Predictors of successful natural sleep MRI for sensorineural hearing loss in infants.

OBJECTIVES: Cochlear implantation (CI) in children with sensorineural hearing loss (SNHL) before 12 months of age (mo) improves language outcomes. MRI is important to assess CI candidacy. Anesthesia before 3 years old may increase risk of neurocognitive delay. Natural sleep MRI (NS-MRI) is an emerging technique to avoid anesthesia in infants, but relies on successful sleep for adequate imaging. Our multidisciplinary team hypothesized the following predictors of successful NS-MRI for CI evaluation: age, distance travelled, comorbidities, primary language, insurance type, HL characteristics, time and duration of MRI. METHODS: We performed retrospective review of children 0-12mo who attempted NS-MRI. The NS-MRI was successful if imaging was sufficient for definitive clinical management per the managing otolaryngologist. RESULTS: Among 26 patients (29 scans), the median age was 3.2mo (range: 1.2-6.8mo), distance travelled was 16.3 miles (range: 0.9 to 365 miles), 12 (46%) children had medical comorbidities. 8 (31%) had public insurance. 10 (38%) had bilateral HL. 52% (15/29) of scans were successful. Patients with comorbidities had significantly lower odds of successful NS-MRI (OR 0.09; 95% CI 0.01-0.54). Success was not associated with age, distance travelled, insurance type, primary language, HL characteristics, time or duration of MRI on univariable analysis. All 11 children who failed NS-MRI underwent hearing-aid fitting and/or imaging with sedation and CI as clinically indicated before 12mo. CONCLUSION: NS-MRI was successful in 52% of infants, regardless of age, demographics, HL or MRI characteristics. Unsuccessful NS-MRI did not result in delayed intervention. NS-MRI is an effective consideration for a broad range of infants with SNHL.

Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss.

Understanding racial and ethnic disparities in diagnostic rates of genetic testing is critical for health equity. We sought to understand the extent and cause of racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing (CGT) for sensorineural hearing loss (SNHL). We performed a retrospective cohort study at two tertiary children's hospitals on a diverse cohort of 240 consecutive pediatric patients (76% publicly insured, 82% non-White) with SNHL of unknown etiology who underwent CGT. Definite and possible genetic diagnoses were assigned for each patient, representing the likelihood of a genetic cause of hearing loss. Associations between diagnostic rates were examined. 3.8 ± 2.1 variants were detected per patient; this frequency did not vary between White/Asian and Hispanic/Black cohorts. Overall, 82% of variants were variants of uncertain significance (VUS). Compared with White and Asian subjects, variants identified among Hispanic and Black children were less likely to be classified as pathogenic/likely pathogenic (15% vs. 24%, p < 0.001), and Hispanic and Black children were less likely to have a definite genetic diagnosis (10% vs. 37%, p < 0.001). The adjusted odds ratio for definite genetic diagnosis in Black and Hispanic children compared with White and Asian children was 0.19. Expanding genetic diagnostic criteria to include predicted deleterious VUSs reduced these disparities between White/Asian and Hispanic/Black children, with comparable molecular diagnostic rates (41% vs. 38%, p = 0.72). However, in silico predictions are insufficiently valid for clinical use. Increased inclusion of underrepresented groups in genetic hearing-loss studies to clinically validate these variants is necessary to reduce racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing.

Efficacy of endoscopic sinus surgery alone versus in combination with neurosurgical intervention for the treatment of pediatric subdural empyema.

