Introduction: Single-sided deafness (SSD) is defined as complete deafness in one ear while the other ear has normal hearing, up to mild hearing loss. Patients with SSD experience various hearing difficulties, including problems locating the source of a sound, its intensity, reduced spatial awareness, and difficulty understanding speech in noise. Cochlear implants remain the standard treatment, providing an effective way of restoring binaural function. Other methods include CROS hearing aids and bone conduction implants. This study evaluated the effectiveness of the Bonebridge bone conduction device for people with SSD who did not meet the criteria for cochlear implantation. Methods: The study included 52 patients aged between 8 and 58 years who were diagnosed with SSD and underwent Bonebridge implantation surgery. Prior to the procedure, the anatomical condition of the temporal bone was examined using computed tomography. To assess speech understanding in noise, three Matrix tests were performed: Before surgery, at processor activation, and 6 months later. Patients also completed the Abbreviated Profile of Hearing Aid Benefit (APHAB) questionnaire. Results: Implant surgery was successful in all cases, and postoperative healing proceeded without any major complications. As measured by the APHAB questionnaire, there were significant improvements in the Matrix test results and reductions in hearing difficulties. Some 73% of patients said they would choose a Bonebridge implantation again. Conclusions: The Bonebridge system is an effective and safe alternative to traditional hearing aids. It is particularly useful for understanding speech in noisy environments and is ideal for patients with SSD who do not meet the criteria for cochlear implantation.

Autosomal dominant hearing loss (ADHL) is a highly heterogeneous Mendelian disorder with numerous causative genes, yet large well-characterized European cohorts remain limited. We investigated 108 families of Polish origin with confirmed dominant inheritance using a tiered strategy integrating targeted sequencing of 237 hearing loss genes, genome-wide linkage analysis, genome sequencing, segregation studies in 437 individuals, and functional validation by minigene splicing assays. This approach established a molecular diagnosis in 52

BACKGROUND Mumps, a viral infection from the Paramyxoviridae family, is a rare but significant cause of sensorineural hearing loss (SNHL), especially in children. While typically unilateral, mumps-induced SNHL can result in profound single-sided deafness, for which cochlear implantation may be considered when hearing aids are ineffective. This study aimed to evaluate outcomes of cochlear implantation in patients with single-sided deafness caused by mumps. MATERIAL AND METHODS This retrospective study included 14 patients (10 women, 4 men; mean age 39.4) with single-sided deafness caused by mumps. Inclusion criteria included a hearing threshold ≥90 dB and no benefit from hearing aids. Audiometric evaluations and speech discrimination tests were conducted preoperatively and 12 months postoperatively. Surgical procedures followed the 6-step Skarżyński method with a round window approach. RESULTS Implants were successfully placed in all patients, with full electrode insertion achieved in 92.9% of cases. The mean time from hearing loss to implantation was 28.1 years. Postoperative speech discrimination improved significantly: from 0-10% preoperatively to 48.9% word-recognition score without and 66.8% word-recognition score with an active processor. Hearing preservation was achieved in 11 out of 12 evaluable patients, with partial preservation in 58% and minimal in 33%. CONCLUSIONS Cochlear implantation in patients with mumps-induced single-sided deafness provides substantial auditory benefits, particularly in speech perception. Favorable surgical outcomes were achieved even in cases with cochlear ossification. Given the scarcity of evidence specific to this etiology, the present findings underscore the effectiveness of cochlear implantation and warrant further validation through large-scale, prospective investigations.

Niedosłuch (HL) może mieć zarówno podłoże genetyczne, jak i środowiskowe. Genetycznie uwarunkowany HL może występować jako cecha izolowana lub stanowić jeden z objawów zespołu genetycznie uwarunkowanego. Badania genetyczne odgrywają ważną rolę w identyfikowaniu przyczyn izolowanego i syndromicznego HL. Pomimo że z HL izolowanym powiązano ponad 150 genów oraz znanych jest ponad 400 zespołów, których charakterystycznym objawem jest HL, w wielu przypadkach nie udaje się ustalić molekularnej przyczyny HL. Zjawisko to określane jest jako utracona dziedziczność. Istnieje kilka różnych wyjaśnień nierozwiązanych genetycznie przypadków HL, które omówione zostały w poniższym artykule. W ostatnich latach znacząco wzrosły możliwości diagnostyki genetycznej pacjentów, możliwa jest jednoczesna analiza wielu genów dzięki zastosowaniu testów wysokoprzepustowych, takich jak sekwencjonowanie następnej generacji (NGS). Szybki postęp technologiczny w diagnostyce genetycznej chorób rzadkich niesie za sobą ogromne wyzwania w analizie i interpretacji otrzymywanych wyników, dlatego istotną rolę odgrywają także badania funkcjonalne z użyciem modeli komórkowych i zwierzęcych, w tym myszy i dania pręgowanego (Danio rerio). Istnieje nieustanna potrzeba badań w kierunku pełnego zrozumienia mechanizmów molekularnych powstawania chorób rzadkich, w tym dziedzicznego HL, z zastosowaniem najnowszych rozwiązań bioinformatycznych wspierających precyzyjną diagnozę.

