Search Results (222)

Background: The management of pediatric microtia and congenital hearing loss typically necessitates coordinated multidisciplinary input. Traditional fragmented care pathways across multiple specialties may contribute to delayed diagnosis and treatment intervention, inconsistent counselling, increased logistical burden, and suboptimal care integration. Objectives: We aimed to evaluate family-reported outcomes following implementation of a multidisciplinary Hearing Disorder and Microtia (HDM) clinic, focusing on family satisfaction, perceived care efficiency, understanding of disease and treatment, and early uptake of hearing rehabilitation. Methods: A prospective observational study was conducted on families attending the HDM clinic at a tertiary pediatric center between 2022 and 2024. A structured post-visit survey assessed satisfaction, perceived efficiency, understanding of disease and treatment options, and overall experience. Quantitative data were analyzed descriptively, while qualitative responses underwent thematic analysis. Results: Twenty families were included. Overall satisfaction was high, with 95% rating the clinic experience as very good to excellent and expressing willingness to recommend the service. Improved care coordination and clarification of counselling were reported by the majority of respondents, alongside reduced logistical burden. Notably, 65% of families initiated hearing rehabilitation at the first visit. Thematic analysis identified convenience, unified specialist communication, and clarity of management planning as key strengths of the multidisciplinary model. Conclusions: A structured multidisciplinary HDM clinic significantly improves caregiver experience and facilitates earlier hearing rehabilitation in children with microtia and congenital hearing loss. Integrated care delivery enhances communication, reduces fragmentation, and supports timely, family-centered decision-making. This model may serve as a framework for other complex pediatric otologic conditions requiring longitudinal multidisciplinary management. Full article

Congenital Cytomegalovirus (cCMV) infection is the leading non-genetic cause of sensorineural hearing loss in newborns. Systematic nationwide screening programmes are lacking. Antiviral valganciclovir therapy could improve auditory outcomes if initiated within the first 30 days of life, making timely diagnosis crucial. To address this, we investigated whether a hearing screening-based protocol is suitable. Between 2015 and 2019, newborns, aged ≤21 days, with repeated abnormal newborn hearing screening (NHS) were prospectively enrolled at University Hospital Frankfurt. Oral mucosal swabs were tested for CMV DNA by real-time PCR, with confirmatory urine and blood diagnostics in positive cases. Of 2741 infants presenting for repeat NHS, 2059 (75.1%) showed normal bilateral findings. Of the 682 (24.9%) with abnormal results, 575 (84.3%) were aged >21 days and thus ineligible. A total of 107 infants (3.9%) met both criteria—abnormal NHS and aged ≤21 days—of whom 100 entered per-protocol analysis. Two (2%) were confirmed as cCMV-positive and received valganciclovir. Among the 48 infants who additionally underwent DBS testing, diagnostic sensitivity and specificity were 100%. The presented NHS-driven cCMV protocol reliably identified cCMV-infected newborns to offer timely antiviral therapy. In the absence of universal cCMV screening, this targeted approach offers a challenging but WHO screening-criteria-compliant strategy to enable timely antiviral intervention. Full article

Background: Genetic testing is increasingly part of the diagnostic pathway of congenital hearing loss (CHL), clarifying etiology and supporting clinical management. However, its psychosocial impact, especially differences between syndromic and non-syndromic conditions, remains underexplored. Objectives: This study evaluated the differential psychological impact of genetic diagnosis in syndromic versus non-syndromic pediatric patients, its relationship with clinical and rehabilitative variables, and the role of post-diagnostic psychological assessment. Methods: A cross-sectional post-diagnosis survey was conducted in families of children with genetically confirmed syndromic (Usher syndrome, n = 21) and non-syndromic (GJB2-related, n = 21) CHL; a total of 37 families responded. Parental empowerment was assessed using an Italian translated version of the Genetic Counseling Outcome Scale (GCOS-24). In an exploratory analysis, GCOS-24 items were grouped into three author-derived domains (understanding/awareness, emotional experience, and informational support) based on semantic content, not validated psychometrically. Results: No significant differences in GCOS-24 scores emerged between groups, nor in relation to clinical variables like hearing loss severity, auditory outcomes, or rehabilitative interventions. Genetic diagnosis occurred later in the syndromic group. Qualitative observations suggested parental empowerment varied with timing of diagnosis, clarity of information, and therapeutic alliance quality. Conclusions: Overall, these results highlight the importance of integrating psychological support and structured communication into clinical pathways to support families and patients in understanding and adapting to the diagnosis over time. Further longitudinal studies are needed to clarify the evolving psychosocial impact of genetic diagnosis in CHL. Full article