OBJECTIVES: To compare treatment outcomes for sinogenic subdural empyema (SE) between those managed with initial endoscopic sinus surgery (ESS) alone versus those treated with a combination of ESS and craniotomy over the last decade at our institution. To better characterize subdural empyema with regard to presentation, causative pathogens, and treatment course. METHODS: Retrospective single-center chart review to identify and evaluate pediatric SE patients between 2009 and 2019. Patients meeting inclusion criteria were classified in one of two groups: those who initially underwent ESS or frontal trephination without concurrent neurosurgical procedure and those who underwent craniotomy or burr hole in addition to a sinus procedure. Presenting characteristics and treatment outcomes were compared between the two groups. RESULTS: Eighteen patients met inclusion criteria. The ESS alone and the ESS + craniotomy subgroups each had 9 patients with similar baseline characteristics. The ESS + craniotomy group was more likely to present with neurological symptoms (p = 0.039) and have multiple intracranial fluid collections (p = 0.046). 74.1% of patients presented to the Emergency Department (ED) or to their primary medical doctor and were treated with outpatient management prior to hospitalization with definitive surgical management. The most common presenting symptoms were fever, headache and nausea/vomiting. There were no differences between treatment groups in rate of return to the operating room (OR) (p = 1.00), length of stay (LOS) (p = 0.553), or adverse neurological outcomes (p = 0.456). 44.4% of patients in the ESS alone group eventually required neurosurgical intervention. CONCLUSIONS: Surgical SE patients often present to medical professionals in the primary care setting or ED and are managed with outpatient treatment before admission with definitive treatment. In this small retrospective cohort patients who underwent sinus intervention alone had similar rates of return to OR, LOS and adverse neurological outcomes use as those who underwent a sinus procedure in coordination with a neurosurgical intervention. There may be a group of patients with SE who may be managed with endoscopic procedures alone and further studies should seek to determine the characteristics of this population.

Genetic Testing Leading to Early Identification of Childhood Ocular Manifestations of Usher Syndrome.

OBJECTIVES: Hearing-loss gene panel testing (HLGPT) is increasingly accessible as a first-line test in determining the etiology of sensorineural hearing loss (SNHL) in children. A major advantage of HLGPT is early identification of syndromic forms of SNHL, especially Usher syndrome, prior to the development of overt syndromic phenotype, which may impact management and counseling. Here, we describe early ocular findings in children with clinically non-syndromic SNHL identified by HLGPT as having two variants associated with Usher Syndrome. METHODS: A total of 184 children, ages 1 month - 15 years of age, evaluated at one tertiary pediatric children's hospital for clinically non-syndromic SNHL, underwent next-generation sequencing of 150 genes involved in hearing loss. Children with two variants in genes associated with Usher syndrome were referred for evaluation by pediatric ophthalmology. RESULTS: A total of 18/184 tested children had two variants in Usher syndrome-associated genes, including MYO7A, GPR98 (ADGRV1), USH2A, and PDZD7. SNHL varied from moderate to profound. 29% of the children who underwent clinical ophthalmology evaluation were found to have previously unidentified retinal abnormalities on retinal imaging or electroretinography consistent with inherited retinal degeneration. CONCLUSION: Among this ethnically and racially diverse pediatric population with apparently non-syndromic SNHL, HLGPT yielded a high proportion (10%) of children with two variants in genes associated with Usher syndrome. Early genetic testing allows early identification of variants conferring a diagnosis of Usher syndrome at a stage prior to visual symptoms. This allows for more informed genetic counseling, reproductive planning, and sensory deficit interventions. LEVEL OF EVIDENCE: 4 Laryngoscope, 131:E2053-E2059, 2021.

Variability of Paranasal Sinus Pneumatization in the Absence of Sinus Disease.

Background: Paranasal sinus pneumatization is a complex process, and numerous computed tomography (CT) studies document developmental variations in the setting of underlying sinus disease. The purpose of this study was to investigate variation in paranasal sinus pneumatization in a population of nondiseased subjects using a metric validated for tracking individual anatomic variants as well as total sinus volume. Methods: A total of 591 consecutive sinus and maxillofacial CT scans were considered for study inclusion. After patients with inflammatory sinus or respiratory disease were excluded, 323 CT scans were scored using the Assessment of Pneumatization of the Paranasal Sinuses (APPS) instrument, and relevant demographic data were recorded for each scan. APPS findings were compared according to demographic characteristics and laterality. Results: Laterality and sex were associated with differences in paranasal sinus pneumatization in a nondiseased population. Based on APPS score, the left side (4.95) was more pneumatized than the right (4.74, P=0.006), and males (10.16) were more extensively pneumatized than females (9.18, P=0.005). We found no correlation of age with sinus pneumatization (ρ=0.025). The probability of perceptible asymmetry in any given individual's paranasal sinus pneumatization was 69%, and the probability of left-sided dominance was 53%. Conclusion: Substantial anatomic variation exists in paranasal sinus anatomy, even among patients without sinus disease. Significant differences are found between males and females and between the left and right sides. Continued systematic research of paranasal sinus anatomy may facilitate a standard for CT sinus assessment that will aid clinician evaluation of anatomic variation and surgical decision making.