Introduction Auditory brainstem response (ABR) is a standard objective method for estimating hearing threshold, especially in patients who cannot reliably participate in behavioral audiometry. However, ABR interpretation is usually performed by an expert. This study evaluated whether two general-purpose artificial intelligence (AI) multimodal large language model (LLM) chatbots, ChatGPT and Qwen, can accurately estimate ABR hearing thresholds from ABR waveform images. The accuracy was measured by comparisons with the judgements of 3 expert audiologists. Methods A total of 500 images each containing several ABR waveforms recorded at different stimulus intensities were analyzed. Three expert audiologists established the reference auditory thresholds based on visual identification of wave V at the lowest stimulus intensity, with the most frequent judgment among the three used as the reference. Each waveform image was independently submitted to ChatGPT (version 5.1) and Qwen (version 3Max) using the same standardized prompt and without additional clinical context. Agreement with the expert thresholds was assessed as mean errors and correlations. Sensitivity and specificity for detecting hearing loss (>20 dB nHL) were also calculated. In cases where the AI and expert thresholds nominally matched, corresponding latency measures were also compared. Results Auditory thresholds derived from both LLMs correlated strongly with expert opinion, with Pearson r = 0.954 for ChatGPT and r = 0.958 for Qwen. ChatGPT showed a mean error of +5.5 dB and Qwen showed a mean error of −2.7 dB. Exact nominal agreement with expert values was achieved in 34.6% of ChatGPT estimates and 35.6% of Qwen estimates; agreement within ±10 dB was observed in 75.6% and 80.0% of cases, respectively. For hearing-loss classification, ChatGPT achieved 100% sensitivity but low specificity (20.4%), whereas Qwen showed a more balanced profile with 91.6% sensitivity and 67.5% specificity. Curiously, estimates of wave V latency were markedly poor for both LLMs, with systematic underestimation and weak correlations with the expert judgements. Conclusion ChatGPT and Qwen demonstrated a moderate ability to estimate ABR thresholds from waveform images, although their performance was not good enough for independent clinical use. Both models captured general patterns of hearing loss severity, but there was systematic bias, limited specificity and sensitivity balance, and poor latency estimation. General-purpose multimodal LLMs may have potential as assistive or preliminary tools, but clinically reliable ABR interpretation will likely require specialized, domain-trained AI systems with expert oversight.

Background: Congenital hearing loss occurs in about 2 of every 1000 newborns, of which half probably have a genetic origin. In syndromic patients, hearing impairment often results from craniofacial malformations affecting the outer and middle ear. Anatomical limitations such as microtia or external auditory canal atresia often preclude conventional air-conduction hearing aids, leaving bone-conduction devices as one viable option. However, surgical intervention in such patients is challenging. This study aimed to evaluate the audiological outcomes, safety, and effectiveness of the Bonebridge BCI 602 implant in 10 patients with genetic syndromes. Methods: The case series was made up of 10 patients aged 6-45 years, each diagnosed with a congenital syndrome affecting the external and/or middle ear. All cases involved surgical implantation of the Bonebridge system. Audiological outcomes were evaluated in free-field conditions on the day of sound processor activation and at 3-6 months follow-up via pure-tone and speech audiometry. Results: All surgical procedures were completed without serious adverse events, and the incidence of postoperative complications was low. Audiological outcomes showed clinically significant hearing improvement in all patients following Bonebridge implantation. Post-implantation hearing thresholds ranged from 25 to 40 dB HL, with notable gains in speech perception in both quiet and noisy environments. Conclusions: The Bonebridge implant appears to be a safe and effective option for auditory rehabilitation in patients with hearing loss associated with various genetic syndromes involving craniofacial malformation. However, this complex patient population requires individual assessment, interdisciplinary evaluation, and careful surgical planning.

