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.
Objective
We aimed to determine the preoperative prevalence of insomnia in the Adherence and Outcomes of Upper Airway Stimulation for OSA International Registry (ADHERE) and to examine serial ...sleep‐related data longitudinally, in particular the Insomnia Severity Index (ISI), to compare outcomes between patients with no/subthreshold insomnia (ISI < 15) and moderate/severe insomnia (ISI ≥ 15) at baseline.
Methods
We analyzed observational data from ADHERE between March 2020 and September 2022. Baseline demographic and mental health (MH) data, apnea hypopnea index (AHI), ISI, and ESS (Epworth Sleepiness Scale) were recorded. At post‐titration (PT) and final visits, AHI, ISI, ESS and nightly usage were compared between baseline ISI < 15 and ISI ≥ 15 subgroups.
Results
A baseline ISI was obtained in 928 patients (62% with ISI ≥ 15). Of the 578 and 141 patients reaching the 12‐ and 24‐month time periods to complete PT and final visits, 292 (50.5%) and 91 (64.5%) completed the ISI, respectively. Baseline MH conditions were higher with ISI ≥ 15 than ISI < 15 (p < 0.001). AHI reduction and adherence did not differ between patients with baseline ISI ≥ 15 and ISI < 15. Patients with ISI ≥ 15 experienced greater improvement in ESS than ISI < 15 at post‐titration and final visits (p = 0.014, 0.025). All patients had improved nocturnal, daytime, and overall ISI scores at follow‐up visits (p < 0.001), especially for those with baseline ISI ≥ 15 compared with ISI < 15 (p < 0.05).
Conclusion
HGNS therapy efficacy and adherence were similar between ISI severity subgroups at follow‐up visits. Insomnia and sleepiness scores improved in all patients with HGNS therapy and to a greater degree in patients with baseline moderate/severe insomnia.
Level of Evidence
4 Laryngoscope, 134:471–479, 2024
Objectives
Drug‐induced sleep endoscopy (DISE) involves assessment of the upper airway using a flexible endoscope while patients are in a pharmacologically‐induced sleep‐like state. The aim of this ...article is to review the current literature regarding the role of DISE in children with obstructive sleep apnea (OSA). The indications, typical anesthetic protocol, comparison to other diagnostic modalities, scoring systems, and outcomes are discussed.
Methods
A comprehensive review of literature regarding pediatric DISE up through May 2017 was performed.
Results
DISE provides a thorough evaluation of sites of obstruction during sedation. It is typically indicated for children with persistent OSA after tonsillectomy, those with OSA without tonsillar hypertrophy, children with risk factors predisposing then to multiple sites of obstruction, or when sleep‐state dependent laryngomalacia is suspected. The dexmedotomidine and ketamine protocol, which replicates non‐REM sleep, appears to be safe and is often used for pediatric DISE, although propofol is the most commonly employed agent for DISE in adults. Six different scoring systems (VOTE, SERS, Chan, Bachar, Fishman, Boudewyns) have been used to report pediatric DISE findings, but none is universally accepted.
Conclusions
DISE is a safe and useful technique to assess levels of obstruction in children. There is currently no universally‐accepted anesthetic protocol or scoring system for pediatric DISE, but both will be necessary in order to provide a consistent method to report findings, enhance communication among providers and optimize surgical outcomes.
Level of Evidence
N/A.
Objectives
Cornelia de Lange syndrome (CdLS) is a rare genetic disorder. Our goal was to systematically review the literature regarding otolaryngology manifestations of CdLS.
Methods
We ...systematically reviewed the PubMed, Embase, CINAHL, Scopus, and Google Scholar databases for original articles of otolaryngology manifestations for patients with CdLS. These articles were analyzed, and pooled prevalence was calculated.