The Unified Airway: Does Asthma Influence Paranasal Sinus Pneumatization?

Asthma has been implicated as a driving force in lower airway remodeling; however, its effect on upper airway development has not been studied. Clinical disease, particularly cystic fibrosis (CF), has been associated with anatomical paranasal sinus variation, although the mechanism for these variations remains unclear. The purpose of this study was to determine whether asthma is associated with altered sinus pneumatization. Five hundred ninety-one computed tomography scans, including 303 adolescents (age 13-18) and 288 adults (age > 18), were evaluated using the Assessment of Pneumatization of the Paranasal Sinuses (APPS) instrument. The APPS score is validated for assessing anatomical variation and total sinus volume. A diagnosis of asthma was ascertained from the medical record, and patients with CF were included as a positive control group. Patients with asthma had mean APPS score of 9.66, compared to 9.85 for participants without asthma (P = .585). Subgroup analysis demonstrated similar findings among adults (P = .817) and adolescents (P = .585). Patients with a diagnosis of CF had significant sinus hypoplasia according to a mean APPS scores of 3.50 (P < .001). Sinus hypoplasia persisted in both adults (P < .001) and adolescents (P < .001) with CF. The presence of asthma is not associated with altered paranasal sinus pneumatization. In contrast, CF is associated with significantly reduced sinus pneumatization. These findings suggest that aberrant sinus pneumatization may not be a feature of asthma and that chronic mucosal respiratory disease is not a generalizable cause for altered paranasal sinus pneumatization.

Utility of polysomnography in determination of laryngomalacia severity.

OBJECTIVE: To examine the efficacy of polysomnography in determining the severity of laryngomalacia in pediatric patients. METHODS: Prospective cohort study. Pediatric patients referred to our pediatric otolaryngology department with a polysomnogram already performed for a presumptive diagnosis of laryngomalacia were enrolled in the study. Patients with concurrent airway lesions or neuromuscular disorders were excluded. Patients underwent history, physical exam, and flexible fiberoptic laryngoscopy. These results were used to calculate a total laryngomalacia severity score. RESULTS: 25 pediatric patients (n = 25) with an average age of 3.9 months at time of initial evaluation met criteria for enrollment in our study. 100% of patients had obstructive sleep apnea by definition. 80% of these patients underwent supraglottoplasty. The average AHI of those who underwent surgery (57.26) was not significantly different in those who underwent surgery vs. those that did not (55.43) (p = 0.41). In comparison, the average laryngomalacia severity score based from history, physical exam and flexible laryngoscopy was significantly greater in the patients that required supraglottoplasty (11.16) vs. those who did not (5.33) (p = 0.03). In addition a higher laryngomalacia severity score was not correlated with a higher AHI (p = 0.81, r = 0.08, CI: -0.5197 to 0.6235). CONCLUSION: In our cohort, polysomnography was not useful in determining the severity of laryngomalacia, did not correlate with the clinical evaluation, and alone was not predictive of the patients that would require surgical intervention. History, physical exam, and endoscopic findings remain reliable predictors of disease severity and need for operative intervention.

Efficacy of a Human Papillomavirus Vaccination Educational Platform in a Diverse Urban Population.

