Prader-Willi syndrome is a rare disorder present at birth that results in a number of physical, mental and behavioral problems.
Prader-Willi syndrome is a rare disorder present at birth that results in a number of physical, mental and behavioral problems. A key feature of Prader-Willi syndrome is a constant sense of hunger that usually begins after the first year of life.
People with Prader-Willi syndrome want to eat constantly and usually have trouble controlling their weight. Many complications of Prader-Willi syndrome are due to obesity.
If your child has Prader-Willi syndrome, a team of specialists can work with you to manage your child's symptoms and reduce the risk of developing complications.
Signs and symptoms of Prader-Willi syndrome generally occur in two stages. Signs of the disorder that may be present in the first year of life include:
From about ages 1 to 6, other signs of Prader-Willi appear. These problems will remain present throughout life and require careful management or treatment. These signs may include:
Other signs and symptoms of Prader-Willi syndrome may include:
Prader-Willi syndrome is a genetic disorder, a condition caused by an error in a gene or genes. Although the exact genes responsible for Prader-Willi syndrome haven't been identified, the problem is known to lie in a particular region of chromosome 15.
With the exceptions of genes related to sex characteristics, all genes come in pairs, one copy inherited from your father (paternal gene) and one copy inherited from your mother (maternal gene). For most types of genes, if one copy is "active," or expressed, then the other copy is also expressed.
However, some types of genes act alone. In other words, it's normal with certain genes for the paternal gene to be expressed and the maternal gene to be "silent." Therefore, if there's an error with the paternal gene, that piece of genetic information is essentially missing.
Prader-Willi syndrome occurs because certain paternal genes that should be expressed aren't for one of the following reasons:
The genetic defect of Prader-Willi syndrome disrupts the normal functions of a portion of the brain called the hypothalamus. Among its many functions, the hypothalamus controls hunger and thirst and releases hormones that prompt the release of other substances responsible for growth and sexual development. A malfunctioning hypothalamus — caused by the defect on chromosome 15 — interferes with each of these processes, resulting in uncontrollable hunger, stunted growth, sexual underdevelopment and other characteristics of Prader-Willi syndrome.
Defective or missing portions of paternal genes responsible for Prader-Willi syndrome usually occur randomly. This means that in most instances, Prader-Willi syndrome can't be prevented. However, in a small number of cases, a genetic mutation inherited from the father may cause Prader-Willi syndrome.
If you have a child with Prader-Willi syndrome and would like to have another baby, consider seeking genetic counseling. A genetic counselor may help determine your risk of having another child with Prader-Willi syndrome.
Many of the possible complications of Prader-Willi syndrome result from obesity. In addition to having constant hunger, people with the disorder have low muscle mass, which requires lower than average calorie needs. This combination of factors makes a person prone to obesity and the medical problems related to obesity. These possible complications include:
Other complications arise from hypogonadism, a condition in which your sex organs don't secrete sufficient amounts of the sex hormones testosterone (males) and estrogen and progesterone (females). These may include:
Eating large amounts of food quickly, called binge eating, can cause your child's stomach to become abnormally distended (gastric dilatation). Binge eating can also cause choking and any of the other complications associated with obesity.
Prader-Willi syndrome, to determine the cause. The presence of other signs, such as almond-shaped eyes or narrowing of the head at the temples, may also prompt testing. In older children, behavioral problems and weight gain are often the key diagnostic signs of the disorder.
A definitive diagnosis can almost always be made with a laboratory test. Special genetic tests can identify abnormalities in your child's chromosomes that are characteristic of Prader-Willi syndrome.
If you would like to know the latest treatment and management strategies, using conventional and scientifically backed complementary medicine and therapies, plus an assortment of helpful tips, hints and lifestyle remedies which will improve your overall quality of life, then call into our pharmacy and we'll be delighted to help.