Search Results (809)

Background/Objectives: This study aimed to investigate the optimal sound presentation level for sound localization testing to assess the effect of hearing interventions in individuals with unilateral conductive hearing loss (UCHL). Methods: Nine participants with normal hearing were tested, and simulated two-stage UCHL was created using earmuffs and earplugs. We created two types of masking conditions: (1) only an earplug inserted, and (2) an earplug inserted with an earmuff worn. A sound localization test was performed for each condition. The sound presentation levels were 40, 45, 50, 55, 60, 65, and 70 dB SPL, and the results were evaluated using root mean square and d-values. Results: Both values showed little difference in masking Condition 2, regardless of the sound presentation level, whereas in masking Condition 1, the values were at their minimum at 55 dB SPL. In addition, comparing the differences between masking Conditions 1 and 2 for each sound presentation level, the greatest difference was observed at 55 dB SPL for both values. Conclusions: The optimal sound presentation level for sound localization testing to assess hearing intervention effects in UCHL was 55 dB. This result may be attributed to the effect of input from the non-masked ear, accounting for interaural attenuation; the effect was considered minimal at 55 dB SPL. Full article

Background/Objectives: This study investigated the association between cochlear implant (CI) users’ assessed perception of musical sound quality and their subjective music perception and music-related quality of life (QoL). The aim was to provide a comprehensive evaluation by integrating a relatively objective Turkish Multiple Stimulus with Hidden Reference and Anchor (TR-MUSHRA) test and a subjective music questionnaire. Methods: Thirty CI users and thirty normal-hearing (NH) adults were assessed. Perception of sound quality was measured using the TR-MUSHRA test. Subjective assessments were conducted with the Music-Related Quality of Life Questionnaire (MuRQoL). Results: TR-MUSHRA results showed that while NH participants rated all filtered stimuli as perceptually different from the original, CI users provided similar ratings for stimuli with adjacent high-pass filter settings, indicating less differentiation in perceived sound quality. On the MuRQoL, groups differed on the Frequency subscale but not the Importance subscale. Critically, no significant correlation was found between the TR-MUSHRA scores and the MuRQoL subscale scores in either group. Conclusions: The findings demonstrate that TR-MUSHRA is an effective tool for assessing perceived sound quality relatively objectively, but there is no relationship between perceiving sound quality differences and measures of self-reported musical engagement and its importance. Subjective music experience may represent different domains beyond the perception of sound quality. Therefore, successful auditory rehabilitation requires personalized strategies that consider the multifaceted nature of music perception beyond simple perceptual judgments. Full article

Pathogenic variants in the MAP1B gene have been associated with neurological impairment, including intellectual disability, attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, brain malformations, cognitive hearing loss, short stature, and dysmorphic features. However, few cases with detailed clinical characterization have been reported. We describe a 12-year-old boy carrying a loss-of-function MAP1B variant, presenting with severe elimination disorders despite normal intelligence. He was referred to the genetics service due to persistent elimination issues, including daytime urinary incontinence, nocturnal enuresis, and fecal incontinence. He had normal motor and cognitive development, with an IQ of 99; however, he also presented with ADHD, short stature, microcephaly, and myopia. Brain MRI revealed bilaterial subependymal periventricular nodular heterotopia (PVNH). Audiometry showed normal bilateral hearing. Testing fragile X syndrome (FXS) and karyotype analyses yielded normal results. Whole exome sequencing (WES) revealed a nonsense pathogenic variant in MAP1B (c.895 C>T; p.Arg299*). No other family members showed a similar phenotype; however, a great-uncle and a great-aunt had a history of nocturnal enuresis until age 10. The patient’s deceased mother had short stature and psychiatric disorders, and a history of consanguinity was reported on the maternal side. This case broadens the phenotypic spectrum associated with MAP1B syndrome, suggesting that elimination disorder, frequently reported in FXS, should also be evaluated in MAP1B pathogenic variant carriers. In addition, the presence of short stature also appears to be part of the syndrome. Full article

