Congenital Cytomegalovirus Testing Outcomes From the ValEAR Trial.

Objective: To determine the positivity rate of congenital cytomegalovirus (cCMV) testing among universal, hearing-targeted CMV testing (HT-cCMV) and delayed targeted dried blood spot (DBS) testing newborn screening programs, and to examine the characteristics of successful HT-cCMV testing programs.

Study Design: Prospective survey of birth hospitals performing early CMV testing.

Setting: Multiple institutions.

Recurrent missense variant identified in two unrelated families with MPZL2-related hearing loss, expanding the variant spectrum associated with DFNB111.

MPZL2-related hearing loss is a rare form of autosomal recessive hearing loss characterized by progressive, mild sloping to severe sensorineural hearing loss. Thirty-five previously reported patients had biallelic truncating variants in MPZL2, with the exception of one patient with a missense variant of uncertain significance and a truncating variant. Here, we describe the clinical characteristics and genotypes of five patients from four families with confirmed MPZL2-related hearing loss.

Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield.

Objective: To evaluate factors influencing the diagnostic yield of comprehensive gene panel testing (CGPT) for hearing loss (HL) in children and to understand the characteristics of undiagnosed probands.

Study Design: This was a retrospective cohort study of 474 probands with childhood-onset HL who underwent CGPT between 2016 and 2020 at a single center. Main outcomes and measures included the association between clinical variables and diagnostic yield and the genetic and clinical characteristics of undiagnosed probands.

Association of Diet Patterns and Post-Operative Tympanostomy Tube Otorrhea: A Pilot Study.

Objective: The objective of this study was to explore diet patterns in children with tympanostomy tube placement (TTP) complicated by postoperative tympanostomy tube otorrhea.

Study Design: Cross-sectional survey and retrospective cohort study.

Methods: Caregivers of children (0-12 years old), at a tertiary-care pediatric hospital who underwent TTP within 6 months to 2 years prior to enrollment were included.

High-Dose Celecoxib for Pain After Pediatric Tonsillectomy: A Randomized Controlled Trial.

Objective: Pediatric tonsillectomy causes significant postoperative pain. Newer nonsteroidal anti-inflammatory drugs such as celecoxib control pain without increasing bleeding risk, but in prior studies provided only modest pain reduction at standard doses. We aimed to determine if high-dose celecoxib (double the usual pediatric dose) is effective for pain, without increasing bleeding or other risks.

Gadolinium-based contrast agent for Magnetic Resonance Imaging as a predictor of postmeningitic hearing loss in children.

Objective: To determine if Gadolinium-based enhanced Magnetic Resonance Imaging (GdMRI) can be used to predict sensorineural hearing loss (SNHL) in pediatric patients diagnosed with bacterial meningitis.

Study: Design: Retrospective chart review.

Setting: Primary Children's Hospital, Salt Lake City, Utah.

Audiologic Phenotype and Progression in Pediatric STRC-Related Autosomal Recessive Hearing Loss.

Objectives: Sensorineural hearing loss (SNHL) is a common sensory deficit affecting pediatric populations. The majority of pediatric SNHL is genetic in etiology, with over 123 identified nonsyndromic causative genes. One such gene is STRC, which has been identified as the second most frequent autosomal recessive nonsyndromic gene associated with SNHL in multiple populations.

Drug delivery to the pediatric upper airway.

Pediatric upper airway disorders are frequently life-threatening and require precise assessment and intervention. Targeting these pathologies remains a challenge for clinicians due to the high complexity of pediatric upper airway anatomy and numerous potential etiologies; the most common treatments include systemic delivery of high dose steroids and antibiotics or complex and invasive surgeries. Furthermore, the majority of innovative airway management technologies are only designed and tested for adults, limiting their widespread implementation in the pediatric population.

Validation of a Parent Proxy Quality-of-Life Measure for Young Children With Hearing Loss.

Objectives: No hearing-related quality of life (QL) questionnaire currently exists for children < 7 years. This study aimed to develop and evaluate the construct validity and reliability of a new parent-proxy Preschool Hearing Environments and Reflection on Quality of Life (HEAR-QL) questionnaire.

Methods: Parents of children 2 to 6 years old with any hearing loss (HL) were recruited from multiple sites.

Perspective on the Development of a Large-Scale Clinical Data Repository for Pediatric Hearing Research.

The use of "big data" for pediatric hearing research requires new approaches to both data collection and research methods. The widespread deployment of electronic health record systems creates new opportunities and corresponding challenges in the secondary use of large volumes of audiological and medical data. Opportunities include cost-effective hypothesis generation, rapid cohort expansion for rare conditions, and observational studies based on sample sizes in the thousands to tens of thousands.

ESRP1 Mutations Cause Hearing Loss due to Defects in Alternative Splicing that Disrupt Cochlear Development.