Dokument przedstawia stanowisko Towarzystwa Otorynolaryngologów, Foniatrów i Audiologów Polskich (TOFAP) dotyczące procedur diagnostycznych i terapeutycznych w populacji pacjentów pediatrycznych z ośrodkowymi zaburzeniami przetwarzania słuchowego (CAPD). CAPD definiuje się jako trudności w przetwarzaniu informacji słuchowych na poziomie ośrodkowego układu nerwowego, przy prawidłowym funkcjonowaniu słuchu obwodowego. Zaburzenie wpływa na takie umiejętności jak: lokalizacja źródła dźwięku, różnicowanie bodźców słuchowych, rozpoznawanie wzorców dźwiękowych oraz przetwarzanie czasowe sygnałów akustycznych. Do najczęściej zgłaszanych objawów należą: trudności w rozumieniu mowy w hałasie, problemy z podążaniem za instrukcjami słownymi, mylenie wyrazów o podobnym brzmieniu, nadwrażliwość na bodźce dźwiękowe, rozpraszanie się oraz trudności w czytaniu i pisaniu. Proces diagnostyczny wymaga współpracy interdyscyplinarnego zespołu specjalistów i musi rozpocząć się od wykluczenia niedosłuchu obwodowego. Ocena CAPD obejmuje zastosowanie wielu kategorii testów analizujących różne procesy słuchowe, takich jak testy słuchania dychotycznego, testy rozpoznawania wzorców i analizy czasowej dźwięków oraz testy mowy utrudnionej. Zalecenia terapeutyczne opierają się na trzech filarach: trening słuchowy jako podstawowa forma rehabilitacji, modyfikacje środowiskowe (np. systemy FM, słuchawki wygłuszające), strategie kompensacyjne. Dodatkowe wsparcie edukacyjne może obejmować: indywidualną ścieżkę nauczania, zajęcia wyrównawczo-kompensacyjne oraz opiekę specjalistów (logopedy, psychologa, pedagoga) – w zależności od nasilenia objawów.

Background: Emerging evidence suggests that metabolic, nutritional, and lifestyle-related factors may be associated with tinnitus occurrence and symptom burden. Nutritional status, obesity, and sedentary behavior have been hypothesized to be linked with auditory function, neural excitability, and tinnitus-related outcomes. This scoping review aimed to map and summarize the available evidence on associations between dietary factors, nutrient intake, body mass index (BMI), obesity, physical activity, and tinnitus occurrence, severity, and related clinical outcomes. Methods: A scoping review was conducted in accordance with the PRISMA-ScR reporting guidelines. A comprehensive search of PubMed, Web of Science, and Cochrane Library databases was performed. Eligible designs included randomized controlled trials, cohort studies, case-control studies, and cross-sectional studies. Data were extracted and synthesized narratively due to methodological heterogeneity. Results: Twenty-four studies met the inclusion criteria. Several observational studies reported associations between protein intake, lipid profile, micronutrient status, BMI, obesity, physical activity, and tinnitus-related outcomes. Evidence on antioxidant supplementation was heterogeneous, with some trials reporting favorable changes in tinnitus-related measures and others showing no significant benefit compared with placebo. Elevated BMI, obesity, and altered body composition were generally associated with tinnitus occurrence or greater symptom severity. Randomized trials suggested that structured lifestyle programs involving dietary modification, weight reduction, and physical activity may be associated with improvements in tinnitus severity and quality of life in selected patient groups. Conclusions: The available literature suggests potential associations between nutritional, metabolic, and lifestyle-related factors and tinnitus occurrence or symptom severity. However, the evidence is heterogeneous and largely observational, with inconsistent adjustment for hearing loss, psychological distress, and general health status. Further well-designed prospective studies and randomized controlled trials are needed before causal or clinical recommendations can be formulated.