IMPORTANCE: Human papillomavirus (HPV) is a preventable disease that plays a causative role in a significant proportion of malignant neoplasms of the head and neck. Inner-city populations are at risk for HPV-related oropharyngeal cancer, are least likely to receive HPV vaccination, and report a lack of information regarding HPV. OBJECTIVE: To determine whether an educational platform affects knowledge, attitudes, and practices regarding HPV vaccination in an inner-city community. DESIGN, SETTING, AND PARTICIPANTS: This prospective cohort study, conducted from March 1 to December 31, 2014, surveyed 128 participants at multiple inner-city community centers regarding their knowledge of, attitudes toward, and practices regarding HPV vaccination before and after a brief educational presentation. No eligible individuals refused to participate in the educational session. Surveys were excluded from analysis if they were incomplete. INTERVENTIONS: Participants completed two 20-question surveys separated by a 15-minute educational session on HPV-related disease, including a short PowerPoint presentation. MAIN OUTCOMES AND MEASURES: Presence of statistically significant differences in survey scores before and after the educational session. RESULTS: Eighty-six participants met eligibility criteria (61 male [70.9%]; 68 with a high school education [79.1%]). Baseline knowledge of HPV, its causal association with cancer, and the existence of a vaccine against HPV were poor: of a total composite score of 20, the mean knowledge score before the educational session was 9.69. Participants' self-rated knowledge regarding HPV disease and vaccination improved significantly as a result of the educational session; the absolute increase in mean knowledge composite score from before the educational session to after the session was 3.52 (17.6%) (95% CI, -2.87 to 9.92; P < .01). Attitudes regarding government involvement in vaccination did not change as a result of the educational session (composite attitudes score before the educational session, 16.57 of 28; score after the session, 15.22; P = .98). Participants' intent to vaccinate their children increased significantly following the educational presentation: before the presentation, 34 respondents (40%) intended to have their children vaccinated; after the presentation, 60 (70%) intended to do so (P = .002). CONCLUSIONS AND RELEVANCE: Lack of knowledge regarding HPV vaccination and unwillingness to undergo vaccination contribute to low rates of HPV vaccination within urban populations. Community-based educational sessions successfully teach the link between HPV and various cancers, provide information regarding the risks and benefits of vaccination, and increase participants' willingness to vaccinate their children against HPV. Attitudes regarding government involvement in health programs are resistant to change.

Assessment of pneumatization of the paranasal sinuses: a comprehensive and validated metric.

BACKGROUND: The purpose of this study was to develop and validate a radiographic metric for characterizing the degree of paranasal sinus pneumatization. A validated metric for the extent of sinus pneumatization that comprehensively includes the maxillary, ethmoid, frontal, and sphenoid cavities is not currently available. METHODS: A validation study was performed in which 5 independent reviewers evaluated 49 sinus computed tomography (CT) scans in coronal, sagittal, and axial orientations. Reviewers evaluated each scan, bilaterally, for 18 proposed dichotomous items as part of the Assessment of Pneumatization of the Paranasal Sinuses (APPS) metric. Evaluation of APPS items was independent of sinus opacification, which was simultaneously evaluated using the standard and validated Lund-Mackay scoring system. Interrater and intrarater reliability was assessed for each proposed APPS parameter and Lund-Mackay item using Fleiss kappa statistic. RESULTS: Nine parameters were included in the final APPS metric due to substantial interrater reliability (κ(mean) = 0.61, κ(range) = 0.41-0.81) and intrarater consistency (κ(mean) = 0.64, κ(range) = 0.53-0.77), variable radiographic presence, and unique contribution to the characterization of sinus pneumatization. Kappa values were also calculated for Lund-Mackay interrater reliability (κ(mean) = 0.58, κ(range) = 0.45-0.66) and intrarater consistency (κ(mean) = 0.71, κ(range) = 0.65-0.75). The final APPS metric has comparable interrater and intrarater reliability to Lund-Mackay scoring. APPS scores were normally distributed within the study group by Anderson-Darling normality test (p < 0.005). CONCLUSION: The APPS score is the first comprehensive and validated metric for quantifying the degree of paranasal sinus pneumatization and anatomic variation. This has important potential utility in standardizing evaluation of sinus CT and researching the relationship of sinus pneumatization with clinical parameters.