Variants in Genes Associated with Hearing Loss in Children: Prevalence in a Large Canadian Cohort.

OBJECTIVE: The objective of this study was to assess the prevalence of genetic variants associated with hearing loss in a large cohort of children in Canada using high throughput next generation sequencing (NGS). METHODS: A total of 485 children with hearing loss underwent NGS testing with an 80 gene panel of syndromic and non-syndromic variants known to be associated with hearing loss. Genetic variants were classified as pathogenic, likely pathogenic, likely benign, benign, or variants of uncertain significance (VUS), according to the American College of Medical Genetics and Genomics guidelines. RESULTS: Across the 80 genes tested, 923 variants, predominantly in 28 genes, were identified in 324 children. Pathogenic variants occurred in 19/80 (23.8%) of the hearing loss related genes tested and confirmed the etiology of hearing loss in 73/485 (15.1%) of children. GJB2 was the most prevalent gene, affecting 28/73 (38.4%) children with confirmed genetic hearing loss in our cohort. Most identified variants (748/923, 81.0%, in 76/80 genes) were of uncertain significance. CONCLUSION: Genetic testing using NGS identified the etiology in approximately 15% of childhood hearing loss in a Canadian cohort which is lower than what is typically reported. GJB2 was the most common genetic cause of hearing loss. VUS are commonly identified, presenting clinical challenges for counseling. LEVEL OF EVIDENCE: 4 Laryngoscope, 134:3832-3838, 2024.

Exposure to Spoken Communication During the COVID-19 Pandemic Among Children With Cochlear Implants.

Importance: School closures and other COVID-19-related restrictions could decrease children's exposure to speech during important stages of development. Objective: To assess whether significant decreases in exposure to spoken communication found during the initial phase of the COVID-19 pandemic among children using cochlear implants are confirmed for a larger cohort of children and were sustained over the first years of the COVID-19 pandemic. Design, Setting, and Participants: This cohort study used datalogs collected from children with cochlear implants during clinical visits to a tertiary pediatric hospital in Toronto, Ontario, Canada, from January 1, 2018, to November 11, 2021. Children with severe to profound hearing loss using cochlear implants were studied because their devices monitored and cataloged levels and types of sounds during hourly use per day (datalogs) and because their hearing and spoken language development was particularly vulnerable to reduced sound exposure. Statistical analyses were conducted between January 2022 and August 2023. Main Outcomes and Measures: Daily hours of sound were captured by the cochlear implant datalogging system and categorized into 6 auditory scene categories, including speech and speech-in-noise. Time exposed to speech was calculated as the sum of daily hours in speech and daily hours in speech-in-noise. Residual hearing in the ear without an implant of children with unilateral cochlear implants was measured by pure tone audiometry. Mixed-model regression analyses revealed main effects with post hoc adjustment of 95% CIs using the Satterthwaite method. Results: Datalogs (n = 2746) from 262 children (137 with simultaneous bilateral cochlear implants [74 boys (54.0%); mean (SD) age, 5.8 (3.5 years)], 38 with sequential bilateral cochlear implants [24 boys (63.2%); mean (SD) age, 9.1 (4.2) years], and 87 with unilateral cochlear implants [40 boys (46.0%); mean (SD) age, 7.9 (4.6) years]) who were preschool aged (n = 103) and school aged (n = 159) before the COVID-19 pandemic were included in analyses. There was a slight increase in use among preschool-aged bilateral cochlear implant users through the pandemic (early pandemic, 1.4 h/d [95% CI, 0.3-2.5 h/d]; late pandemic, 2.3 h/d [95% CI, 0.6-4.0 h/d]) and little change in use among school-aged bilateral cochlear implant users (early pandemic, -0.6 h/d [95% CI, -1.1 to -0.05 h/d]; late pandemic, -0.3 h/d [95% CI, -0.9 to 0.4 h/d]). However, use decreased during the late pandemic period among school-aged children with unilateral cochlear implants (-1.8 h/d [95% CI,-3.0 to -0.6 h/d]), particularly among children with good residual hearing in the ear without an implant. Prior to the pandemic, children were exposed to speech for approximately 50% of the time they used their cochlear implants (preschool-aged children: bilateral cochlear implants, 46.6% [95% CI, 46.5%-47.2%] and unilateral cochlear implants, 52.1% [95% CI, 50.7%-53.5%]; school-aged children: bilateral cochlear implants, 47.6% [95% CI, 46.8%-48.4%] and unilateral cochlear implants, 51.0% [95% CI, 49.4%-52.6%]). School-aged children in both groups experienced significantly decreased speech exposure in the early pandemic period (bilateral cochlear implants, -12.1% [-14.6% to -9.4%]; unilateral cochlear implants, -15.5% [-20.4% to -10.7%]) and late pandemic periods (bilateral cochlear implants, -5.3% [-8.0% to -2.6%]; unilateral cochlear implants, -11.2% [-15.3% to -7.1%]) compared with the prepandemic baseline. Conclusions and Relevance: This cohort study using datalogs from children using cochlear implants suggests that a sustained reduction in children's access to spoken communication was found during more than 2 years of COVID-19 pandemic-related lockdowns and school closures.

Gender Differences in North American and International Otolaryngology Clinical Practice Guideline Authorship: A 17-Year Analysis.

