What is Prader-Willi Syndrome
PWS is a rare genetic spectrum disorder. It is usually caused by a partial deletion of chromosome 15 during conception. Other causes of PWS are uniparental disomy (UPD) which makes up about 30% of PWS cases and imprinting mutation which is a small percentage makes up the other..This deletion is random (there are only very rare cases that PWS could be unknowingly inherited), can happen to anyone regardless of age, race, gender or ethnicity and affects approximately 1 in 15 000 people. A newborn with PWS will most likely have hypotonia (extremely low muscle tone) at birth, a very weak cry, poor feeding ability, excessive sleepiness, and a general failure to thrive. As these children grow, the following is a list of symptoms that are also common with PWS:
• Low to no production of growth hormone.
• Lower than typical cognitive skills.
• Delay in milestones-smiling, independent sitting, speaking, walking etc.
• Poor feeding may continue- It is common for a child with PWS to have need of a feeding tube.
• Slower than typical growth.
• Strabismus- squint or crossed eyes.
• Thicker saliva- this can lead to dental issues.
• Lack of a gag reflex.
• Obsessive/compulsive behavior-skin picking.
• Trouble regulating body temperatures.
• Scoliosis- A curvature of the spine, usually requiring corrective surgery, bracing or casting.
• Delayed/incomplete sexual development
• Hyperphagia- The inability to feel full after eating due to a hypothalamus malfunction where it no longer sends the correct signals to the brain. This is the most challenging symptom of PWS. Complicating this symptom further is that those with PWS metabolize food at a slower rate and require between 30%-50% fewer calories than in a typical diet. Weight gain can happen on as few as 800 calories a day, therefore making obesity a lifelong challenge. Once the onset of hyperphagia happens, if unsupervised, some one with PWS will uncontrollable eat until the stomach ruptures, causing death.
How is PWS Diagnosed
Due to advances in medical research, early diagnoses through genetic testing is available. This early testing can diagnose PWS within days of birth.
Treatments for PWS
• There is currently no cure for PWS, however, because of early diagnosis, there are many treatments to aid in daily living and help children achieve milestones.
• Early education programs
• Speech therapy
• Occupational therapy- (fine motor skills development)
• Physio therapy- (gross motor skills development)
• Growth Hormone(GH) therapy- A very helpful therapy that helps to increase muscle mass, lower body fat, and improve cognitive skills.