Obstructive events in children with Prader–Willi syndrome occur predominantly during rapid eye movement sleep

Polytarchou, Anastasia; Katsouli, Georgia; Tsaoussoglou, Marina; Charmandari, Evangelia; Kanaka‐Gantenbein, Christina; Chrousos, George P.; Kaditis, Athanasios G.

doi:10.1016/j.sleep.2018.09.026

Cited by 4 publications

(4 citation statements)

References 32 publications

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“…Compared to reported values in typically developing children and in children with PWS, patients with SYS spend similar lengths of time in sleep stages N1, N2, and N3 (slow‐wave sleep), with possibly less time in REM sleep 16 . We hypothesize that this may be due to more severe sleep‐disordered breathing leading to REM disruption as has been shown in other studies of OSA, as OSA frequently worsens in REM attributed to atonia and increased frequency of upper airway collapse 14 . Whether this reflects a unique feature of PWS or other disorders with hypotonia is an interesting hypothesis requiring further study as REM‐predominance has been primarily described in children with more severe OSA as occurs with hypotonia 17,18 .…”

Section: Discussionsupporting

confidence: 53%

“…16 We hypothesize that this may be due to more severe sleep-disordered breathing leading to REM disruption as has been shown in other studies of OSA, as OSA frequently worsens in REM attributed to atonia and increased frequency of upper airway collapse. 14 is reported in the general population, and both these patients were older than 2 years. 16,[22][23][24][25][26] In both cases, central events were only~33% of events which may reflect a reflex apneic pause following upper airway obstruction, subsequent deep inspiration, and pulmonary stretch receptor response (Hering-Breuer reflex) rather than a central pathologic process.…”

Section: Discussionmentioning

confidence: 76%

“…However, severe OSA was found in 48% of those studied and appears to be more prevalent than what has been reported in case series of PWS, although this may reflect the need to obtain polysomnography in a larger group of patients with SYS to accurately assess the burden of disease. In some studies, OSA has been shown to correlate with increasing obesity in PWS, however other studies have not shown an association with obesity, and OSA may exist in the absence of obesity 13–15 . Severe obesity is less common in SYS, suggesting that the increased frequency of OSA found in patients with SYS may be independent of obesity 2 .…”

Section: Discussionmentioning

confidence: 99%

“…In some studies, OSA has been shown to correlate with increasing obesity in PWS, however other studies have not shown an association with obesity, and OSA may exist in the absence of obesity. [13][14][15] Severe obesity is less common in SYS, suggesting that the increased frequency of OSA found in patients with SYS may be independent of obesity. 2 of growth hormone has been described as a risk factor for sudden death in PWS, careful evaluation for sleep-disordered breathing should be performed before initiation of growth hormone in patients with SYS.…”

Section: Discussionmentioning

confidence: 99%

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Polysomnographic characteristics and sleep‐disordered breathing in Schaaf‐Yang syndrome

Powell

Schaaf

Rech

et al. 2020

Pediatric Pulmonology

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Introduction: Schaaf-Yang syndrome (SYS) is a genetic disorder caused by truncating variants in the MAGEL2 gene located in the maternally imprinted Prader-Willi syndrome (PWS) region at 15q11-13. The SYS phenotype shares features with PWS, a syndrome with known high incidence of sleep disorders. However, the spectrum of sleep-disorders in SYS has not been described. Methods: We performed a retrospective analysis of polysomnograms from 22 patients in an international SYS cohort. Sleep characteristics for individuals with the common c.1996dupC variant (n = 10) were compared to other truncating variants (n = 11). Results: We collected 33 sleep study reports from 22 patients, ages 2 months-18.5 years (mean 6.5 years). Mean sleep efficiency was 70.5% (range 45%-93%) with arousal index 14.1/h (1.2-45/h). The mean apnea-hypopnea index (AHI) was 19.1/h (0.9-49/h) with mean obstructive AHI (oAHI) of 16.3/h (0.6-49/h). Mean central apnea index was 2.8/h (0-14/h). Mean oxygen desaturation index was 20.8/h (range 0-85/hr). Obstructive sleep apnea (OSA) was diagnosed in 81%, and 62% had moderate or severe OSA. Elevated central apnea index occurred in 9.5%. Comparison by genotype groups and age did not reveal any difference in OSA findings. Periodic limb movement index (PLMI) was elevated in 4/15 (26%). Conclusion: OSA is frequently identified on polysomnography in patients with SYS. The mean PLMI is elevated compared to normative data. Patients with SYS should have routine polysomnography screening due to high risk of sleep disorders.

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Section: Discussionsupporting

confidence: 53%

Section: Discussionmentioning

confidence: 76%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Polysomnographic characteristics and sleep‐disordered breathing in Schaaf‐Yang syndrome

Powell

Schaaf

Rech

et al. 2020

Pediatric Pulmonology

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Prader–Willi Syndrome

Gozal

2021

Pediatric Sleep Medicine

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Preserved Sleep for the Same Level of Respiratory Disturbance in Children with Prader-Willi Syndrome

Tan

Kang

et al. 2022

IJMS

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Debate remains as to how to balance the use of recombinant human growth hormone (rhGH) as an important treatment in Prader-Willi syndrome (PWS) with its potential role in obstructive sleep apnea. This single-center, retrospective study assessed differences in overnight polysomnography results between children with and without PWS and changes in respiratory parameters before and after the initiation of rhGH treatment in those with PWS. Compared with age-, sex-, and body-mass-index-matched controls (n = 87), children with PWS (n = 29) had longer total sleep time (434 ± 72 vs. 365 ± 116 min; p < 0.01), higher sleep efficiency (86 ± 7 vs. 78 ± 15%; p < 0.05), and lower arousal events (8.1 ± 4.5 vs. 13.0 ± 8.9 events/h; p < 0.05). Mean oxygen saturation was lower in PWS children (94.3 ± 6.0 vs. 96.0 ± 2.0%; p < 0.05), with no other differences in respiratory parameters between groups. Eleven children with PWS (38%) met the criteria for further analyses of the impact of rhGH; polysomnography parameters did not change with treatment. Compared with other children undergoing polysomnography, children with PWS had more favorable markers of sleep continuity and lower oxygen saturation for the same level of respiratory disturbance. rhGH administration was not associated with changes in respiratory parameters in PWS.

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Obstructive events in children with Prader–Willi syndrome occur predominantly during rapid eye movement sleep

Cited by 4 publications

References 32 publications

Polysomnographic characteristics and sleep‐disordered breathing in Schaaf‐Yang syndrome

Polysomnographic characteristics and sleep‐disordered breathing in Schaaf‐Yang syndrome

Prader–Willi Syndrome

Preserved Sleep for the Same Level of Respiratory Disturbance in Children with Prader-Willi Syndrome

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