OBJECTIVE: To analyze gender differences in authorship of North American (Canadian and American) and international published otolaryngology-head and neck surgery (OHNS) clinical practice guidelines (CPG) over a 17-year period. METHODS: Clinical practice guidelines published between 2005 and 2022 were identified through the Canadian Agency for Drugs and Technology in Health (CADTH) search strategy in MEDLINE and EMBASE. Studies were included if they were original studies, published in the English language, and encompassed Canadian, American, or international OHNS clinical practice guidelines. RESULTS: A total of 145 guidelines were identified, encompassing 661 female authors (27.4%) and 1756 male authors (72.7%). Among OHNS authors, women and men accounted for 21.2% and 78.8% of authors, respectively. Women who were involved in guideline authorship were 31.0% less likely to be an otolaryngologist compared to men. There were no gender differences across first or senior author and by subspeciality. Female otolaryngologist representation was the greatest in rhinology (28.3%) and pediatrics (26.7%). American guidelines had the greatest proportion of female authors per guideline (34.1%) and the greatest number of unique female authors (33.2%). CONCLUSION: Despite the increasing representation of women in OHNS, gender gaps exist with regards to authorship within clinical practice guidelines. Greater gender diversity and transparency is required within guideline authorship to help achieve equitable gender representation and the development of balanced guidelines with a variety of viewpoints.

Fusion Extension Leads to Spontaneous Resolution of Symptomatic Disc Herniations Associated With Proximal Junctional Kyphosis: A Report of 3 Cases.

CASES: A retrospective chart and radiographic review was performed of 3 patients presenting with neurological deficits secondary to soft thoracic disc herniation associated with proximal junctional kyphosis. The patients were treated with proximal extension of the construct, correction of the focal sagittal malalignment, and posterior decompressive laminectomy without excision of the herniated disc. All 3 patients made complete neurological recovery and subsequent magnetic resonance imaging showed resolution of the herniated discs. CONCLUSIONS: Laminectomy in conjunction with proximal extension of the construct without formal thoracic discectomy was associated with complete neurological recovery and spontaneous resolution of soft thoracic disc herniations associated with junctional failures.

Evaluation of Methods of Breast or Bottle Feeding on Length of Hospitalization of Preterm Infants.

Background: Direct breastfeeding is the optimal method of nourishing preterm infants. Preconceived notions exist among health practitioners that establishment of direct breastfeeding lengthens hospitalization. Thus far, the aforementioned association remains unknown. Research Aim: The objective of this study was to assess the impact of direct breastfeeding establishment on length of hospital stay in preterm infants. Methods: A retrospective chart review on a sample of 101 mother-infant dyads was conducted in the neonatal intensive care unit at Kingston Health Sciences Center (KHSC) in Ontario, Canada. The sample consisted of three groups: (1) modified direct breastfeeding group, defined as infants receiving ≥50% direct breastfeeds during hospitalization, (2) partial breastfeeding group, defined as infants receiving <50% breastfeeds during hospitalization, and (3) bottle feeding group, defined as infants only receiving bottle feeds during hospitalization. A multiple linear regression model was performed to assess the relationship between length of hospitalization and method of oral feeds (modified direct breastfeeds vs. partial breastfeeds vs. bottle feeds) while controlling for infant (gestational age [GA], birth weight, 5 minutes Apgar score, ventilator support) and maternal (age, first-time mother, mental health conditions) factors. Results: GA was inversely associated with length of hospitalization. The number of days on ventilator support was positively associated with length of hospitalization. Method of oral feed, birth weight, 5 minutes Apgar score, maternal age, first-time mother status, and maternal mental health conditions were not associated with duration of hospitalization. Conclusions: Direct breastfeeding establishment does not lengthen hospitalization in preterm infants. This finding may aid health practitioners in increasing direct breastfeeding success in this population.

Enhancing breastfeeding establishment in preterm infants: A randomized clinical trial of two non-nutritive sucking approaches.

BACKGROUND: Preterm infants and their mothers face many barriers to the establishment of exclusive breastfeeding in the neonatal intensive care unit. OBJECTIVE: The objective of this study was to assess and compare the effect of maternally administered non-nutritive sucking (NNS) on an emptied breast versus a pacifier on exclusive breastfeeding establishment at hospital discharge. STUDY DESIGN: A block randomized study design was performed. TRIAL REGISTRATION NUMBER: NCT03434743. METHODS: A total of 33 preterm infants born less than or equal to 34 weeks gestation participated in the study. The NNS on an emptied breast or pacifier interventions were administered by mothers, once a day for 15 min. Outcomes included: exclusive breastfeeding acquisition, described as infants who received greater than or equal to 50% of direct breastfeeds at hospital discharge; time to achieve independent oral feeding, defined as the number of days to transition from complete tube feeds to full oral feeds (full breast, partial breast/bottle, or full bottle); length of hospitalization, described as the number of days from admission to hospital discharge. RESULTS: A significantly greater number of infants in the NNS emptied breast group acquired exclusive breastfeeds at hospital discharge as compared with those in the NNS pacifier group (63% vs. 24%, p = 0.037). There was no difference between groups in time to achieve independent oral feeds (14.4 ± 8.0 vs. 14.4 ± 6.4 days, p = 0.683) and length of hospital stay (48.7 ± 33.7 vs. 53.1 ± 30.6 days, p = 0.595). CONCLUSION: Provision of NNS on an emptied breast is a safe and low-cost infant and mother targeted intervention which can increase exclusive breastfeeding rates and its well-recognized advantages in a highly vulnerable population.