Search Results (63)

Background/Objectives: Children with normal newborn hearing screening results can develop hearing loss from various causes during their first years of life. Since 2016, a hearing and speech-language pathology screening has been conducted annually in kindergartens in Upper Austria in children aged 4 to 5 years. If an abnormal result is found, further evaluation is recommended. Methods: Data from the kindergarten hearing screening from 2018 to 2025 and hearing and speech screening from 2022/2023 were retrospectively analyzed. In addition, a prospective questionnaire survey was conducted with the parents of children who had an abnormal hearing screening result in 2024/2025. The survey asked whether the parents followed the recommendation for further evaluation and what the outcome of that evaluation was. Results: From 2018 to 2025, between 14,975 (2024) and 17,101 (2020) children were screened annually. The prevalence of abnormal hearing screening results ranged from 5.89% (2020) to 8.17% (2022). Abnormal grammar and articulation were found in 18.68% and 68.28% of the in-depth analyzed screenings of 4–5-year-old children in 2022, respectively. A total of 209 questionnaires were evaluated in the prospective questionnaire study. Approximately 70% of the participating parents reported having their child undergo the recommended evaluation by an ORL specialist. According to the parents, the most frequent cause of hearing impairment was middle ear effusion or Eustachian tube dysfunction. No new cases of sensorineural hearing loss were diagnosed in this population of 209 children, according to the parents surveyed. Conclusions: Nationwide screening in kindergartens allows for the early detection of hearing loss in early childhood, enabling children to receive evaluation and treatment. This is supported by the fact that, according to their parents, almost a quarter of the children with abnormal hearing screening results received a diagnosis requiring treatment from an ORL specialist. Full article

Persistent microscopic hematuria in children is often considered benign, yet recent evidence shows that a substantial proportion of affected individuals have underlying glomerular disease, particularly collagen IV-related nephropathies. We report a case of autosomal dominant Alport syndrome (ADAS) diagnosed just before discontinuation of long-term follow-up in a young woman initially presumed to have benign familial hematuria. The proband had persistent microscopic hematuria from early childhood, with normal renal function and no extrarenal manifestations. Her mother also had microscopic hematuria without kidney impairment, and the absence of accessible family history reinforced the assumption of benign familial hematuria. At age 42, the mother developed sensorineural hearing loss, and around the same time, the family learned that the maternal grandfather was undergoing dialysis for end-stage renal disease of unknown etiology. These findings prompted genetic testing, which identified a heterozygous pathogenic COL4A4 frameshift variant (c.2317_2318del; p.Arg773GlyfsTer14) in both the mother and the proband, confirming ADAS. This case illustrates the phenotypic variability of ADAS within a single family and highlights the limitations of relying solely on clinical features or incomplete family history. In contemporary practice, persistent glomerular hematuria warrants long-term follow-up and a low threshold for molecular testing of COL4A3-COL4A5, even in the absence of overt clinical signs. Earlier genetic evaluation would likely have enabled a timelier diagnosis in this case. This report underscores the importance of reassessing presumed benign hematuria and integrating genetic testing into the diagnostic approach for children and young adults with persistent microscopic hematuria. Full article

Background/Objectives: Spectral resolution is strongly associated with speech perception for adult cochlear implant users, but the developmental trajectory of spectral resolution in childhood is more complex and far less understood. Music-based training presents a unique opportunity to address this gap, as musical stimuli feature spectral complexity and fine frequency cues which map to spectral resolution. This study explored if a 12-week music-based intervention could support better spectral resolution in children with cochlear implants. Methods: Twelve children with cochlear implants participated in this longitudinal, repeated-measures study. The music training intervention consisted of group-based in-person music therapy and a take-home music app. Participants (six boys, six girls; M age = 7.3 years) were pseudo-randomized into an immediate training group (n = 4) or delayed-start waitlisted group (n = 8). Inclusion criteria required bilateral moderate-to-profound sensorineural hearing loss, prelingual device fitting, and consistent bilateral device use. Eight children had bilateral CIs and four were bimodal listeners. Results: Spectral resolution perception was significantly enhanced after participating in the music intervention with a mean increase of 2 rpo, F(3, 10.7) = 3.859, p = 0.017. Previous engagement with music and age were not associated with spectral resolution. Conclusions: Despite the known limitations of CIs on spectral resolution, the results of this study indicate that music training can improve spectral resolution perception in children using CIs. Full article

