scholarly journals Screening Sleep Abnormalities in Children with Prader–Willi Syndrome: Challenges in the Indian Scenario

2021 ◽  
Vol 1 ◽  
pp. 20-25
Author(s):  
Akanksha Chirag Parikh ◽  
Santhosh Sathyanarayana Olety

There is a high prevalence of sleep-related breathing disorders in the form of obstructive and central sleep apnea as well as spontaneous oxygen desaturation in children with Prader–Willi syndrome (PWS). Most cases are asymptomatic and if untreated go on to develop unfavorable neurodevelopmental, cardiovascular, and cerebrovascular outcomes. Hence, sleep study or polysomnography (PSG) is recommended in all children at the time of diagnosis as well as with the development of certain risk factors including symptoms of sleep apnea, before and after initiation of recombinant growth hormone (rGH) therapy. The use of rGH in children with PWS has been shown to improve central sleep apnea but also shown to be associated with worsening of OSA. PSG is ideally performed in a sleep laboratory. Various types of PSG devices are available depending on the biological parameters that are desired to be monitored. Sleep disorders in children are distinct from those seen in adults and have different diagnostic scoring criteria necessitating a trained pediatric sleep specialist to analyze the PSG recording. Through the clinical case vignette of a 14-year-old girl with PWS, severe obesity, and sleep disordered breathing, this review aims to highlight the need, timing, types, analysis, and interpretation of sleep studies in infants and older children with PWS, particularly in relation to rGH therapy. There is a paucity of literature on sleep studies in children with PWS in the local setting. Thus this review also suggests the need for adapting the existing Western guidelines for PSG in Indian children with PWS.

2021 ◽  
pp. 204589402199693
Author(s):  
Etienne-Marie Jutant ◽  
David Montani ◽  
Caroline Sattler ◽  
Sven Günther ◽  
Olivier Sitbon ◽  
...  

Introduction. Sleep-related breathing disorders, including sleep apnea and hypoxemia during sleep, are common in pulmonary arterial hypertension (PAH), but the underlying mechanisms remain unknown. Overnight fluid shift from the legs to the upper airway and to the lungs promotes obstructive and central sleep apnea, respectively, in fluid retaining states. The main objective was to evaluate if overnight rostral fluid shift from the legs to the upper part of the body is associated with sleep-related breathing disorders in PAH. Methods. In a prospective study, a group of stable patients with idiopathic, heritable, related to drugs, toxins, or treated congenital heart disease PAH underwent a polysomnography and overnight fluid shift measurement by bioelectrical impedance in the month preceding or following a one-day hospitalization according to regular PAH follow-up schedule with a right heart catheterization. Results. Among 15 patients with PAH (women: 87%; median [25th;75th percentiles] age: 40 [32;61] years; mean pulmonary arterial pressure 56 [46;68] mmHg; pulmonary vascular resistance 8.8 [6.4;10.1] Wood units), 2 patients had sleep apnea and 8 (53%) had hypoxemia during sleep without apnea. The overnight rostral fluid shift was 168 [118;263] mL per leg. Patients with hypoxemia during sleep had a greater fluid shift (221 [141; 361] mL) than those without hypoxemia (118 [44; 178] mL, p = 0.045). Conclusion. This pilot study suggests that hypoxemia during sleep is associated with overnight rostral fluid shift in PAH.


SLEEP ◽  
2020 ◽  
Vol 43 (Supplement_1) ◽  
pp. A474-A474
Author(s):  
Nishant Chaudhary ◽  
Mirna Ayache ◽  
John Carter

Abstract Introduction Positive airway pressure-induced upper airway obstruction has been reported with the treatment of obstructive sleep apnea (OSA) using continuous positive airway pressure (CPAP) along with an oronasal interface. Here we describe a case of persistent treatment emergent central sleep apnea (TECSA) inadequately treated with adaptive servo ventilation (ASV), with an airflow pattern suggestive of ASV-induced upper airway obstruction. Report of Case A 32-year-old male, with severe OSA (apnea hypopnea index: 52.4) and no other significant past medical history, was treated with CPAP and required higher pressures during titration sleep studies to alleviate obstructive events, despite a Mallampati Class II airway and a normal body mass index. Drug-Induced Sleep Endoscopy (DISE) showed a complete velopharynx and oropharynx anterior posterior (AP) collapse, long soft palate, which improved with neck extension. CPAP therapy, however, did not result in any symptomatic benefit and compliance reports revealed high residual AHI and persistent TECSA. He underwent an ASV titration sleep study up to a final setting of expiratory positive airway pressure 9 cm H2O, pressure support 6-15 cm H2O (auto-rate), with a full-face mask due to high oral leak associated with the nasal interface. The ASV device detected central apneas and provided mandatory breaths, but did not capture the thorax or abdomen, despite normal mask pressure tracings. Several such apneas occurred, with significant oxyhemoglobin desaturation. Conclusion We postulate that the ASV failure to correct central sleep apnea as evidenced by the absence of thoracoabdominal inspiratory effort, occurred due to ASV-induced upper airway obstruction. Further treatment options for this ASV phenomenon are to pursue an ASV-assisted DISE and determine the effectiveness of adjunctive therapy including neck extension, nasal mask with a mouth closing device and a mandibular assist device.


