Failed Hearing Screening Research Articles

Risk of Hearing Loss in Neonates and Toddlers with in Utero Exposure to SARS-CoV-2.

Given the prevalence of neonatal hearing loss (HL) associated with intrauterine viral exposures, the goal of this study is to provide information on neonatal HL in the context of the COVID-19 pandemic. Data were drawn from the COVID-19 Mother Baby Outcomes (COMBO) Initiative. 1007 participants completed the newborn hearing screen as part of routine clinical care (COMBO-EHR cohort) and 555 completed the National Survey of Children's Health (NSCH) at 2 and/or 3 years of age for research purposes (COMBO-RSCH cohort). Maternal SARS-CoV-2 infection status during pregnancy was determined through electronic health records and maternal-reported questionnaires. In adjusted multivariate logistic regression models covarying for newborn age at assessment, mode of delivery, and gestational age at delivery, there was no significant association between intrauterine SARS-CoV-2 exposure and newborn hearing screening failure (OR = 1.05, 95% CI = 0.39-2.42, p = 0.91) in the COMBO-EHR cohort. In the COMBO-RSCH cohort, there were similar non-significant associations between intrauterine exposure to SARS-CoV-2 and maternal-reported concern for HL on the NSCH (OR = 1.19 [95% CI = 0.30-4.24], p = 0.79). There is no association between intrauterine exposure to SARS-CoV-2 and failed hearing screen in neonates. Similarly, based on the NSCH, there is no association between intrauterine exposure to SARS-CoV-2 and maternal-reported concern for hearing in toddlers. These results offer reassurance given the widespread nature of this pandemic with tens of millions of fetuses having a history of intrauterine exposure. Level 4 Laryngoscope, 2024.

Epidemiology and outcomes of bacterial meningitis in the neonatal intensive care unit.

Examine pathogen distribution, antibiotic resistance patterns, and hospital outcomes of infants with bacterial meningitis in neonatal intensive care units (NICUs) in the US from 2013-2018. Infants were divided into 2 groups based on age at the time of meningitis: early-onset (0-3 days) and late-onset (>3 days). We compared demographics, clinical characteristics, epidemiology, hospital outcomes, distribution of organisms and resistance, and blood culture timing relative to cerebrospinal fluid culture. From 345 NICUs, 659 infants were diagnosed with bacterial meningitis. The cumulative incidence was 1.1-1.3 cases/1000 NICU discharges. Median gestational age was 33 weeks, median birth weight was 1910 grams, 12% failed hearing screening, and 9% died prior to discharge. Of 141 cases of E. coli meningitis, 53% were resistant to ampicillin. Significant morbidities occur in infants with culture-proven meningitis in NICUs. Culture and subsequent discernment of sensitivity are crucial to guide definitive therapy.

Useful Clinical Criteria for Identifying Neonates with Congenital Cytomegalovirus Infection at Birth in the Context of an Expanded Targeted Screening Program.

Cytomegalovirus (CMV) is the leading infectious cause of brain defects and neurological dysfunctions, including sensorineural hearing loss (SNHL). Targeted screening in neonates failing the hearing screen is currently recommended in Italy according to national guidelines. However, SNHL may not be present at birth; also, congenital CMV (cCMV) may manifest with subtle signs other than SNHL. Therefore, the inclusion of additional criteria for cCMV screening appears clinically valuable. Starting January 2021, we have implemented expanded targeted cCMV screening at our center, with testing in case of maternal CMV infection during pregnancy, inadequate antenatal care, maternal HIV infection or immunosuppression, birthweight and/or head circumference < 10th centile, failed hearing screen, and prematurity. During the first three years of use of this program (2021-2023), 940 (12.3%) of 7651 live-born infants were tested. The most common indication was birthweight < 10th centile (n = 633, 67.3%). Eleven neonates were diagnosed as congenitally infected, for a prevalence of 1.17% (95%CI 0.48-1.86) on tested neonates and of 0.14% (95%CI 0.06-0.23) on live-born infants. None of the cCMV-infected newborns had a failed hearing screen as a testing indication. Implementation of an expanded cCMV screening program appears feasible and of clinical value.

Universal and Expanded Screening Strategy for Congenital Cytomegalovirus Infection: Is Pool Testing by a Rapid Molecular Test in Saliva a New Choice in Developing Countries?