Ototoxicity represents a clinically significant complication of anticancer therapy in pediatric patients. Cytotoxic agents used in oncology, particularly platinum-based chemotherapy, may induce damage to the auditory and vestibular systems, resulting in hearing loss, tinnitus, and balance disturbances. Even mild hearing impairment during childhood may negatively affect speech perception, language development, communication abilities, and subsequent educational and psychosocial functioning. This narrative review aims to synthesize current evidence on treatment-related ototoxicity in children, with particular focus on commonly implicated therapies, clinical consequences, diagnostic approaches, and potential preventive strategies. A focused literature search was conducted in PubMed for publications from 2019 to 2025 addressing ototoxicity associated with pediatric anticancer treatment and audiological monitoring methods. The analysis indicates that platinum-based compounds, especially cisplatin and carboplatin, remain the primary agents associated with ototoxicity, with reported incidence ranging from approximately 20–70% for cisplatin and 10–30% for carboplatin. Additional risk factors include young age, baseline hearing status, renal function, and exposure to other ototoxic agents such as aminoglycoside antibiotics. Early detection relies on comprehensive audiological monitoring combining behavioral and objective methods, including pure-tone audiometry, extended high-frequency audiometry, otoacoustic emissions, and auditory brainstem response testing. Standardized grading systems such as ASHA, Brock, Chang, and SIOP Boston criteria play a key role in identifying and classifying ototoxic changes. Emerging research focuses on improved monitoring protocols, biomarker identification, and the development of otoprotective strategies, including sodium thiosulfate and experimental molecular therapies. Implementing systematic hearing monitoring and preventive strategies is essential to reduce long-term auditory complications and improve quality of life in pediatric cancer survivors. Full article

Background/Objectives: Childhood hearing loss (HL) affects auditory, linguistic, and social development. Alongside conventional rehabilitation, music-based interventions have gained increasing attention for their potential to support both auditory and non-auditory domains. This narrative review aims to summarize current evidence on the use of music-based interventions in children with HL. Methods: A narrative review of the literature was conducted, examining studies involving pediatric cochlear implant or hearing aid users. Publications were categorized into three main areas: musical auditory perception, musical training, and music therapy. Results: Studies on musical auditory perception demonstrate persistent limitations in pitch and timbre perception in children with HL, while rhythmic abilities appear relatively preserved. Musical training interventions, particularly those targeting rhythm, have been associated with improvements in auditory perception, linguistic processing, and selected cognitive skills, although parental involvement and long-term designs remain limited. Existing literature on music therapy is scarce but suggests potential benefits extending beyond auditory skills to emotional regulation, social interaction, and quality of life. Conclusions: Music-based interventions represent a promising complementary approach in pediatric hearing rehabilitation. While musical training is more widely studied, music therapy is still underrepresented despite its holistic focus. Further structured studies are needed to define standardized protocols and outcome measures for music therapy in children with HL. Full article

