Drug-Induced Sleep Endoscopy Findings in Children With Obstructive Sleep Apnea With vs Without Obesity or Down Syndrome.

Importance: Persistent obstructive sleep apnea after adenotonsillectomy is common in children with Down syndrome or obesity. Drug-induced sleep endoscopy could help to identify anatomic differences in these patients that might affect surgical decision-making. Objective: To assess drug-induced sleep endoscopy findings in surgically naive children with obstructive sleep apnea with obesity or Down syndrome and compare these findings with children without obesity or Down syndrome. Design, Setting, and Participants: This cross-sectional analysis of data from a prospective cohort study of patients enrolled between May 1, 2015, and December 31, 2019, was conducted at an academic tertiary care children's hospital and included a consecutive sample of surgically naive children (age 2-18 years) who underwent drug-induced sleep endoscopy at the time of adenotonsillectomy for sleep-disordered breathing. Indications for sleep endoscopy included severe sleep apnea, age older than 7 years, obesity, African American race, and Down syndrome. Exposures: Drug-induced sleep endoscopy. Main Outcomes and Measures: Sleep endoscopy findings were scored according to the Sleep Endoscopy Rating Scale. Ratings at 6 anatomic levels for children with obesity and those with Down syndrome were compared with controls without obesity or Down syndrome using several measures of effect size (Cohen d, Cramer V, and η2). Results: A total of 317 children (158 girls [50%]; 219 [69%] White, 20 [6%] Black, and 103 [34%] Hispanic; mean [95% CI] age, 9.6 [9.2-10.0] years) were included, of whom 115 (36%) were controls without obesity or Down syndrome, 179 (56%) had obesity without Down syndrome, and 23 (7%) had Down syndrome. The mean apnea-hypopnea index was 16 (95% CI, 13-19), and the mean minimum O2 saturation was 83% (95% CI, 81%-85%). Compared with controls without obesity or Down syndrome, children with Down syndrome demonstrated greater overall obstruction (mean sleep endoscopy rating scale total score of 5.6 vs 4.8; Cohen d, 0.46), and greater tonsillar (percentage of complete obstruction: 65% vs 54%), tongue base (percentage of complete obstruction: 26% vs 12%), and arytenoid obstruction (percentage of at least partial obstruction, 35% vs 6%). Children with obesity had greater tonsillar (percentage of complete obstruction, 74% vs 54%) and less base of tongue obstruction (percentage of complete obstruction, 2% vs 12%) compared with controls. Conclusions and Relevance: In this cohort study, surgically naive children with obesity with obstructive sleep apnea had predominantly tonsillar obstruction, whereas children with Down syndrome demonstrated greater obstruction of the tonsils, tongue base, and arytenoids compared with controls. Routine drug-induced sleep endoscopy should be considered in surgically naive children with Down syndrome to help inform the surgical plan.

Endoscopic ear surgery in children with down syndrome.

INTRODUCTION: Children with Down syndrome (DS) have a high incidence of chronic middle ear disease. Surgery to manage this disease is challenging due to the severity of illness and narrow ear canal dimensions. Endoscopic ear surgery is used to manage tympanic membrane and middle ear disease with the advantages of improved visualization and avoidance of post-auricular incisions. However, its application in children with DS has not been reported. We aim to compare the outcomes of endoscopic versus microscopic ear surgery in children with DS. METHODS: All patients with DS who underwent tympanoplasty without mastoidectomy between 2012 and 2018 were identified, and their charts retrospectively reviewed. Rate of residual perforation, hearing, surgical time, and surgical details were recorded. RESULTS: 37 surgeries in 26 patients were identified that met inclusion criteria. Two subgroups were analyzed. The first included 14 cases that were done using traditional microscopic visualization (MV). The second included 17 cases that had substantial or exclusive use of endoscopic visualization (EES). Due to a learning curve, the number of cases done endoscopically increased over time. The average age in MV was 13.9 years vs 11.0 in EES. The MV cases included 2 with cholesteatoma vs 4 in EES. In cases with adequate follow up, residual perforations were found in 1/13 MV, and 4/17 EES. All of the residual perforation cases in EES used acellular porcine submucosa grafts. None of the cases in MV used this material. Average air bone gap reduction was seen in both groups; 4.2 dB in MV, 9.8 dB in EES. Average surgical time was similar between groups; 124 min in MV, 115 min in EES. All cases in MV required a post-auricular incision and approach to the middle ear. Only four cases in EES required this approach. Six cases in EES did not require any incision outside of the ear canal for either graft harvest or middle ear approach. CONCLUSION: Endoscopic and microscopic ear surgery in children with DS have similar outcomes. There were no statistical differences in hearing results, surgical times, or residual tympanic membrane perforations, although the rate of perforations in the endoscopic group trended higher. Most endoscopic cases did not require conversion to a post-auricular approach. Endoscopic surgery allows some DS patients to avoid any incision outside of the ear canal.

