Search Results (106)

Universal newborn hearing screening (UNHS) has become widely adopted worldwide as a standard of care for the early detection of congenital hearing loss. The Egyptian UNHS program started as a presidential initiative by the Ministry of Health in November 2019. The program was initiated in 1346 primary health care units (PHCUs) located throughout the 26 governorates. A retrospective study was conducted to assess the performance of the Egyptian Program during the period from November 2019 to July 2023. Quality measures recommended by the Joint Committee on Infant Hearing including coverage rate, rate of referral to a second screening, follow up rate of attendance of second screening, referral for diagnosis rate, and follow up rate of attendance of diagnostic assessment, were analyzed. Over a period of 3 years and 9 months, more than five and half million infants underwent a first screening. The coverage rate was initially 39% and increased to reach 82% in 2023. The rate of referral to a second screen was 7.2% in 2019 and reached 5.2% in 2023. The follow-up rate of attendance of a second screening improved throughout the study period, from 75.5% to 92.1% but did not reach the benchmark of 95%. The rate of referrals for diagnosis was less than 1.7% and rate of attendance of a diagnostic assessment was initially 20% and improved to more than 65% in 2023. The very low rate of attendance of diagnostic assessment in 2020 and 2021 was attributed to the effects of the COVID pandemic. Full article

Background/Objectives: The etiology of dementia is complex and multifactorial, with both genetic and environmental factors contributing to its onset. The Lancet Commission has identified several risk factors for this condition, but it is increasingly urgent to confirm their etiological role while accounting for both measured and unmeasured confounding effects. Our study, conducted on a population-based sample of Italian twins, examines the link between known risk factors and cognitive impairment, and the contribution of genetic and environmental influences to this link. Methods: Study participants were adult twins from the Italian Twin Registry who completed self-administered questionnaires. Cognitive impairment was evaluated by the SAGE questionnaire, while risk factors were assessed using the checklist proposed by the Lancet Commission. Individual-level and matched-pair analyses were performed for each risk factor, and their results were compared to detect potential genetic or environmental confounding, and to infer “quasi-causality” in the examined associations. Results: A total of 483 twins participated in the study (mean age 69.14 years, 63% women, 47% monozygotic twins). In matched-pair analyses, the association between hearing loss and cognitive impairment decreased in magnitude and became non-significant, suggesting confounding by genetics or early-life environment; in contrast, the association with sleep disturbances resulted strong and significant in both individual-level and matched-pair analyses, indicating a genuine effect of sleep on cognition. Conclusions: Our findings suggest a potential “quasi-causal” role of sleep disorders in cognitive decline. This relationship should be clarified through well-powered longitudinal studies incorporating precise clinical definitions and biomarker data. Full article

Background: Recreational noise exposure from personal listening devices (PLDs) may lead to hidden hearing loss (HHL), affecting auditory nerve function despite normal pure-tone audiometry (PTA) and otoacoustic emissions (OAE). Subclinical auditory damage at the synaptic level often goes undetected by conventional assessments, emphasizing the need for more sensitive measures. Recorded click ABR in the presence of various levels of ipsilateral maskers for the better identification of auditory damage at the synaptic level. These results could help to develop a better objective diagnostic tool that can detect hidden hearing loss. Objective: To examine the effects of PLD usage on extended high-frequency audiometric thresholds and on click-evoked auditory brainstem responses (ABR) with and without ipsilateral masking in individuals with normal hearing. Materials and Methods: Thirty-five young adults aged 18–35 years (18 PLD users, 17 controls) with clinically normal hearing were recruited. Extended high-frequency audiometry (EHFA) was conducted from 9 to 16 kHz. Click-evoked ABRs were recorded at 80 dB nHL under unmasked and ipsilateral broadband noise-masked conditions at 50, 60, and 70 dB SPL. ABR analyses included absolute and relative amplitude (V/I) and latencies of waves I, III, and V. Results: PLD users demonstrated significantly elevated extended high-frequency thresholds compared to controls. ABR analyses revealed reduced Wave I amplitudes across stimulus conditions in PLD users, while Wave V amplitudes were largely preserved, resulting in consistently higher V/I amplitude ratios under masked conditions. No group differences were observed for Wave III amplitudes or absolute/interpeak latencies, except for a modest prolongation of I–III latency at one masker level in PLD users. Conclusions: Conventional audiological tests may not detect early auditory damage; however, extended high-frequency audiometry and ABR with ipsilateral masking demonstrate greater sensitivity in identifying noise-induced functional changes within the auditory brainstem pathways. Full article

