The facial morphology in Down syndrome: A 3D comparison of patients with and without obstructive sleep apnea.
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ABSTRACT:
SUBMITTER: Jayaratne YSN
PROVIDER: S-EPMC5650534 | biostudies-other | 2017 Nov
REPOSITORIES: biostudies-other
Publications
The facial morphology in Down syndrome: A 3D comparison of patients with and without obstructive sleep apnea.
Jayaratne Yasas S N YSN Elsharkawi Ibrahim I Macklin Eric A EA Voelz Lauren L Weintraub Gil G Rosen Dennis D Skotko Brian G BG
American journal of medical genetics. Part A 20170817 11
Obstructive sleep apnea (OSA) occurs at a high prevalence in patients with Down syndrome (DS). A polysomnogram, which is often cumbersome and challenging, remains the gold standard method of diagnosing OSA. OSA in patients with DS is often attributed to skeletal and soft-tissue structural alterations that are characteristic of the DS phenotype; as such, we hypothesized that assessing anthropometric facial measurements may be predictive of OSA in patients with DS. We used the 3dMDface sterophotog ...[more]
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Project description:ObjectiveTo characterize polysomnographic sleep architecture in children with Down syndrome and compare findings in those with and without obstructive sleep apnea.Study designCase series with retrospective review.SettingSingle tertiary pediatric hospital (2005-2018).MethodsWe reviewed the electronic health records of patients undergoing polysomnography who were referred from a specialized center for children with Down syndrome (age, ≥12 months). Continuous positive airway pressure titration, oxygen titration, and split-night studies were excluded.ResultsA total of 397 children were included (52.4% male, 81.6% Caucasian). Mean age at the time of polysomnography was 4.7 years (range, 1.4-14.7); 79.4% had obstructive sleep apnea. Sleep variables were reported as mean (SD) values: sleep efficiency, 85% (11%); sleep latency, 29.8 minutes (35.6); total sleep time, 426 minutes (74.6); rapid eye movement (REM) latency, 126.8 minutes (66.3); time spent in REM sleep, 22% (7%); arousal index, 13.3 (5); and time spent supine, 44% (28%). There were no significant differences between those with obstructive sleep apnea and those without. Sleep efficiency <80% was seen in 32.5%; 34.3% had a sleep latency >30 minutes; 15.9% had total sleep time <360 minutes; and 75.6% had an arousal index >10/h. Overall, 69.2% had ≥2 metrics of poor sleep architecture. REM sleep time <20% was seen in 35.3%. REM sleep time decreased with age.ConclusionIn children with Down syndrome, 32.5% had sleep efficiency <80%; 75.6% had an elevated arousal index; and 15.9% had total sleep time <360 minutes. More than a third of the patients had ≥3 markers of poor sleep architecture. There was no difference in children with or without obstructive sleep apnea.
| S-EPMC8021597 | biostudies-literature
Project description:Obstructive sleep apnea (OSA) occurs frequently in people with Down syndrome (DS) with reported prevalences ranging between 55% and 97%, compared to 1-4% in the neurotypical pediatric population. Sleep studies are often uncomfortable, costly, and poorly tolerated by individuals with DS. The objective of this study was to construct a tool to identify individuals with DS unlikely to have moderate or severe sleep OSA and in whom sleep studies might offer little benefit. An observational, prospective cohort study was performed in an outpatient clinic and overnight sleep study center with 130 DS patients, ages 3-24 years. Exclusion criteria included previous adenoid and/or tonsil removal, a sleep study within the past 6 months, or being treated for apnea with continuous positive airway pressure. This study involved a physical examination/medical history, lateral cephalogram, 3D photograph, validated sleep questionnaires, an overnight polysomnogram, and urine samples. The main outcome measure was the apnea-hypopnea index. Using a Logic Learning Machine, the best model had a cross-validated negative predictive value of 73% for mild obstructive sleep apnea and 90% for moderate or severe obstructive sleep apnea; positive predictive values were 55% and 25%, respectively. The model included variables from survey questions, medication history, anthropometric measurements, vital signs, patient's age, and physical examination findings. With simple procedures that can be collected at minimal cost, the proposed model could predict which patients with DS were unlikely to have moderate to severe obstructive sleep apnea and thus may not need a diagnostic sleep study.
