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Prader-Willi Syndrome (PWS) - NICHD - Eunice Kennedy Shriver National . . . PWS is the most common of the genetic disorders that cause life-threatening obesity in children The syndrome affects many aspects of the person's life, including eating, behavior and mood, physical growth, and intellectual development
What are the symptoms of Prader-Willi syndrome (PWS)? Individuals with PWS grow slowly and experience delays in reaching physical activity milestones (e g , standing, walking) 2 Children with PWS tend to be substantially shorter than other children of similar age They may have small hands and feet and a curvature of the back, called scoliosis
What are the treatments for Prader-Willi syndrome (PWS)? Sleep disorders are common with PWS Treating a sleep disorder can help improve the quality of sleep The same treatments that healthcare providers use with the general population can apply to individuals with PWS Physical therapy Muscle weakness is a serious problem among individuals with PWS
How do healthcare providers diagnose Prader-Willi syndrome (PWS)? In many cases of Prader-Willi syndrome, diagnosis is prompted by physical symptoms in the newborn If a newborn is unable to suck or feed for a few days and has a "floppy" body and weak muscle tone, a health care provider may conduct genetic testing for Prader-Willi syndrome 1,2,3 Formal diagnostic criteria for recognizing Prader-Willi syndrome depend on the age of the individual-specifically
NICHD Prader-Willi Syndrome Research Information To address the problem of excessive eating that occurs in PWS, researchers developed a questionnaire to study hyperphagia (Dykens et al , 2007), defined as excessive hunger and abnormally large intake of solid foods
Experimental therapy for Prader-Willi syndrome shows promise in mice PWS is caused by genetic changes along a section of chromosome 15 called the Prader-Willi critical region Under normal circumstances, genes in this region are inactive, or silenced, on maternal chromosome 15 but active on paternal chromosome 15 In PWS, however, the critical region on the paternal chromosome either is inactive or missing