Background: Several screening strategies for identifying congenital CMV (cCMV) have been proposed; however, the optimal solution has yet to be determined. We aimed to determine the prevalence of cCMV by universal screening with saliva pool testing and to identify the clinical variables associated with a higher risk of cCMV to optimize an expanded screening strategy. Methods: We carried out a prospective universal cCMV screening (September/2022 to August/2023) of 2186 newborns, analyzing saliva samples in pools of five (Alethia-LAMP-CMV®) and then performed confirmatory urine CMV RT-PCR. Infants with risk factors (small for gestational age, failed hearing screening, HIV-exposed, born to immunosuppressed mothers, or &lt;1000 g birth weight) underwent expanded screening. Multivariate analyses were used to assess the association with maternal/neonatal variables. Results: We identified 10 infants with cCMV (prevalence: 0.46%, 95% CI 0.22–0.84), with significantly higher rates (2.1%, 95% CI 0.58–5.3) in the high-risk group (p = 0.04). False positives occurred in 0.09% of cases. No significant differences in maternal/neonatal characteristics were observed, except for a higher prevalence among infants born to non-Chilean mothers (p = 0.034), notably those born to Haitian mothers (1.5%, 95% CI 0.31–4.34), who had higher odds of cCMV (OR 6.82, 95% CI 1.23–37.9, p = 0.04). Incorporating maternal nationality improved predictive accuracy (AUC: 0.65 to 0.83). Conclusions: For low-prevalence diseases such as cCMV, universal screening with pool testing in saliva represents an optimal and cost-effective approach to enhance diagnosis in asymptomatic patients. An expanded screening strategy considering maternal nationality could be beneficial in resource-limited settings.

Impact of Cytomegalovirus (CMV) on an Academic Pediatric Infectious Diseases Outpatient Clinic Referral Population, 2005-2020: Will the Advent of Universal Congenital CMV (cCMV) Screening Change Clinical Practice Referral Patterns?

Cytomegalovirus (CMV) infections exert a substantial impact on the practice of pediatric infectious diseases. Although most infections in children are minimally symptomatic, several populations are at risk for CMV-associated disease, including immunosuppressed children, children with HIV infection, and, most significantly, children with congenital CMV (cCMV) infection. In spite of the ubiquitous nature of CMV infection, few studies have quantified the impact of CMV-associated care in a pediatric outpatient clinic setting. We evaluated the impact of CMV on clinical care in an outpatient clinic setting over a fifteen-year period at the University of Minnesota (UMN) Masonic Children's Hospital Pediatric Infectious Diseases (PID) Clinic. A retrospective review of clinic appointments identified 253 unique patients specifically evaluated over this time period for consideration of CMV infection. Of these, 242 were pediatric patients. The majority of the pediatric patients evaluated in the PID clinic were referred for either confirmed or suspected cCMV infection, including children referred for consideration of CMV as a potential reason for a failed newborn hearing screen (NHS) and/or for evaluation of CMV as a possible etiology for documented hearing loss. In total, 116 of the children evaluated during this time period (48%) were unequivocally confirmed as having cCMV infection, with an additional 37 (15%) presenting with presumed, probable, or possible cCMV infection. A total of 16 (7%) of the pediatric CMV cases were confirmed to be post-natally acquired infections. Of the 253 total patients, 11 (4%) of the referrals were for pregnant patients seeking advice about potential therapies in the setting of a known or suspected primary maternal infection during their pregnancies, with an attendant risk of fetal CMV infection. This overview of the demographics and referral patterns for patients evaluated for known or suspected CMV infections in a tertiary care center outpatient PID clinic will serve as a useful baseline assessment, even as future patterns of outpatient care are highly likely to evolve. We predict that PID clinic referrals for newborns identified by universal cCMV screening programs will result in a shift of the CMV outpatient population to healthier infants with clinically inapparent infections, and care will need to be taken by practitioners not to over-medicalize management for these asymptomatic newborns.