Background: Arthrogryposis consists of a heterogeneous group of congenital disorders characterized by multiple joint contractures. Distal arthrogryposes (DAs) are often caused by pathogenic variants in fast-twitch muscle protein genes, including MYH3, nosologically linked to DA2A and DA2B. Methods: We evaluated two siblings with features suggestive of arthrogryposis through detailed clinical examination, radiographic imaging, audiological assessment, and targeted next-generation sequencing (NGS) for skeletal dysplasias and an arthrogryposis panel, including MYH3. Variants were confirmed by Sanger sequencing, and segregation analysis was performed in available relatives. Results: Both patients harbored three heterozygous MYH3 variants: two maternally inherited in cis (c.749G>A and c.787G>T) and one paternally inherited in trans (c.4130_4138del), currently classified as variants of uncertain significance (VUS) and likely pathogenic, respectively. The female patient presented with a short neck, hand contractures, cubitus valgus, a widened internipple distance, and severe thoracolumbar scoliosis. The male sibling showed craniofacial dysmorphisms, more extensive musculoskeletal anomalies, and moderate-to-severe sensorineural hearing loss. The segregation analysis suggests an MYH3 autosomal recessive inheritance pattern. Conclusions: This report broadens the phenotypic spectrum of MYH3-related disorders, suggesting potential involvement in atypical DA phenotypes resembling DA4 (scoliosis) and DA6 (hearing loss), for which causative genes remain unknown. Comprehensive molecular testing and segregation analysis are essential to clarify genotype–phenotype correlations in congenital contracture syndromes. Full article

Congenital cytomegalovirus infection (cCMV) is the most common congenital infection and an important cause of sensorineural hearing loss and neurodevelopmental impairment, yet many affected infants remain undetected under selective screening approaches. We conducted a prospective national pilot study to evaluate the feasibility and diagnostic yield of universal dried blood spot (DBS)-based screening for cCMV within the Slovenian newborn screening program. DBS samples collected within 72 h of life were tested by polymerase chain reaction (PCR), and screen-positive newborns underwent confirmatory urine PCR within 21 days together with standardized clinical evaluation. Among 5556 screened newborns, 13 (0.23%) screened positive and cCMV was confirmed in 10, corresponding to a lower-bound birth prevalence of 1.80 per 1000 live births (95% confidence interval, 0.98–3.31), because confirmatory testing was limited to DBS-positive newborns. None of the confirmed cases were clinically suspected at birth, and all passed newborn hearing screening. Six infants met protocol-defined criteria for symptomatic cCMV and received valganciclovir. Historical registry-based clinical case ascertainment in Slovenia corresponded to 0.09 detected cases per 1000 live births. These findings demonstrate the feasibility of universal DBS-based cCMV screening within an established newborn screening infrastructure and suggest substantial under-ascertainment under selective clinical detection pathways. Full article

Cytomegalovirus (CMV) remains one of the most relevant congenital and early-life infections in pediatrics because of its high global seroprevalence, lifelong latency, and potential for reactivation or reinfection. Biologically, the virus poses a particular threat during pregnancy, when maternal primary infection carries a substantially higher risk of transplacental transmission than non-primary infection, with fetal and neonatal consequences that vary according to gestational timing and host vulnerability. In children, CMV infection is common in the first years of life and may contribute to a broad spectrum of outcomes, ranging from asymptomatic infection to severe multisystem disease, neurodevelopmental impairment, and sensorineural hearing loss. Clinically, the document highlights the importance of timely maternal diagnosis, differentiation between primary and recurrent infection, and integration of prenatal, neonatal, radiological, and audiological assessment. Attention is given to symptomatic and asymptomatic newborns, preterm infants, and infants exposed through breast milk. The availability of antiviral strategies in pregnancy and infancy strengthens the rationale for early identification and risk stratification. Universal newborn screening emerges as a potentially valuable approach to improve case detection, enable prompt follow-up, and reduce long-term disability. Overall, a multidisciplinary and early-intervention framework is essential to optimize prevention, diagnosis, treatment, and long-term outcomes in pediatric CMV infections. Full article

