Search Results (58)

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

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: Among the complications caused directly or indirectly by the Human Immunodeficiency Virus (HIV) are alterations in the auditory system. Children who are HIV-exposed but uninfected (HEU) appear to have a higher risk of hearing loss (HL) compared to their unexposed peers, but a lower risk than those infected with HIV. However, the literature remains inconclusive regarding this association. This study aims to evaluate the hearing function of HEU infants during the first months of life and to correlate these findings with maternal, gestational, and neonatal variables. Methods: This prospective cohort study included all HIV-exposed infants born in a quaternary hospital in southern Brazil between 2021 and 2023. Maternal, gestational, and neonatal data were collected, as well as the results of neonatal auditory screening. At approximately 6 months of age, otolaryngological and audiological assessments were performed, including wideband tympanometry and electrophysiological evaluation using Auditory Brainstem Response with frequency-specific stimuli. The prevalence of hearing loss refers to the number of infants affected. Results: Thirty-eight infants, with a mean age of 8 months (±3.3), completed the study. Of these, 1 (2.6%) presented with bilateral sensorineural HL, and 13 (34.2%) presented with conductive HL, with 6 cases being unilateral and 7 bilateral. No associations were found between hearing loss and maternal, gestational, or neonatal variables, except for maternal CD4 count, where higher CD4 cell counts were associated with an increased risk of conductive HL. Conclusion: The findings provide relevant data on auditory alterations in HEU infants, demonstrating a high prevalence of conductive HL. These results highlight the importance of monitoring the hearing of these children during the first years of life. Full article

Objectives: The purpose of this study was to compare the incidence of hearing loss at three months of age in a cohort of newborns with hypoxic-ischaemic encephalopathy (HIE) treated with therapeutic hypothermia (TH) with that reported in the literature. We also evaluated potential risk factors associated with audiological impairment and changes in hearing threshold during follow-up. Methods: This retrospective observational cohort study was conducted at the Neonatal Intensive Care Unit of the Fondazione Policlinico Universitario A. Gemelli, IRCCS in Rome, Italy, between January 2017 and December 2023. Infants underwent audiological screening and a full diagnostic evaluation at three months of age and were followed during the first year of life. Results: A total of 149 infants were enrolled, and hearing loss was identified in six (4.0%) at three months of age. Two of these six infants showed an improvement in their hearing threshold, resulting in a prevalence of permanent bilateral sensorineural hearing loss (SNHL) of four out of 149 infants (2.7%), with no cases of late-onset hearing loss detected. Gestational age was identified as an independent protective factor against SNHL (OR 0.49; 95% CI 0.22–0.91). Conclusions: The audiological screening program demonstrates effectiveness in early intervention for diagnosing and treating hearing loss. Infants with HIE are at high risk for hearing disorders and require increased attention in neonatological and audiological management. Management should be individualized based on specific risk factors. The association between gestational age and susceptibility to cochlear damage should be confirmed by further studies. Full article

Universal newborn hearing screening is essential for early identification of sensorineural hearing loss. Infants born to adolescent mothers may be more vulnerable to abnormal screening outcomes due to biological, socio-economic, and obstetrical risk factors frequently associated with adolescent pregnancy. This study evaluates hearing screening outcomes in newborns of adolescent mothers and examines whether maternal and neonatal vulnerabilities contribute to abnormal (REFER) results. A retrospective observational study was conducted over four years (January 2021–January 2025) at the “Sf. Ap. Andrei” County Emergency Clinical Hospital, Galați, Romania. The study included 187 newborns of adolescent mothers (≤18 years) and 3203 newborns of mothers aged >19 years. All infants underwent transient evoked otoacoustic emission (TEOAE) testing within 48–72 h after birth, according to institutional protocol. PASS/REFER outcomes were recorded, and retesting was performed when indicated. Although otological conditions such as middle ear dysfunction may influence OAE responses, routine otoscopic examination and clinical assessment were performed prior to testing. Automated auditory brainstem response (AABR) testing was not routinely applied due to equipment availability and local screening practices. The final REFER rate was slightly higher in the adolescent group (5.3%) compared with the adult group (4.8%). Maternal age alone was not directly associated with abnormal outcomes; however, maternal anemia, limited prenatal care, rural residence, prematurity, and low birth weight were more frequently observed among cases with persistent REFER results. Infants born to adolescent mothers show a modestly increased likelihood of abnormal hearing screening outcomes, primarily related to cumulative maternal and neonatal vulnerabilities. Strengthening prenatal care and targeted audiological follow-up may improve early detection of sensorineural hearing loss in this population. Full article