This systematic review and meta-analysis aims to determine the diagnostic yield of whole-exome and targeted-panel sequencing in children with hearing loss. We searched PubMed, Google Scholar, and the Cochrane Library to identify studies describing cohorts of >50 families undergoing whole exome or targeted panel sequencing. Studies were excluded if they pre-screened for common deafness genes without including the data in final analyses, focused on syndromic hearing loss, or lacked diagnostic yield information. Meta-analysis employed a random-effects model of single proportions to determine yield across included studies. The pooled diagnostic yield for bilateral hearing loss was ~47%, while unilateral cases demonstrated a yield of only ~5% across both testing methods. These findings demonstrate that the diagnostic yield for bilateral hearing loss exceeds that of other conditions frequently requiring clinical genetic testing, such as epilepsy and intellectual disability, though this advantage does not extend to unilateral hearing loss. These results have important implications for healthcare policy decisions regarding genetic testing guidelines and funding. Full article

Inherited distal renal tubular acidosis (dRTA) is a rare but clinically significant disorder of renal acid–base regulation that frequently presents in infancy or early childhood. Among the genetic causes of autosomal recessive dRTA, mutations in the ATP6V1B1 gene are particularly important due to their association with early-onset disease and sensorineural hearing loss. Failure to recognize and treat this condition promptly can result in growth retardation, bone disease, nephrocalcinosis, chronic kidney disease, and permanent auditory impairment. This article presents a comprehensive review of the pediatric literature concerning dRTA. We focus on the pathophysiology, pediatric presentation, renal and audiological outcomes, genetic architecture, and management implications of ATP6V1B1-associated dRTA in children. We highlight evolving genotype–phenotype correlations, the emerging recognition of autosomal recessive disease mechanisms, and the importance of early diagnosis and long-term multidisciplinary follow-up. Full article

Background/Objectives: Congenital cytomegalovirus (cCMV) is a leading non-genetic cause of childhood sensorineural hearing loss (SNHL), characterized by heterogeneous and dynamic hearing outcomes. Hearing impairment may be present at birth or emerge later in childhood. This study aimed to characterize hearing trajectories and laterality patterns in children with cCMV, with emphasis on congenital versus delayed-onset SNHL. Methods: We conducted a retrospective study of children with confirmed cCMV who underwent longitudinal audiologic follow-up. Hearing loss was classified as congenital SNHL or delayed-onset SNHL. Better- and poorer-ear thresholds, bilateral involvement, longitudinal changes, and follow-up duration were analyzed. Results: Of 195 included children, 59 (30%) developed SNHL. Congenital SNHL was present in 34 children (17%), while delayed-onset SNHL developed in 25 of 161 children (16%) who were born with normal hearing. Of these delayed-onset cases, 20 (80%) were asymptomatic at birth, while 5 (20%) presented with non-audiological neonatal symptoms. Longitudinal observation of the delayed-onset subgroup revealed that 36 ears developed SNHL during follow-up, spanning infancy through later childhood, including one case identified in early adulthood. Better-ear thresholds were significantly better preserved in delayed-onset SNHL, while poorer-ear thresholds were comparable across groups. Children with SNHL had substantially longer follow-up duration (60 ± 44.5 months) compared with those with normal hearing (37 ± 24.4 months). Conclusions: Children with cCMV-related SNHL exhibit dynamic and asymmetric hearing trajectories with clinically relevant differences between congenital and delayed-onset SNHL. These findings underscore the necessity of a risk-stratified, long-term surveillance framework that ensures individualized long-term monitoring and promotes sustained adherence to follow-up. Full article

Otitis media is among the most common pediatric illnesses globally, constituting a leading cause of antimicrobial prescriptions, recurrent medical consultations, and preventable hearing loss in early childhood. Traditionally regarded as a sterile cavity intermittently invaded by pathogens, the middle ear is now recognized as a dynamic ecological niche influenced by anatomical immaturity of the Eustachian tube, host immune development, and the composition of resident microbial communities. Increasing evidence demonstrates that microbial dysbiosis and the establishment of biofilms are central to the persistence and recurrence of disease. This review synthesizes current knowledge of the pediatric middle ear microbiome, highlighting how commensal organisms contribute to mucosal resilience and colonization resistance, whereas pathogenic bacteria exploit ecological disruption to establish biofilm communities. Biofilm formation provides bacteria with enhanced survival through immune evasion, altered microenvironments, and antibiotic tolerance, thereby transforming acute otitis media into recurrent or chronic states. Furthermore, studies demonstrate how adenoids act as reservoirs of biofilm-forming organisms, seeding the middle ear and perpetuating infection. The emerging ecological perspective emphasizes the limitations of conventional antibiotic-centered management and directs attention toward innovative strategies, including microbiome-preserving interventions, probiotic or live biotherapeutic approaches, and antibiofilm agents. By defining pediatric otitis media as a disorder of disrupted host–microbe equilibrium, future research may pave the way for precision-based preventive and therapeutic strategies aimed at reducing the global burden of this pervasive disease. Full article