INTRODUCTION:When a unilateral cochlear implant (CI) is implanted in a bilaterally deaf person they may still experience, along with significant benefits, certain limitations. The use of a contralateral routing of signal (CROS) system, which transmits the signal from the deaf side to the side with the speech processor, creates an opportunity to reduce these limitations and improve hearing performance in difficult acoustic conditions. In this study, a wireless CROS solution from Advanced Bionics specifically designed for CI speech processors is investigated. METHODS:Speech-in-noise tests based on monosyllabic word tests were given to 15 CI users with CROS switched on and off. Three spatially different listening setups were used to probe three binaural effects (binaural redundancy, head shadow, and squelch), together with spatial release from masking. The mean age of users was 66.2 years (standard deviation = 10.6), and all participants had ≥9 months of experience with their CI. RESULTS:The speech-in-noise tests revealed improved speech intelligibility in some test conditions when using the CROS device compared to listening with just a unilateral CI. No spatial release from masking was observed. CONCLUSION:The investigated CROS system is a valuable addition to unilateral CI systems in cases where bilateral implantation is not an option.

Background: Emerging evidence suggests that metabolic and lifestyle factors may contribute to the onset and progression of tinnitus. Nutritional deficiencies, obesity, and sedentary behavior have been hypothesized to modulate auditory function and neural excitability. This scoping review aimed to map and summarize the available evidence on the associations between dietary factors, nutrient intake, body mass index (BMI), obesity, and physical activity with the risk, severity, and management of tinnitus. Methods: A scoping review was conducted following the PRISMA-ScR reporting guidelines. A comprehensive search of PubMed, Web of Science, and Cochrane Library databases was performed. Eligible designs included randomized controlled trials, cohort, case control, and cross-sectional studies. Data were extracted and synthesized narratively due to methodological heterogeneity. Results: Twenty-four studies met the inclusion criteria. Higher protein intake and favorable lipid profiles were associated with reduced tinnitus risk and severity. Micronutrient deficiencies, particularly vitamins B2, B3, D3, B12, zinc, and iron, were consistently associated with greater symptom burden. Evidence on antioxidant supplementation was inconclusive, with some trials reporting symptomatic improvement and others showing no effect. Elevated BMI and obesity were associated with both tinnitus onset and greater symptom severity. Importantly, randomized trials reported that structured weightloss and physical activity programs were associated with reduced tinnitus severity and improved quality of life. Conclusions: The available literature suggests potential associations between dietary patterns, micronutrient status, obesity, and physical activity with tinnitus risk and symptom severity. Although the current evidence is largely observational, some interventional studies indicate that lifestyle based approaches, including weight management and increased physical activity, may contribute to improvements in tinnitus related symptoms and quality of life.

OBJECTIVES:Sentio (Oticon Medical) is an active bone-conduction implant approved in 2024. This study evaluates initial clinical outcomes, safety, and audiological efficacy of the Sentio in patients with conductive or mixed hearing loss. METHODS:A total of 28 patients (10 conductive, 18 mixed hearing loss) were implanted with Sentio. Preoperative assessments included pure-tone audiometry and speech recognition testing in unaided and aided conditions. Postoperative evaluations of hearing thresholds and speech recognition were performed in free field. Subjective benefit was assessed using the APHAB questionnaire before and after implantation. The first follow-up occurred 1 month after activation. RESULTS:All surgeries were completed without complications. One patient required revision surgery, which was successful. No other adverse events occurred. Mean hearing threshold improved from 56.3 dB HL (unaided) and 31.7 dB HL with Ponto on a softband to 25.3 dB HL post-activation and remained stable at 1-month follow-up (p < 0.001). Speech discrimination was 11.9% preoperatively (unaided) and 85.5% with Ponto. It reached 87.3% at activation and 93.3% at the follow-up (p < 0.001). Speech perception in noise was +1.97 dB SNR before implantation (unaided) and 2.22 dB SNR (aided), -2.04 dB SNR at implant activation and -2.67 dB SNR at the follow-up (p < 0.001 for implant conditions vs. unaided). APHAB global score decreased from 53.2 points preoperatively to 32.6 points postoperatively (p < 0.001). CONCLUSION:Sentio implantation appears effective and safe for the rehabilitation of conductive or mixed hearing loss. The first clinical results demonstrate audiological improvement and subjective benefit, supporting the potential of the system as a reliable bone-conduction hearing solution. LEVEL OF EVIDENCE: 4:

