Date: May 1- May 31, 2022
What is Prader Willi Syndrome?
Prader Willi Syndrome is a genetic disorder resulting from an abnormality of chromosome 15 such as a loss of active genes. In most cases (70%) the paternal copy is missing and in some cases (25%), will exhibit two maternal copies of Chromosome 15. The genetic disorder was initially described by John Langdon Down and was named after Drs. Andrea Prader, Heimrich Willi and Alexis Labhart in 1956 and is found in 1 in 20,000 births affecting both sexes. It is also the most common recognized genetic form of obesity.
During childhood, individuals diagnosed with Prader-Willi Syndrome tend to eat constantly leading to obesity and for some, type 2 diabetes will develop. This complex disorder affects appetite,growth, metabolism, cognitive functioning and behavior.
Signs and Symptoms
People with Prader-Willi Syndrome (PWS) tend to never feel full (hyperphagia) which leads to constant eating. Signs in infants include, problems with strength, coordination and balance. Often there are feeding problems at birth, delayed speech and gross motor development. Children may be born with almond-shaped eyes and undeveloped sexual organs. Cognitive disabilities and developmental delays may also be present.
As children began to grow, constant craving for food often leads to behavior challenges including hoarding food, eating frozen food and food left in the garbage causing controlling or manipulative behavior.
Medical Issues
Medical concerns may include the following:
- Sleep Apnea
- Respiratory/Breathing
- High pain tolerance
- Severe stomach illness
- Difficulty with vomiting reflex
- Excessive appetite
- Binge eating
- Eye problems
- Choking
- Hypothermia
- Leg Swelling
- Consuming unsafe items
- Negative reactions to medications
The Foundation for Prader Research puts out daily fact sheets during awareness month. You can subscribe here. Download here for a fact sheet.
#praderwillawarenessmonth
