Management of Persistent, Post-adenotonsillectomy Obstructive Sleep Apnea in Children: An Official American Thoracic Society Clinical Practice Guideline.

Background: Obstructive sleep apnea (OSA) is the most common sleep-related breathing disorder. Although adenotonsillectomy is first-line management for pediatric OSA, up to 40% of children may have persistent OSA. This document provides an evidence-based clinical practice guideline on the management of children with persistent OSA. The target audience is clinicians, including physicians, dentists, and allied health professionals, caring for children with OSA. Methods: A multidisciplinary international panel of experts was convened to determine key unanswered questions regarding the management of persistent pediatric OSA. We conducted a systematic review of the relevant literature. The Grading of Recommendations, Assessment, Development, and Evaluation approach was used to rate the quality of evidence and the strength of the clinical recommendations. The panel members considered the strength of each recommendation and evaluated the benefits and risks of applying the intervention. In formulating the recommendations, the panel considered patient and caregiver values, the cost of care, and feasibility. Results: Recommendations were developed for six management options for persistent OSA. Conclusions: The panel developed recommendations for the management of persistent pediatric OSA based on limited evidence and expert opinion. Important areas for future research were identified for each recommendation.

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.

Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic CdLS and non-classic CdLS phenotypes, molecular investigations, long-term management and care planning.

Adenotonsillectomy for Snoring and Mild Sleep Apnea in Children: A Randomized Clinical Trial.

Importance: The utility of adenotonsillectomy in children who have habitual snoring without frequent obstructive breathing events (mild sleep-disordered breathing [SDB]) is unknown. Objectives: To evaluate early adenotonsillectomy compared with watchful waiting and supportive care (watchful waiting) on neurodevelopmental, behavioral, health, and polysomnographic outcomes in children with mild SDB. Design, Setting, and Participants: Randomized clinical trial enrolling 459 children aged 3 to 12.9 years with snoring and an obstructive apnea-hypopnea index (AHI) less than 3 enrolled at 7 US academic sleep centers from June 29, 2016, to February 1, 2021, and followed up for 12 months. Intervention: Participants were randomized 1:1 to either early adenotonsillectomy (n = 231) or watchful waiting (n = 228). Main Outcomes and Measures: The 2 primary outcomes were changes from baseline to 12 months for caregiver-reported Behavior Rating Inventory of Executive Function (BRIEF) Global Executive Composite (GEC) T score, a measure of executive function; and a computerized test of attention, the Go/No-go (GNG) test d-prime signal detection score, reflecting the probability of response to target vs nontarget stimuli. Twenty-two secondary outcomes included 12-month changes in neurodevelopmental, behavioral, quality of life, sleep, and health outcomes. Results: Of the 458 participants in the analyzed sample (231 adenotonsillectomy and 237 watchful waiting; mean age, 6.1 years; 230 female [50%]; 123 Black/African American [26.9%]; 75 Hispanic [16.3%]; median AHI, 0.5 [IQR, 0.2-1.1]), 394 children (86%) completed 12-month follow-up visits. There were no statistically significant differences in change from baseline between the 2 groups in executive function (BRIEF GEC T-scores: -3.1 for adenotonsillectomy vs -1.9 for watchful waiting; difference, -0.96 [95% CI, -2.66 to 0.74]) or attention (GNG d-prime scores: 0.2 for adenotonsillectomy vs 0.1 for watchful waiting; difference, 0.05 [95% CI, -0.18 to 0.27]) at 12 months. Behavioral problems, sleepiness, symptoms, and quality of life each improved more with adenotonsillectomy than with watchful waiting. Adenotonsillectomy was associated with a greater 12-month decline in systolic and diastolic blood pressure percentile levels (difference in changes, -9.02 [97% CI, -15.49 to -2.54] and -6.52 [97% CI, -11.59 to -1.45], respectively) and less progression of the AHI to greater than 3 events/h (1.3% of children in the adenotonsillectomy group compared with 13.2% in the watchful waiting group; difference, -11.2% [97% CI, -17.5% to -4.9%]). Six children (2.7%) experienced a serious adverse event associated with adenotonsillectomy. Conclusions: In children with mild SDB, adenotonsillectomy, compared with watchful waiting, did not significantly improve executive function or attention at 12 months. However, children with adenotonsillectomy had improved secondary outcomes, including behavior, symptoms, and quality of life and decreased blood pressure, at 12-month follow-up. Trial Registration: ClinicalTrials.gov Identifier: NCT02562040.