Evaluation of newborn hearing screening results of infants with phenylketonuria

ObjectiveThe purpose of this study is comparing the newborn hearing screening failure rate between phenylketonuria (PKU) infants and matched healthy control infants. Patients and methodsBetween April 2021 and April 2023, data obtained from the national newborn hearing screening program were examined for patients who presented to the pediatric metabolism clinic of Konya City Hospital with a clinical and genetic diagnosis of PKU. A healthy control group, matched for age and gender, was established. The newborn hearing screening test results, demographic information, and pregnancy data of infants with PKU and the control group were compared to assess risk factors. ResultsIn the initial screening test, 23 out of 73 PKU infants (31.5%) and 12 out of 73 infants in the control group (16.4%) failed the test (p = 0.033). Among the 23 PKU infants who did not pass the first test, 9 (35%) also failed the second test and were referred. In contrast, all 12 infants in the control group who did not pass the first test passed the second test. The failure rate in the second test was significantly higher in PKU infants compared to the control group (p = 0.003). It was observed that the maternal age of PKU infants who underwent the second test was significantly higher than that of the control group (p < 0.029). Diagnostic hearing test results were found to be normal in all nine PKU patients who failed the secondary screening test and were referred to a tertiary center. ConclusionIn our study, it was determined that infants with phenylketonuria (PKU) who did not have any risk factors for hearing loss failed the hearing screening test significantly more than healthy infants.

Newborn cytomegalovirus screening: is this the new standard?

Congenital cytomegalovirus infection (cCMV) is a major cause of childhood hearing loss and neurodevelopmental delay. Early identification of cCMV allows for interventions that improve outcomes, particularly for cCMV-related hearing loss that develops in early childhood. Most cCMV is asymptomatic at birth and is rarely diagnosed without newborn screening. Therefore, various approaches to cCMV screening are increasingly being adopted. Both universal screening (testing all newborns) and targeted screening (testing triggered by failed hearing screening) for cCMV appear valuable, feasible and cost-effective, though universal screening is predicted to have greatest potential overall benefits. CMV PCR testing of newborn oral swabs is sensitive and practical and is therefore widely used in targeted screening programs. In contrast, PCR using dried-blood spots (DBS) is less sensitive but was adopted by current universal cCMV screening initiatives because DBS are already collected from all newborns in high-income countries, which circumvents large-scale oral swab collection. Targeted screening is widely recommended as standard of care, while universal screening is less common but is progressively considered as the optimal strategy for identification of children with cCMV. As with all screening programs, cCMV screening requires commitments to equitable and reliable testing, follow-up and services.

The Effects of Mode of Delivery on Neonatal Screening Evaluated by Automated Auditory Brainstem Response

Background/Purpose: Neonatal hearing screening results are affected by several perinatal and neonatal factors. It is known that false positivity (FP) in the failure of newborn hearing screening increases parental concern and anxiety and has a negative impact on healthcare costs. There are conflicting reports on the effect of the mode of delivery on hearing screening results. This study aimed to investigate the role of mode of delivery on neonatal hearing by comparing the automated auditory brainstem (ABR) results of newborns born with vaginal delivery (VD) or cesarean section (CS) and to identify perinatal and neonatal factors associated with failure of the first neonatal hearing screening test results.&#x0D; Methods: This retrospective case-control study was conducted at our obstetrics clinic between December 2018 and June 2019. Following the exclusion of newborns with incomplete data, with congenital and chromosomal anomalies, with CMV infection, with anatomical deformities involving the face and the ears, and who received their hearing screening

Hearing Outcomes in Failed Newborn Hearing Screening Infants With and Without Chronic Serous Otitis.

To identify outcomes in hearing loss (HL) diagnosis and intervention in infants with a failed newborn hearing screen (NBHS) and otitis media with effusion (OME) compared to those with failed NBHS and without OME. Retrospective review. Tertiary medical center. A chart review was performed on infants referred to Primary Children's Hospital for failed NBHS from 2012 to 2018. Eighty infants with failed NBHS and OME and 55 with failed NBHS and no OME were included. Incidence of permanent HL along with the age of HL confirmation and early intervention (EI) enrollment were compared. The incidence of OME in infants with failed NBHS was 59.3%. Fifty-six percent of infants with OME and 12.5% of those without OME did not receive definitive hearing confirmation in either ear due to loss to follow-up or insufficient audiometric assessment. Permanent HL was identified in 11.3% (n = 9) of infants with OME and in 20.0% (n = 11) of those without OME. Infants with OME were significantly older at the time of HL confirmation (4.2 ± 2.1 months) and EI enrollment (5.4 ± 2.5 months) compared to those without OME at the time of HL confirmation (1.0 ± 1.0 months; p < .001) and EI enrollment (2.6 ± 1.8 months; p = .04). Infants with failed NBHS and OME are highly susceptible to a significant delay in HL confirmation or lack of confirmatory hearing tests. Timely OME resolution with earlier ventilation tube insertion by 3 months of age and follow-up audiologic assessment is recommended.