Results
We analyzed 1,310 patients included in 35 case series and 34 case reports. Hearing loss was present for many patients (27 studies), with sensorineural hearing loss affecting 40.3% (95% confidence interval CI: 17.3–63.4) and conductive affecting 22.7% (95% CI: 5.7–39.7). Recurrent acute otitis media was the most frequent infectious manifestation, with 56.5% (95% CI: 34.1–78.4) in seven studies, followed by recurrent airway infections with 44.1% (95% CI: 11.0–87.1) in five studies. Forty‐nine (49.7%) percent of patients (95% CI: 25.9–73.6) in nine studies had dysphagia, and 76.6% (95% CI: 59.8–93.3) in four studies had some degree of dysphonia. Craniofacial anomalies were reported in 30 studies, with micrognathia (53.1%; 95% CI: 34.1–72.1) and high arched palate (70.6%; 95% CI: 56.5–84.8) commonly reported. Additional physical exam abnormalities reported included those involving: lips (76.8%; 95% CI: 65.3–88.4), dentition (65.1%; 95% CI: 27.2–100), mouth (85.5%; 95% CI: 76.2–93.8), and eyelashes (87.1%; 95% CI: 77.2–96.9). Sleep‐disordered breathing or obstructive sleep apnea affected 25.8% (95% CI: 11.4–40.2) of patients (7 studies). Airway anomalies were reported in 11 case reports.
Conclusion
This is the first comprehensive evaluation of otolaryngologic manifestations in the CdLS literature. Most reported hearing loss and craniofacial anomalies. Sleep disorders occurred in a minority of patients, whereas airway disorders were primarily reported in case reports. These conditions should be further examined given their potential life‐threatening implications.
Level of Evidence
3a Laryngoscope, 130:E122–E133, 2020
Objectives/Hypothesis
Drug‐induced sleep endoscopy (DISE) is used to determine surgical therapy for obstructive sleep apnea (OSA); however, the effects of anesthesia on the upper airway are poorly ...understood. Our aim was to systematically review existing literature on the effects of anesthetic agents on the upper airway.
Data Sources
PubMed, CINAHL, EBM reviews and Scopus (all indexed years).
Review Methods
Inclusion criteria included English language articles containing original human data. Two investigators independently reviewed all articles for outcomes related to upper airway morphology, dynamics, neuromuscular response, and respiratory control.
Results
The initial search yielded 180 s; 56 articles were ultimately included (total population = 8,540). The anesthetic agents studied were: topical lidocaine, propofol, dexmedetomidine, midazolam, pentobarbital, sevoflurane, desflurane, ketamine, and opioids. Outcome measures were diverse and included imaging studies, genioglossus electromyography, endoscopic airway assessment, polysomnography, upper airway closing pressure, and clinical evidence of obstruction. All agents caused some degrees of airway collapse. Dexmedetomidine did not have dose‐dependent effects when evaluated using cine magnetic resonance imaging, unlike sevoflurane, isoflurane, and propofol, and caused less dynamic collapse than propofol.
Conclusions
Studies assessing the effect of anesthesia on the upper airway in patients with and without OSA are limited, and few compare effects between agents. Medications with minimal effect on respiratory control (e.g., dexmedetomidine) may work best for DISE. Laryngoscope, 126:270–284, 2016
Objectives
To determine if shared decision‐making tools (SDMTs) improve clinical outcomes for these children.
Shared decision making (SDM) is a collaborative process in which patients and clinicians ...jointly establish treatment plans that integrate clinical evidence and patient values/preferences. We previously reported less decisional conflict using a SDMT for families of children with obstructive sleep apnea (OSA) without tonsillar hypertrophyl; however, the clinical impact of this finding is unknown.
Methods
Prospective single‐blind randomized controlled trial for consecutive patients referred to a multidisciplinary upper airway center. The study group used a SDMT, whereas the control group did not; all were followed until their next appointment and polysomnogram.
Results
We assessed 50 families (24 study, 26 controls); mean age of patients was 8.8 (95% confidence interval 6.9–10.6) years, and 44% were female. After their initial visit, there was agreement between families and providers on the best treatment option for 22 of 24 (91.7%) study patients and 12 of 26 (46.2%) controls (P < 0.001). Before the first follow‐up, four control families (15.4%) modified their treatment plan, whereas none of the study families did so (P = 0.04). Continuous positive airway pressure (CPAP) compliance was 27% (3 of 11) for controls and 57% (5 of 8) for study patients (P = 0.11). The median obstructive apnea‐hypopnea index significantly improved in study patients from 13.4 (range, 20.0–57.2) to 3.5 (range 0.4–45.5, P = 0.01 events per hour, but not in controls, with 9.4 (range, 0.9–76.2) to 4.9 (range, 0–116, P = 0.10) events per hour.
Conclusion
Families of children with OSA without tonsillar hypertrophy who were counseled regarding treatment options using SMDTs were more likely to undergo agreed upon treatment and had higher CPAP compliance.