SLEEP ◽  
2020 ◽  
Vol 43 (Supplement_1) ◽  
pp. A363-A363
Author(s):  
B Al-Shawwa ◽  
Z Ehsan ◽  
D G Ingram

Abstract Introduction The impact of vitamin D on human health including sleep has been well described in adults. Its deficiency has been associated with multiple sleep disorders such as decrease in sleep duration, worsening of sleep quality and even obstructive sleep apnea. Such correlation is less evident in pediatric population. In the current study, we examined the relationship between sleep architecture and vitamin D status in children referred to a sleep clinic. Methods Retrospective-cohort study in a tertiary care children’s hospital over a one-year period. Children who underwent an in-laboratory-overnight-polysomnogram and had a 25-hydroxy vitamin D level (25-OH-vitD) obtained within 120 days of the sleep study were included. Patients with obstructive or central sleep apnea were excluded. Data from polysomnograms (PSG) and Pediatric Sleep Questionnaires (PSQ) were collected and analyzed. Results A total of 39 patients were included in the study with mean age of 6.6 years and 46% females. Twenty (51%) patients had vitamin D deficiency (25-OH-vitD less than 30 ng/ml). Children with vitamin D deficiency had less total sleep time (470.3 minutes +/-35.6 vs 420.3 minutes +/-61.7, p=0.004) and poorer sleep efficiency (91.9 % +/-5.6 vs 84.5 % +/-9.5, p=0.015) compared to vitamin D sufficient children. In addition, vitamin D deficient children had later weekday bedtimes (21:02 +/- 1:01 vs 20:19 +/- 0:55, p=0.037) and later weekend bedtimes (21:42 +/- 0:59 vs 20:47 +/- 1:08, p=0.016) with tendency for later wake up time that did not reach statistical significance. The remainder of polysomnographic findings and PSQ data were not different between the two groups. Conclusion Vitamin D deficiency in children is associated with objectively measured decreased sleep duration and poorer sleep efficiency. Furthermore, vitamin D deficiency was associated with delayed bedtimes, suggesting that vitamin D may influence circadian rhythm. Future prospective studies in children would be helpful in validating the effect of vitamin D on sleep. Support None


2020 ◽  
Vol 56 (01) ◽  
pp. 09-14
Author(s):  
Sreejith M. ◽  
Mohd Ashraf Ganie ◽  
Ravinder Goswami ◽  
Nikhil Tandon ◽  
Randeep Guleria ◽  
...  

Abstract Introduction Sleep-related breathing disorders (SRBDs) including obstructive sleep apnea (OSA) and central sleep apnea (CSA) are quite common and are the leading causes of mortality in acromegaly. OSA in acromegaly is generally attributed to changes in oropharyngeal soft tissues. Data on OSA in Indian acromegaly are scant, especially cephalometric findings. The aim of this study is to evaluate the burden of SRBDs in acromegaly and its correlation to cephalometric parameters. Materials and Methods A total of 32 subjects (20 men and 12 women), diagnosed with acromegaly on the basis of standard clinical, biochemical, and hormonal measurements were recruited. In addition to the above parameters, polysomnography and magnetic resonance imaging (MRI) of the pharynx were performed in all subjects. Results The mean age of the subjects was 42.66 ± 11.13 years (range = 26–66) and mean duration of study after first presentation was 7.6 ± 6.3 years (range = 0.25–32). A total of 28 of 32 (93.3%) subjects had sellar MRI documented macroadenomas while 20 (62.5%) patients were treatment naive at the time of assessment. Twenty-nine (90.6%) patients had evidence of SRBD and all of them had OSA subtype. The Apnea–Hypopnea Index (AHI) indicating severity of OSA (mild 21.8%, moderate 34.4%, and severe 34.4%) correlated positively with tongue length, uvula length, and uvula thickness on MRI. However, AHI had no correlation with the severity of GH excess or disease activity or individual parameters such as weight, body mass index, blood pressure, hemoglobin A1c, serum human growth hormone, and insulin-like growth factor-1 level. Conclusion SRBD, the generally overlooked comorbidity, is highly prevalent in subjects with acromegaly and is almost always due to OSA, the severity of which correlates positively with tongue and uvula size. Well-designed, long-term follow-up study on a large cohort of acromegalic patients is required to improve our understanding on the subject.


