Prader-Willi syndrome is a rare genetic condition that causes a variety of physical, mental, and behavioural problems. One of the main symptoms of this condition is constant hunger which is usually the predominant feature for patients two years of age and older.
The signs and symptoms of this condition can vary among patients. Some patients show symptoms very early in life, while others might not develop symptoms until they are older. The symptoms can vary greatly during the different developmental phases of life.
Infants
Early Childhood into Adulthood
The cause of this condition is an error in one or more genes in patients. The specific causes of this condition have not yet been identified, but the problem appears to be associated with incorrect information in chromosome 15. The patient might have a defect on the gene, or they could be missing chromosome 15 entirely. The child can also have inherited two copies of this chromosome from the mother and none from the father.
This condition is often diagnosed based on signs and symptoms. Blood tests can be definitive for this condition, and genetic testing that is done with the blood will show the chromosome issues that lead to Prader-Willi syndrome.
This condition cannot usually be prevented. Even with genetic testing, it might not be possible to identify the gene problems that can lead to this condition in children that a couple might have.
Treatment of this condition should be begun as early as possible. This will improve the quality of life of the patient. Patients with this condition can often struggle with nutrition both in infancy and later in life as well. This means that nutritional support is always essential for these patients. A mental health professional might also need to be involved to help teach these patients to recognize when to eat and when to ignore signals of hunger.
Human growth hormone can be helpful in these patients to help increase muscle tone and reduce body fat. This hormone can also improve developmental issues that can be associated with this condition. Sex hormone treatments might also be needed for patients with underdeveloped sex organs that do not produce enough hormones to be healthy as they mature into adulthood.
Weight management can be very tricky for these patients as well, and sleep problems can also impact their quality of life. There are various therapies that can be used to help treat both of these problems to improve the quality of life of patients who are suffering from them. Many patients with this condition will need lifelong care and support, and it is wise for parents of these children to begin considering long-term care options for their children with this disorder from the time that diagnosis is made.