Our results of the school-age hearing screening program

Objectives: This study evaluated the results of the hearing screening program in school-age children in our region and their etiologies. Patients and Methods: The school-age hearing screening audiometry results of 6,073 first-year primary school students (2,915 males, 3,158 females; mean age: 75.6±3.9 years; range, 66 to 84 years) performed between January 2019 and March 2020 were retrospectively scanned from the Ministry of Health National Hearing Screening Program database. The data of children who were referred due to hearing screening failure or risk factors were also scanned and included in the study. Results: One hundred eighty-three (3%) of the 6,073 first-year students who underwent screening audiometry were referred to an otolaryngologist due to failing the test or risk factors. Of the 183 referred children, 74 (40.5%) had impacted cerumen, and 48 (26.5%) had otitis media with effusion. Control audiometry tests of 61 (33%) children were normal. No statistically significant difference was observed in referral rates between the sexes. The hearing loss type was conductive hearing loss in all children with hearing loss. Conclusion: Although impacted cerumen is an easily preventable cause, it negatively affects academic performance, speech, and language development when left untreated. The high incidence of preventable and treatable hearing loss in preschool and school-age children and, although not observed in our study, the prevalence of acquired sensorineural hearing loss in these age groups shows the importance of hearing screening programs and the need for widespread use.

Neonatal stridor presents at home – vocal fold paralysis as rare presenting feature of CHARGE syndrome

Abstract Objectives To present an unusual presentation and diagnosis of CHARGE syndrome with vocal fold paralysis, a rarely associated congenital laryngeal anomaly, as the presenting feature. Case presentation A four-day old, full-term, male infant born via uncomplicated vaginal delivery with a nursery course significant for failed hearing screen presented to an emergency department (ED) with respiratory distress and worsening stridor. He was transferred to a level III neonatal intensive care unit (NICU) for further evaluation and required intubation due to progressive hypercarbia. Laryngoscopy revealed left-sided unilateral vocal fold paralysis (VFP). He underwent further evaluation that included a normal MRI brain, neck and chest. Genetics was consulted with concern for dysmorphic features on physical exam. Following gene panel testing, VFP was attributed to known association with CHARGE syndrome. Airway edema was noted on laryngoscopy that prevented extubation until two months of age. Further features of CHARGE syndrome identified included colobomas, glaucoma, sensorineural hearing loss, and genital abnormalities. He was discharged in room air and following gastrostomy tube placement with otolaryngology follow up. Conclusions Although choanal abnormalities are classically associated with CHARGE syndrome, other upper airway anomalies such as VFP may be present. VFP is a rarely reported anomaly in association with CHARGE syndrome (Naito Y, Higuchi M, Koinuma G, Aramaki M, Takahashi T, Kosaki K. Upper airway obstruction in neonates and infants with CHARGE syndrome. Am J Med Genet 2007;143A:1815–20; Morgan D, Bailey M, Phelps P, Bellman S, Grace A, Wyse R. Ear-nose-throat abnormalities in the CHARGE association. Arch Otolaryngol Head Neck Surg 1993;119:49–54).

Implementing hearing screening among children aged 0-59 months at established immunization clinics in Uganda: A multi-center study.

