PWSA (USA) has been supporting research since 1983. The word, “symbiotic” means “a cooperative, mutually beneficial relationship between two people or groups.” All Prader-Willi syndrome support programs have a symbiotic relationship with research. We hope someday that research will make some of our programs less needed, but meanwhile research needs our programs to identify the issues and educate the researchers on the true needs of our children and families – and you to help us raise the fund to support this needed research.
We have continuous collaboration between out Scientific Advisory Board, our Clinical Advisory Board, our Research Committee (made up primarily of professional parents), and our staff to advance research. Between research, our support programs, our collaboration throughout the world, and your financial support, the progress we have made in the quality of our children’s lives due to this symbiosis would have made Dr. Prader and Dr. Willi very proud.
If you are looking for more information or have a question please email us at firstname.lastname@example.org
Prader-Willi Syndrome (PWS) is a complex genetic disorder that typically causes low muscle tone, short stature, incomplete sexual development, cognitive disabilities, problem behaviours, and a chronic feeling of hunger that can lead to excessive eating and life-threatening obesity.
Most cases of PWS are attributed to a spontaneous genetic error that occurs at or near the time of conception for unknown reasons. In 99% of cases it is not inherited. In a very small percentage of cases (2%), a genetic mutation that does not affect the parent is passed on to the child, and in these families more than one child may be affected. A PWS-like disorder can also be acquired after birth if the hypothalamic portion of the brain is damaged through injury or surgery.
The disorder occurs in 1 in 12,000 - 15,000 births, in both sexes and all races. The name of the syndrome is derived from the names of the doctors who first described the disorder in 1956.
PWS babies are born with very low muscle tone, so that it is extremely difficult for them to suck. In most cases they need to be fed initially by tube or special teats, or with a teat that has a larger hole than normal. Babies with PWS do not cry very often and if they do it is a quite a feeble cry. They also sleep a lot. They take longer than usual to reach developmental milestones such as independent sitting.
At about two years of age, or in some cases later, they will start putting on excess weight. This may be accompanied by a compulsion to eat and an obsession with food. Serious weight gain can result in obesity which can cause high blood pressure, respiratory difficulties, diabetes and other problems. Changes in behaviour may also become evident over time with tantrums, stubbornness and mood swings occurring.
There is no cure for Prader Willi syndrome. Early diagnosis will allow parents to manage their child’s diet and avoid the problems resulting from obesity, and will facilitate access to early intervention services and identify areas of need or risk.
People with PWS, from the onset of insatiable appetite, will never have control over their craving. It is not a matter of self control; their brain just doesn't register that they have had enough to eat. They require considerably fewer calories - 30 to 50% less than the average person - so they should never be put in a situation where they are left alone with food. They have a strong need for routine, sameness and consistency in their environment and poor emotional control. People with PWS can tire more easily and may fall asleep during the day.
People with PWS have a range of learning disabilities regardless of their IQ, which is often in the mild to borderline range of intellectual disability. However poor social and emotional skills inhibit the person performing up to that IQ. Rigid behaviour and tantrums are part of the syndrome.
Most children with PWS go to local kindergarten and primary school. Some may go through high school or attend a special school to learn life skills. People with PWS often work in supported employment. Independent living is rarely achieved.
Further Information and Support
Click here for the latest Australian research papers on Prader-Willi Syndrome.
Prader Willi Syndrome Association of Victoria
PO Box 92, Kew VIC 3101
Ph/Fax (03) 9889 7924
www.pws.asn.au (with information on other Australian support associations)
National Institutes of Health - USA
Prader-Will Syndrome Assocation - USAwww.pwsausa.org
Reviewed by Padraic Grattan-Smith, Sydney Children's Hospital, Australia