Prader–Willi Syndrome (PWS) is a complex genetic disorder that manifests with a variety of physical, behavioral, and cognitive challenges. Typically identified in early childhood, PWS is characterized by hypotonia (poor muscle tone), feeding difficulties, and developmental delays. As children grow, they often exhibit hyperphagia (an insatiable appetite) leading to obesity if not carefully managed. Distinctive facial features, such as almond-shaped eyes and a thin upper lip, are also common among affected individuals.
The root cause of PWS lies in the loss of function of specific genes on chromosome 15. This genetic anomaly disrupts the normal functioning of the hypothalamus, the brain region responsible for regulating hunger and satiety. Consequently, individuals with PWS have high levels of ghrelin, a hormone that stimulates appetite, contributing to their constant feeling of hunger. Beyond the physical symptoms, children with PWS may face learning disabilities, behavioral issues like temper tantrums, and compulsive behaviors such as skin picking.
Managing PWS requires a multidisciplinary approach. Early interventions, including strict dietary supervision to control weight, growth hormone therapy to address short stature and improve muscle tone, and structured educational programs tailored to cognitive abilities, are essential. Additionally, behavioral therapies can help address the psychological challenges associated with the syndrome. With comprehensive care and support, individuals with PWS can lead fulfilling lives, although continuous monitoring and intervention remain crucial throughout their development.