The cochlea is susceptible to damage from ototoxic agents such as cisplatin, yet the mechanisms underlying cochlear injury remain incompletely understood. Mast cells (MCs), key immune players in allergic and inflammatory responses, have recently been identified in the rodent cochlea and implicated in cisplatin-induced ototoxicity. Our study investigated the role of MC degranulation in cochlear damage and evaluated the activation capacity of cochlear-resident MCs. Bone marrow-derived MCs (BMMCs) were cultured and induced to degranulate via IgE-anti-DNP/DNP stimulation, and the supernatants were applied to cochlear explants. Cochlear explants were also treated with Compound 48/80 (CP48/80) or cisplatin to assess MC activation. Morphological changes were assessed and hair cells (HC) quantified via phalloidin staining, while ELISA measured mediator release. Supernatants from degranulated BMMC induced a dose-dependent HC loss and tissue damage. A significant chymase and tryptase release was triggered by CP48/80 from cochlear MCs, with chymase elevation detected even at low concentrations. Cochlear MCs were rapidly activated by cisplatin exposure, elevating chymase and histamine levels, and the effects were attenuated by the MC stabilizer sodium cromolyn. Notably, tryptase remained undetectable post-cisplatin treatment, suggesting tissue-specific MC responses. These findings establish MC degranulation as an early event in cisplatin-induced cochlear injury, mediated by chymase and histamine. Our study highlights MCs as potential therapeutic targets for mitigating ototoxicity and underscores the need to explore MC-driven pathways in hearing loss. Full article

Congenital cytomegalovirus (CMV) is a major cause of neonatal morbidity, particularly sensorineural hearing loss, yet its early detection remains challenging. While urinary PCR is the current diagnostic gold standard, its implementation in neonatal settings is often limited by feasibility issues. Salivary PCR presents a more practical alternative, but its diagnostic accuracy has remained uncertain. This systematic review and meta-analysis aimed to evaluate the performance of salivary PCR compared to urinary PCR in detecting congenital CMV in neonates. Following PRISMA guidelines, 15 observational studies involving 29,617 neonates were analyzed using a random-effects model. Pooled sensitivity and specificity were 0.99 and 1.00, respectively, with a negative predictive value (NPV) of 1.00 and a positive predictive value (PPV) of 0.91, despite moderate heterogeneity. Subgroup analysis showed high diagnostic performance across general neonates, infants of seropositive mothers and high-risk neonates (referring to neonates that are small for their gestational age (SGA), neonates who failed hearing screening, and neonates with CMV-related congenital abnormalities). The general group had the highest specificity (0.999), while high-risk neonates showed the highest sensitivity (0.981). Across all groups, NPV remained consistently above 0.994, with PPV ranging from 0.848 to 0.981. These findings confirm that salivary PCR is a highly accurate and feasible tool for congenital CMV diagnosis. Full article

Background/Objectives: Temperament is an innate personality trait, influenced by genetic, biological, and environmental factors. Hearing loss, particularly during the critical period of auditory development, can influence cognitive and temperamental development. This study aims to assess the impact of hearing loss on temperamental development in infants aged between 1 and 12 months. Methods: A cross-sectional study of a sample of 132 pediatric patients from the infant hearing screening program was conducted from June 2023 to June 2024. The infants were divided into two groups based on hearing status and the presence of risk factors; cognitive and temperamental parameters were assessed using the QUIT questionnaire. Results: No significant differences were found between infants with and without hearing loss when also considering the infants without risk factors. Normal temperament was found in infants with and without hearing loss, considering both risk and non-risk factors. Finally, no relationship between hearing loss degree and temperament type, considering both the absence and presence of risk factors, was observed. Conclusions: In the early months of an infant’s life, hearing loss does not appear to significantly affect temperamental development. Only through the monitoring of these hearing-impaired infants to detect more severe hearing loss and/or in the presence of other risk factors can deviant development be hypothesized. In this regard, multidisciplinary evaluations may be crucial for the early detection and correction of dysfunctional behaviors. Full article

Recreational noise-induced hearing loss (RNIHL) is a significant factor contributing to hearing loss in young people. Its process is irreversible, and early symptoms are hidden. Therefore, early identification is of great significance. Otoacoustic emissions (OAEs) are commonly used to detect the function of outer hair cells. It is widely used for early diagnosis of occupational noise-induced hearing loss, but it remains underutilized in RNIHL detection. In order to explore the characteristics of RNIHL and the early detection value of different types of OAEs, this study reviewed the detection results of OAEs in previous studies on noise-induced hearing loss and analyzed the differences and causes among the studies. The study found that, through the detection of distortion product otoacoustic emissions (DPOAEs), there were differences in the sensitive frequency bands of outer hair cell damage between recreational noise and occupational noise, particularly in the high-frequency region. Transient-evoked otoacoustic emissions (TEOAEs) can fully reflect the damage to cochlear outer hair cells caused by RNIHL. This study indicates that OAEs, particularly TEOAEs, can serve as a highly sensitive and objective detection tool for RNIHL, whereas DPOAEs are more appropriate for the early screening of occupational noise-induced hearing loss. Full article