Alternative splicing contributes to gene expression dynamics in many tissues, yet its role in auditory development remains unclear. We performed whole-exome sequencing in individuals with sensorineural hearing loss (SNHL) and identified pathogenic mutations in Epithelial Splicing-Regulatory Protein 1 (ESRP1). Patient-derived induced pluripotent stem cells showed alternative splicing defects that were restored upon repair of an ESRP1 mutant allele.

International Pediatric Otolaryngology Group (IPOG) consensus recommendations: Hearing loss in the pediatric patient.

Objective: To provide recommendations for the workup of hearing loss in the pediatric patient.

Methods: Expert opinion by the members of the International Pediatric Otolaryngology Group.

Results: Consensus recommendations include initial screening and diagnosis as well as the workup of sensorineural, conductive and mixed hearing loss in children.

Temporal bone radiology report classification using open source machine learning and natural langue processing libraries.

Background: Radiology reports are a rich resource for biomedical research. Prior to utilization, trained experts must manually review reports to identify discrete outcomes. The Audiological and Genetic Database (AudGenDB) is a public, de-identified research database that contains over 16,000 radiology reports.

Children With Sensorineural Hearing Loss And Referral To Early Intervention.

Objective: Sensorineural hearing loss (SNHL) is identified at a rate of 1-3 per 1,000 newborns in the United States. Timely referral to Early Intervention (EI) services is critical, as early EI referral has been shown to improve outcomes, including speech and language development, social and emotional development, and academic performance. The objective of this study was to determine the rate at which children diagnosed with SNHL at a large tertiary referral center were referred to EI, and, if so, by whom.

Infectious complications and ventilation tubes in pediatric cochlear implant recipients.

Objectives/hypothesis: At many centers, ventilating tubes (VTs) are placed routinely in otitis-prone pediatric cochlear implant recipients. However, this practice is controversial, as many otologists believe VTs represent a possible route for contamination of the device. Toward better understanding of the safety of VTs, we reviewed our center's infectious complications and their relationship to the presence of tubes.

Unilateral cochlear nerve deficiency in children.

Objective: Cochlear nerve deficiency (CND) is increasingly diagnosed in children with sensorineural hearing loss (SNHL). We sought to determine the prevalence of CND, its imaging characteristics, and correlations with audiologic phenotype in children with unilateral SNHL.

Design: Case series with chart review.

Venous malformations of the temporal bone are a common feature in CHARGE syndrome.

Objectives/hypothesis: CHARGE (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and/or deafness) syndrome is a genetic disorder with prominent otolaryngologic features including choanal atresia and inner ear malformations. Recent experience with venous malformations during cochlear implant surgery prompted this study to define the spectrum of venous abnormalities in CHARGE and their surgical implications in otology.

Study Design: Retrospective review of medical and radiologic records from databases of patients with CHARGE syndrome from three tertiary care academic medical centers.

Early prediction of postmeningitic hearing loss in children using magnetic resonance imaging.

Objective: To determine whether early gadolinium-enhanced magnetic resonance imaging (GdMRI) can reliably detect meningitic labyrinthitis and thereby predict which children are at high risk for hearing loss. Permanent sensorineural hearing loss (SNHL) remains a common sequela of bacterial meningitis, and early diagnosis of the associated suppurative labyrinthitis can be difficult, especially in critically ill, sedated patients and young children.

Design: Retrospective cohort study.

Etiology of unilateral neural hearing loss in children.

Objective: Unilateral sensorineural hearing loss (SNHL) can be caused by a variety of lesions of the inner ear and central nervous system. An inner hair cell or neural site of pathology must be suspected when otoacoustic emissions (OAEs) are present, and inconsistent with audiologic data. We reviewed unilateral neural hearing loss (UNHL) in children, to better understand its etiology, clinical and audiologic features.

Real-time intraoperative computed tomography to assist cochlear implant placement in the malformed inner ear.

Objective: Cochlear implantation is increasingly being performed in children with inner ear malformations. In severe cochleovestibular anomalies, such as severe partitioning defects and common cavity dysplasia, positioning of the electrode array can be hazardous, with inadvertent placement into the internal auditory canal (IAC) or carotid canal being well known. We describe a case in which real-time intraoperative computed tomographic scanning was used to help achieve proper electrode positioning in a child with a severe malformation.

Intracranial complications of sinusitis in children and adolescents and their outcomes.

Objective: To gain insight into patterns of presentation, imaging, microbiological aspects, therapy, disease course, and outcome of intracranial complications of sinusitis (ICS), which are challenging conditions with the potential to cause significant morbidity and mortality. We reviewed our experience with ICS in children and adolescents.

Design: Consecutive case series with a mean follow-up of 12 months.

Molecular characterization of conditionally immortalized cell lines derived from mouse early embryonic inner ear.

Inner ear sensory hair cells (HCs), supporting cells (SCs), and sensory neurons (SNs) are hypothesized to develop from common progenitors in the early embryonic otocyst. Because little is known about the molecular signals that control this lineage specification, we derived a model system of early otic development: conditionally immortalized otocyst (IMO) cell lines from the embryonic day 9.5 Immortomouse.