Abstract
Prader-Willi syndrome (PWS) is a neurodevelopmental disorder caused by the absence of paternally expressed, imprinted genes on chromosome 15q11-13. Individuals with PWS characteristically have poor feeding and lack of appetite in infancy, followed by the development of weight gain and then uncontrolled appetite and lack of satiety, sometime after the age of two. The overwhelming drive to eat is coupled with reduced energy expenditure and decreased caloric requirements, thus, individuals with PWS will become severely obese unless their food intake is strictly controlled. The mechanisms underlying hyperphagia in PWS remain incompletely understood, and to date no drugs have proven effective in controlling appetite. However, clinical trials have started for several medications, which may provide therapeutic options for those with PWS. These medication trials may also provide insight into potential treatments for obesity in the general population. Ideally, these treatments will help alleviate the complex metabolic issues that are part of this syndrome.
Highlights
Prader-Willi syndrome (PWS) is a complex multisystem syndrome that occurs with a frequency of approximately 1/15,000 to 1/30,000 and has significant morbidity, including central hypotonia, developmental disabilities, behavioral issues, growth hormone deficiency and hypogonadism, and obesity compounded by a centrally driven excessive appetite
Growth hormone (GH) deficiency is present in almost all children, and many adults, with PWS
It is known that the sleep/wake cycle is abnormal in individuals with PWS, many of whom suffer from excessive daytime sleepiness and narcolepsy, a disorder caused by abnormally low hypocretin/orexin
Summary
Prader-Willi syndrome (PWS) is a complex multisystem syndrome that occurs with a frequency of approximately 1/15,000 to 1/30,000 and has significant morbidity, including central hypotonia, developmental disabilities, behavioral issues, growth hormone deficiency and hypogonadism, and obesity compounded by a centrally driven excessive appetite (hyperphagia). It is the most commonly known genetic cause of obesity. It is known that the sleep/wake cycle is abnormal in individuals with PWS, many of whom suffer from excessive daytime sleepiness and narcolepsy, a disorder caused by abnormally low hypocretin/orexin. Other medications evaluated to date in PWS have proven ineffective [14,15] or have been associated with unacceptable side effects [16]
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