| S-EPMC9933889 | biostudies-literature
Project description:The study aimed to compare urinary biomarkers in patients with Down syndrome (DS) with and without obstructive sleep apnea (OSA) to those of age- and sex-matched neurotypically developing healthy controls (HC). We further investigated whether we could predict OSA in patients with DS using these biomarkers.Urine samples were collected from 58 patients with DS the night before or the morning after their scheduled overnight polysomnogram or both, of whom 47 could be age- and sex-matched to a sample of 43 HC. Concentrations of 12 neurotransmitters were determined by enzyme-linked immunosorbent assay. Log-transformed creatinine-corrected assay levels were normalized. Normalized z-scores were compared between patients with DS vs. HC, between patients with DS with vs. without OSA, and to derive composite models to predict OSA.Most night-sampled urinary biomarkers were elevated among patients with DS relative to matched HC. No urinary biomarker levels differed between patients with DS with vs. without OSA. A combination of four urinary biomarkers predicted AHI > 1 with a positive predictive value of 90% and a negative predictive value of 68%.Having DS, even in the absence of concurrent OSA, is associated with a different urinary biomarker profile when compared to that of HC. Therefore, while urinary biomarkers may be predictive of OSA in the general pediatric population, a different approach is needed in interpreting urinary biomarker assays in patients with DS. Certain biomarkers also seem promising to be predictive of OSA in patients with DS. No clinical trial was indicated in the undertaking of this work.
| S-EPMC5439300 | biostudies-literature
Project description:STUDY OBJECTIVES:To estimate the prevalence of obstructive sleep apnea (OSA) in children with Down syndrome. METHODS:Two authors independently searched databases, namely PubMed, MEDLINE, EMBASE, and the Cochrane Review database. The keywords used were "Down syndrome," "Trisomy 21," "OSA," "sleep apnea syndromes," "polysomnography" and "polygraphy." The prevalence of OSA based on apnea-hypopnea index (AHI) greater than 1, 1.5, 2, 5, and 10 event/h was estimated using a random-effects model. Subgroup analyses were conducted for children in different countries, sample size, study year, and risk of bias. Finally, the prevalence of OSA was compared between two types of sleep studies (polysomnography versus polygraphy). RESULTS:A total of 18 studies (1,200 children) were included (mean age: 7.7 years; 56% boys; mean sample size: 67 patients). Five studies had low risk of bias, and nine and four studies had moderate and high risk of bias, respectively. The OSA was evaluated through polygraphy in 2 studies, and polysomnography in 16 studies. For children who underwent polysomnography, the prevalences of OSA based on AHI > 1, 1.5, 2, 5, and 10 events/h were 69%, 76%, 75%, 50%, and 34%, respectively. Subgroup analyses revealed no significant difference among all subgroups. Meta-regression showed that AHI > 5 events/h was inversely correlated with age (P < .001). Moreover, the prevalence of OSA based on AHI > 1.5 events/h was lower in polygraphy compared with polysomnography (59% versus 76%, P = .037). CONCLUSIONS:OSA is highly prevalent in children with Down syndrome. Prevalence of moderate to severe OSA is higher in younger age.
| S-EPMC5940439 | biostudies-literature
Project description:Rationale: Obstructive sleep apnea (OSA) has been associated with metabolic dysregulation and systemic inflammation. This may be due to pathophysiologic effects of OSA on visceral adipose tissue. We sought to assess the transcriptional consequences of OSA on adipocytes by utilizing pathway-focused analyses. Methods: Patients scheduled to undergo ventral hernia repair surgery were recruited to wear a portable home sleep monitor for two nights prior to surgery. Visceral fat biopsies were obtained intra-operatively. RNA was extracted and whole-genome expression profiling was performed. Gene Set Enrichment Analysis (GSEA) was used to identify curated gene sets that were differentially enriched in OSA subjects. Network analysis was applied to a select set of highly enriched pathways. Results: 10 patients with OSA and 8 control subjects were recruited. There were no differences in age, gender, body mass index between the two groups, but the OSA subjects had a significantly higher respiratory disturbance index (19.2 vs. 0.6, P-value 0.05) and worse hypoxemia (minimum oxygen saturation 79.7% vs. 87.8%, P-value < 0.001). GSEA identified a number of gene sets up-regulated in adipose tissue of OSA patients including the pro-inflammatory NF-M-NM-:B pathway and the proteolytic ubiquitin/proteasome module. A critical metabolic pathway, the peroxisome proliferator-activated receptor (PPAR), was down-regulated in subjects with OSA. Network analysis linked members of these modules together and identified regulatory hubs. Conclusions: OSA is associated with alterations in visceral fat gene expression. Pathway-based network analysis highlighted perturbations in several key pathways whose coordinated interactions may contribute to the metabolic dysregulation observed in this complex disorder. Total RNA from visceral fat of 18 subjects (10 OSA, 8 Control) was hybridized to 18 Affymetrix Genechip Human Gene 1.0 ST microarrays.