Level of Evidence
1b. Laryngoscope, 129:2646–2651, 2019
Pediatric Obstructive Sleep Apnea Ehsan, Zarmina; Ishman, Stacey L
Otolaryngologic clinics of North America,
12/2016, Letnik:
49, Številka:
6
Journal Article
Recenzirano
Screening for obstructive sleep apnea (OSA) with in-laboratory polysomnography is recommended for children with sleep disordered breathing. Adenotonsillectomy is the first-line therapy for pediatric ...OSA, although intranasal steroids and montelukast can be considered for those with mild OSA and continuous positive airway pressure for those with moderate to severe OSA awaiting surgery, poor surgical candidates or persistent OSA. Bony or soft tissue upper airway surgery is reasonable for children failing medical management or those with persistent OSA following adenotonsillectomy. Weight loss and oral appliance therapy are also useful. A multi-modality approach to diagnosis and treatment is preferred.
Abstract
Objectives:
The presence of sleep disordered breathing (SDB) is known to impact long-term cardiovascular morbidity in adults; however, the long-term effects in children are poorly ...understood. We aimed to systematically review and synthesize studies published to date on the long-term effects of SDB in children.
Study Design:
Meta-analysis and systematic review using PubMed, CINAHL, Embase, and Scopus (all indexed years).
Methods:
We searched for English-language articles containing original human data from prospective studies, with ≥7 participants, in children ≤18 years of age. Data regarding study design, demographics, clinical characteristics, outcomes, level of evidence, and risk of bias were obtained. Articles were independently reviewed by three investigators. Retrospective and cross-sectional studies were excluded.
Results:
Of 1701 identified abstracts, 25 articles (combined n = 1418) were ultimately included. All studies reported longitudinal outcomes following treatment of SDB, 21 studies exclusively reporting outcomes after adenotonsillectomy. Therefore, studies were combined to objectively assess the effect of SDB treatment on cardiovascular outcomes. Although all cardiovascular parameters were within the normal range at baseline, at follow-up there was a significant decrease in mean pulmonary artery pressure, right ventricular end diastolic diameter, heart rate, mitral Em/Am ratio, and C-reactive protein. There was no significant change in interventricular septum thickness, left ventricular parameters (shortening fraction, systolic and end diastolic diameters, ejection fraction, posterior wall thickness, isovolumetric relaxation time), left atrial diameter, and aortic and pulmonary valve peak velocities.
Conclusions:
Studies assessing the long-term cardiovascular effects of SDB in children are limited. The available literature indicates effects on autonomic function, right, and left heart function following treatment for SDB. However, well-designed, large-scale, prospective cohort studies (using standardized outcomes) are needed to better understand the relationship of cardiovascular morbidity in the context of pediatric SDB.
Objectives/Hypothesis
Hypoglossal nerve (HGN) stimulation is a novel therapy for obstructive sleep apnea (OSA) in adults. Its efficacy and safety in children with Down syndrome (DS) was previously ...reported in a preliminary case series of six adolescents.
Study Design
Case series.
Methods
Twenty nonobese children and adolescents (aged 10–21 years) with DS and severe OSA (apnea‐hypopnea index AHI >10 and <50 events/hr) despite prior adenotonsillectomy were enrolled. Participants had failed a trial of continuous positive airway pressure therapy and underwent sleep endoscopy confirming surgical candidacy. The primary outcome was to assess safety and monitor for adverse events. Secondary outcomes included efficacy in reducing AHI (% reduction in AHI), adherence to therapy, and change in a validated quality‐of‐life instrument, the OSA‐18 survey.
Results
All 20 children (median age = 16.0 years interquartile range = 13–17 years, 13 male) were implanted with no long‐term complications. We report two interval adverse events, both of which were corrected with revision surgery. Twenty participants completed the 2‐month polysomnogram, with median percent reduction in titration AHI of 85% (interquartile range = 75%–92%). The median nightly usage for these children was 9.21 hours/night. There was a median change in the OSA‐18 score of 1.15, indicating a moderate, yet significant, clinical change.
Conclusions
HGN stimulation was safe and effective in the study population. Two minor surgical complications were corrected surgically. Overall, these data suggest that pediatric HGN stimulation appears to be a safe and effective therapy for children with DS and refractory severe OSA.
Level of Evidence
4 Laryngoscope, 130:E263–E267, 2020
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