scholarly journals Evaluating Sleep Disturbances in Children with Rare Genetic Neurodevelopmental Syndromes

2021 ◽  
Author(s):  
Olivia J. Veatch ◽  
Beth A. Malow ◽  
Hye-Seung Lee ◽  
Aryn Knight ◽  
Judy O. Barrish ◽  
...  

AbstractBackgroundAdequate sleep is important for proper neurodevelopment and positive health outcomes. Sleep disturbances are more prevalent in children with genetically determined neurodevelopmental syndromes compared to typically developing counterparts. We characterize sleep behavior in Rett (RTT), Angelman (AS) and Prader-Willi (PWS) syndromes in order to identify effective approaches for treating sleep problems in these populations. We compared sleep-related symptoms across individuals with these different syndromes to each other, and to typically developing controls.MethodsChildren were recruited from the Rare Diseases Clinical Research Network (RDCRN) consortium registries; unaffected siblings were enrolled as related controls. For each participant, a parent completed multiple sleep questionnaires including: Pediatric Sleep Questionnaire (Sleep-Disordered Breathing [SDB]); Children’s Sleep Habits Questionnaire; Pediatric Daytime Sleepiness Scale.ResultsSleep data were analyzed from 714 participants, ages 2-18 years. Young children with AS had more reported sleep problems than children with RTT or PWS. Older children with RTT had more reported daytime sleepiness than those with AS or PWS. Finally, all individuals with RTT had more evidence of sleep-disordered breathing when compared to individuals with PWS. Notably, typically developing siblings were also reported to have sleep problems, except for sleep-related breathing disturbances which were associated with each of the genetic syndromes.ConclusionsIndividuals with RTT, AS and PWS frequently experience sleep problems, including sleep-disordered breathing. Screening for sleep problems in individuals with these and other neurogenetic disorders should be included in clinical assessment and managements. These data may also be useful in developing treatment strategies and in clinical trials.

2012 ◽  
Vol 2012 ◽  
pp. 1-7 ◽  
Author(s):  
Charumathi Sabanayagam ◽  
Ruoxin Zhang ◽  
Anoop Shankar

Previous studies have documented an association between markers of sleep-disordered breathing (SDB) and metabolic syndrome. However, it is not clear if there are gender or ethnic differences in this association. We examined 6,122 participants aged ≥20 years from the National Health and Nutrition Examination Survey 2005–08. Metabolic syndrome was defined as the presence of ≥3 of the following components: (1) abdominal obesity, (2) elevated blood triglycerides, (3) low HDL cholesterol, (4) high BP, and (5) hyperglycemia. SDB severity was defined based on an additive summary score including sleep duration, snoring, snorting, and daytime sleepiness. We found that short sleep duration, snoring, snorting, daytime sleepiness and the summary SDB score were significantly associated with metabolic syndrome independent of potential confounders. Compared to those without any sleep disturbance, the multivariable odds ratio (OR) (95% confidence interval [CI]) of metabolic syndrome among those with three or more sleep disturbances was 3.92 (2.98–5.16). In subgroup analyses, this association was consistently present among men and women and all race-ethnic groups. In summary, SDB was independently associated with metabolic syndrome in a nationally representative sample of US adults.


2012 ◽  
Vol 2012 ◽  
pp. 1-8 ◽  
Author(s):  
Charumathi Sabanayagam ◽  
Srinivas Teppala ◽  
Anoop Shankar

We examined gender and ethnic differences in the association between sleep disordered breathing (SDB) and diabetes among 6,522 participants aged ≥20 years from the National Health and Nutrition Examination Survey 2005–08. SDB severity was defined based on an additive summary score including sleep duration, snoring, snorting, and daytime sleepiness. We found that the summary SDB score was significantly associated with diabetes after adjusting for potential confounders in the whole population. Compared to those without any sleep disturbance, the multivariable odds ratio (OR) (95% confidence interval (CI)) of diabetes among those with ≥3 sleep disturbances was 2.04 (1.46–2.87). In sex-specific analyses, this association was significant only in women (OR (95% CI) = 3.68 (2.01–6.72)) but not in men (1.10 (0.59–2.04)),P-interaction=0.01. However, there were no ethnic differences in this association,P-interaction=0.7. In a nationally representative sample of US adults, SDB was independently associated with diabetes only in women, but not in men.