Pediatric primary Sjögren syndrome presenting with bilateral ranulas: A case report and systematic review of the literature.

CONTEXT: Primary Sjögren syndrome is uncommon in children, and the standard clinical criteria used in diagnosis of adult Sjögren syndrome will miss many children with the disease. Floor of mouth ranulas have not been described in Sjögren syndrome. OBJECTIVE: This study aims to describe a novel presentation of juvenile primary Sjögren syndrome, and to present a comprehensive systematic review of the literature regarding the presentation and diagnosis of Sjögren syndrome in children. DATA SOURCES: Ovid MEDLINE. STUDY SELECTION: A MEDLINE literature search was performed using the following search terms: primary, Sjögren, disease, and children. Results were limited to human subjects and articles written in English between 1981 and 2014. Applicable articles were reviewed and qualitatively summarized. DATA EXTRACTION: Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines (PRIMA). RESULTS: Initial MEDLINE search yielded 146 articles, 80 of which were excluded as not clinically pertaining to Sjögren syndrome. An additional 25 were excluded due to lack of pediatric-specific data. Systematic review of the literature revealed no reports of ranula in association with Sjögren syndrome. 6 papers were manually included from review of reference lists of included articles. Our review indicated that recurrent parotitis is the most commonly reported presenting symptom in children, followed by ocular and oral symptoms, musculoskeletal, and renal symptoms. Compared to adults, children are less likely to present with dry eyes and mouth. LIMITATIONS: All studies were retrospective chart reviews, case series or case reports. CONCLUSION: This is the first report of a child presenting with floor of mouth ranulas in association with Sjögren syndrome. While recurrent parotitis is the most common presentation in children, other salivary gland and extra-salivary manifestations may be seen, and the clinician must maintain a high index of suspicion for underlying Sjögren syndrome.

Association of TMTC2 With Human Nonsyndromic Sensorineural Hearing Loss.

IMPORTANCE: Sensorineural hearing loss (SNHL) is commonly caused by conditions that affect cochlear structures or the auditory nerve, and the genes identified as causing SNHL to date only explain a fraction of the overall genetic risk for this debilitating disorder. It is likely that other genes and mutations also cause SNHL. OBJECTIVE: To identify a candidate gene that causes bilateral, symmetric, progressive SNHL in a large multigeneration family of Northern European descent. DESIGN, SETTING, AND PARTICIPANTS: In this prospective genotype and phenotype study performed from January 1, 2006, through April 1, 2016, a 6-generation family of Northern European descent with 19 individuals having reported early-onset hearing loss suggestive of an autosomal dominant inheritance were studied at a tertiary academic medical center. In addition, 179 unrelated adult individuals with SNHL and 186 adult individuals reporting nondeafness were examined. MAIN OUTCOMES AND MEASURES: Sensorineural hearing loss. RESULTS: Nine family members (5 women [55.6%]) provided clinical audiometric and medical records that documented hearing loss. The hearing loss is characterized as bilateral, symmetric, progressive SNHL that reached severe to profound loss in childhood. Audiometric configurations demonstrated a characteristic dip at 1000 to 2000 Hz. All affected family members wear hearing aids or have undergone cochlear implantation. Exome sequencing and linkage and association analyses identified a fully penetrant sequence variant (rs35725509) on chromosome 12q21 (logarithm of odds, 3.3) in the TMTC2 gene region that segregates with SNHL in this family. This gene explains the SNHL occurrence in this family. The variant is also associated with SNHL in a cohort of 363 unrelated individuals (179 patients with confirmed SNHL and 184 controls, P = 7 × 10-4). CONCLUSIONS AND RELEVANCE: A previously uncharacterized gene, TMTC2, has been identified as a candidate for causing progressive SNHL in humans. This finding identifies a novel locus that causes autosomal dominant SNHL and therefore a more detailed understanding of the genetic basis of SNHL. Because TMTC2 has not been previously reported to regulate auditory function, the discovery reveals a potentially new, uncharacterized mechanism of hearing loss.

Parent Perception of Newborn Hearing Screening: Results of a US National Survey.

