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Sleep apnoea in the Prader-Willi syndrome
1University Department of Neurology, King's College School of Medicine and Dentistry and Institute of Psychiatry, London.
Insights
Excessive daytime sleepiness affects two-thirds of individuals with Prader-WWilli syndrome, often linked to central sleep issues. Obstructive sleep apnea can worsen sleepiness, especially in obese patients.
Area of Science:
- Neurology
- Sleep Medicine
- Genetics
Background:
- Prader-Willi syndrome (PWS) is a complex genetic disorder.
- Sleep disturbances are common in PWS but not fully understood.
- Excessive daytime sleepiness (EDS) significantly impacts quality of life in PWS patients.
Purpose of the Study:
- To investigate the prevalence and nature of sleep disturbances in children and young adults with PWS.
- To identify the underlying causes of excessive daytime sleepiness in this population.
- To evaluate the effectiveness of continuous positive airway pressure (CPAP) for sleep apnea in PWS.
Main Methods:
- Polysomnography was used to assess sleep structure and respiratory events.
- Epworth Sleepiness Scale and sleep latency measures quantified daytime sleepiness.
- Continuous positive airway pressure (CPAP) was trialed in subjects with symptomatic sleep apnea.
Main Results:
- 12 out of 17 subjects reported excessive daytime sleepiness.
- Polysomnography revealed sleep structure abnormalities and frequent apneas in most subjects.
- CPAP treatment improved EDS in 3 out of 5 obese subjects who tolerated it.
Conclusions:
- Excessive daytime sleepiness is highly prevalent in Prader-Willi syndrome, primarily of central origin.
- Obstructive sleep apnea, particularly in obese individuals, can exacerbate sleepiness.
- Targeted sleep interventions may improve outcomes for PWS patients with sleep disorders.
Abstract:
Seventeen children and young adults with the Prader-Willi syndrome were investigated. Twelve of 17 subjects had excessive daytime sleepiness as determined by their own or parental report, a high Epworth Sleepiness Scale score or a short mean sleep latency. Night sleep disturbances were reported in seven subjects with snoring, mouth-breathing, breath-holding and occasional nocturnal enuresis. Polysomnography showed abnormalities of sleep structure with rapid eye movements without reduction in muscle tone at sleep onset in 12 subjects, and a high respiratory event index with frequent brief apnoeas, particularly in REM sleep, in 16 subjects. Most apnoeas were not accompanied by arousals. Seven subjects, all of whom were obese, were considered to have symptomatic sleep apnoea and were treated with continuous positive airway pressure (CPAP) but this was poorly tolerated in two. Five subjects continued CPAP over a 6-month period resulting in subjective improvement in excessive daytime sleepiness in 3. Excessive daytime sleepiness occurs in approximately two-thirds of subjects with the Prader-Willi syndrome. It is mainly of central origin but obstructive sleep apnoea may increase sleepiness, particularly in obese subjects.