Background/Objectives: Cochlear “injury” is thought to be a significant cause of tinnitus in patients with hearing loss. Interestingly, individuals with normal hearing may also experience tinnitus. This study evaluates otoacoustic distortion product emissions (DPOAEs) in individuals with normal hearing who experience tinnitus perception. Methods: In this prospective study, the tinnitus group (TG) consisted of 34 subjects with tinnitus (four unilaterally) and normal hearing (threshold ≤ 25 dBHL at 0.25–8 kHz). The control group (CG) comprised 10 healthy volunteers (20 ears) without tinnitus and normal hearing. Medical history was recorded, and all participants underwent a complete otolaryngological examination, pure tone audiometry, and DPOAE recording (DP-gram, L1 = 55 dB, L2 = 65 dB, for F2: 619–10,000 Hz). Moreover, participants in the TG completed a detailed tinnitus history (with self-rated loudness scoring) and the Tinnitus Handicap Inventory (Greek-version THI-G) and underwent tinnitus analysis. Results: The recorded mean DPOAE values during the DP-gram of the CG were significantly larger in amplitude at low (t-test, Bonferroni-corrected p < 0.09) and high frequencies (t-test, Bonferroni-corrected p < 0.02) compared with the TG. Tinnitus assessment showed tinnitus pitch matching at the frequency area in the DP-gram, where the acceptance recording criteria were not met. There were no statistically significant differences in tinnitus onset, self-rated loudness scores of >70, and severe disability (THI-G > 58) for TG subjects in whom DPOAEs were not recorded at frequencies of ≤1000 Hz. Participants with abnormal DPOAEs at around 4000 Hz had tinnitus of sudden onset and severe disability (THI-G > 58). Finally, those with pathological recordings of DPOAEs at ≥6000 Hz had gradual onset tinnitus (Pearson Chi-square test, p < 0.05). Conclusions: DPOAEs in normal hearing individuals with tinnitus show lower amplitudes in low and high frequencies compared with normal hearing individuals without tinnitus. The tinnitus matched-frequency coincided with the frequency area where DPOAEs were abnormal. Full article

Background: Hearing loss is increasingly prevalent and poses a significant public health concern. While both aging and occupational noise exposure are recognized contributors, their interactive effects and gender-specific patterns remain underexplored. Methods: This cross-sectional study analyzed data from 135,251 employees in Jiangsu Province, China. Demographic information, noise exposure metrics, and hearing thresholds were obtained through field measurements, questionnaires, and audiometric testing. Multivariate logistic regression, restricted cubic spline modeling, and interaction analyses were conducted. Machine learning models were employed to assess feature importance. Results: A nonlinear relationship between age and high-frequency hearing loss (HFHL) was identified, with a critical inflection point at 37.8 years. Noise exposure significantly amplified HFHL risk, particularly in older adults (OR = 2.564; 95% CI: 2.456–2.677, p < 0.001), with consistent findings across genders. Men exhibited greater susceptibility at high frequencies, even after adjusting for age and co-exposures. Aging and noise exposure have a joint association with hearing loss (OR = 2.564; 95% CI: 2.456–2.677, p < 0.001) and an interactive association (additive interaction: RERI = 2.075, AP = 0.502, SI = 2.967; multiplicative interaction: OR = 1.265; 95% CI: 1.176–1.36, p < 0.001). And machine learning also confirmed age, gender, and noise exposure as key predictors. Conclusions: Aging and occupational noise exert synergistic effects on auditory decline, with distinct gender disparities. These findings highlight the need for integrated, demographically tailored occupational health strategies. Machine learning approaches further validate key risk factors and support targeted screening for hearing loss prevention. Full article

Background: Sudden-onset bilateral mixed hearing loss in adults is an extremely rare condition but challenging to diagnose and treat. Conductive hearing loss is associated with otitis media, while the simultaneous presence of a sensorineural component requires supplementary investigation for possible shared pathophysiological mechanisms. Case Presentation: We report the case of a 41-year-old male who was admitted to our hospital with a 48 h history of bilateral, fast progressive hearing loss following a viral illness. The audiologic testing revealed bilateral severe mixed hearing loss. Tympanometry indicated the presence of middle-ear effusion, and myringotomy confirmed the existence of pressurized serous fluid. Treatment consisted of systemic and intratympanic corticosteroids, antibiotics, and supportive therapy. The patient had an unexpected full recovery of auditory function within one month. Discussion: Multiple hypotheses were considered. We hypothesized the coexistence of unrelated conductive and sensorineural hearing loss or a unifying pathological process. Theories discussed include a direct viral insult to the cochlear structures or even pressure-mediated damage to the basal cochlea due to the simultaneous inward displacement of the oval and round windows. The complete resolution of hearing loss is the indicator of a reversible etiology, possibly due to transient inner ear dysfunction secondary to middle-ear pathology or viral infection. Conclusions: This case illustrates the complexity of diagnosing acute mixed hearing loss. This report emphasizes a rare case of sudden-onset bilateral mixed hearing loss with a complete recovery, contributing valuable insight into under-reported and diagnostically complex presentations. Full article