IMPORTANCE: An unacceptably high number of children who do not pass universal newborn hearing screening (UNHS) are lost to follow-up. OBJECTIVES: To provide insight into parent recall of UNHS. DESIGN, SETTING, AND PARTICIPANTS: In this nationally representative cross-sectional survey, 2144 US parent households were surveyed in May 2012 using the Knowledge Panel. Responses of parents whose children were born before vs after UNHS implementation were compared. MAIN OUTCOMES AND MEASURES: Outcome measures included recall of hearing screen at birth, hearing screen results, and recommendations for follow-up. All outcome measures were based on parent recall and report. Descriptive statistics and multiple logistic regression analyses were used. RESULTS: The study participants included 1539 parent households and 605 nonparent households. Of the 1539 parent households surveyed, the mean age of the parents was 38.8 years (range, 18-88 years), the mean age of the children was 10.2 years (range, 0-17 years), and the mean age of children with hearing loss was 12.1 years (range, 0-17 years). A total of 1539 parents (55.8%) were women. Only 62.9% of parents (unweighted n = 950) recalled a newborn hearing screen, and among those children with risk indicators for hearing loss (n = 587), only 68.6% (unweighted n = 385) recalled a hearing screen. Higher parent educational level (odds ratio [OR], 2.27; 95% CI, 1.17-4.41, for some college and OR, 2.41; 95% CI, 1.22-4.78, for a bachelor's degree; P = .03), younger age of the child (OR, 1.16; 95% CI, 1.11-1.23; P < .001), and the presence of any risk indicator for hearing loss (OR, 1.5; 95% CI, 1.13-2.13; P = .007) were associated with parent recall of hearing screen. Reported pass rates were higher than expected. Parent recall of follow-up recommendations was not always consistent with guidelines. CONCLUSIONS AND RELEVANCE: Although this study is inherently limited by recall bias, the findings indicate a lack of parent awareness of UNHS. Changes in the system of reporting UNHS results are necessary to improve parent recall of screen results and improve follow-up for children who do not pass the screen.

Pediatric cervicofacial necrotizing fasciitis: a case report and review of a 10-year national pediatric database.

OBJECTIVE: To present a case of a pediatric cervicofacial necrotizing fasciitis (NF), a rapidly progressive infection, and a review of a 10-year pediatric inpatient database. DESIGN: Case report and review. SETTING: Pediatric intensive care unit. PATIENTS: A healthy 5-year-old male who developed NF of the lower lip 36 hours following minor trauma. International Classification of Diseases, Ninth Revision, code 728.86 (NF), was the inclusion criteria for the Kids' Inpatient Database (KID) in 1997 and 2006. RESULTS: A pediatric case is presented with a thorough photographic record demonstrating the need for rapid diagnosis and treatment. In a review of the KID from 1997 and 2006, the relative risk of being discharged with NF in 2006 vs 1997 was 1.4 (95% CI, 9.95-2.28). Age at diagnosis of NF was older in 2006 compared with 1997 (11.5 years vs 8.05 years; P < .001). Deaths with a diagnosis of NF increased from 1997 compared with 2006: from 3.9% to 5.4%. In 2006, the odds of death were 15.1 times higher in pediatric discharges with a diagnosis of NF compared with discharges without a diagnosis of NF (P < .001; 95% CI, 9.3-23.1). CONCLUSIONS: Even with the advent of new treatments and antibiotics, the incidence and death rates of NF have changed little over the past 10 years. While it is still a rare diagnosis, knowledge and awareness of necrotizing fasciitis with aggressive medical and surgical treatment are still the foundation in disease survival.

Extrapulmonary small cell carcinoma metastasis to the external auditory canal with facial nerve paralysis.

OBJECTIVES: The aim of the study was to present a case of small cell carcinoma arising from the tonsil with metastasis to the external auditory canal (EAC) and associated facial nerve paralysis. METHODS: This study includes a case report and review of the literature. CONCLUSIONS: Extrapulmonary small cell carcinoma from the head and neck is rarely described and carries a poor prognosis. It often presents with widely metastatic disease. To our knowledge, this is the first case report describing extrapulmonary small cell carcinoma from the tonsil with metastatic disease to the EAC. Irregular lesions in the EAC must be considered suspicious for metastasis in a patient with a history of cancer.

Vocal cord paralysis in children.

PURPOSE OF REVIEW: Vocal fold paralysis (VFP) is an increasingly commonly identified problem in the pediatric patient. Diagnostic and management techniques honed in adult laryngologic practice have been successfully applied to children. RECENT FINDINGS: Iatrogenic causes, including cardiothoracic procedures, remain a common cause of unilateral VFP. Neurologic disorders predominate in the cause of bilateral VFP. Diagnosis with electromyography is currently being evaluated in children. Treatment of VFP is centered around symptomology, which is commonly divided between voice and airway concerns. Speech therapy shows promise in older children. Surgical management for unilateral VFP with injection laryngoplasty is commonly performed and well tolerated. Laryngeal reinnervation is currently being applied to the pediatric population as a permanent treatment and offers several advantages over laryngeal framework procedures. For bilateral VFP, tracheotomy is still commonly performed. Glottic dilation procedures are performed both openly and endoscopically with a high degree of success. SUMMARY: VFP is a well recognized problem in pediatric patients with disordered voice and breathing. Some patients will spontaneously recover their laryngeal function. For those who do not, a variety of reliable techniques are available for rehabilitative treatment.