Protocol for a Prospective Observational Study of Revision Palatoplasty Versus Pharyngoplasty for Treatment of Velopharyngeal Insufficiency Following Cleft Palate Repair.

OBJECTIVE: To present the design and methodology for an actively enrolling comparative effectiveness study of revision palatoplasty versus pharyngoplasty for the treatment of velopharyngeal insufficiency (VPI). DESIGN: Prospective observational multicenter study. SETTING: Twelve hospitals across the United States and Canada. PARTICIPANTS: Individuals who are 3-23 years of age with a history of repaired cleft palate and a diagnosis of VPI, with a total enrollment target of 528 participants. INTERVENTIONS: Revision palatoplasty and pharyngoplasty (either pharyngeal flap or sphincter pharyngoplasty), as selected for each participant by their treatment team. MAIN OUTCOME MEASURE(S): The primary outcome is resolution of hypernasality, defined as the absence of consistent hypernasality as determined by blinded perceptual assessment of a standard speech sample recorded twelve months after surgery. The secondary outcome is incidence of new onset obstructive sleep apnea. Statistical analyses will use propensity score matching to control for demographics, medical history, preoperative severity of hypernasality, and preoperative imaging findings. RESULTS: Study recruitment began February 2021. As of September 2022, 148 participants are enrolled, and 78 have undergone VPI surgery. Enrollment is projected to continue into 2025. Collection of postoperative evaluations should be completed by the end of 2026, with dissemination of results soon thereafter. CONCLUSIONS: Patients with VPI following cleft palate repair are being actively enrolled at sites across the US and Canada into a prospective observational study evaluating surgical outcomes. This study will be the largest and most comprehensive study of VPI surgery outcomes to date.

Establishing a Clinical Protocol for Velopharyngeal MRI and Interpreting Imaging Findings.

Traditional imaging modalities used to assess velopharyngeal insufficiency (VPI) do not allow for direct visualization of underlying velopharyngeal (VP) structures and musculature which could impact surgical planning. This limitation can be overcome via structural magnetic resonance imaging (MRI), the only current imaging tool that provides direct visualization of salient VP structures. MRI has been used extensively in research; however, it has had limited clinical use. Factors that restrict clinical use of VP MRI include limited access to optimized VP MRI protocols and uncertainty regarding how to interpret VP MRI findings. The purpose of this paper is to outline a framework for establishing a novel VP MRI scan protocol and to detail the process of interpreting scans of the velopharynx at rest and during speech tasks. Additionally, this paper includes common scan parameters needed to allow for visualization of velopharynx and techniques for the elicitation of speech during scans.

Management of Live Insects in the External Auditory Canal: A Wilderness Perspective.

A live insect within the external auditory canal is an unpleasant possibility during wilderness recreation. To our knowledge, no study has attempted to quantify the risk of this event occurring in the wilderness. However, such events anecdotally seem to occur with some regularity in a variety of climates. Most cases are benign, but a small subset of patients can develop complications including infection, hearing loss, and vestibular complaints related to the foreign body. In the emergency department or clinic, removal of the insect is a simple procedure in most circumstances; however, the material and expertise required for backcountry removal of the insect are often limited. With this consideration in mind, we offer a conservative approach to backcountry insect removal based on a selective review of the published literature on this topic. Where published data are lacking, we make recommendations based on anecdotal experience of the authors dealing with this condition in austere environments and in the emergency department. We recommend insect removal only if the patient is acutely symptomatic and the insect is visualized and graspable with the instrument used for removal. In any other circumstance, intervention should be deferred until definitive care is reached because of risks of complications associated with removal, including infection, bleeding, and tympanic membrane damage.