Although cisplatin plays a vital role in chemotherapy protocols, its impact on hearing should not be overlooked. The ototoxic effects of cisplatin can lead to hearing loss. Childhood hearing loss can significantly impact various aspects of development. Understanding the mechanism of cisplatin-induced ototoxicity is crucial due to its high level of complexity. The process involves multiple interconnected steps, ranging from cisplatin absorption to its interaction with the cellular antioxidant defense system, nuclear DNA, mitochondria, and the cytokine cascade. Each of these interactions contributes to the overall pathophysiology of ototoxicity and is closely interrelated. Based on these, various hypotheses and conclusions were outlined, and we tried to analyze them as broadly as possible. Knowledge of these mechanisms has given rise to promising avenues and otoprotection strategies to combat ototoxicity. Although there is only one drug approved by the FDA (Food and Drug Administration), there are numerous drugs that target the mechanisms presented, but that need more evidence to be able to be used safely. In addition to these, the role of the multidisciplinary team should not be neglected and protocols should be established for periodic follow-up of patients treated with cisplatin to prevent hearing loss. This narrative review aims to point out all the aspects presented, based on the analysis of the literature and the conclusions drawn over time. We have selected the articles of interest and analyzed the studies that have obtained promising results to bring an overview of how cisplatin acts at the cochlear level, what can be done to combat these mechanisms, what solutions exist now and how we can prevent hearing loss. Full article

Childhood cancer treatments, including chemotherapy, radiation therapy, and combined modalities, pose significant risks to auditory function due to their ototoxic effects. Cisplatin, a chemotherapeutic agent commonly used in pediatric oncology, causes dose-dependent irreversible sensorineural hearing loss by damaging the inner ear structures, primarily through the generation of reactive oxygen species and the activation of apoptotic pathways. Radiation therapy exacerbates these effects, contributing to both sensorineural and conductive hearing loss via mechanisms such as vascular injury, inflammation, and fibrosis. The severity of hearing loss is influenced by the treatment timing, the cumulative dose, patient age, genetics, and concurrent therapies. The damaging effects of chemotherapy and radiation extend beyond the cochlea, involving the surrounding temporal bone as well as multiple levels of the auditory pathway. While pediatric patients may be candidates for bone-anchored hearing devices or cochlear implants, the need for serial imaging and the potential for implant-related MRI artifacts can complicate the timing of hearing rehabilitation. Moreover, the impact on the subcortical and cortical auditory structures may further influence the rehabilitation outcomes. This scoping review lays the foundation for future clinical and research efforts focused on the development of comprehensive pediatric guidelines for hearing preservation, monitoring, and rehabilitation, while also fostering multidisciplinary collaboration. Full article

