Clinical Genetic Testing for Hearing Loss: Implications for Genetic Counseling and Gene-Based Therapies.

Genetic factors contribute significantly to congenital hearing loss, with non-syndromic cases being more prevalent and genetically heterogeneous. Currently, 150 genes have been associated with non-syndromic hearing loss, and their identification has improved our understanding of auditory physiology and potential therapeutic targets. Hearing loss gene panels offer comprehensive genetic testing for hereditary hearing loss, and advancements in sequencing technology have made genetic testing more accessible and affordable.

Otitis Media in Children with Down Syndrome Is Associated with Shifts in the Nasopharyngeal and Middle Ear Microbiotas.

Otitis media (OM) is defined as middle ear (ME) inflammation that is usually due to infection. Globally, OM is a leading cause of hearing loss and is the most frequently diagnosed disease in young children. For OM, pediatric patients with Down syndrome (DS) demonstrate higher incidence rates, greater severity, and poorer outcomes.

The Variant c.461G>A (p.Trp154*) Is Associated With Differentially Expressed Genes and Nasopharyngeal Microbiota Shifts in Patients With Otitis Media.

Otitis media (OM) is a leading cause of childhood hearing loss. Variants in , which encodes alpha-(1,2)-fucosyltransferase, were identified to increase susceptibility to OM, potentially through shifts in the middle ear (ME) or nasopharyngeal (NP) microbiotas as mediated by transcriptional changes. Greater knowledge of differences in relative abundance of otopathogens in carriers of pathogenic variants can help determine risk for OM in patients.

Multi-omic studies on missense PLG variants in families with otitis media.

Otitis media (OM), a very common disease in young children, can result in hearing loss. In order to potentially replicate previously reported associations between OM and PLG, exome and Sanger sequencing, RNA-sequencing of saliva and middle ear samples, 16S rRNA sequencing, molecular modeling, and statistical analyses including transmission disequilibrium tests (TDT) were performed in a multi-ethnic cohort of 718 families and simplex cases with OM. We identified four rare PLG variants c.

Novel Variants in Hearing Loss Genes and Associations With Audiometric Thresholds in a Multi-ethnic Cohort of US Patients With Cochlear Implants.

Objectives: To investigate novel variants in hearing loss genes and clinical factors affecting audiometric outcomes of cochlear implant (CI) patients.

Background: Approximately 50% of hearing loss has a genetic etiology, with certain genetic variants more prevalent in specific ethnic groups. Different variants and some clinical variables including inner ear malformations result in different prognoses or clinical outcomes after CI.

Behavioral Audiology Procedures in Children With Down Syndrome.

Purpose Normative data regarding behavioral audiologic testing procedures are based upon the general population and often do not apply to children with Down syndrome (DS). Testing children with DS can be challenging, and outcomes may be unreliable due to their different cognitive demands and delays. The aim of this study was to assess optimal audiologic testing procedures for specific age groups of children with DS.

Identification of Novel Genes and Biological Pathways That Overlap in Infectious and Nonallergic Diseases of the Upper and Lower Airways Using Network Analyses.

Previous genetic studies on susceptibility to otitis media and airway infections have focused on immune pathways acting within the local mucosal epithelium, and outside of allergic rhinitis and asthma, limited studies exist on the overlaps at the gene, pathway or network level between the upper and lower airways. In this report, we compared [1] pathways identified from network analysis using genes derived from published genome-wide family-based and association studies for otitis media, sinusitis, and lung phenotypes, to [2] pathways identified using differentially expressed genes from RNA-sequence data from lower airway, sinus, and middle ear tissues, in particular cholesteatoma tissue compared to middle ear mucosa. For otitis media, a large number of genes ( = 1,806) were identified as differentially expressed between cholesteatoma and middle ear mucosa, which in turn led to the identification of 68 pathways that are enriched in cholesteatoma.

A2ML1 and otitis media: novel variants, differential expression, and relevant pathways.