2012-09-01 | E-GEOD-38792 | biostudies-arrayexpress
Project description:Introduction Obstructive sleep apnea syndrome (OSAS), which is commonly underdiagnosed, has a high occurrence in the world population. Health education concerning sleep disorders and OSAS should be implemented. Objectives The objective was to identify studies related to preventive actions on sleep disorders, with emphasis on OSAS. Data Synthesis A literature review was conducted using Lilacs, Medline, PubMed, and Scopus by combining the following keywords: "Health Promotion," "Sleep Disorders," "Primary Prevention," "Health Education," and "Obstructive Sleep Apnea Syndromes." Initially, 1,055 papers, from 1968 to 2013, were located, with the majority from the Scopus database. The inclusion criteria were applied, and four articles published between 2006 and 2012 were included in the present study. Conclusions The studies on preventive actions in sleep disorders, with emphasis on OSAS, involved the general population and professionals and students in the health field and led to increased knowledge on sleep disorders and more appropriate practices.
| S-EPMC4399197 | biostudies-other
Project description:ObjectivesAcute bronchiolitis commonly causes respiratory failure in children ≤2 years, and is particularly severe in those with Down syndrome (DS). Obstructive sleep apnea (OSA), common in DS, is also associated with respiratory complications. However, it is unknown whether OSA is associated with worse outcomes in children with and without DS, hospitalized with bronchiolitis. We hypothesized that in children with bronchiolitis, OSA is associated with worse outcomes in those with DS, independent of DS-related comorbidities.MethodsHospital discharge records of children with bronchiolitis aged ≤2 years were obtained for 1997-2012 from the Kid's Inpatient Database. The primary outcome was invasive mechanical ventilation (IMV), and secondary outcomes were non-invasive mechanical ventilation (NIMV), length of hospital stay, and inflation-adjusted cost of hospitalization (IACH). Multivariable regression was conducted to ascertain the associations between OSA and primary and secondary outcomes accounting for DS-associated comorbidities.ResultsThere were 928,961 hospitalizations for bronchiolitis. The DS group with bronchiolitis (n = 8697) was more likely to have OSA [241 (2.77%) vs 1293 (0.14%), p < 0.001] compared to the non-DS group (n = 920,264). Multivariable logistic regression showed that OSA was associated with IMV (adjusted odds ratio [OR], 3.32 [95% CI 2.54-4.35], p < 0.0001) in all children with bronchiolitis; and in those with DS, it was associated with IMV (adjusted OR, 2.34 [95% CI 1.38-3.97], p = 0.002), NIMV (adjusted OR, 8.21 [95% CI 4.48-15.04], p < 0.0001) and IACH (adjusted β, 0.18 [95% CI 0.02-0.34], p = 0.031).ConclusionsOSA is independently associated with assisted ventilation in all children hospitalized with bronchiolitis, regardless of DS-associated comorbidities in those with DS. The severity of bronchiolitis in children with DS may be driven by the high prevalence of OSA.
| S-EPMC8205980 | biostudies-literature
Project description:Detecting obstructive sleep apnea (OSA) is important to both prevent significant comorbidities in people with Down syndrome (DS) and untangle contributions to other behavioral and mental health diagnoses. However, laboratory-based polysomnograms are often poorly tolerated, unavailable, or not covered by health insurance for this population. In previous work, our team developed a prediction model that seemed to hold promise in identifying which people with DS might not have significant apnea and, consequently, might be able to forgo a diagnostic polysomnogram. In this study, we sought to validate these findings in a novel set of participants with DS. We recruited an additional 64 participants with DS, ages 3-35 years. Caregivers completed the same validated questionnaires, and our study team collected vital signs, physical exam findings, and medical histories that were previously shown to be predictive. Patients then had a laboratory-based polysomnogram. The best modeling had a validated negative predictive value of 50% for an apnea-hypopnea index (AHI) > 1/hTST and 73.7% for AHI >5/hTST. The positive predictive values were 60% and 39.1%, respectively. As such, a clinically reliable screening tool for OSA in people with DS was not achieved. Patients with DS should continue to be monitored for OSA according to current healthcare guidelines.