The effect of in-lab polysomnography and home sleep polygraphy on sleep position.

PURPOSE: Little is known regarding the influence of in-laboratory polysomnography (PSG) equipment on sleep position, especially on the prevalence of supine positioning, which in many cases may lead to a more severe sleep apnea diagnosis. The aim of this study was to assess the percentage of supine sleep during an in-laboratory PSG compared to that seen during a home sleep apnea test (HSAT). METHODS: This was a retrospective cohort study comparing in-laboratory PSG and HSAT using a peripheral arterial tone (PAT) technology device. RESULTS: Of 445 PSG and 416 HSAT studies analyzed, there was no significant difference in the proportion of supine sleep time between PSG (44%) and HSAT (45%, p = 0.53). Analysis of the differences in sleep position (supine versus non-supine), analyzed by sex, BMI (≥ 30 kg/m2 versus < 30 kg/m2), and age (≥ 60 years versus < 60 years), was significant only for women, who had more supine sleep during HSAT at 61 ± 24% than during PSG at 45 ± 26% (p < 0.001). CONCLUSION: Overall there was no difference in the percentage of supine sleep when comparing in-laboratory PSG to HSAT. However, women had more supine sleep with HSAT than with PSG.

Outcomes of dexmedetomidine sedation for drug-induced sleep ciné magnetic resonance imaging studies in pediatric obstructive sleep apnea patients.

BACKGROUND: Dexmedetomidine is utilized as a sedative agent for drug-induced sleep cine magnetic resonance imaging studies due to its ability to mimic natural sleep and lack of respiratory depressant effects. The outcomes of dexmedetomidine sedation such as respiratory complications and unplanned admissions in obstructive sleep apnea patients undergoing these studies are currently unknown. AIM: To describe the outcomes of dexmedetomidine sedation for outpatient drug-induced sleep magnetic resonance imaging in pediatric patients with obstructive sleep apnea. METHODS: This is a retrospective chart review conducted in pediatric patients with obstructive sleep apnea undergoing outpatient drug-induced sleep ciné magnetic resonance imaging studies with dexmedetomidine sedation. Demographics, comorbidities, polysomnography study results, vital signs, respiratory complications, airway interventions, successful completion of the scan, and unplanned hospital admissions were measured. MAIN RESULTS: We analyzed 337 patients aged 2-18 years (median age of 11 years). The imaging was completed with dexmedetomidine as the sole sedative agent in 61% (N = 207) patients. Ketamine was administered as additional sedative agent in 36% (N = 122) of the patients. There was no difference in sedation-related adverse events and respiratory complications with regard to the severity of sleep apnea with the exception of mild desaturation episodes (SpO2 85%-90%). Patients who received additional sedative agents had significantly longer recovery room stay (71.5 [44] vs 55 [39] minutes; 95% CI of difference [9 to 23 min], p < 0.001) and total periprocedural stay (164.5 [52] vs 138 [64] minutes; 95% CI of difference [17 to 35 min], p < .001). CONCLUSIONS: Dexmedetomidine alone or along with ketamine provided acceptable sedation in majority of the patients with obstructive sleep apnea undergoing outpatient diagnostic sleep magnetic resonance imaging studies without significant respiratory adverse events regardless of the severity of sleep apnea. Sedation failure and unplanned admissions are rare, and routine planned admission may not be required for this patient population.

TLRs and RAGE are elevated in carotid plaques from patients with moderate-to-severe obstructive sleep apnea syndrome.