The prevalence of childhood hearing loss (HL) is high in low and middle income countries (LMICs), with many of the affected children facing communication delays and poor opportunities for education. Despite the increased advocacy for childhood hearing screening globally, Uganda has no established childhood hearing screening programs. This study set out to introduce hearing screening services by non-specialist health workers at routine immunization clinics among children aged 0-59 months and describe the prevalence and factors associated with failed hearing screening (HS) in these children. A cross-sectional multi-center study was conducted at immunization clinics at three regional referral hospitals (RRHs). A semi structured questionnaire was used to capture data on socio-demographic, clinical factors and the two stage Transient Evoked Oto-acoustic emissions (TEOAEs) screening performed on children aged 0-59 months. A child that failed two stage screening was considered to have failed HS. Logistic regression was used to calculate odds ratios (OR) for factors associated with failed HS. 1217 children were recruited at three RRHs, with a median age of 2 months (range: 0 to 59), half were male 52% (n=633). Overall 45 children failed two staged TEOAE screening giving a prevalence of failed HS of 3.7%, of these 27 (2.2%) and 18 (1.5%) failed unilaterally and bilaterally respectively. Children of rural residence (aOR=2.18, p=0.027), of low birth weight (aOR=0.42, p=0.045), with relatives having hearing loss (aOR=4.64, p= <0.001), who were admitted in hospital after birth (aOR=3.72, p=0.012) and a history of a childhood suppurative otitis media (aOR=9.53, p=0.015) all had increased odds of failed HS. The prevalence of failed screening is high. Implementation of childhood hearing screening by non-specialist health workers at immunization clinics using TEOAEs is possible and may be a necessary initial step in starting countrywide hearing screening in Uganda.

Targeted new screening for congenital cytomegalovirus infection: clinical, audiological and neuroimaging findings

ObjectiveTo evaluate clinical, audiological and neuroimaging findings in a cohort of infants diagnosed with congenital cytomegalovirus (cCMV) infection after failure at newborn hearing screening.MethodsA prospective observational study in the Netherlands,...

2124. Active surveillance for Congenital Cytomegalovirus infections as part of institutional protocol for newborns with failed hearing screening

Abstract Background Congenital cytomegalovirus (cCMV) is the leading infectious cause of sensorineural hearing loss in newborns. Universal screening for cCMV is not recommended in the United States. It is important to establish effective strategies for early detection of newborns with cCMV, as most of them are asymptomatic at birth. Methods As per institutional protocol at Louisiana State University Health Sciences Center in Shreveport, every newborn who fails auditory brainstem response (ABR) hearing screen is referred to Audiology and is evaluated with CMV polymerase chain reaction (PCR) from urine samples to rule out cCMV before they are discharged home. We intended to evaluate the proportion of newborns failing hearing screening during a two-year period that are positive for CMV by urine PCR and that are referred to Pediatric Infectious Diseases for cCMV treatment. Results From January 1st, 2020, to March 6th, 2022, 4,010 newborns had ABR based hearing screening at birth, with 125 (3%) failing on two attempts. Subsequently, 85 of them, corresponding to 68%, passed repeat testing at Audiology clinic, while 25 did not show up for their appointments. Out of the 67 infants that passed repeat hearing test and were tested for cCMV, none had positive urine CMV PCR results. Among the 15 newborns who failed repeat hearing test in Audiology clinic, 2 (13%) had positive urine CMV PCR results, 9 had negative results and 2 infants did not have tests done (Figure 1). Both infants diagnosed with cCMV showed severe to profound sensorineural hearing loss and are being followed by Otorhinolaryngology. They are also receiving oral valganciclovir for cCMV infection with a plan to receive treatment for 6 months, being followed periodically by Pediatric Infectious Diseases. Evaluations with urine CMV PCR in newborns with repeat hearing screening showed that all 67 that passed were negative; and out of the 15 infants that failed repeat testing, 2 had positive CMV PCR results. Conclusion Our institutional protocol recommends sending urine samples for CMV PCR in every baby that fails newborn ABR hearing screen, and this has helped identified neonates with cCMV infections in the setting of severe to profound sensorineural hearing loss. These patients diagnosed with cCMV are planned to receive treatment for 6 months. Our future goals involve evaluating if early treatment of cCMV for 6 months can prevent progression of hearing loss and help achieving improved audiological outcomes at 2 years of age. Disclosures All Authors: No reported disclosures.