Background: Autism Spectrum Disorder (ASD) encompasses a range of neurodevelopmental conditions characterized by impairments in social communication, restricted and repetitive behaviors, and sensory sensitivities. Despite increased awareness, timely diagnosis in Türkiye remains limited due to the lack of culturally appropriate, psychometrically robust assessment tools. Objective: This study aimed to develop, validate, and standardize the Autism Behavior Assessment Scale (ABAS) as a reliable and culturally adapted tool for assessing ASD-related behaviors in individuals aged 3–24 years in Türkiye. Methods: Employing a three-phase, nine-step scale development framework, data were gathered from 1275 informants (parents and professionals) across 14 provinces. The ABAS comprises 36 items rated on a three-point Likert scale, spanning four subscales: Restricted Repetitive Behaviors & Sensory Sensitivity (RRBSS), Social Interaction (SI), Social Communication (SC), and Non-Developmental Speech (NDS). Psychometric analyses included exploratory and confirmatory factor analysis, reliability testing, and validation against established instruments. Results: The four-factor structure was confirmed via EFA and CFA with excellent model fit. The ABAS demonstrated strong internal consistency (α = 0.91–0.96), test–retest reliability (r = 0.83), and criterion validity (r = 0.93 with GARS-2-TV; r = 0.84 with U-ODKL). Discriminant validity analyses showed that the ABAS accurately differentiated individuals with ASD from individuals with intellectual disabilities (ID) and individuals with hearing impairments (AUC = 0.99). Conclusions: The ABAS is a psychometrically sound, developmentally sensitive, and culturally grounded instrument for identifying and monitoring ASD-related behaviors in Türkiye. It holds promise for improving early detection and guiding educational and clinical interventions. Full article

Background/Objectives: Cochlear implants (CIs) and hearing aids (HAs) have enhanced auditory rehabilitation in elderly individuals, yet limitations in musical perception and psychosocial integration persist. This systematic review aimed to evaluate the effects of music therapy (MT) on the quality of life (QoL), self-esteem, auditory perception, and cognition in older CI and HA users. Methods: A comprehensive search of PubMed was conducted up to March 2022 following PRISMA guidelines. Studies involving participants aged ≥ 60 years with CIs and/or HAs were included. Ten studies (n = 21,632) met eligibility criteria. Data were extracted and assessed using the Newcastle–Ottawa Scale. Results: MT led to improved sound quality, with HISQUI19 scores rising from 60.0 ± 21.8 to 74.2 ± 27.5. Early MT exposure was associated with significantly better MUMU outcomes (p = 0.02). Bilateral CI users showed enhanced stereo detection (52% to 86%), and CI + HA users achieved CNC scores exceeding 95%. Postlingual CI users outperformed prelingual peers in musical discrimination (9.81 vs. 3.48; p < 0.001). Long-term HA use was linked to better a QoL and reduced loneliness. Conclusions: While music therapy appears to support auditory and psychosocial functioning in hearing-impaired older adults, the absence of randomized controlled trials limits causal inference regarding its effects. These results support its integration into hearing rehabilitation strategies for older adults. Full article

Background: Childhood hearing loss is a public health problem of critical importance associated with speech development, academic achievement, and quality of life. Parents’ awareness and knowledge about risk factors contribute to early detection and timely intervention.  Objective: This study aims to examine Jordanian mothers’ knowledge of childhood hearing loss risk factors and investigate the impact of education level and socioeconomic status (SES) on the accuracy and comprehensiveness of this knowledge with the moderating effect of health literacy. Material and Methods: The approach employed an embedded mixed-methods design with a dominant quantitative strand supported by qualitative data, utilizing quantitative surveys (n = 250), analyzed using structural equation modeling (SEM) in SmartPLS, and qualitative interviews (n = 10), analyzed thematically to expand upon the quantitative findings by exploring barriers to awareness and healthcare-seeking behaviors. Results: The accuracy and comprehensiveness of knowledge of hearing loss risk factors were also positively influenced by maternal knowledge of hearing loss risk factors. Maternal knowledge was significantly associated with both education level and socioeconomic status (SES). Furthermore, maternal knowledge and accuracy were significantly moderated by health literacy, such that mothers with higher health literacy exhibited a stronger relationship between knowledge and accuracy. Qualitative findings revealed that individuals encountered barriers to accessing reliable information and comprehending medical advice and faced financial difficulties due to limited options for healthcare services. Conclusions: These results underscore the need for maternal education programs that address specific issues, provide simplified healthcare communication, and enhance access to pediatric audiology services. Future research should explore longitudinal assessments and intervention-based strategies to enhance mothers’ awareness and detect early childhood hearing loss. Full article