A genetic basis for otitis media is established, however, the role of rare variants in disease etiology is largely unknown. Previously a duplication variant within A2ML1 was identified as a significant risk factor for otitis media in an indigenous Filipino population and in US children. In this report exome and Sanger sequencing was performed using DNA samples from the indigenous Filipino population, Filipino cochlear implantees, US probands, Finnish, and Pakistani families with otitis media.

FUT2 Variants Confer Susceptibility to Familial Otitis Media.

Non-secretor status due to homozygosity for the common FUT2 variant c.461G>A (p.Trp154) is associated with either risk for autoimmune diseases or protection against viral diarrhea and HIV.

Generation of consensus in the application of a rating scale to nasendoscopic assessment of velopharyngeal function.

Objective: To generate consensus ratings of velopharyngeal function on nasendoscopy (NE) with the goal of creating a video instruction tool.

Methods: The American Society of Pediatric Otolaryngology Velopharyngeal Insufficiency Study Group convened to identify NE segments to be included in an instructional video. Of 24 segments reviewed, 11 were selected based on the quality of the examinations and spectrum of closure patterns.

Clinicopathological characteristics of extramedullary acute megakaryoblastic leukemia (AMKL): report of a case with initial mastoid presentation and review of literature to compare extramedullary AMKL and non-AMKL cases.

Extramedullary acute megakaryoblastic leukemia (AMKL) is a rare neoplasm with a varied clinical presentation. AMKL with initial mastoid presentation has never been reported. The extreme rarity of mastoid AMKL, together with the tendency of extramedullary AMKL to mimic other small blue cell tumors, can create a diagnostic challenge.

Pediatric cochlear implantation.

Purpose Of Review: To summarize the current state of cochlear implantation in children.

Recent Findings: Hearing loss profoundly impacts a child's ability to communicate and thereby affects educational and psychosocial development. The auditory cortex has sensitive periods during which it is maximally receptive to sound stimulus and consequent development.

Pediatric vocal fold paralysis after cardiac surgery: rate of recovery and sequelae.

Objective: To determine the rate of recovery of pediatric vocal fold paralysis (VFP) after cardiac surgery.

Study Design And Setting: Retrospective case series from January 2000 to 2005 at 4 tertiary care pediatric hospitals.

Results: A total of 109 children with VFP were identified.

Interrater and intrarater reliability in the evaluation of velopharyngeal insufficiency within a single institution.

Objective: To explore the interrater and intrarater reliability in nasoendoscopic assessment of velopharyngeal (VP) function using the standardized reporting method described by Golding-Kushner within a single institution.

Design: Prospective blinded study.

Setting: Academic, tertiary care, pediatric hospital.

Partial promontory technique in stapedotomy cases with narrow niche.

Objective: The objective of this study was to examine clinical and audiometric outcomes of a laser partial promontory technique in stapedotomy cases with a narrow oval window niche.

Study Design: We conducted a retrospective chart review.

Setting: This study was conducted at a tertiary referral center.

Prevention and correction of nasal tip bossae in rhinoplasty.

Objective: To describe our experiences with nasal tip bossae, suggest a standard nomenclature, discuss causative factors, and provide a comprehensive, analytic approach to the prevention and correction of bossae.

Background: Nasal tip bossae are knoblike protuberances of the alar cartilages that can arise after rhinoplasty. Early bossae are due to uncorrected or inadvertently created asymmetries, while late bossae are due to fibrosis and scar contracture acting on a weakened or unreconstituted cartilaginous framework.

The need for long-term audiologic follow-up of neonatal intensive care unit (NICU) graduates.

Objective: To evaluate the adequacy of newborn hearing screening in the identification of hearing loss in post-neonatal intensive care unit (NICU) infants.

Methods: Eighty-two post-NICU infants who had initially passed automated auditory brainstem response (AABR) screening were studied prospectively between November 1997 and July 1999. Tympanometry and transient evoked otoacoustic emissions (TEOAE) were used to evaluate middle ear status and screen the hearing of subjects when they were seen routinely in the Mary L.