Objectives:To assess the development of receptive and expressive language skills in children who had prelingual single-sided deafness (SSD). Materials and methods:Fifty children diagnosed with SSD at the Institute of Physiology and Pathology of Hearing in Warsaw/Kajetany, Poland were included in the study. Receptive and expressive language skills were examined using a norm-referenced test, the Child Speech Therapy Assessment Cards (CSTAC). Results:In the test of receptive language skills, 46% of children with SSD received low scores, while 48% recorded low scores in the test of expressive language skills. Among children with normal hearing, the expected percentage of low scores is 30.8% for both receptive and expressive skills. Children with SSD demonstrated a significantly higher proportion of low scores in both receptive (χ2 [2, n = 50] = 19.66; p < .001; V = 0.63) and expressive (χ2 [2, n = 50] = 22.64; p < 0.001; V = 0.67) language skills compared to their normal-hearing peers. Conclusions:The results showed that children with SSD are at risk of language delays. To minimise the potential consequences of such delays, appropriate early intervention - together with parental education, speech-language therapy, auditory training, and monitoring of language development - should be implemented.

BACKGROUND This report describes the surgical management and early auditory outcomes of bilateral cochlear implantation in a child with Galloway-Mowat syndrome (GAMOS). To the best of our knowledge, this is the first reported case of such surgery. GAMOS is an exceedingly rare genetic disorder characterized by microcephaly, early onset of steroid-resistant nephrotic syndrome, and brain anomalies. It is inherited in an autosomal recessive pattern and has a genetically heterogeneous basis. CASE REPORT We report the case of a young boy diagnosed with GAMOS who had profound bilateral deafness, cerebellar hypoplasia, hypotonia, epilepsy, and visual impairment likely due to optic nerve dysgenesis. Due to the deafness, he underwent bilateral cochlear implantation in 2 stages (at ages 2 and 3 years). No significant difficulties were encountered: appropriate surgical access was achieved despite partial bony overgrowth of the round window area, and soft electrodes were used to adapt to the dysplastic cochlear anatomy. Ethics committee approval was obtained and written informed parental consent was provided. Preliminary results at 6 months after the second implant were satisfactory. As a result of the cochlear implantation, the boy was able to perceive sounds and began using them to communicate with those around him. CONCLUSIONS Cochlear implantation can be a safe and effective solution for treating deafness in patients with GAMOS, at least in the short term, even if there are congenital defects such as cochlear dysplasia. Good surgical access and the use of soft electrodes are important in minimizing the risk of damage and maximizing auditory outcomes.

Objective. Chatbots powered by large language models (LLMs) have recently emerged as prominent sources of information. However, their ability to propagate misinformation as well as information, particularly in specialized fields like audiology and otolaryngology, remains underexplored. This study aimed to evaluate the accuracy of 6 popular chatbots-ChatGPT, Gemini, Claude, DeepSeek, Grok, and Mistral-in response to questions framed around a range of unproven methods in audiological and otolaryngological care. Study Design. Cross-sectional study. Setting. A set of 50 questions was developed based on common conversations between patients and clinicians. We then posed these questions to the chatbots. Methods. We tested each chatbot 10 times to account for variable responses, producing a total of 3000 responses. The responses were compared with correct answers based on the general opinion of 11 professionals. The consistency of the responses was evaluated by Cohen's Kappa. Results. Most chatbot responses to the majority of questions were deemed accurate. Grok consistently performed best, where its answers aligned perfectly with the opinions of the experts. Deepseek exhibited the lowest accuracy, scoring 95.8%. Mistral exhibited the lowest consistency, scoring 0.96. Conclusions. Although all the chatbots generally avoided endorsing unproven methods, some responses deviated from the expert consensus and could therefore be said to contribute to the spread of misinformation. The best performer among the group was Grok, which provided consistently accurate responses, showing it has the potential for clinical and educational use within audiology and otolaryngology.

Introduction: The electrically evoked stapedius reflex threshold (eSRT) is an objective measure that helps to fit cochlear implants (CIs). The primary aim of this study was to investigate the relationship between different burst durations to elicit eSRT in pediatric CI users. Materials and Methods: Different stimuli burst durations (100-500 ms) were applied to observe the effect in the reflex determination in 11 pediatric CI users. Reflexes were measured in electrode contacts #2, #6, #9, and #11. Testing was conducted at 9 months after CI activation. Results: Burst duration and electrode contact site both had a significant effect on eSRT (p < 0.001). The lowest eSRT thresholds were obtained with the longest burst duration. The highest stimulation level was required to elicit a reflex at basal electrode contacts. No significant effect was found for the interaction between electrode contact site and burst duration. Discussion: Burst durations of 100 ms yielded significantly larger eSRT thresholds than 300- and 500-ms burst durations. Thresholds obtained with the longest (i.e., traditional) burst durations reflected maximum comfortable loudness (MCL) levels typically found at early post-activation stages. In contrast, 100-ms burst yielded threshold levels similar to MCLs that have stabilized. We therefore consider both short (100 ms) and longer (300 or 500 ms) bursts useful in the clinical practice. Conclusion: The best burst duration to use depends on the interval: longer burst durations are useful for estimating MCLs for earlier intervals, whereas shorter burst durations are useful for later intervals. These findings may help clinicians optimize fittings in cases where using behavioral responses is problematic.