Background: Riboflavin transporter deficiency type 2 is an ultra-rare, yet treatable, inborn error of metabolism. This autosomal recessive disorder is caused by pathogenic mutations in the SLC52A2 gene leading to progressive ataxia, polyneuropathy, and hearing and visual impairment. The early initiation of riboflavin therapy can prevent or mitigate the complications. To date, only 200 cases have been reported, mostly in consanguineous populations. The p.Gly306Arg founder mutation, identified in patients of Lebanese descent, is the most frequently reported worldwide. It was described in a homozygous state in a total of 21 patients. Therefore, studies characterizing the phenotypic spectrum of this mutation remain scarce. Methods: A retrospective review of charts of patients diagnosed with riboflavin transporter deficiency type 2 at a tertiary-care reference center in Lebanon was performed. Clinical, biochemical, and molecular profiles were analyzed and compared to reported cases in the literature. Results: A total of six patients from three unrelated families were diagnosed between 2018 and 2023. All patients exhibited the homozygous founder mutation, p.Gly306Arg, with variable phenotypes, even among family members. The median age of onset was 3 years. Diagnosis was achieved by exome sequencing at a median age of 5 years, as clinical and biochemical profiles were inconsistently suggestive. The response to riboflavin was variable. One patient treated with high-dose riboflavin recovered his motor function, while the others were stabilized. Conclusions: This study expands the current knowledge of the phenotypic spectrum associated with the p.Gly306Arg mutation in the SLC52A2 gene. Increased awareness among physicians of the common manifestations of this rare disorder is crucial for early diagnosis and treatment. In the absence of a consistent clinical or biochemical phenotype, the use of next-generation sequencing as a first-tier diagnostic test may be considered. Full article

The assessment of hearing in children is important, as hearing deficits can impair child development. The Auditory Steady-State Response (ASSR) is an electrophysiological technique that is able to simultaneously evaluate both ears at four frequencies, making it advantageous for testing children where the test time needs to be as short as possible. The objective of this work was to perform a literature review on the effectiveness of ASSR to gauge hearing thresholds in babies, infants, and children, examining its ability to distinguish mild hearing loss from normal cases. This review used PubMed, Web of Science, and Scopus databases from 2014 to 2024. A total of 1226 articles were identified, although only 16 met the previously established inclusion criteria. It was found that ASSR is a reliable diagnostic tool for babies, infants, and children. Recent work appears better able to distinguish mild hearing loss from normal hearing. One unresolved aspect that needs additional attention is the effectiveness of using bone-conducted stimuli. Full article