Background: Diagnostic anchoring to a presumed infectious etiology may delay recognition of underlying genetic disorders in children with neurodevelopmental impairment. Case presentation: A case of a child with sensorineural hearing loss, visual impairment, and developmental delay is reported; cytomegalovirus (CMV) infection was identified at 6 months of age based on positive serology and detection of viral DNA in serum and urine. Given the timing of testing, congenital CMV infection (cCMV) could not be definitively confirmed. Antiviral therapy with valganciclovir was administered. Despite antiviral treatment, severe neurodevelopmental impairment and hearing loss persisted, associated with facial dysmorphism, bilateral cryptorchidism, pectus excavatum, and optic nerve hypoplasia, findings not fully attributable to CMV infection. Brain magnetic resonance imaging (MRI) showed nonspecific findings. Chromosomal microarray analysis (CMA) performed at 4.5 years of age identified a heterozygous 908 kb de novo microdeletion at 19p13.2p13.13 containing NFIX (MIM *164005) and other morbid genes. The de novo variant was confirmed by parental testing, and the unifying genetic diagnosis of NFIX-related Malan syndrome (MIM#614753) was established. Conclusions: This case emphasizes the importance of reconsidering the initial diagnosis when the clinical phenotype is not fully consistent with an infectious etiology. Early genomic testing, including CMA, may facilitate timely recognition of underlying genetic syndromes in children with complex neurodevelopmental presentations. Full article

Background: China and India represent a large proportion of the Asian birth cohort and have produced extensive but heterogeneous evidence on neonatal hearing screening. This scoping review summarizes studies published between 2005 and 2025 on otoacoustic-emission-based neonatal hearing screening programs in these countries, with emphasis on program implementation, screening coverage, the prevalence of congenital and bilateral hearing loss, follow-up, and intervention pathways. Methods: Searches were conducted in PubMed, Scopus, and Google Scholar using predefined keywords. Studies reporting screening protocols, coverage, prevalence, or follow-up outcomes were included. The standard English language filter was used. A total of 19 papers were considered for this review. Results: The data from the two assessed Asian states show two clearly different screening implementation profiles. In China, universal hearing screening has evolved into a large-scale and increasingly standardized system, supported by technical specifications and regional or municipal databases. The reported screening coverage was 85.8% in early rural programs, 93.6% in Shanghai, and 97.9% in Liuzhou. National institutional surveys indicate that UNHS has now been substantially implemented in many regions. Reported hearing loss prevalence estimates generally ranged from 1.66 to 3.43 per 1000 newborns, although follow-up and regional equity remain problematic, especially in rural settings. In India, the evidence is dominated by tertiary-hospital feasibility studies rather than a uniformly implemented national program. Reported hearing loss prevalence estimates varied more widely, from 0.29 to 5.60 per 1000 screened newborns, largely reflecting differences in study design, screening timing, referral completion, and population risk profile. Across both countries, OAE-based two-stage or sequential OAE + AABR protocols reduced referral rates and improved case identification, but loss to follow-up remained a recurrent limitation. Conclusions: China and India provide complementary models of neonatal hearing screening expansion. China demonstrates the effects of system-level scale-up, whereas India highlights the feasibility and constraints of hospital-based implementation in a highly diverse healthcare environment. Future priorities include stronger follow-up systems, harmonized reporting standards, and broader dissemination of outcome data through peer-reviewed publications. Full article