Diagnostyka ośrodkowych procesów przetwarzania słuchowego (CAPD) opiera się w znacznej mierze na testach psychoakustycznych oceniających poszczególne funkcje słuchowe. Stosowanie pełnej baterii testów w badaniach przesiewowych napotyka trudności, ponieważ procedura jest czasochłonna, a badanie przesiewowe ze swej natury powinno być efektywne czasowo i ekonomicznie. Celem badań była analiza wykonanych skróconych wersji testów do oceny przetwarzania słuchowego, które mogą być stosowane w badaniach przesiewowych słuchu u dzieci w wieku szkolnym. Grupa badana liczyła 510 dzieci (289 dziewczynek i 221 chłopców). Dzieci miały od 6 do 12 lat, średni wiek wynosił 8,92 lat (SD = 1,98). Przeprowadzono badanie audiometrią tonalną, dokonano analizy wyników ankiety audiologicznej oraz wykonano testy oceniające przetwarzanie słuchowe – frequency pattern test (FPT), duration pattern test (DPT) i dichotic digit test (DDT). Uzyskane wyniki testów FPT, DPT i DDT poddano analizie statystycznej w celu sprawdzenia, czy wyniki uzyskane w wersjach skróconych testów można uznać za równoważne wynikom osiąganych w wersjach pełnych. Wyniki uzyskane przez dzieci w wersji pełnej i w wersji skróconej wszystkich testów były bardzo zbliżone i prawidłowość ta była obserwowana w każdej grupie wiekowej. Różnice między wynikami osiąganymi w wersji pełnej i skróconej wśród wszystkich dzieci wynosiły średnio od 1 pp. dla FPT do 2,91 pp. dla DPT. Korelacje między wynikami osiąganymi w wersji pełnej i skróconej były pozytywne i bardzo silne: od 0,91 dla wyniku DDT w uchu prawym do 0,97 dla DDT. Skrócone wersje testów oceniających przetwarzanie słuchowe (FPT, DPT i DDT) pozwalają uzyskać wyniki bardzo zbliżone do wyników uzyskiwanych w wersjach pełnych. Testy w wersji skróconej mogą znaleźć zastosowanie w badaniach przesiewowych słuchu u dzieci w wieku szkolnym.

To determine the impact of various Cochlear Implant (CI) indications on outcomes assessed using the International Classification of Functioning, disability and health (ICF)-based CI outcome assessment (CI-ICF) protocol. Data from a multicenter longitudinal cohort study was analyzed. A consecutive sample of adult CI users (N = 72), including unilateral (n = 22), bilateral (n = 2), electric acoustic stimulation (EAS) (n = 6), single-sided deafness (SSD) (n = 6), and bimodal (n = 36) CI users, were enrolled based on clinical indications for cochlear implantation. Participants were assessed preoperatively and six months postoperatively using the CI-ICF protocol, which comprises patient-reported outcome measures (PROMs), pure tone and speech audiometry and localization tests. All CI indication groups showed benefits across most PROMs, pure tone and speech audiometry and localization. Differences were mainly observed in participants with SSD, who showed better baseline auditory abilities and less postoperative improvement compared to other groups for sound detection (PTA4) [e.g. PTA4 difference over time: SSD versus unilateral CI (p = 0.003)] and listening (HISQUI19) [e.g. HISQUI19 difference over time: SSD versus bimodal (p = 0.039)]. Participants with bimodal stimulation or SSD generally exhibited superior speech discrimination in noise abilities pre- and postoperatively, and demonstrated an equivalent amount of improvement for this category compared to EAS and unilateral CI users. Various CI indication groups experienced improvements following cochlear implantation, highlighting its broad efficacy. Personalized CI strategies are essential to maximize individual outcomes. These findings support the comprehensive and readily interpretable assessment framework provided by the CI-ICF protocol in evaluating CI outcomes. Clinicaltrials.gov (NCT04611555), retrospectively registered on 2-Nov-2020.

