|Logo for the Prader-Willi Syndrome Association|
Prader-Willi Syndrome encompasses a wide variety of signs and symptoms that can change and vary throughout life. Some of these include excessive amniotic fluid in utero, hypotonia, difficulties feeding and respirating as infants, hypogonadism, cryptorchidism in males, delayed puberty, delayed intellectual milestones and tendency to have lower IQs, hyperphagia starting in childhood, short stature, prominent nasal bridges, downturned mouth, almond shaped eyes, obesity (in fact, PWS is the most common genetic cause of morbid obesity in children today) and infertility. Cognitive abilities include poor speech and information processing, but often strong visuospatial skills. Deficits in short-term memory and attention span are also often observed. Many individuals with PWS exhibit compulsive behaviors, most commonly skin-picking. The effects on appetite and weight gain are thought to be linked in hypothalamus malfunctions.
There is currently no cure for PWS, although speech and occupational therapies have been shown to be effective, as well as a highly structured learning environment. Daily recombinant growth hormone injections are also recommended. As the most harmful health effect of the syndrome is the severe obesity caused by the characteristic insatiable appetite, sleep apnea, coronary artery disease and other common diseases of obesity are frequently comorbid with PWS and are treated accordingly.
In 2006, the British documentary Can't Stop Eating aired, which chronicled the lives of several individuals with PWS.
Foundation for Prader-Willi Research website.
Thank you for reading! I hope you have a great Labor Day weekend and continue to wish you luck in all your medical endeavors. :)