How to Understand Sleep and Sleep Problems in Patients with Prader-Willi Syndrome?

Prader-Willi syndrome (PWS) is a genetic disorder in which hypotonia is the predominant feature in infancy, whereas developmental delay, obesity and behavioral problems become more prominent during childhood and adolescence. Sleep problems occur frequently among individuals with PWS. Because of the development of obesity, craniofacial dysmorphism and muscular hypotonia, patients with PWS are at a risk of sleep-related breathing disorder (SRBD) such as obstructive sleep apnea (OSA) and congenital hypoventilation syndrome. The most common problem is excessive daytime sleepiness (EDS). Sleep disturbances and sleep apnea were initially listed as a minor diagnostic criterion in the diagnosis of PWS. Obstructive sleep apnea is associated with increasing body weight. Sleep apnea can interrupt the continuity of sleep, and these disruptions result in a decrease in both the quality and quantity of sleep. EDS can result from this decrease in sleep efficiency. In addition to SRBD, other sleep disorders have also been reported, such as hypersomnia, a primary abnormality of the circadian rhythm of rapid eye movement (REM) sleep and narcoleptic traits at REM sleep onset. Patients with patients may also present with primary abnormal ventilatory responses to hypoxia and hypercapnia, which might be exacerbated byobesity. Besides, patients with PWS have intrinsic abnormalities of sleep-wake cycles due to hypothalamic dysfunction. Since EDS has been correlated with the intrusion of REM sleep into wakefulness, individuals with PWS may appear to have narcolepsylike symptoms. This article will review the literature regarding sleep problems in patients with PWS and will suggest the optimal management to improve their health and behavioral disturbances as well as patients and families’ quality of life. Review Article