Polysomnographic characteristics in patients with Prader-Willi syndrome
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Hsiang-Yu Lin1, Shuan-Pei Lin, Ching-Chi Lin
1Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
Insights
Sleep-disordered breathing and sleep disturbances are common in Prader-Willi syndrome (PWS). Obesity exacerbates hypoxemia and sleep disruption in PWS patients.
Area of Science:
- Pediatric Neurology
- Sleep Medicine
- Genetics
Background:
- Prader-Willi syndrome (PWS) is a complex genetic disorder affecting multiple systems.
- Sleep abnormalities, including sleep-disordered breathing (SDB), are frequently reported in PWS.
- Understanding sleep characteristics is crucial for managing PWS patients.
Purpose of the Study:
- To investigate the prevalence and characteristics of sleep-disordered breathing in children and adolescents with PWS.
- To analyze sleep architecture and oxygen saturation during sleep in this population.
- To determine the association between obesity, sleep parameters, and SDB in PWS.
Main Methods:
- Overnight polysomnography (PSG) including continuous EEG was performed on 30 PWS patients (age 1-19 years).
- Sleep stages, rapid eye movement (REM) latency, oxygen saturation (SpO2), respiratory disturbance index (RDI), and desaturation index (DI) were analyzed.
- Correlation analysis was used to assess the relationship between age-adjusted BMI and sleep/respiratory parameters.
Main Results:
- PWS patients exhibited significant sleep hypoxemia (nadir SpO2 77.2%) and sleep disruption (arousal index).
- The respiratory disturbance index (RDI) and desaturation index (DI) were elevated, indicating prevalent SDB.
- Higher age-adjusted BMI was significantly associated with lower baseline and nadir SpO2, increased RDI and DI, and a higher arousal index.
Conclusions:
- Sleep hypoxemia and sleep disruption are more common in PWS patients than in healthy children.
- Obesity is a significant factor contributing to more severe sleep-disordered breathing and sleep disruption in PWS.
- These findings highlight the need for routine sleep monitoring and weight management in PWS.
Abstract:
To evaluate the occurrence of sleep-disordered breathing and to clarify the characteristics of sleep among patients with Prader-Willi syndrome (PWS). Overnight continuous EEG-polysomnographic studies were performed in 30 patients with PWS (16 males and 14 females; mean age, 7.4 +/- 4.1 years; age range, 1-19 years) unselected for sleep disturbance. The baseline arterial oxygen saturation (SpO2) was 96.6 +/- 0.6%, with a nadir of 77.2 +/- 10.2%. The rapid eye movement (REM) latency was 67.4 +/- 30.0 min. The percent of total sleep time spent in sleep stages 1, 2, slow wave, and REM were 13.1 +/- 8.2%, 41.9 +/- 10.5%, 21.5 +/- 9.4%, and 21.1 +/- 5.7%, respectively. The respiratory disturbance index (RDI) was 5.8 +/- 3.7/hr and desaturation index (DI) was 8.1 +/- 7.3/hr, respectively. Age-adjusted BMI was associated with more severe hypoxemia during sleep (baseline SpO2, r = -0.53, P < 0.01; nadir SaO2, r = -0.65, P < 0.01; RDI, r = 0.37, P < 0.05; DI, r = 0.53, P < 0.01) and more sleep disruption (arousal index, r = 0.46, P < 0.01). There were no significant associations between gender or genotype pattern (deletion vs. uniparental disomy) and the results of polysomnography. Sleep hypoxemia and sleep disruption are more prevalent in patients with PWS than in normal children. Obesity in these patients is associated with more severe sleep-disordered breathing.
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