BACKGROUND: There is growing evidence that obstructive sleep apnea (OSA) promotes vascular endothelial dysfunction and atherogenesis. Pathways that mediate this pathology may include Toll-like receptors (TLRs) and receptor for advanced glycation end products (RAGE) which play a significant role in proinflammatory processes. The aim of this study was to measure the expression of the above-mentioned receptors in relation to OSA severity in carotid plaques obtained during open endarterectomy. METHODS: This prospective study included patients with a sleep study prior to surgery and a plaque specimen obtained during standard open endarterectomy. Immunohistochemistry of TLR2, TLR4, TLR7, TLR9, RAGE, HMGB1, and NF-κB was performed on atherosclerotic plaques from carotid arteries of patients with and without OSA. RESULTS: There were 46 patients (22 women, mean age 73.2 ± 1.3 years): 14 control patients, 13 with mild, 11 with moderate, and 8 with severe OSA. The expression of all TLRs and RAGE increased proportionately with increasing OSA severity. The largest differences between patients with severe OSA and no OSA were found for TLR2 (2.88 ± 0.35 vs. 1.27 ± 0.47, p < 0.001), TLR4 (2.88 ± 0.35 vs. 1.64 ± 0.5, p < 0.001), TLR9 (2.38 ± 0.52 vs. 1.45 ± 0.52, p < 0.01), and RAGE (2.5 ± 0.53 vs. 1.82 ± 0.6, p < 0.05). CONCLUSION: TLR2, TLR4, TLR9, and RAGE expression was significantly increased in carotid plaques of patients with moderate-to-severe OSA when compared with control patients with no OSA and those with mild OSA. TLR and RAGE-mediated pathways may play a significant role in OSA-dependent atherogenesis.

Effectiveness of pediatric drug-induced sleep endoscopy for REM-predominant obstructive sleep apnea.

STUDY OBJECTIVES: Because dexmedetomidine (DEX)-induced sedation mimics non-rapid eye movement (NREM) sleep, its utility in sedating children with REM-predominant disease is unclear. We sought to determine the effectiveness of pediatric drug-induced sleep endoscopy (DISE) using DEX and ketamine for children with REM-predominant OSA, specifically whether or not at least one site of obstruction could be identified. METHODS: A retrospective case series of children without tonsillar hypertrophy undergoing DISE at a tertiary pediatric hospital from 10/2013 through 9/2015 who underwent subsequent surgery to address OSA with polysomnography (PSG) before and after. RESULTS: We included 56 children, mean age 5.6±5.4 years, age range 0.1-17.4 years, mean BMI 20.3±7.4 kg/m2 (76±29 percentile). At least one site of obstruction was identified in all patients, regardless of REM- or NREM-predominance. The mean obstructive apnea-hypopnea index (oAHI) improved (12.6 ± 10.7 to 9.0 ± 14.0 events/h) in children with REM-predominant (P = 0.013) and NREM-predominant disease (21.3 ± 18.9 to 10.3 ± 16.2 events/h) (P = 0.008). The proportion of children with a postoperative oAHI < 5 was 53% and 55% for REM- and NREMpredominant OSA, respectively. Unlike children with NREM-predominant disease, children with REM-predominant disease had significant improvement in the mean saturation nadir (P < 0.001), total sleep time (P = 0.006), and sleep efficiency (P = 0.015). CONCLUSIONS: For children with OSA without tonsillar hypertrophy, DISE using DEX/ketamine was useful to predict at least one site of obstruction, even for those with REM-predominant OSA. DISE-directed outcomes resulted in significant improvements in mean oAHI, total sleep time, sleep efficiency, saturation nadir, and the proportion with oAHI < 5, after surgery for some children with REM-predominant disease.

Age-related changes in baroreflex sensitivity and cardiac autonomic tone in children mirrored by regional brain gray matter volume trajectories.

BackgroundThe baroreflex and central autonomic brain regions together control the cardiovascular system. Baroreflex sensitivity (BRS) decreases with age in adults. Age-related changes in brain regions for cardiovascular control in children are unknown. We studied age-related changes in BRS, cardiac autonomic tone, and gray matter volume (GMV) of brain regions associated with cardiovascular control.MethodsBeat-to-beat blood pressure and heart rate (HR) were recorded in 49 children (6-14 years old). Spontaneous BRS was calculated by the sequence method. Cardiac autonomic tone was measured by spectral analysis of HR variability. GMV was measured using voxel-based morphometryin 112 healthy children (5-18 years old).ResultsAge-related changes in BRS were significantly different in children <10 years and ≥10 years. Age-related changes in GMV in regions of interest (ROI) were also significantly different between children <10 and ≥10 years and between children <11 and ≥11 years. However, age-related changes in cardiac autonomic tone were progressive.ConclusionsSignificant changes in BRS trajectories between <10 and ≥10 years may be associated with similar age-related changes of GMV in brain ROI. This new knowledge will guide future studies examining whether childhood cardiovascular disruption manifests as deviated maturation trajectories of specific brain regions.