2021 ◽  
Vol 26 (2S) ◽  
pp. 4386
Author(s):  
K. S. Krupichka ◽  
M. V. Agaltsov ◽  
R. P. Myasnikov ◽  
O. M. Drapkina

The problem of heart failure (HF) is one of the central problems in modern cardiology due to its high prevalence among the population and high mortality. In turn, sleep-related breathing disorders (SRBD) are widespread in patients with HF and are associated with both the progression of the underlying disease and a decrease in the quality of life. For the first time, periodic breathing, as one of the types of sleep breathing disorders, was described in patients with HF.Further study of the issue showed a high prevalence of other types of SRBD among patients with HF The article discusses the physiology of sleep breathing monitoring in a healthy person and the pathophysiology of SRBD. The pathogenesis of central sleep apnea and its relationship with HF are discussed in detail. In addition, the mechanisms of the adverse effect of obstructive sleep apnea and HF are highlighted.


Author(s):  
Natalie Jewitt ◽  
Julia Orkin ◽  
Eyal Cohen ◽  
Indra Narang ◽  
Suhail Al-Saleh ◽  
...  

Abstract Objectives To determine whether a change in clinical management (e.g., new tracheostomy or adenotonsillectomy) occurred following a polysomnogram (PSG) in children with medical complexity (CMC) and to explore whether families’ goals of care (regarding results and treatment implications) were discussed prior to the completion of a PSG. Methods All CMC enrolled in a complex care program at the Hospital for Sick Children, Canada, who underwent a baseline PSG from 2009 to 2015 were identified. Exclusion criteria included (1) PSGs for ventilation titration and (2) PSGs outside the study time frame. Health records were retrospectively reviewed to determine demographics, medical histories, families’ wishes, PSG results, and their impact on clinical care. Descriptive statistics were used to summarize results. Results Of 145 patients identified, 96 patients met inclusion criteria. Fifty (52%) were male. Median age was 3 years. Forty-eight (50%) were diagnosed with clinically significant (i.e., moderate to severe obstructive sleep apnea, central sleep apnea, and/or hypoventilation) sleep-related breathing disorders. Of those diagnosed, 9 (19%) had surgery, 25 (52%) underwent respiratory technology initiation, and 3 (6%) underwent both. In the remaining 11 (23%) patients, treatment was either considered too risky or did not align with the families’ wishes. Only 3 of 96 patients had clear documentation of their families’ wishes prior to PSG completion. Conclusion Recognizing the burden of medical tests for both the child and the health care system, a process of shared-decision making that includes clarifying a family’s wishes may be prudent prior to conducting a PSG.


SLEEP ◽  
2020 ◽  
Vol 43 (Supplement_1) ◽  
pp. A428-A428
Author(s):  
G Gulati ◽  
D J Schwartz ◽  
S Nallu ◽  
K Bell ◽  
L Wittine ◽  
...  