Background and Clinical Significance: Prader–Willi syndrome (PWS) is an imprinting disorder not typically associated with severe congenital sensorineural hearing loss (SNHL). When profound SNHL is present in an infant with a known syndrome, an independent monogenic etiology should be considered. We report the first molecularly confirmed case of PWS co-occurring with biallelic pathogenic TMC1 variants causing congenital SNHL, outlining diagnostic challenges, cochlear implant (CI) outcomes, and implications for blended phenotypes. Case Presentation: A male infant with PWS due to a paternal 15q11.2–q13 deletion failed newborn hearing screening. Diagnostic auditory brainstem response and auditory steady-state response confirmed bilateral severe-to-profound SNHL. Temporal bone CT/MRI were normal. Comprehensive genetic testing identified compound heterozygous TMC1 variants consistent with autosomal recessive DFNB7/11 hearing loss, plus two variants of uncertain significance in SERPINB6 and EPS8L2. Sequential bilateral cochlear implantation was performed (left ear at 14 months, right at 20 months), followed by auditory–verbal therapy. Over four years, the child showed steady improvements in hearing and early-speech development. Conclusions: Early genomic evaluation is essential when clinical features appear atypical for a known syndrome. Identifying TMC1-related deafness enabled timely cochlear implantation and measurable gains. This case highlights that severe congenital SNHL in a syndromic infant may reflect a distinct monogenic disorder rather than phenotypic expansion of the primary syndrome, emphasizing the importance of recognizing blended phenotypes to guide precision-care strategies in rare disorders. Full article

Congenital cytomegalovirus infection is an underrecognized congenital infection. Globally, it impacts approximately 1 of every 200 live births. Although infected infants can have an increased risk of long-term sequelae, such as neurodevelopmental impairments and sensorineural hearing loss, most of the infected infants do not show visible signs at birth. As congenital cytomegalovirus infection often goes undetected and screening programs are not widely accepted, awareness of congenital cytomegalovirus in neonates is lacking. The aim of this study is to offer the current status of the epidemiology, clinical manifestations, and laboratory testing for the diagnosis of congenital cytomegalovirus infection and newborn screening approaches. Full article

Cytomegalovirus (CMV) is the most common infectious cause of congenital malformations, often presenting with atypical clinical findings. Fetal damage is most severe following primary maternal infection during the first trimester of pregnancy, with the likelihood of transmission increasing with pregnancy advancement. CMV damage may continue to intensify during the early postnatal years. In this narrative review we summarized publications from the last 30 years addressing the epidemiology, diagnosis, prevention and treatment of CMV in pregnancy, with a special emphasis on embryonic and fetal damage. Substantial progress has been made in the diagnosis and treatment of CMV infection during pregnancy, warranting a reconsideration of current clinical approaches. Assessment of viral load enables prediction of fetal infection; its reduction by maternal treatment with valacyclovir may lower both the rate and severity of transmission. Confirmed fetal infection can be diagnosed by amniocentesis and viral DNA detection. Clinical manifestations in infants may be evident at birth (cCMV) or gradually emerge during the first years. The most common fetal damage is hearing loss alongside a variety of brain lesions resulting in significant neurological deficits, including intellectual impairment. Brain involvement is diagnosed by ultrasound or magnetic resonance imaging (MRI). Pharmacological treatment with ganciclovir or valganciclovir, if initiated early after birth, can slow the progression of hearing loss and may ameliorate other neurological and neurodevelopmental deficits. As of today, there is no approved CMV vaccine for prevention. The mRNA-1647’s vaccine, currently in phase 3 clinical trial, appears promising. These advances underscore the need for screening pregnant women in the first trimester and newborn infants of mothers suspected of having CMV infection. Neurodevelopmental follow up for several years, including hearing and visual assessment, is advised in all infants positive for CMV. Infants with clinical manifestations should be offered treatment as early as possible following diagnosis of cCMV. Full article

