HL needs to be considered among the manifestations of COVID-19 in children, nevertheless, we found cases of transient CHL. The onset of HL during or following COVID-19 infection does not eliminate the indication for maintaining audiological surveillance and audiological work-ups, including genetic diagnosis, to avoid the risk of mistaking other causes of HL.

A multi-center self-assessment survey was conducted to evaluate patient satisfaction with the Advanced Bionics Neptune™ waterproof sound processor used with the AquaMic™ totally submersible microphone. Subjective satisfaction with the different Neptune™ wearing options, comfort, ease of use, sound quality and use of the processor in a range of active and water related situations were assessed for 23 adults and 73 children, using an online and paper based questionnaire. Upgraded subjects compared their previous processor to the Neptune™. The Neptune™ was most popular for use in general sports and in the pool. Subjects were satisfied with the sound quality of the sound processor outside and under water and following submersion. Seventyeight percent of subjects rated waterproofness as being very useful and 83% of the newly implanted subjects selected waterproofness as one of the reasons why they chose the Neptune™ processor. Providing a waterproof sound processor is considered by cochlear implant recipients to be useful and important and is a factor in their processor choice. Subjects reported that they were satisfied with the Neptune™ sound quality, ease of use and different wearing options.