Magnetic resonance imaging of obstructive sleep apnea in children.

Sleep-disordered breathing has a spectrum of severity that spans from snoring and partial airway collapse with increased upper airway resistance, to complete upper airway obstruction with obstructive sleep apnea during sleeping. While snoring occurs in up to 20% of children, obstructive sleep apnea affects approximately 1-5% of children. The obstruction that occurs in obstructive sleep apnea is the result of the airway collapsing during sleep, which causes arousal and impairs restful sleep. Adenotonsillectomy is the first-line treatment of obstructive sleep apnea and is usually effective in otherwise healthy nonsyndromic children. However, there are subgroups in which this surgery is less effective. These subgroups include children with obesity, severe obstructive sleep apnea preoperatively, Down syndrome, craniofacial anomalies and polycystic ovarian disease. Continuous positive airway pressure (CPAP) is the first-line therapy for persistent obstructive sleep apnea despite previous adenotonsillectomy, but it is often poorly tolerated by children. When CPAP is not tolerated or preferred by the family, surgical options beyond adenotonsillectomy are discussed with the parent and child. Dynamic MRI of the airway provides a means to identify and localize the site or sites of obstruction for these children. In this review the authors address clinical indications for imaging, ideal team members to involve in an effective multidisciplinary program, basic anesthesia requirements, MRI protocol techniques and interpretation of the findings on MRI that help guide surgery.

Comparison of Postoperative Respiratory Monitoring by Acoustic and Transthoracic Impedance Technologies in Pediatric Patients at Risk of Respiratory Depression.

BACKGROUND: In children, postoperative respiratory rate (RR) monitoring by transthoracic impedance (TI), capnography, and manual counting has limitations. The rainbow acoustic monitor (RAM) measures continuous RR noninvasively by a different methodology. Our primary aim was to compare the degree of agreement and accuracy of RR measurements as determined by RAM and TI to that of manual counting. Secondary aims include tolerance and analysis of alarm events. METHODS: Sixty-two children (2-16 years old) were admitted after tonsillectomy or receiving postoperative patient/parental-controlled analgesia. RR was measured at regular intervals by RAM, TI, and manual count. Each TI or RAM alarm resulted in a clinical evaluation to categorize as a true or false alarm. To assess accuracy and degree of agreement of RR measured by RAM or TI compared with manual counting, a Bland-Altman analysis was utilized showing the average difference and the limits of agreement. Sensitivity and specificity of RR alarms by TI and RAM are presented. RESULTS: Fifty-eight posttonsillectomy children and 4 patient/parental-controlled analgesia users aged 6.5 ± 3.4 years and weighting 35.3 ± 22.7 kg (body mass index percentile 76.6 ± 30.8) were included. The average monitoring time per patient was 15.9 ± 4.8 hours. RAM was tolerated 87% of the total monitoring time. The manual RR count was significantly different from TI (P = .007) with an average difference ± SD of 1.39 ± 10.6 but were not significantly different from RAM (P = .81) with an average difference ± SD of 0.17 ± 6.8. The proportion of time when RR measurements differed by ≥4 breaths was 22% by TI and was 11% by RAM. Overall, 276 alarms were detected (mean alarms/patient = 4.5). The mean number of alarms per patient were 1.58 ± 2.49 and 2.87 ± 4.32 for RAM and TI, respectively. The mean number of false alarms was 0.18 ± 0.71 for RAM and 1.00 ± 2.78 for TI. The RAM was found to have 46.6% sensitivity (95% confidence interval [CI], 0.29-0.64), 95.9% specificity (95% CI, 0.90-1.00), 88.9% positive predictive value (95% CI, 0.73-1.00), and 72.1% negative predictive value (95% CI, 0.61-0.84), whereas the TI monitor had 68.5% sensitivity (95% CI, 0.53-0.84), 72.0% specificity (95% CI, 0.60-0.84), 59.0% positive (95% CI, 0.44-0.74), and 79.5% negative predictive value (95% CI, 0.69-0.90). CONCLUSIONS: In children at risk of postoperative respiratory depression, RR assessment by RAM was not different to manual counting. RAM was well tolerated, had a lower incidence of false alarms, and had better specificity and positive predictive value than TI. Rigorous evaluation of the negative predictive value is essential to determine the role of postoperative respiratory monitoring with RAM.