| S-EPMC9988250 | biostudies-literature
Project description:ImportancePatients with Down syndrome have a high incidence of persistent obstructive sleep apnea (OSA) and limited treatment options. Upper airway hypoglossal stimulation has been shown to be effective for adults with OSA but has not yet been evaluated for pediatric populations.ObjectiveTo evaluate the safety and effectiveness of upper airway stimulation for adolescent patients with Down syndrome and severe OSA.Design, setting, and participantsThis prospective single-group multicenter cohort study with 1-year follow-up was conducted between April 1, 2015, and July 31, 2021, among a referred sample of 42 consecutive adolescent patients with Down syndrome and persistent severe OSA after adenotonsillectomy.InterventionUpper airway stimulation.Main outcomes and measuresThe prespecified primary outcomes were safety and the change in apnea-hypopnea index (AHI) from baseline to 12 months postoperatively. Polysomnographic and quality of life outcomes were assessed at 1, 2, 6, and 12 months postoperatively.ResultsAmong the 42 patients (28 male patients [66.7%]; mean [SD] age, 15.1 [3.0] years), there was a mean (SD) decrease in AHI of 12.9 (13.2) events/h (95% CI, -17.0 to -8.7 events/h). With the use of a therapy response definition of a 50% decrease in AHI, the 12-month response rate was 65.9% (27 of 41), and 73.2% of patients (30 of 41) had a 12-month AHI of less than 10 events/h. The most common complication was temporary tongue or oral discomfort, which occurred in 5 patients (11.9%). The reoperation rate was 4.8% (n = 2). The mean (SD) improvement in the OSA-18 total score was 34.8 (20.3) (95% CI, -42.1 to -27.5), and the mean (SD) improvement in the Epworth Sleepiness Scale score was 5.1 (6.9) (95% CI, -7.4 to -2.8). The mean (SD) duration of nightly therapy was 9.0 (1.8) hours, with 40 patients (95.2%) using the device at least 4 hours a night.Conclusions and relevanceUpper airway stimulation was able to be safely performed for 42 adolescents who had Down syndrome and persistent severe OSA after adenotonsillectomy with positive airway pressure intolerance. There was an acceptable adverse event profile with high rates of therapy response and quality of life improvement.Trial registrationClinicalTrials.gov Identifier: NCT02344108.
| S-EPMC9026239 | biostudies-literature
Project description:Rationale: Obstructive sleep apnea (OSA) has been associated with metabolic dysregulation and systemic inflammation. This may be due to pathophysiologic effects of OSA on visceral adipose tissue. We sought to assess the transcriptional consequences of OSA on adipocytes by utilizing pathway-focused analyses. Methods: Patients scheduled to undergo ventral hernia repair surgery were recruited to wear a portable home sleep monitor for two nights prior to surgery. Visceral fat biopsies were obtained intra-operatively. RNA was extracted and whole-genome expression profiling was performed. Gene Set Enrichment Analysis (GSEA) was used to identify curated gene sets that were differentially enriched in OSA subjects. Network analysis was applied to a select set of highly enriched pathways. Results: 10 patients with OSA and 8 control subjects were recruited. There were no differences in age, gender, body mass index between the two groups, but the OSA subjects had a significantly higher respiratory disturbance index (19.2 vs. 0.6, P-value 0.05) and worse hypoxemia (minimum oxygen saturation 79.7% vs. 87.8%, P-value < 0.001). GSEA identified a number of gene sets up-regulated in adipose tissue of OSA patients including the pro-inflammatory NF-κB pathway and the proteolytic ubiquitin/proteasome module. A critical metabolic pathway, the peroxisome proliferator-activated receptor (PPAR), was down-regulated in subjects with OSA. Network analysis linked members of these modules together and identified regulatory hubs. Conclusions: OSA is associated with alterations in visceral fat gene expression. Pathway-based network analysis highlighted perturbations in several key pathways whose coordinated interactions may contribute to the metabolic dysregulation observed in this complex disorder.
2012-09-01 | GSE38792 | GEO