Prader Willi Syndrome
Prader-Willi syndrome is the most common known genetic cause of life-threatening obesity in children. The incidence rate of Prader-Willi syndrome is estimated to be one in 1/15000. It is a complex genetic disorder related to problems along chromosome 15. The precise location of the abnormality being designated as 15(q11-q13). The genes lacking in people with PWS have a major role in the regulation of appetite and metabolic levels, cognitive functions and behaviour patterns,
PWS causes organic malfunction to the hypothalamus in the brain. This malfunction is irreversible. Historically, treatments with pharmacotherapy, surgery, or behaviour modification techniques to abate the hunger have not been effective. Only very consistent, around the clock management controls keep people with PWS from tragic, premature death due to morbid obesity.
The universal words, “Love for our children” expresses our mission. The rarity of a disorder has no relevance to a parent, so until the cure is discovered, better methods of management must be found to share this information
IPWSA is a non-profit organization whose main focus is to improve the quality of life for all people with PWS and their families. By sharing and connecting we have created a network that moves people’s hearts and saves countless lives. Early Diagnosis and Early Management is our key objective.
The two hallmark characteristics of Prader-Willi syndrome are
- Chronic insatiable drive to eat
- Reduced energy output due to reduced muscle mass and muscle tone
These two factors can lead to excessive eating and life threatening obesity
In addition, the genetic condition typically causes cognitive disabilities, incomplete sexual development, and problem behaviours.
The INFANT is typically born with very weak muscle tone and experiences “failure to thrive”. In some cases failure to thrive can claim an infant’s life, since most infants cannot breast feed and have difficulty taking food from a bottle. Tube feeding is often required for several weeks or even months. Respiratory problems may require monitoring.
The TODLER requires occupational, physical and speech therapies. At two to four years of age a child with the syndrome typically begins to develop an insatiable appetite. Unless some type of significant management intervention is provided, the child will become extremely obese.
The ADOLESCENT without appropriate management may develop extreme obesity, often leading to life threatening health problems and social ridicule. Kitchens typically needs to be tightly guarded with vigilance. As the child ages into adolescence and wants to have more independence than is possible to allow, emotional issues need patience.
The ADULT typically is unable to live an independent life, largely due to a lack of appetite control and behavioural problems. Social life is limited due to the need for a lifetime of controlled environment and activities.