Background/Objectives: Pediatric episodic vestibular syndrome (EVS) is increasingly recognized, with recurrent vertigo of childhood (RVC) and vestibular migraine of childhood (VMC) being the most prevalent disorders. In 2021, the Bárány Society and the International Headache Society proposed new diagnostic criteria for RVC, VMC, and probable VMC (pVMC), replacing the older term benign paroxysmal vertigo (BPV). This study aimed to evaluate the clinical applicability of these new criteria. Methods: We conducted a cross-sectional study at a pediatric neurotology clinic within a tertiary hospital, including patients under 18 years with episodic vestibular symptoms evaluated between 2018 and 2025. All patients underwent a standardized neuro-otological assessment. Diagnoses were assigned using both the 2018 ICHD-3 and the 2021 Bárány criteria. Patients who did not fulfill any of the three new diagnostic categories, nor met criteria for any other specific vestibular disorder, were grouped into an undetermined category referred to as episodic vestibular syndrome without hearing loss (EVSw/oHL). Demographic and clinical variables were compared across diagnostic groups using non-parametric and chi-squared tests. Results: Among the 202 children evaluated, 109 met the inclusion criteria and were classified as RVC (n = 55), VMC (n = 23), pVMC (n = 13), or EVSw/oHL (n = 18). All patients previously diagnosed with BPV met the new criteria for RVC. Application of the Bárány criteria significantly reduced the proportion of unclassified EVS cases (from 35.78% to 16.51%). Significant clinical differences were observed among the groups in terms of episode duration, presence of vomiting, migraine and headache, and family history of migraine. Conclusions: The new Bárány criteria provide a more inclusive and clinically meaningful framework for classifying pediatric EVS. They improve diagnostic clarity, reduce the proportion of unclassifiable cases, and support earlier and more tailored management strategies. 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

Platinum-induced ototoxicity constitutes a significant adverse effect in pediatric oncology, frequently resulting in permanent hearing impairment with profound implications for quality of life, language acquisition, and scholastic performance. This comprehensive review critically evaluates contemporary ototoxicity monitoring practices across various pediatric oncology settings, analyzes current guideline recommendations, and formulates strategies for implementing standardized surveillance protocols. Through examination of recent literature—encompassing retrospective cohort investigations, international consensus recommendations, and functional outcome assessments—we present an integrated analysis of challenges and opportunities in managing chemotherapy-associated hearing loss among childhood cancer survivors. Our findings demonstrate marked heterogeneity in monitoring methodologies, substantial implementation obstacles, and considerable impact on survivors’ functional status across multiple domains. Particularly concerning is the persistent absence of an evidence-based consensus regarding the appropriate duration of audiological surveillance for this vulnerable population. We propose a structured framework for comprehensive ototoxicity management emphasizing prompt detection, standardized assessment techniques, and integrated long-term follow-up care to minimize the developmental consequences of platinum-induced hearing impairment. This approach addresses critical gaps in current practice while acknowledging resource limitations across diverse healthcare environments. Full article

Background: Primary ciliary dyskinesia (PCD) is a rare hereditary disorder caused by defective motile cilia, predominantly affecting the respiratory system. Conductive hearing loss (CHL) due to chronic otitis media with effusion (OME) is a typical feature of PCD, particularly in childhood. However, the underlying mechanisms contributing to sensorineural hearing loss (SNHL) in patients with PCD remain unclear. Methods: We present the case of a 52-year-old male with a clinical diagnosis of PCD, confirmed by the presence of situs inversus, chronic respiratory symptoms, and ultrastructural ciliary defects. Results: Despite a history of recurrent acute otitis media (AOM), the patient developed severe bilateral SNHL, a relatively uncommon and poorly understood manifestation of PCD. Genetic testing revealed a pathogenic SH3TC2 variant, a gene classically associated with Charcot–Marie–Tooth disease type 4C (CMT4C), raising the possibility of an alternative or contributory genetic etiology for the patient’s auditory dysfunction. Conclusions: This case highlights the importance of comprehensive audiological and genetic evaluations in PCD patients, particularly those presenting with progressive or atypical HL. The presence of a pathogenic SH3TC2 mutation suggests a potential neuropathic component to the patient’s HL, underscoring the need for further research into the intersection between ciliary dysfunction and genetic neuropathies. Early identification and intervention are critical to optimizing auditory outcomes and quality of life in affected individuals. Full article