Mutations in gap junction protein β-2 (GJB2), encoding Connexin 26 (Cx26), are the most common genetic cause of hearing loss, responsible for up to 50% of inherited non-syndromic cases worldwide. This review covers Cx26 from three perspectives: protein structure, mutant disease mechanisms, and treatment approaches. Structurally, 12 Cx26 subunits assemble into a gap junction channel connecting neighboring cells, enabling exchange of ions and signaling molecules; activity is regulated by calcium, pH, and CO₂. In the cochlea, Cx26 channels are required for the development of sound-sensing hair cells, maintenance of the electrical gradient needed for hearing, and energy supply during sound processing. GJB2 mutations cause hearing loss through three mechanisms, complete loss of functional protein, failure of channel assembly or membrane delivery, and abnormal channel gating, that damage cochlear cells. Severity ranges from profound congenital deafness to gradual decline, depending on which mutations are inherited. Gene therapy, genome editing, and pharmacological approaches are under investigation; cochlear implantation remains the current standard of care. Full article

Objectives: To characterize heterozygous pathogenic COCH variants in a French cohort with non-syndromic sensorineural hearing loss (NSHL) and assess genotype–phenotype correlations in autosomal dominant NSHL (DFNA9). Setting: National Reference Center for Genetic Hearing Loss, Necker–Enfants Malades Hospital, Paris, France. Methods: This retrospective observational study included 69 individuals from 20 unrelated families diagnosed with DFNA9 (2005–2025). All individuals underwent clinical and audiological evaluations and genetic testing via targeted COCH Sanger sequencing or next-generation sequencing (NGS) panels. Variants were interpreted according to ACMG guidelines. Audiometric profiles and vestibular data were collected. Results: Seven known pathogenic COCH variants were found in ten families, and ten novel likely pathogenic variants in the others. Variants in vWFA domains were associated with early or late onset, progressive, bilateral and symmetrical hearing loss. Three variants (p.Gln410Arg, p.Ile450Val, p.Cys542Arg) were associated with congenital or prelingual onset, an atypical DFNA9 presentation. Variants in the LCCL domain were associated with later-onset hearing loss and more frequent vestibular dysfunction. Vestibular abnormalities were observed in about half of early-onset cases. Conclusions:COCH-related hearing loss is a rare cause of autosomal dominant NSHL, with only 20 families identified over two decades within the French network. This study expands the mutational spectrum of COCH by reporting ten novel variants and supports a domain-specific genotype–phenotype correlation. These findings improve the understanding of DFNA9 variability and have direct implications for clinical diagnosis, prognosis, and genetic counseling. Full article

Background/Objectives: Children with single-sided deafness (SSD) have normal hearing in one ear and are deaf in the other. Navigating complex auditory environments with SSD may cause reallocation of cognitive resources necessary for executive functioning (EF), adding potential cognitive burden to listening, though this is not well understood. To characterize EF in children with SSD, we compared their test performance and everyday functioning on performance-based and caregiver-rated EF measures to normative values and to a group of children with temporal lobe epilepsy (TLE). Methods: A retrospective review compared children with unaided SSD (n = 45) to a clinically referred TLE group (n = 39), all aged 6–16 years old, on performance-based measures including verbal fluency (letter, category), digit span, coding, and the BRIEF general executive composite. In the SSD group, those with congenital and acquired onset were compared across the same performance-based measures and BASC-3 executive functioning composite, and BRIEF2 indexes (cognitive, emotional, and behavioral regulation). Within this SSD group, performance-based and caregiver-rated measures were correlated. Results: In the SSD group, caregiver-reported EF and test performance were within age expectations. However, SSD participants with congenital onset had poorer caregiver-reported everyday EF. Children with SSD and elevated caregiver-reported EF had greater challenges on performance measures of auditory working memory. EF profiles were similar in the SSD and TLE groups, except the TLE group showed significantly worse performance on semantic fluency. Conclusions: Caregiver-rated EF measures may serve as an important tool for detecting neuropsychological deficits in children with SSD. SSD children with congenital onset may benefit from closer EF monitoring. There was lower performance on digit span backward tasks that require auditory working memory in children with elevated daily EF. More research is needed to determine what factors, such as hearing technology use, contribute to EF in children with SSD. *The term SSD is used throughout this article as a neutral placeholder with respect to the variation of terms used with this population (e.g., deaf, hard of hearing, hearing loss, hearing differences, etc.). SSD is used to be inclusive of all cultural/medical perspectives and identities. Full article