The GRHL2 gene, encoding the Grainyhead-like 2 transcription factor, is essential for various biological processes. While GRHL2 has a complex role in cancer biology, its genetic variants have been also implicated in different forms of hearing loss (HL), including autosomal dominant non-syndromic hearing loss (DFNA28). Here, we report a novel c.1061C>T, p.(Ala354Val) mutation within the DNA binding domain (DBD) of GRHL2 that was identified in a three-generation HL family using a targeted multi-gene panel covering 237 HL-related genes. Unlike the previously reported DFNA28-causing variants that result in protein truncation, the impact of the p.(Ala354Val) missense change cannot be attributed to GRHL2 transcript level or composition, but to an alteration in protein function. Molecular dynamics simulations revealed destabilization of the p.(Ala354Val) mutant GRHL2 dimer interface and an altered DNA binding dynamics, leading to chaotic interaction patterns despite increased binding affinity to DNA. Functional assays demonstrated that the p.(Ala354Val) mutation and other DFNA28-related mutations in the DBD lead to loss of GRHL2 transcriptional transactivation activity, while the p.(Arg537Profs*11) mutation in the dimerization domain results in a gain-of-function effect. The findings indicate that both GRHL2 haploinsufficiency and gain-of-function contribute to HL and underscore the complex regulatory role of GRHL2 in maintaining proper function of the auditory system. Our study emphasizes the need to consider structural and functional aspects of gene variants to better understand their pathogenic potential. As GRHL2 is involved in a multitude of cellular processes, the data gathered here can be also applicable to other conditions.

Background/Objectives: Congenital rubella syndrome (CRS) is an infection caused by rubella virus transmitted to the fetus during pregnancy, which can cause congenital hearing loss. Cochlear implant can be an effective therapy in patients with severe to profound bilateral hearing loss. The aim of this study was to evaluate the benefits of cochlear implantation in patients with profound hearing loss caused by congenital rubella syndrome. Methods: In total, 38 patients with profound hearing loss caused by intrauterine rubella virus infection were considered for cochlear implantation. Patients ranged in age from 8 to 72 years on the day of surgery, with a mean age of 27 years and median of 25 years (SD = 13.2). Preoperatively, all patients underwent pure-tone audiometry, and free-field speech audiometry was conducted in a quiet environment with the patient wearing a fitted hearing aid. Postoperatively, patients underwent pure-tone audiometry to assess residual hearing, and free-field speech audiometry was conducted when the patients had an active implant. Results: The average preoperative hearing threshold (averaged across the seven frequencies from 0.125 to 8 kHz) was 99.2 dB HL (SD = 6.79), while the average postoperative hearing threshold was 103.4 dB HL (SD = 5.74). Twelve months after the operation, patients achieved a WRS in quiet scores ranging from 10% to 90%, with an average of 59.1% and median of 70% (SD = 25.8). Conclusions: Rubella during pregnancy can lead to severe congenital defects, with sensorineural hearing loss being the most common. Cochlear implants appear to be an effective treatment for profound hearing loss caused by congenital rubella syndrome.

OBJECTIVES:To assess the hearing benefits of cochlear implantation and its daily usage in children with single-sided deafness (SSD). We compared the results of children with congenital/perinatal deafness and those with acquired deafness and evaluated the impact of age at implantation on performance. DESIGN:There were 99 children with SSD in the study, all of whom had more than 14 months of experience with a cochlear implant (CI); 58 had congenital/perinatal SSD, while 41 had acquired SSD. The hearing benefit of the CI was measured with age-appropriate speech discrimination in noise tests and localization tests. Daily processor usage was obtained from parent interviews and datalogging. RESULTS:For speech discrimination in noise, children with congenital/perinatal SSD demonstrated advantages of binaural redundancy and head shadow, while children with acquired SSD additionally benefited from the binaural squelch effect. Significant improvements in sound localization following a cochlear implantation were observed in both groups, with the benefit being slightly greater in the acquired SSD group. The mean daily processor usage was 10.3 h/day as reported by parents, compared with 7.5 h/day as recorded by datalogging, with no significant difference between the groups. There was no significant correlation between age at implantation and the benefits of head shadow, redundancy, and squelch, or in improvements in localization or daily processor usage. CONCLUSIONS:Cochlear implantation is an effective treatment for children with both congenital and acquired SSD.