Sleep‐disordered breathing and nocturnal hypoventilation in children with the MECP2 duplication syndrome: A case series and review of the literature

2020 ◽  
Vol 182 (10) ◽  
pp. 2437-2441
Author(s):  
Amber Baelen ◽  
Louise Verhoustraeten ◽  
Sandra Kenis ◽  
Marije Meuwissen ◽  
An Boudewyns ◽  
...  
SLEEP ◽  
2020 ◽  
Vol 43 (Supplement_1) ◽  
pp. A341-A342
Author(s):  
Y A Yu ◽  
B V Vaughn

Abstract Introduction Turner syndrome (TS) is a common genetic disorder that affects phenotypic females with partial or complete absence of one X chromosome. It typically presents with characteristic facial appearance, neck webbing, lymphedema, linear growth failure, and ovarian insufficiency. TS is also associated with other disorders, though sleep related disorders are not commonly reported. We present a case series of pediatric patients diagnosed with TS and assess their risk for sleep disordered breathing. Methods This study utilized retrospective chart review of the electronic medical record at the University of North Carolina at Chapel Hill from April 2014 to January 2019. Only pediatric patients under the age of 18 years who had previously undergone polysomnography and carrying the diagnosis of Turner syndrome were included in this study. Polysomnography results were reviewed. Results Retrospective chart analysis yielded ten (10) patients who qualified for inclusion. The mean age was 8.3 years (age range 1-15 years). Nine (9) patients were found to have sleep disordered breathing ranging from upper airway resistance syndrome to moderate sleep apnea (AHI range 1.2 to 6.2). Six (6) patients were found to have elevated periodic limb movement indices (PLM index range 5.1 to 30). Parasomnias and hypoventilation were not seen. Conclusion Our case series illustrates that sleep disordered breathing may be more common in TS than previously realized. Eklund et al. found that females with TS had more retrognathic mandibles and maxillas, shorter mandibles, and larger cranial base angles. These findings may indicate elevated risk of sleep apnea. Further studies are needed to define the overall risk of sleep disordered breathing in TS. Support None.


OTO Open ◽  
2021 ◽  
Vol 5 (4) ◽  
pp. 2473974X2110591
Author(s):  
Rohith S. Voora ◽  
Daniela Carvalho ◽  
Wen Jiang

Objective Both tonsillar hypertrophy and obesity contribute to pediatric sleep-disordered breathing (SDB). Tonsillectomy addresses anatomical obstruction causing SDB; however, it may adversely affect the obesity profile postoperatively. Herein, we investigate posttonsillectomy body mass index (BMI) changes in pediatric patients. Study Design Retrospective case series. Setting Tertiary, pediatric urban academic center. Methods All patients undergoing tonsillectomy from January 1, 2016, to December 31, 2016, were included. Patients’ age, sex, surgical indication, and preoperative BMI were recorded. Postoperative BMI data were collected between March 1, 2016, and December 31, 2017. Statistical analysis was performed using a generalized regression model, using BMI percentile-for-age weight status. Results A total of 1153 patients were included (50% female), with age ranging from 2.0 to 19.5 years (mean [SD], 7.6 [4.0]). The majority (87.8%) had tonsillectomy for SDB. Of the cohort, 560 (48.6%) had available follow-up BMI data. The BMI percentile on the day of the surgery had a median of 65.8, and the BMI percentile on follow-up had a median of 76.4. The median time to follow-up was 197 days with a range of 50 to 605 days. Higher postoperative BMI percentile strongly correlated to higher preoperative BMI percentile ( P < .001), as well as younger age ( P < .001), male sex ( P = .0005), and SDB as a surgical indication ( P = .003). Conclusion We observed a significant increase in BMI percentile following tonsillectomy, which accounted for a significantly higher proportion of the cohort being classified as overweight or obese postoperatively. These findings necessitate greater preoperative counseling, closer follow-up, and adjunctive measures for obesity management in pediatric patients undergoing tonsillectomy.


2013 ◽  
Vol 14 (2) ◽  
pp. 220-221 ◽  
Author(s):  
Sandeep Riar ◽  
Sushanth Bhat ◽  
Besher Kabak ◽  
Divya Gupta ◽  
Irving Smith ◽  
...  

2016 ◽  
Vol 36 (1) ◽  
pp. 109-112 ◽  
Author(s):  
Neha Sharma ◽  
Elizabeth Harvey ◽  
Reshma Amin

Sleep-disordered breathing (SDB) is prevalent in children with chronic kidney disease (CKD), and has the potential to worsen vascular and neuro-cognitive health and quality of life. We present 2 children with CKD who experience central sleep apnea and nocturnal hypoventilation and discuss the possible underlying mechanisms in relation to CKD and dialysis.


2015 ◽  
Vol 20 (1) ◽  
pp. 387-394 ◽  
Author(s):  
João Vitor dos Santos Canellas ◽  
Hugo Leonardo Mendes Barros ◽  
Paulo José D’Albuquerque Medeiros ◽  
Fabio Gamboa Ritto

2019 ◽  
Vol 12 ◽  
pp. 100325 ◽  
Author(s):  
Daniel M. Oh ◽  
Jacklyn Johnson ◽  
Bankim Shah ◽  
Sushanth Bhat ◽  
Rolla Nuoman ◽  
...  

2009 ◽  
Vol 1 ◽  
pp. CMT.S1940
Author(s):  
Natalie D. Dautovich ◽  
Jacob M. Williams ◽  
Christina S. McCrae

The present paper presents a review of the literature examining the efficacy of eszopiclone for treating insomnia. The purpose of the paper was to evaluate both the statistical and clinical efficacy of eszopiclone for treating insomnia. Both subjective and objective assessments of insomnia were evaluated across various sleep variables. Additionally, the efficacy of eszopiclone for treating insomnia comorbid with other conditions (sleep disordered breathing, psychiatric diagnoses, peri/post-menopause, rheumatoid arthritis), transient insomnia, and across diverse samples (adults, older adults, and samples pooled by race) was reviewed. Finally, the impact of eszopiclone use on daytime functioning was examined.


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