Comparison of the combination of dexmedetomidine and ketamine to propofol or propofol/sevoflurane for drug-induced sleep endoscopy in children.

AIM: Examination of dynamic airway collapse in patients with obstructive sleep apnea (OSA) during drug-induced sleep endoscopy (DISE) can help identify the anatomic causes of airway obstruction. We hypothesized that a combination of dexmedetomidine and ketamine (Group DK) would result in fewer oxygen desaturations and a higher successful completion rate during DISE in children with OSA when compared to propofol (Group P) or sevoflurane/propofol (Group SP). METHODS: In this retrospective study, we reviewed the records of 59 children who presented for DISE between October 2013 and March 2015. Data analyzed included demographics, OSA severity, and hemodynamics (heart rate and blood pressure). The primary outcomes were airway desaturation during DISE to <85% and successful completion of DISE; these were compared between the three groups: DK, P, and SP. RESULTS: Preoperative polysomnography was available for 49 patients. There were significantly more patients with severe OSA in Group P as compared to the other two groups. The mean (±sd) bolus dose for ketamine, dexmedetomidine, and propofol were 2.0 ± 0.6 mg·kg(-1) , 1.9 ± 0.9 mcg·kg(-1) , and 1.8 ± 1.1 mg·kg(-1) , respectively. The mean (±sd) infusion rate for dexmedetomidine was 1.6 ± 0.7 mcg·kg(-1) ·h(-1) and for propofol was 248 ± 68 mcg·kg(-1) ·min(-1) in Group P and 192 ± 48 mcg·kg(-1) ·min(-1) in Group SP. Patients in Group DK had significantly fewer desaturations to <85% during DISE compared to Group P. Patients in Group DK had significantly more successful completion of DISE (100% Group DK, 92% Group P, and 79% Group SP) as compared to Group SP. CONCLUSIONS: These results suggest that the described dose regimen of propofol used alone or in combination with sevoflurane appears to be associated with more oxygen desaturations and a lower rate of successful completion than a combination of dexmedetomidine and ketamine during DISE in children with OSA.

Trends in Inpatient Pediatric Polysomnography for Laryngomalacia and Craniofacial Anomalies.

OBJECTIVE: Increasingly, laryngomalacia and craniofacial anomalies are recognized as risk factors for obstructive sleep apnea. We sought to determine whether children with these diagnoses have become more likely to undergo inpatient polysomnogram (PSG) over time and to identify evolving trends in PSG utilization. METHODS: Retrospective analysis of the Kids' Inpatient Database from 2003 to 2012. Children <21 years who underwent PSG were included. Weighted comparisons of clinical/demographic characteristics of patients undergoing PSG were performed, as were associations between clinical and demographic patient characteristics and performance of inpatient PSG. RESULTS: Between 2003 and 2012, PSG procedures decreased from 1266 to 829 (P < .001). Among children who underwent PSG, mean age decreased from 3.9 ± 5.1 to 3.1 ± 5.2 years (P = .001), and the frequency of age <1 year increased from 47.8% to 59.5% (P < .001). The frequency of laryngomalacia increased from 2.5% to 14.3% (P < .001), while the frequency of craniofacial anomalies increased from 6.2% to 19.4% (P < .001). Laryngomalacia and craniofacial anomalies were predictive of undergoing inpatient PSG in both timeframes. CONCLUSION: Despite decreasing PSG volumes, diagnoses of laryngomalacia and craniofacial anomalies comprised increasing fractions of children undergoing inpatient PSG between 2003 and 2012. Laryngomalacia and craniofacial anomalies were also predictive of inpatient PSG use in both timeframes.

Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: abstracts from the 2014 Scientific and Educational Symposium.

Cornelia de Lange Syndrome (CdLS) is the most common example of disorders of the cohesin complex, or cohesinopathies. There are a myriad of clinical issues facing individuals with CdLS, particularly in the neurodevelopmental system, which also have implications for the parents and caretakers, involved professionals, therapists, and schools. Basic research in developmental and cell biology on cohesin is showing significant progress, with improved understanding of the mechanisms and the possibility of potential therapeutics. The following abstracts are presentations from the 6th Cornelia de Lange Syndrome Scientific and Educational Symposium, which took place on June 25-26, 2014, in conjunction with the Cornelia de Lange Syndrome Foundation National Meeting in Costa Mesa, CA. The Research Committee of the CdLS Foundation organizes the meeting, reviews and accepts abstracts, and subsequently disseminates the information to the families through members of the Clinical Advisory Board. In addition to the scientific and clinical discussions, there were educationally focused talks related to practical aspects of behavior and development. AMA CME credits were provided by Greater Baltimore Medical Center, Baltimore, MD.

Long-term parental satisfaction with adenotonsillectomy: a population study.

OBJECTIVE: This study reports the presence of sleep-disordered breathing (SDB) symptoms among first graders. We evaluated the severity of symptoms and parental satisfaction in children who had undergone adenotonsillectomy (T&A) compared to children who never had T&A. METHODS: A population-based, cross-sectional study was conducted. Parent-reported questionnaire data including age, weight, height, BMI, history of T&A, and SDB symptoms (snoring intensity, observed dyspneas, mouth breathing during sleep) were analyzed. RESULTS: Of 3580 eligible children, 2504 (69.9 %) returned questionnaires. Two hundred fifty-nine (10.3 %) children had a history of T&A. Within this group, 76 % of parents were still satisfied with their child's outcome after surgery. The satisfaction rate decreased from 88.9 % in those who had surgery within 1 year to 71.3 % in those who had surgery ≥3 years prior. The mean values of intensity for all analyzed SDB symptoms on a five-point scale were significantly higher for children who had ever undergone T&A when compared to those who never underwent surgery [e.g., snoring (2.11 vs 1.87; P = 0.0004), dyspneas (1.64 vs 1.22; P < 0.0001), and mouth breathing during sleep (2.95 vs 2.58; P < 0.0001)]. For those who had undergone T&A, 24 % of caregivers were not satisfied with the surgical outcome and the symptom intensity was highest (snoring = 3.16, dyspneas = 2.20, and mouth breathing = 4.23) for these children. CONCLUSIONS: The mean SDB symptom intensity was significantly higher in children who had undergone T&A when compared to those who had not. The elevated symptom intensity in those children whose caregivers were not satisfied after T&A suggests possible SDB recurrence and need for further evaluation.

Are nocturnal hypoxemia and hypercapnia associated with desaturation immediately after adenotonsillectomy?

