ANRED: Prader-Willi Syndrome

Prader-Willi is a genetic problem for which, sadly, there is no cure. It is demanding of families and caregivers, who often feel frustrated, exhausted and emotionally drained. Prader-Willi is sometimes mistaken for bulimia, but there are significant differences.

We have just learned that our child has Prader-Willi syndrome. It looks like bulimia to us. What's the difference?

Prader-Willi syndrome is the result of a genetic defect that affects one in every ten to fifteen thousand children. It involves a dysfunction in the hypothalamus, which is part of the brain. The mechanism that signals satiety when sufficient food has been eaten is absent or non-functioning. People with Prader-Willi syndrome exhibit the following characteristics:

Constant, ravenous, unremitting hunger that cannot be satisfied by even huge amounts of food. An implacable drive to eat. Powerful food cravings that do not abate after even life-threatening binges.

Mental retardation

Obesity due to over-eating

Medical problems associated with obesity, such as diabetes, heart disease, gall bladder disease, sleep apnea, blood vessel disease, etc.

Behavior problems, including obsessively repetitive behaviors such as nail biting. Some of these behaviors can harm self and others.

Speech problems

Muscle weakness, slack muscle tone

Skin that is easily irritated. May scratch own skin to the point of bloody abrasions and sores

Short stature, almond-shaped eyes, abnormal growth

Manipulative, especially in service of getting food.

Tantrums when frustrated. PW patients are often stubborn, flying into rages when they are denied what they want (usually food).

Management strategies

There is no cure for Prader-Willi syndrome, nor is there any significantly effective treatment at this time (2008). Gene therapy holds some promise, but given the current political atmosphere in the U.S., not even experimental treatments are expected to become available any time soon.

People who have Prader-Willi syndrome cannot live independently. They need supervision 24/7. Their lives are difficult, and so are the lives of their caregivers, whether they be family members or mental health staff. To ease the strain on everyone, the following conditions should prevail:

A highly structured physical environment. Don't rearrange furniture in the person's area. Put the same toys and objects in the same place every day. Don't bring in, or take out, several new items -- or people -- all at once. It may be in the person's best interests to let her/him live in one or two rooms and close off the rest of the premises to reduce over-stimulation and opportunities for trouble.

An atmosphere of pervasive calm. Soothing colors, soft music, soft lights. No loud noises. If caretakers become angry or otherwise stressed, they should take a time-out and leave the area for a few minutes so as to not trigger an emotional storm.

A nutritious but low-calorie meal plan, preferably designed by a physician and registered dietitian. Even if the person insists it is cruelly inadequate, the meal plan must be enforced to reduce or eliminate the medical problems associated with overeating and obesity. Remember, even if the person were allowed to gorge, s/he would never feel satisfied. (Note: the goal here is healthy nutrition, NOT starvation. Ask your physician to OK the meal plan. Do NOT adopt one from a diet book or Web site.)

Restricted access to food. Because of the person's unremitting drive to eat, locks must be placed on the refrigerator and on all cupboards and food storage cabinets within reach. Yes, it's an inconvenience, but if not done, the person will undermine the management plan in short order.

A predictable, unchanging routine from day to day, week to week, and year to year -- getting-up times, nap and bed times, meal times, outing days, activities, visits from outsiders, and so forth. PW patients are easily frustrated and angered by change. They are happiest when they know what to expect and it appears on schedule.

Calm, loving acceptance. People with Prader-Willi syndrome are not being willful or deliberately naughty and frustrating. They often learn to be manipulative, but they do so in service of a brain malfunction that is little understood at present. They do NOT deserve blame or punishment. Besides, those strategies will accomplish nothing; they will only make matters worse. Neither do patients deserve permissiveness. Permissiveness is not love. These people cannot self-regulate and will misuse freedom to their own destruction.

Discussion

People who have Prader-Willi syndrome will lie, cheat and steal to get food in attempts to assuage their chronic, overwhelming hunger. Unfortunately, even huge amounts of food will not satisfy that hunger. If access to food is not controlled, people with Prader-Willi will gorge until they die, or until they become so obese that they die from cardiovascular disease, diabetes or other consequences of overeating. They do not vomit or purge in other ways as bulimics do.

Paradoxically, Prader-Willi babies are usually thin and weak. They eat very poorly. Once they do begin to eat, however, they do not stop.

Sometimes Prader-Willi is mistakenly thought to be bulimia. Bulimia is a psychosomatic disorder. The person tries to solve psychological problems and improve self-esteem by losing weight. Food restriction leads to hunger, that leads to binge eating, that leads to self-induced vomiting and other forms of purging. These unhealthy weight loss behaviors hurt the body.

Prader-Willi, on the other hand, is the result of a genetic defect that causes a brain malfunction. The person shows little concern about body image and gorges because the physiological brakes that control appetite and hunger are absent or defective.

Researchers have not yet discovered what causes the genetic defect that leads to Prader-Willi. It does not seem to run in families. It involves a problem in the hypothalamus, a major control center in the brain that signals satiety when sufficient food has been consumed for nourishment.

Prader-Willi syndrome is difficult, if not impossible, to manage in the home. Psychiatric medications may help manage some aspects of the problem, but there is no cure. You have our best wishes if you are caring for a person with this sad and frustrating problem.

Note: If you have questions about the "Dr. Phil" show that aired on November 3, 2005, in the U.S., you will find archived material on the Dr. Phil Web site. Our thanks to him and to the CBS network for providing information about this little-known and misunderstood problem. (Show also includes an update about a woman with severe anorexia nervosa.)

Please Note: ANRED information is not a substitute for medical or psychological evaluation and treatment. For help with the physical and emotional problems associated with eating disorders, talk to your physician and a mental health professional.

Page updated May 17, 2008