Usher syndrome, a rare genetic disorder causing both hearing and vision loss, presents significant diagnostic and therapeutic challenges due to its complex genetic basis. The identification of reliable biomarkers for early detection and intervention is crucial for improving patient outcomes. In this study, we present a machine learning-based hybrid sequential feature selection approach to identify key mRNA biomarkers associated with Usher syndrome. Beginning with a dataset of 42,334 mRNA features, our approach successfully reduced dimensionality and identified 58 top mRNA biomarkers that distinguish Usher syndrome from control samples. We employed a combination of feature selection techniques, including variance thresholding, recursive feature elimination, and Lasso regression, integrated within a nested cross-validation framework. The selected biomarkers were further validated using multiple machine learning models, including Logistic Regression, Random Forest, and Support Vector Machines, demonstrating robust classification performance. To assess the biological relevance of the computationally identified mRNA biomarkers, we experimentally validated candidates from the top 10 selected mRNAs using droplet digital PCR (ddPCR). The ddPCR results were consistent with expression patterns observed in the integrated transcriptomic metadata, reinforcing the credibility of our machine learning-driven biomarker discovery framework. Our findings highlight the potential of machine learning-driven biomarker discovery to enhance the detection of Usher syndrome. 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/Objectives: Electrocochleography (ECochG) is a promising tool to monitor preservation of cochlear structures and function during cochlear implant (CI) surgery. However, the interpretation of ECochG signal changes during insertion of the CI electrode array remains controversial. This study investigates the influence of the degree and localization of cochlear trauma on ECochG signal changes using a mouse model. Methods: C57BL/6J-Crl1 mice underwent intracochlear ECochG recordings during the insertion of a platinum–iridium electrode. Results: In case of grade 1 and 2 cochlear trauma, as determined by post-mortem histological analysis, we found that a reduction in intracochlear cochlear microphonic (CM) amplitude correlates more significantly with the location of the trauma than with its severity. The more basally a trauma is located, the larger the CM amplitude drop. Furthermore, the results revealed that grade 1 or 2 trauma was detectable through ECochG before more severe trauma developed. Conclusions: These findings suggest that intracochlear ECochG can serve as a reliable intraoperative tool for detecting early and possibly reversible cochlear trauma, preventing more severe damage and aiding hearing preservation. The results emphasize the need for a nuanced interpretation of CM signal drops, considering trauma location and cochlear structure integrity at the site of trauma and apical to it. Full article

Globally, many countries have promulgated extensive, contextually relevant disability legislative policies for children with hearing impairment/d/Deafness (HI/d/D). The alignment of policies with their implementation, with robust monitoring, is essential for effective early intervention (EI) and early education (EE) outcomes. The study’s purpose was to review current South African EI and EE regulations, acts, and policies in relation to children with HI/d/D from birth to age six. An adapted Arksey and O’Malley framework with inductive thematic analysis was applied to synthesise and evaluate relevant information. Documentation was sourced between 1993 and 2023 from the official South African government portal and Google online searches using keywords. While 7976 documents were initially identified with the broad search and 1249 with a refined category search, only 17 met the specific inclusion criteria for policies referencing hearing impairment in early intervention and education. Seventeen documents were selected for study inclusion, with sixteen mentioning HI/d/D and multi-disciplinary, multi-sectoral, family-centred, culturally sensitive considerations superficially. One document from the Department of Health (DoH) specifically addressed early hearing detection and intervention (EHDI). Three main themes emerged, including Partnerships, Participation and Integration, Screening, Identification and/or Intervention, and Education/Special Education. Greater engagement with South African EI and education policies is essential to strengthen implementation, especially across sectors and at the community level. Mandating EHDI guidelines is critical to improving service delivery and ensuring smoother transitions between health, education, and social services for children with hearing impairment. Full article

Human cytomegalovirus (HCMV) infection during pregnancy is a leading cause of congenital infections worldwide, posing significant risks to fetal health. Despite advances in prenatal care, managing HCMV infection remains challenging. Early detection, accurate risk assessment, and timely intervention are critical to mitigating the adverse outcomes associated with congenital HCMV (cHCMV), such as neurodevelopmental delays and hearing loss. However, the current landscape of biomarkers for HCMV infection in pregnancy is marked by several unmet needs. These gaps in biomarker development and application limit our ability to predict fetal transmission, assess the risk of fetal damage, and prognosticate long-term outcomes. Addressing these challenges through the identification and validation of novel biomarkers could revolutionize the management of HCMV in pregnancy, leading to improved outcomes for both mothers and their children. This review examines the critical unmet needs regarding HCMV biomarkers during pregnancy, emphasizing the priority areas for further research and innovation. Full article