Effect of antenatal dexamethasone therapy on hearing screening in premature infants: A retrospective case-control study

PurposeHearing impairment has a great impact on children's auditory language development, which causes serious socio-economic burden. Existing data showed the effect of antenatal dexamethasone treatment on hearing of premature infants is controversial, which may be caused by different treatment courses. Therefore, this study explored the effects of different courses of antenatal dexamethasone treatment on hearing of premature infants. MethodAll premature infants born in West China Second University Hospital, Sichuan University from 2018 to 2020 with abnormal hearing screening were included. We matched premature infants who passed the hearing screening according to the gestational age (±1 week) at a ratio of 1:1. Antenatal dexamethasone information, hearing screening results, and postnatal diagnosis related to hearing were available. ResultsA total of 299 premature infants failed hearing screening. In the final logistic model, antenatal use of 4 doses of dexamethasone reduced the hearing screening failure rate of premature infants (OR 0.39; 95 % CI: 0.22–0.69). Excessive exposure (OR 1.01; 95 % CI: 0.45–2.23) and incomplete exposure (OR 1.03; 95 % CI: 0.59–1.80) had no effect on the hearing screening of premature infants. ConclusionAntenatal dexamethasone therapy has a dose-dependent protective effect on hearing loss in premature infants.

SCIDISH – AN UNPREDICTED CASE OF T CELL LYMPHOPENIA, HYPOCALCEMIA, AND SKELETAL ANOMALIES

<h3>Introduction</h3> Biallelic pathogenic variants in <i>PAX1</i> lead to autosomal recessive otofaciocervical syndrome 2 (OTFCS2), characterized by facial and ear abnormalities, hearing loss, skeletal dysplasia, intellectual disability, branchial defects, and athymia. This rare case describes an infant who presented with T cell lymphopenia and hypocalcemia and was diagnosed with a novel homozygous PAX1 variant. <h3>Case Description</h3> A 6-day-old boy born to consanguineous parents was admitted for an abnormal newborn screen (TREC=0) and primary immunodeficiency with T-B+NK- immunophenotype (33/uL CD3+T-cells, 30/uL CD3/CD4/CD45RO cells, undetectable CD3/CD4/CD45RA cells, undetectable CD16/CD56NK-cells). Exam showed dysmorphic facial features, left preauricular pit, and sacral and should dimples. He received prophylactic antimicrobials, and immunoglobulin replacement for hypogammaglobulinemia. He developed seizures, attributed to hypocalcemia secondary to hypoparathyroidism. Further workup indicated presence of NK cells, absent thymic shadow, ASD and PFO on echocardiogram, failed hearing screen, mild laryngomalacia, kyphosis, and spinal subluxation of L5 on S1. FISH and microarray were negative for 22q11.2 deletion. Invitae Primary Immunodeficiency Panel revealed homozygous VUS (c.509C>A(p.Pro170His)) in PAX1, and parents are heterozygous carriers. Patient's clinical picture was most consistent with OTFCS2 with athymia. He was referred for thymus transplantation. <h3>Discussion</h3> Primary thymic defects should be considered in patients with abnormal SCID NBS, specifically in those with hypoparathyroidism. We suggest early genetic testing, as identification of the underlying defect is crucial for prognosis and management. As T-cell dysfunction in OTFCS2 is due to aberrant thymic development, allogeneic thymus transplantation is the expected curative treatment, whereas patients with PAX1 defects who underwent hematopoietic stem cell transplantation failed to gain T cell reconstitution.

Comparison of hearing screening outcomes in newborns of gestational diabetic and non-diabetic mothers: a prospective, controlled study

Objectives To investigate whether Gestational diabetes mellitus (GDM) is related to presumptive hearing impairment in newborns. Study design The newborns were divided into two groups. The first group included the children of gestational diabetic pregnancies (DPs), and the second group, the children of non-gestational diabetic pregnancies (NDPs). Transient evoked otoacoustic emissions (TEOAE) and automated Auditory Brainstem Response (aABR) tests were applied as hearing screening tests. Results Twenty (40.8%) newborns in the DPs group and 5 (7.7%) newborns in the NDPs group failed the first hearing screening test (p = .001). The number of newborns with bilateral failed hearing screening tests was higher in the DPs group at the first screening (75% vs. 20%, p = .04). Fifteen (75.0%) of 20 newborns in the DPs group and 1 (20.0%) of 5 newborns in the NDPs group failed the second TEOAE hearing screening test (p = .04). Conclusion The possibility of presumptive hearing impairment is higher in the newborns of mothers with gestational diabetes compared to the newborns of non-diabetic mothers.