This study aims to investigate the genotype characteristics of newborns with biallelic GJB2 mutations and their correlation with hearing phenotypes, providing a basis for clinical genetic counseling and hearing management. A retrospective study was conducted on 652 newborns with biallelic GJB2 mutations detected at the Newborn Diseases Screening Center of Shenzhen Maternal and Child Health Care Hospital from January 2022 to December 2024. The differences in mutation types, hearing screening, and diagnostic results were analyzed and compared between the homozygous and compound heterozygous mutation groups to assess their correlation with hearing phenotypes. Genotype analysis identified 543 cases of homozygous mutations, mainly the c.109G>A/c.109G>A genotype (98.90%). Compound heterozygous mutations were identified in 109 cases, with the majority being c.109G>A/c.235delC (76.15%). Following two-stage hearing screening, 227 (34.82%) of the 652 cases were referred, with bilateral failure accounting for the majority (81.94%) of these cases. The referral rates showed no significant difference between the homozygous (35.54%) and compound heterozygous (31.19%) groups (p > 0.05). The overall hearing loss detection rate was 6.90% (45/652); among these, eight infants who had initially passed the newborn hearing screening were later found to have hearing loss between 2.5 and 6 months of age. Among the 45 confirmed deaf children, hearing loss was mainly mild to moderate (87.50%), and profound deafness was only seen in the homozygous mutation group (10.29%, 7/68 ears). Most newborns with biallelic GJB2 mutations passed the two-stage hearing screening, and associated hearing loss was typically mild to moderate. Long-term auditory monitoring remains essential for all genetically confirmed infants to monitor late-onset progression. Full article

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

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

Cytomegalovirus (CMV) represents the most prevalent cause of congenital viral infection in newborns and the leading non-genetic etiology of sensorineural hearing loss (SNHL) in children. Notably, only 10–15% of congenitally infected infants possibly present with classic clinical symptoms at birth, including Small for gestational age, Microcephaly, Petechiae or purpura, Blueberry muffin rash, Jaundice, Hepatomegaly, Splenomegaly and abnormal neurologic signs. In contrast, approximately 90% of infected neonates exhibit no apparent symptoms initially. Current research predominantly focuses on symptomatic cases due to their severe acute presentations and high rates of long-term sequelae (40–60%), including SNHL and neurodevelopmental impairments. However, significant controversy persists regarding the management of asymptomatic infants. Emerging evidence reveals that 8–15% of asymptomatic carriers develop Late-onset Hearing Loss (LOHL) beyond the neonatal period. Additionally, 5–10% may manifest neurodevelopmental abnormalities including mild intellectual disability, learning difficulties, or motor coordination disorders. Crucially, given the substantial population of asymptomatic cCMV cases, these delayed complications account for 30–40% of all cCMV-related long-term morbidity, underscoring their considerable public health impact. This review synthesizes current evidence and controversies regarding cCMV-related SNHL in asymptomatic or mildly symptomatic children, with a focus on screening, diagnostic classification, and antiviral management gaps, to heighten clinical awareness of this underrecognized cause of hearing loss. Full article

Objective: To evaluate the feasibility of vestibular screening in infants and investigate age-related changes in the characteristics of air-conducted sound cervical vestibular evoked myogenic potential (ACS-cVEMP) and bone-conducted vibration cervical vestibular evoked myogenic potential (BCV-cVEMP) in infants and children with normal hearing, aiming to provide new insights into the developmental trajectory of vestibular function during early childhood. Methods: A total of 159 subjects aged 3 months to 17 years old were divided into seven age groups. Additionally, 20 adults aged 18–30 years were included as controls to explore developmental changes in the sacculocollic reflex pathway. Results: The response rates of BCV-cVEMP in 3-month-olds were significantly higher than that of ACS-cVEMP (p = 0.048), while no significant difference was observed in other age groups (p > 0.05). Age-related changes were found in both latencies and amplitudes of ACS-cVEMP and BCV-cVEMP. ACS-cVEMP latencies reached adult levels at 13–17 years, while BCV-cVEMP latencies normalized by 7–12 years. ACS-cVEMP amplitudes increased with age, stabilizing at 4 years, whereas BCV-cVEMP amplitudes peaked at 4–6 years before gradually decreasing. Conclusions: This study demonstrates that cVEMP is not only a viable tool for vestibular screening in infants but also reveals crucial age-related developmental changes in the vestibular system. These findings contribute new insights into the maturation of the vestibular reflex pathways and provide normative data that can be used to guide early vestibular screening practices. Full article