Abstract Introduction Sleep-related breathing disorders are common after TBI. To date, two single site studies have reported divergent findings in post-TBI patients with one reporting predominantly obstructive sleep apnea (OSA, Holcomb et al., 2016) and the other central sleep apnea (CSA, Webster and Bell, 1998). The purpose of this analysis is to explore prevalence, demographics, and injury characteristics of patients with a clinical diagnosis of CSA in a recently-completed multicenter comparative-effectiveness trial during inpatient rehabilitation following moderate to severe TBI. Methods Participants in a six-center diagnostic comparative effectiveness trial underwent Level-1 polysomnography (PSG) during inpatient rehabilitation for TBI. Studies were scored at a centralized scoring center by one of two certified PSG technicians with final interpretation by a board-certified sleep medicine physician. Results 21 of 248 (8.5%) participants evidenced elevated CSA indices >5. Predominant CSA was rare (n=3 [1.2%], age range: 36-59; 100% male; 33-52 days post-TBI). One participant was on opioid, anti-depressant and antiepileptic drugs, one was on an antiepileptic, and another was on an opioid. PAP therapy was not initiated during PSG thus there was no treatment-emergent CSA. All had a central apnea-hypopnea index (AHI) in the moderate to severe range (29-49). Two out of the three had a GCS <8 and one participant had a GCS of 14. Conclusion In this multi-center clinical trial, predominant CSA was rare. The common practice of reducing polypharmacy in order to minimize sedation and optimize mental status in specialized inpatient brain-injury rehabilitation programs may contribute to the low CSA incidence in this cohort. Attention to medication side-effects and their influence on sleep-related breathing should be routinely considered. Support PCORI (CER-1511-33005), GDHS (W91YTZ-13-C-0015) for DVBIC, NIDILRR (90DPTB0008-03-00; 90DPTB0013-01-00).


2017 ◽  
Vol 54 (1) ◽  
pp. 13-18 ◽  
Author(s):  
Katelyn G. Bennett ◽  
Adina B. Robinson ◽  
Steven J. Kasten ◽  
Steven R. Buchman ◽  
Christian J. Vercler

Objective To determine if all cleft surgeons uniformly and adequately evaluate patients with cleft for obstructive sleep apnea (OSA) and consider OSA in treatment of velopharyngeal dysfunction (VPD). Design A 22-question survey was administered via e-mail to 1117 surgeons who were members of the American Cleft Palate-Craniofacial Association. Logistic regression was used to determine if management was affected by years in practice, clinical volume, field of training, and region of practice. Main Outcome Measures We sought to determine if years in practice, clinical volume, region of practice, and surgical specialty affected surgeons’ evaluation of OSA and their approaches to VPD. Results A total of 231 surgeons responded (21% response rate), and 67% stated that they had trained in plastic surgery. With increasing years of practice, surgeons were less likely to refer patients for preoperative and postoperative sleep studies ( P = .00 and P = .001, respectively), screen patients for sleep apnea ( P = .008), or change their management based on a sleep study ( P = .001). There were no significant differences in screening or testing for OSA based upon clinical volume. Among those surveyed, otolaryngologists were more likely to refer patients for postoperative sleep studies ( P = .028). Surgeons in the Southeast were more likely to change their management based upon a sleep study ( P = .038). Conclusions Statistically significant trends in screening and testing for OSA in the setting of VPD were identified by this survey. Notably, older surgeons were less likely to investigate OSA in their patients, and not all specialties equally refer for postoperative sleep studies.


2013 ◽  
Vol 11 (3) ◽  
pp. 296-301 ◽  
Author(s):  
Nii K. Addo ◽  
Sheila Javadpour ◽  
Jothy Kandasamy ◽  
Paul Sillifant ◽  
Paul May ◽  
...  

Object The association of Chiari malformation Type I (CM-I) with syndromic craniosynostosis (SC) in children is well established. Central sleep apnea (CSA) may subsequently occur. However, sleep studies performed in these patients have been focused mainly on assessing the severity of obstructive sleep apnea. Therefore, the incidence and management of CSA in these patients remains poorly defined. Authors of this study aimed to assess the efficacy of foramen magnum decompression (FMD) in resolving CSA, initially detected incidentally, in a small cohort of patients with CM-I and SC. Methods The clinical data for 5 children who underwent FMD for CSA at Alder Hey Children's Hospital between December 2007 and December 2009 were retrospectively analyzed. Outcomes were evaluated with respect to FMDs by utilizing pre- and postdecompression sleep studies. Of the 5 patients, 2 had Crouzon syndrome and 3 had Pfeiffer syndrome. Results Patient age at the time of surgery ranged from 1.1 to 12.6 years (median 4.1 years). The median postoperative follow-up was 3.6 years. Sleep studies revealed that 2 children experienced a > 80% reduction in CSAs at 1.5 and 21 months after decompression. The remaining 3 children experienced a > 60% reduction in CSAs when reevaluated between 2 and 10 months after decompression. The associated central apnea index improved for all patients. Conclusions Findings suggested that FMD is an effective treatment modality for improving CSA in patients with SC and associated CM-I. The use of multimodal polysomnography technology may improve the evaluation and management of these patients.


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