Background/Objectives: Unilateral hearing loss (UHL), particularly single-sided deafness (SSD), disrupts spatial hearing in children, leading to academic and social challenges. This study aimed to (1) compare azimuthal sound-localization accuracy and compensatory strategies between children with single-sided deafness (SSD) and their normal-hearing (NH) peers within a virtual reality environment, and (2) investigate sound-localization performance across various azimuths by contrasting left-SSD (L-SSD) and right-SSD (R-SSD) groups. Methods: A cohort of 44 participants (20 NH, 24 SSD) performed sound localization tasks in a 3D virtual environment. Unsigned azimuth error (UAE), unsigned elevation error (UEE), and head movement distance were analyzed across six azimuthal angles (−75° to 75°) at 0°elevation. Non-parametric statistics (Mann–Whitney U tests, Holm–Bonferroni correction) compared performance between NH and SSD groups and within SSD subgroups (L-SSD vs. R-SSD). Results: The SSD group exhibited significantly higher UAE (mean: 22.4° vs. 3.69°, p < 0.0001), UEE (mean: 5.95° vs. 3.77°, p < 0.0001) and head movement distance (mean: 0.35° vs. 0.12°, p < 0.0001) compared with NH peers, indicating persistent localization deficits and compensatory effort. Within the SSD group, elevation performance was superior to azimuthal accuracy (mean UEE: 3.77° vs. mean UAE: 22.4°). Participants with R-SSD exhibited greater azimuthal errors at rightward angles (45°and 75°) and at −15°, as well as increased elevation errors at 75°. Hemifield-specific advantages were strongest at extreme lateral angles (75°). Conclusions: Children with SSD rely on insufficient compensatory head movements to resolve monaural spatial ambiguity in order to localize sounds. Localization deficits and the effort associated with localization task call for action in addressing these issues in dynamic environments such as the classroom. L-SSD subjects outperformed R-SSD peers, highlighting hemispheric specialization in spatial hearing and the need to study its neural basis to develop targeted rehabilitation and classroom support. The hemifield advantages described in this study call for further data collection and research on the topic. Full article

Background/Objectives: This study aimed to (i) cross-culturally adapt the Inventory of Hyperacusis (IHS) into Danish and (ii) assess its usability, validity, and reliability in Danish adults with hyperacusis. Methods: The translation followed established guidelines for adapting hearing-related questionnaires. A two-phase design ensured linguistic and cultural adaptation and evaluated test–retest reliability and construct validity. The IHS, consisting of 25 items, was translated and tested in seven participants through cognitive debriefing. In phase two, temporal consistency was assessed in 32 patients. Results: Thirty-two participants (twenty-eight female; mean age 49.8 years) completed the study over 2–4 weeks (mean 22 days). Eight used hearing aids, and twenty-four reported tinnitus. The Danish IHS showed good reliability (Cronbach’s alpha = 0.95) and acceptable test–retest reliability, except for the General Loudness factor. While no systematic score changes occurred, significant variability in score changes were noted. Conclusions: The Danish IHS appears to be a reliable and valid tool for assessing hyperacusis. Further research is needed, but the IHS-DK shows potential as an effective clinical and research tool for evaluating hyperacusis impact and treatment outcomes. Full article

Implementing neonatal hearing screening has significantly reduced the age at which hearing impairments are detected in children. Nevertheless, objective electrophysiological assessments, such as auditory brainstem response (ABR) or auditory steady-state response (ASSR) testing, are often necessary for children older than six months. These evaluations should be conducted while the child is asleep to obtain accurate and interpretable results, as movement and muscle activity can introduce artifacts that compromise the quality of the recordings. In this narrative review, we evaluate sedation strategies in paediatric procedures, focusing on the efficacy, safety, and practicality of agents/routes for inducing sleep during ABR/ASSR testing. Sedation choices should prioritise patient safety, clinical context, and result reliability and be tailored to the individual’s age, health status, and procedural needs. Full article

Waardenburg syndrome (WS) is a rare genetic disorder that affects both hearing and pigmentation. The wide divergence of WS poses significant diagnostic and management challenges. This study investigated type 4 WS within an underrepresented Mongolian population. Whole-exome sequencing revealed that two unique heterozygous variants were identified in the SOX10 gene: c.393C>G (p.Asn131Lys) in a five-year-old female patient presenting with profound sensorineural hearing loss (SNHL), dystopia canthorum, and a white forelock; and c.535A>T (p.Lys179Ter) in a nine-year-old male patient presenting with profound SNHL, dystopia canthorum, and Hirschsprung’s disease. Temporal bone imaging revealed abnormalities in the inner ear structure in both patients. The genotypic and phenotypic characteristics were meticulously delineated, incorporating the deleterious effects of these variants, as evaluated by multiple predictive tools and the American College of Medical Genetics and Genomics (ACMG) criteria. In addition, structural characterizations were also presented using AlphaFold. The findings of this study contribute valuable genetic data to the limited literature on type 4 WS within this ethnic group and highlight the importance of genetic testing and multidisciplinary care for this rare disorder in settings with limited resources. Full article

