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Prader-Willi Syndrome

What is Prader-Willi Syndrome?

Prader-Willi Syndrome (PWS) is a rare and complex genetic condition affecting roughly 400,000 people worldwide. PWS is non-inherited and linked to the deletion or incompleteness of genes on the 15th chromosomes. This chromosomal abnormality leads to neurological changes which cause altered growth patterns and development with associated cognitive disability and obsessive eating patterns (hyperphagia).  Prader-Willi Research Australia list many of the typically associated problems as;

  • Low muscle mass and muscle tone/
  • High propensity to obesity – only 50% of typical calorie intake is required
  • Impaired cognition
  • Mental illness including anxiety, bipolar and episodes of psychosis
  • Speech difficulties
  •  Gastric complications like constipation, poor digestion and slow gastric emptying
  • Poor temperature sensation and regulation
  • High pain threshold – making it difficult to diagnose illness
  • High threshold for vomiting
  • Behavioural issues and emotional immaturity
  • Slow sensory reception and processing
  • Scoliosis or kyphosis
  • Thick saliva and poor dentition
  • Strabismus
  • Skin picking
  • Sleep abnormalities including narcolepsy, excessive sleepiness and apnoea’s
  • Hip dysplasia
  • Short stature, small hands and feet
  • Lack of sexual maturity

To find out more click the links below, or refer to Interaction’s Prader-Willi website praderwilli.com.au

More Prader-Willi Syndrome Information