Compound heterozygous variants of the SLC26A4 gene in a Chinese family with enlarged vestibular aqueducts

BackgroundTo investigate the genetic causes of hearing loss in patients with enlarged vestibular aqueduct (EVA), the SLC26A4-related genotypes and phenotypes were analyzed. SLC26A4 gene is closely associated with EVA and its homozygous mutations or compound heterozygous mutations may cause deafness and strongly affect quality of life.MethodsThe patients who came to our hospital for hearing test and accompanied by bilateral hearing abnormalities were collected for fifteen deafness-related gene mutations detection. Those who are positive will be verified by Sanger sequencing, combined with family history, hearing test, and computerized tomography (CT) of the temporal bone, aiming to diagnose the enlarged vestibular aqueducts. Whole-exome sequencing were performed when necessary.ResultsOur patient failed hearing screening on both sides twice, and EVA (> 1.5 mm) was diagnosed by CT. This study has identified a novel missense mutation in the SLC26A4 gene, c.2069T>A, which in compound heterozygosity with c.1174A>T is likely to be the cause of hearing loss. The novel heterozygous c.2069T>A mutation of SLC26A4 gene has been submitted to Clinvar with Variation ID 1,048,780.ConclusionOur findings expand the gene mutation spectrum of SLC26A4 and provide additional knowledge for diagnosis and genetic counseling associated with EVA-induced hearing loss.

Early Childhood Neurodevelopmental Outcomes in Children with Prenatal Zika Virus Exposure: A Cohort Study in Puerto Rico

To describe anthropometric, sensory, and neurodevelopmental outcomes of children who were Zika virus-exposed from birth to 36months. The study cohort included 114 children born to mothers with confirmed and probable Zika virus pregnancy infection in 2016-2017. Children attending study visits from May 2017 through February 2020 underwent physical/neurologic, sensory examinations, and neurodevelopmental assessments with the Bayley Scales of Infant and Toddler Development, Third Edition (BSID-III) and Ages and Stages Questionnaires, Third Edition (ASQ-3). Three of the 114 children (2.6%) had microcephaly (z-score for head circumference≤-2) at birth, 19 of 35 (54.3%) had posterior eye abnormalities in retinal images, and 11 of 109 (10.1%) had nonspecific findings on brain ultrasound. Three of 107 children (2.8%) failed hearing screening at birth. Of those children with follow-up data, 17 of 97 (17.5%) failed age-appropriate vision screening. The BSID-III identified developmental delay in at least 1 domain in at least one-third of children, with higher prevalence in the language domain. ASQ-3 screen positive delay peaked at around 24 or 36months, with some domains showing a decrease at older ages. Correlations among BSID-III and ASQ-3 scores were observed, representing professional and parental perspectives at 24 and 36months (r=0.32-0.78; P<.05). The presence of neurodevelopmental sequelae in early childhood suggests that identification of long-term impairment remains critical to attaining optimal child development. Long-term follow-up highlights vulnerability in the language domain, which likely could be influenced by early intervention, promoting cognitive development and school readiness in exposed children.

An evaluation of newborn hearing screening brochures and parental understanding of screening result terminology

Objective To assess the suitability of newborn hearing screening brochures by evaluating current state-level brochures and pregnant people’s understanding of screening result terminology. Design In Study 1, state-level brochures were evaluated based on readability, design, picture appropriateness, and use of the word “refer.” In Study 2, pregnant people completed a questionnaire that queried their understanding of and expected anxiety about three newborn hearing screening outcomes (“refer,” “did not pass,” and “pass”). Study sample In Study 1, 59 newborn hearing screening brochures were analysed. In Study 2, 43 pregnant people completed surveys during a prenatal appointment. Results Most of the brochures were found deficient on at least one element. Thirty percent of brochures used the word “refer” to indicate a hearing screening failure; yet, fewer than half of participants understood its meaning. Ratings of expected anxiety were highest in response to the term “did not pass.” Conclusions Based on four study criteria of brochure suitability, 88% of available state-level newborn hearing screening brochures should be modified to make them readily understandable by a broad educational demographic. Discretion in use of the term “refer” should be made when indicating screening results, because the term is not readily understood.