Background: Syndromic inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, involving the retina and additional organs. Over 80 forms of syndromic IRD have been described. Methods: We aimed to phenotypically and genotypically characterize a cohort of 171 individuals from 140 Israeli families with syndromic IRD. Ophthalmic examination included best corrected visual acuity, fundus examination, visual field testing, retinal imaging and electrophysiological evaluation. Most participants were also evaluated by specialists in fields relevant to their extra-retinal symptoms. Genetic analyses included haplotype analysis, homozygosity mapping, Sanger sequencing and next-generation sequencing. Results: In total, 51% of the families in the cohort were consanguineous. The largest ethnic group was Muslim Arabs. The most common phenotype was Usher syndrome (USH). The most common causative gene was USH2A. In 29% of the families, genetic analysis led to a revised or modified clinical diagnosis. This included confirmation of an atypical USH diagnosis for individuals with late-onset retinitis pigmentosa (RP) and/or hearing loss (HL); diagnosis of Heimler syndrome in individuals with biallelic pathogenic variants in PEX6 and an original diagnosis of USH or nonsyndromic RP; and diagnosis of a mild form of Leber congenital amaurosis with early-onset deafness (LCAEOD) in an individual with a heterozygous pathogenic variant in TUBB4B and an original diagnosis of USH. Novel genotype–phenotype correlations included biallelic pathogenic variants in KATNIP, previously associated with Joubert syndrome (JBTS), in an individual who presented with kidney disease and IRD, but no other features of JBTS. Conclusions: Syndromic IRDs are a highly heterogeneous group of disorders. The rarity of some of these syndromes on one hand, and the co-occurrence of several syndromic and nonsyndromic conditions in some individuals, on the other hand, complicates the diagnostic process. Genetic analysis is the ultimate way to obtain an accurate clinical diagnosis in these individuals. Full article

Introduction: This study aimed to compare different scoring methods, such as phoneme, syllable, and word-based scoring, during word recognition in noise testing and their interaction with hearing loss severity. These scoring methods provided a structured framework for refining clinical audiological diagnosis by revealing underlying auditory processing at multiple linguistic levels. We highlight how scoring differences inform differential diagnosis and guide targeted audiological interventions. Methods: Pure tone audiometry and word-in-noise testing were conducted on 100 subjects with a wide range of hearing loss severity. Speech recognition was scored using phoneme, syllable, and word-based methods. All procedures were designed to reflect standard diagnostic protocols in clinical audiology. Discriminant function analysis examined how these scoring methods differentiate the degree of hearing loss. Results: Results showed that each method provides unique information about auditory processing. Phoneme-based scoring has pointed out basic auditory discrimination; syllable-based scoring can capture temporal and phonological processing, while word-based scoring reflects real-world listening conditions by incorporating contextual knowledge. These findings emphasize the diagnostic value of each scoring approach in clinical settings, aiding differential diagnosis and treatment planning. Conclusions: This study showed the effect of different scoring methods on hearing loss differentiation concerning severity. We recommend the integration of phoneme-based scoring into standard diagnostic batteries to enhance early detection and personalize rehabilitation strategies. Future research must involve studies about integration with other speech perception tests and applicability across different clinical settings. Full article

Background: Comprehensive geriatric assessments (CGAs) are necessary to address the needs of people with human immunodeficiency virus infection (PWH) aged ≥ 50 years and ensure that they receive high-quality care. We aimed to identify the most effective tests from an extensive CGA to develop a short CGA. Methods: This observational, cross-sectional, and analytical study was conducted in three phases: (1) describing PWH aged ≥ 50 and matched controls; (2) jointly analyzing data to identify the most effective tests from the original CGA and develop a short version; and (3) applying the short CGA separately to both groups. Results: The most effective tests—the Lawton scale, SPPB, Barber questionnaire, Pittsburgh Sleep Quality Index, and Cognitive Complaints questionnaire—were used to create a short CGA. It identified abnormalities in 77% of PWH flagged by the full CGA, though 65% with the normal short CGA results had at least one abnormal result in the full version. Most false negatives were due to the excluded Hearing-Dependent Activities scale. Conclusions: These findings represent an initial step toward developing a short CGA for an easy and rapid identification of PWH aged ≥ 50, beyond a frailty assessment, who may benefit from early clinical management. Full article