Background and Objectives: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection during pregnancy has raised concerns regarding possible fetal consequences, including potential effects on auditory system development. Although the current literature suggests that overt congenital hearing loss is uncommon among newborns exposed in utero, subtle cochlear functional alterations may not be detectable through conventional threshold-based screening alone. The objective of this study is to investigate whether in utero exposure to maternal COVID-19 is associated with early cochlear functional changes in newborns, as assessed by frequency-specific transient evoked otoacoustic emission (TEOAE) amplitude ratios, and to determine whether such alterations are accompanied by differences in click-evoked auditory brainstem response (ABR) thresholds. Materials and Methods: This prospective cohort study was conducted between October 2021 and September 2022 and included 61 pregnant women: 30 with laboratory-confirmed SARS-CoV-2 infection during pregnancy (study group) and 31 without documented infection (control group). All newborns underwent standardized audiological evaluation shortly after birth, including otoscopy, TEOAE, click-evoked ABR, and tympanometry. Frequency-specific TEOAE amplitude ratios at 500, 1000, 1500, 2000, and 4000 Hz were compared between groups. A logistic regression analysis was performed to identify audiological predictors of newborn exposure to SARS-CoV-2 in utero. Results: No significant differences were observed in ABR thresholds or in TEOAE “pass/refer” outcomes between the control and study groups, indicating the absence of clinically overt HL. However, newborns exposed to SARS-CoV-2 in utero showed significantly reduced TEOAE amplitude ratios at 2000 Hz (p = 0.0077) and 4000 Hz (p = 0.020). Logistic regression identified the 4000 Hz amplitude ratio as an independent negative predictor of in utero exposure (OR = 0.75; p = 0.0352). No significant differences were detected at lower frequencies. Conclusions: Maternal COVID-19 during pregnancy was not associated with immediate neonatal HL but was linked to subtle high-frequency cochlear functional modulation. Longitudinal audiological follow-up is needed to clarify the clinical significance of these findings. Full article

Introduction: The present study aimed to compare cortical auditory maturation, as reflected by P1 latency of cortical auditory evoked potentials (CAEPs), in children with congenital severe-to-profound sensorineural hearing loss rehabilitated with unilateral cochlear implants (CIs) or bilateral conventional hearing aids (HAs). Materials and Methods: Eighty-five children with congenital severe-to-profound sensorineural hearing loss were included in this retrospective comparative study. Participants were divided into two groups: unilateral CI users (n = 42) and bilateral HA users (n = 43). All children were fitted with their devices before 48 months of age and achieved aided free-field thresholds between 30 and 50 dB HL. CAEPs were recorded using the Fonix^® HEARLab System with speech stimuli (/m/, /g/, /t/) presented at 55 dB SPL. P1 latency values were measured and compared between groups using independent samples t-tests. Correlation analyses were performed to assess the relationship between duration of device use and P1 latency. Results: Eighty-five children were included (CI: n = 42; HA: n = 43). Mean P1 latency values did not differ significantly between groups for the /m/ stimulus (126.4 ± 29.13 ms vs. 126.4 ± 29.28 ms, p = 1.00), /g/ stimulus (106.5 ± 26.46 ms vs. 110.1 ± 29.49 ms, p = 0.55), or /t/ stimulus (114.7 ± 22.93 ms vs. 118.5 ± 27.19 ms, p = 0.48). Age at device fitting was comparable between groups (27.95 ± 9.10 vs. 26.88 ± 14.15 months, p = 0.68). The duration of device use was significantly longer in the HA group (48.02 ± 28.39 months) compared to the CI group (26.00 ± 15.92 months) (p < 0.001). Correlation analysis revealed no significant association between duration of device use and P1 latency for any stimulus (/m/: p = 0.28; /g/: p = 0.17; /t/: p = 0.09). Conclusions: When devices were fitted before 48 months of age and aided thresholds were optimized, unilateral cochlear implantation and bilateral conventional hearing aids showed comparable P1 latency values as an index of cortical auditory maturation. These findings suggest that early and adequate auditory stimulation may play an important role in supporting cortical auditory development in children with congenital hearing loss, although results should be interpreted within the context of individualized clinical management. Full article

