What is Prader-Willi Syndrome?

Prader-Willi Syndrome (PWS) is a complex genetic condition characterised by neurological impairment causing an altered pattern of growth and development with associated cognitive disability and hyperphagia (obsessive overeating).

The incidence of PWS is 1 in 29,000 live births worldwide. There are a total of approx. 400,000 people worldwide and 800 people in Australia.

PWS applies equally to both genders and the diagnosis is confirmed by a blood test and genetic testing.

The specific characteristic associated with PWS:

Cognitive Disabilities including:

  • Mild to severe Intellectual impairment
  • Short term memory and sequential processing deficits
  • Language processing problems
  • Difficulties in self-reflection and conceptualisation resulting in reduced capacity for self-monitoring

Behavioural Phenotypes including:

  • Hyperphagia, a severe obsession with food and serious over eating.
  • Mood lability
  • Impulsiveness
  • Temper tantrums
  • Inactivity
  • Repetitive speech patterns
  • Relative weakness in social skills and adaptive behaviour

Other characteristics:

  • Scoliosis – requires treatment and medical reviews by orthopaedic with radiology to monitor the progress of their spinal curvature. Any degradation of the scoliosis will further aggravate their health and well-being. Their deformed physical appearance will further aggravate their anxieties and stressfulness.
  • High tolerance to pain – lacks the typical response to pain which mask signs of severe illness or injury. They have to rely on external support to carefully assess all increased fatigue and irritability for hidden illnesses and injuries.
  • Sleep Disorders – suffers from obstructive sleep apnoea, excessive daytime sleepiness which has an impact on their concentration and alertness to activity in their environment.
  • Reduced ability to vomit - suffers from a reduced ability to vomit. This defect poses a health risk especially if inedible objects are swallowed or poisons ingested from foraging. There is a need for constant supervision with PWS.
  • Dentition – faces increased risk of caries due to dental anomalies which require regular dental checks and careful dental care to avoid further dental diseases.
  • Aggressive Skin Picking – aggressively indulges in skin picking and scratching when under stress, boredom or feeling pressured which leads to persistent sores and infections.
  • Myopia – generally suffers from a squint and short sightedness and needs screening for myopia degradation regularly
For more information about Prader-Willi Syndrome, www.pws.asn.au or www.pws.org.au