What does Prader-Willi syndrome?
What does Prader-Willi syndrome?
Prader-Willi syndrome (PWS) is a genetic multisystem disorder characterized during infancy by lethargy, diminished muscle tone (hypotonia), a weak suck and feeding difficulties with poor weight gain and growth and other hormone deficiency.
What causes Prader-Willi syndrome?
Prader-Willi syndrome is caused by a genetic change on chromosome number 15. Genes contain the instructions for making a human being. They’re made up of DNA and packaged into strands called chromosomes. A person has 2 copies of all their genes, which means chromosomes come in pairs.
Can people with Prader-Willi syndrome live a normal life?
There is no cure for PWS but with early diagnosis, appropriate support and treatment, people with PWS can live healthy, happy lives.
Where is Prader-Willi syndrome most common?
Table 3
| Country | # of Participants | % of Participants |
|---|---|---|
| United States | 842 | 78.8% |
| Canada | 90 | 8.4% |
| Australia | 29 | 2.7% |
| United Kingdom | 22 | 2.1% |
What part of the body does Prader-Willi syndrome affect?
Prader-Willi syndrome is a complex genetic disorder involving many different systems in the body, including the hypothalamus and pituitary gland, which are parts of the brain controlling hormones and other important functions such as appetite.
What gene causes Prader-Willi?
Prader-Willi syndrome is due to absence of paternally expressed imprinted genes at 15q11. 2-q13 through paternal deletion of this region (65–75% of individuals), maternal uniparental disomy 15 (20–30%), or an imprinting defect (1–3%). Parent-specific DNA methylation analysis will detect >99% of individuals.
Where does Prader-Willi syndrome occur?
The genetic changes that cause Prader-Willi syndrome occur in a portion of the chromosome, referred to as the Prader-Willi critical region (PWCR), around the time of conception or during early fetal development. This region was identified in 1990 using genetic DNA probes.
What does a child with Prader-Willi syndrome look like?
Additional features of this condition include distinctive facial features such as a narrow forehead , almond-shaped eyes, and a triangular mouth; short stature; and small hands and feet . Some people with Prader-Willi syndrome have unusually fair skin and light-colored hair .
What is a common characteristic of students with Prader-Willi syndrome?
A classic sign of Prader-Willi syndrome is a constant craving for food, resulting in rapid weight gain, starting around age 2 years. Constant hunger leads to eating often and consuming large portions. Unusual food-seeking behaviors, such as hoarding food, or eating frozen food or even garbage, may develop.