Background and Objectives: The inner ear has traditionally been regarded as an immunoprivileged and anatomically isolated organ. However, growing interest in neuro-lymphatic interactions has raised the hypothesis that glymphatic and lymphatic mechanisms may contribute to auditory pathology and its association with cognitive dysfunction. This systematic review aimed to synthesize current human evidence regarding anatomical, imaging, and clinical correlates of glymphatic mechanisms in the inner ear and audiological pathologies, and to quantitatively evaluate currently available biomarkers. Materials and Methods: A structured search of PubMed, Scopus, and Cochrane databases was performed from inception through March 2026. Eligible studies included human investigations reporting anatomical, histopathological, or MRI-based glymphatic assessments related to inner ear disorders. Risk of bias was assessed using the Newcastle–Ottawa Scale and Joanna Briggs Institute tools. Meta-analysis was conducted for diffusion tensor image analysis along the perivascular space (DTI-ALPS) indices comparing auditory disorders with healthy controls. Results: Six studies met inclusion criteria (five cross-sectional imaging studies and one surgical histopathological case series). Histopathology demonstrated lymphatic capillaries in advanced Ménière disease. MRI studies consistently reported reduced ALPS indices and/or increased choroid plexus volume and enlarged perivascular spaces in tinnitus, congenital sensorineural hearing loss, and age-related hearing loss. Meta-analysis of five studies showed a significant reduction of ALPS index in auditory disorders compared with controls (SMD = −0.73, 95% CI −0.90 to −0.55; p < 0.001), with no heterogeneity. Glymphatic markers were frequently associated with audiological data, cognitive performance and inflammatory biomarkers. Conclusions: Human evidence supports the presence of altered central glymphatic function across diverse auditory phenotypes. Although predominantly based on indirect MRI proxies and cross-sectional data, the meta-analytic findings strengthen the biological plausibility of an auditory–glymphatic interaction. Prospective longitudinal studies are warranted to clarify causality and therapeutic implications. Full article

Background/Objectives: The cochlea and vestibular organs develop concurrently during embryogenesis and share anatomical and functional pathways. As a result, congenital factors affecting the vestibulocochlear system may impair both hearing and vestibular function. Despite this, the relationship between congenital bilateral sensorineural hearing loss (SNHL) and vestibular dysfunction remains insufficiently defined. This study evaluated vestibular function in patients with congenital bilateral SNHL and investigated the association between hearing loss severity and vestibular function. Methods: A total of 202 participants aged 7–31 years were enrolled, including 102 patients with congenital bilateral SNHL and 100 healthy controls. Vestibular function was assessed using videonystagmography (VNG) during sinusoidal harmonic acceleration (SHA) rotational testing and caloric testing performed according to the Fitzgerald–Hallpike protocol, as well as with the video head impulse test (vHIT). Statistical analyses compared vestibular parameters between groups and assessed correlations with hearing loss severity. Results: Patients with congenital bilateral SNHL exhibited significantly lower vestibulo-ocular reflex (VOR) values in the SHA test compared to controls. Greater hearing loss severity was associated with lower VOR gain values. No statistically significant differences were observed between groups in caloric test results or vHIT VOR gain values. However, corrective saccades during vHIT were identified exclusively in patients with hearing loss and occurred in approximately 15% of cases. Furthermore, the age of independent walking was significantly delayed in the study group compared to controls. Conclusions: Congenital bilateral SNHL is associated with vestibular dysfunction, as evidenced by abnormal SHA test results and the presence of corrective saccades in vHIT. These patients may also experience delayed motor development. These findings suggest that vestibular dysfunction may be present in patients with congenital sensorineural hearing loss and may have functional implications. Full article