What is PWS?
What is Prader-Willi Syndrome?
Prader-Willi syndrome (PWS) is a complex genetic disorder resulting from abnormality on the 15th chromosome.
PWS causes low muscle tone, short stature if not treated with growth hormone, cognitive deficits, problem behaviors, and most notable, a chronic feeling of hunger which, when coupled with a metabolism that uses drastically fewer calories than normal, can lead to excessive eating and life-threatening obesity.
While PWS is rare, the Prader Willi Florida Association is a strong group offering support and hope to families, providers, and communities, starting with a new diagnosis and throughout the PWS journey.
Infancy (0-2 Years)
Infants with PWS often present with significant hypotonia (low muscle tone), which can lead to feeding difficulties and poor weight gain. This stage is marked by a weak cry, poor suck reflex, and general lethargy. Early intervention with specialized feeding techniques and support is crucial to address these issues. Growth hormone therapy may be initiated to help with growth and development. Early diagnosis and intervention can significantly improve the outcomes for infants with PWS.
Early Childhood (3-6 Years)
As children with PWS grow, they often experience developmental delays, particularly in motor skills and language. This stage is also when hyperphagia (an insatiable appetite) begins to emerge, usually around the age of 2-4 years. Parents and caregivers need to implement strict food supervision and control to prevent excessive weight gain. Behavioral issues, such as temper tantrums and stubbornness, may become more apparent. Continued growth hormone therapy, physical therapy, speech therapy, and occupational therapy are essential to support development and manage symptoms.
Late Childhood (7-12 Years)
During late childhood, the challenges of PWS become more complex. The risk of obesity increases due to hyperphagia, necessitating careful dietary management and regular physical activity. Behavioral problems may intensify, including obsessive-compulsive tendencies and difficulty with transitions. Academic support is often required as learning disabilities become more pronounced. Social skills training and behavioral therapy can help children navigate social interactions and manage frustrations.
Teenager Years (13-18 Years)
Other issues that people with PWS may deal with are: generalized hypotonia, short stature, small hands and feet, respiratory issues, small muscle mass, swallowing abnormalities, sleep apnea, hypothyroidism, incomplete sexual development, global developmental delays, chronic and difficult behaviors, skin picking, obsessive compulsive tendencies, chronic constipation, stomach necrosis and rupture following binge eating, scoliosis, hip dysplasia, osteoporosis, and cognitive impairment. Not all people with PWS experience all of these issues. A wide spectrum exsits in the severity of the syndrome. Some individuals are enrolled in special education and group homes, and others attend public school.
Adulthood (19+ Years)
In adulthood, individuals with PWS often require ongoing support to manage health and behavioral issues. The risk of obesity remains high, requiring lifelong dietary supervision and regular physical activity. Many adults with PWS live in supervised or semi-independent settings to ensure they receive appropriate care. Employment opportunities and social engagement are encouraged to enhance quality of life. Continued medical monitoring and mental health support are essential to address the multifaceted needs of adults with PWS.