BACKGROUND: Children who undergo adenotonsillectomy for sleep-disordered breathing frequently have postoperative oxygen desaturations. Nocturnal hypoxia has been shown to predict postoperative respiratory complications; however, other gas exchange abnormalities detected on polysomnography (PSG) have not been evaluated. AIM: We sought to determine whether hypercapnia seen on preoperative nocturnal PSG can predict postoperative hypoxemia. METHODS: We conducted a retrospective review of 319 children who underwent polysomnography before adenotonsillectomy. Saturation levels were recorded for at least 2 h postoperatively, and the primary outcome was desaturation (<90%). RESULTS: The median patient age was 5 years (range, 5 months-17 years). Patients who desaturated postoperatively had higher median peak endtidal CO2 (EtCO2 ) levels (55.5 vs 52 mmHg; P = 0.02), lower saturation nadirs (80.5% vs 88%; P = 0.048), and were younger (2 vs 6 years; P < 0.001) than those without desaturation. Age was significantly correlated with peak EtCO2 (r = -0.16), respiratory disturbance index (RDI; r = -0.23), and oxygen saturation nadir (r = 0.25; all P < 0.01). In unadjusted analysis, age <3 years compared to ≥9 years (odds ratio [OR] = 10.09; 95% confidence interval [CI] = 2.13-96.26), peak EtCO2  > 55 mmHg (OR = 3.38; 95% CI = 1.21-9.47), and RDI ≥ 10 (OR = 2.89; 95% CI = 1.05-8.42) were associated with increased odds of desaturation. Multivariable logistic regression on age, race, sex, peak EtCO2 , RDI, opioid use, and saturation nadir showed that only age was significantly associated with postoperative desaturation. Patients 0-2 years old were 10.43 (95% CI = 1.89-110.9) times more likely to have desaturation than patients 9-17 years old. CONCLUSION: Patients <3 years of age are most likely to have postoperative hypoxemia after adenotonsillectomy. Gas exchange abnormalities did not correlate with postoperative desaturations, although age and peak EtCO2 did strongly correlate.

Changing Patterns in Reflux Care: 10-Year Comparison of ABEA Members.

OBJECTIVES: To compare patterns of laryngopharyngeal reflux (LPR) diagnosis and management over time by American Broncho-Esophagological Association (ABEA) members. METHODS: American Broncho-Esophagological Association members completed an online questionnaire focused on LPR evaluation and management in 2012; responses were compared to a 2002 survey. RESULTS: Four hundred twenty-six members were emailed, of whom 63 (14.8%) responded. In both time periods, throat clearing, heartburn, globus, arytenoid edema, and erythema were considered highly related to LPR. Management in 2012 differed as respondents more commonly treated LPR empirically (82.6% vs 56.3%, P = .036). When adjunctive testing was ordered, dual pH probe were less frequently utilized in 2012 (61.5% vs 78.3%, P = .029). Either esophagogastroduodenoscopy (EGD) or transnasal esophagoscopy (TNE) was used more often in 2012 compared to EGD alone in 2002 (63.8% vs 42.4%, P = .020). Dual pH probe was regarded as the most sensitive and specific evaluation for LPR in both surveys, while the perceived sensitivity/specificity of EGD in 2012 was half that reported in 2002 (28.0% vs 56.3%, P = .003). CONCLUSION: Attitudes of ABEA members toward empiric treatment and adjunctive tests have changed between 2012 and 2002. While pH probe testing remains the test regarded as most sensitive/specific for evaluation of LPR, empiric management has become more common. Meanwhile, EGD use has increased despite a significant decrease in its perceived sensitivity/specificity.

Cornelia de Lange syndrome: further delineation of phenotype, cohesin biology and educational focus, 5th Biennial Scientific and Educational Symposium abstracts.

Cornelia de Lange syndrome (CdLS) is the prototype for the cohesinopathy disorders that have mutations in genes associated with the cohesin subunit in all cells. Roberts syndrome is the next most common cohesinopathy. In addition to the developmental implications of cohesin biology, there is much translational and basic research, with progress towards potential treatment for these conditions. Clinically, there are many issues in CdLS faced by the individual, parents and caretakers, professionals, and schools. The following abstracts are presentations from the 5th Cornelia de Lange Syndrome Scientific and Educational Symposium on June 20-21, 2012, in conjunction with the Cornelia de Lange Syndrome Foundation National Meeting, Lincolnshire, IL. The research committee of the CdLS Foundation organizes the meeting, reviews and accepts abstracts and subsequently disseminates the information to the families. In addition to the basic science and clinical discussions, there were educationally-focused talks related to practical aspects of management at home and in school. AMA CME credits were provided by Greater Baltimore Medical Center, Baltimore, MD.