2016 ◽  
Vol 54 (1) ◽  
pp. 75-79
Author(s):  
Rong-San Jiang ◽  
Kai-Li Liang ◽  
Chung-Han Hsin ◽  
Mao-Chang Sun

Background: The nose plays an important role in sleep quality. Very little is known about sleep problems in patients with chronic rhinosinusitis (CRS). The aim of this study was to investigate the impact of CRS on sleep-disordered breathing. Methodology: CRS patients who underwent functional endoscopic sinus surgery were collected between July 2010 and May 2015. Before surgery, they filled 20-item Sino-Nasal Outcome Test and Epworth Sleepiness Scale questionnaires, were asked about the severity of nasal obstruction, and received acoustic rhinometry, smell test, an endoscopic examination, sinus computed tomography, and a one-night polysomnography. Sleep quality was evaluated in these patients and was correlated with the severity of rhinosinusitis. Results: One hundred and thirty-nine CRS patients were enrolled in the study. Among them, 38.1% complained of daytime sleepiness, and this sleep problem was correlated with the symptom of nasal obstruction. Obstructive sleep apnea syndrome (OSAS) was diagnosed in 64.7% of the patients, but there was no correlation with the severity of rhinosinusitis. Nasal polyps did not worsen sleep problems in the CRS patients. Conclusions: This study showed that CRS patents had a high prevalence of OSAS, and worse OSAS in CRS patients was not correlated with the severity of rhinosinusitis.


Circulation ◽  
2014 ◽  
Vol 129 (suppl_1) ◽  
Author(s):  
Michelle A Miller ◽  
Ponnusamy Saravanan ◽  
Manu Vatish ◽  
Francesco P Cappuccio

Introduction and objectives: Physiological and hormonal changes occurring in pregnancy increase the risk of sleep disordered breathing (SDB), which, along with short sleep (SS) duration, may be associated with an increased risk of gestational diabetes mellitus (GDM). Exposure to GDM in the mother increases her lifetime risk of type-2 diabetes (T2D) as well as the risk of obesity, metabolic syndrome and, in later life, T2D of her children. The aim of this study was to systematically review the collective published evidence of associations between snoring/sleep-disordered breathing or sleep duration and increased risk of GDM. Hypothesis: We assessed the hypotheses that sleep disturbances, and/or short sleep during pregnancy may be associated with an increased risk of GDM. Materials and Methods: We performed systematic searches using MEDLINE, EMBASE, the Cochrane library and PsycINFO to assess the effect of snoring/sleep disordered breathing (SDB) or short sleep (SS) on the development of gestational diabetes (GDM) and impaired glucose tolerance in pregnancy. Prospective studies with measures of sleep disturbances at baseline and outcome measures of GDM or levels of glucose 1hr post GCT were included in a meta-analysis. We extracted odds ratios (OR) or relative risks (RR) and 95% confidence intervals (CI) and pooled them using a random effect model. Results: Overall, 7 studies met the inclusion criteria. They included 4,292 participants with 311 cases of GDM. In the pooled analysis, snoring/SDB and SS were both associated with a greater risk of GDM (RR: 2·27; 95% CI 1·65 to 3·12; P < 0· 00001) and (3·19 [1·56 to 6·54]; P < 0·002), respectively. There was no evidence of heterogeneity but there was evidence of publication bias and not all studies adjusted for obesity. Sensitivity analyses did not influence the pooled risk estimates. Conclusions: In conclusion, sleep disturbances may represent a risk factor for the development of GDM. Further studies are required to address the issues of publication bias and potential confounding, and to extend these observations to high-risk groups like women of ethnic minority groups whose risk of GDM is the greatest. Prevention, detection and treatment strategies need to be explored.


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