Prader-Willi Syndrome is a rare disorder (chromosomal abnormality) affecting about 1 in 12,000 children. It is caused by a defect in chromosome 15 and is associated with cognitive impairment and in some cases with autism.

What are the symptoms of Prader-Willi Syndrome?

Children with Prader-Willi exhibit:

  • Poor sucking reflex in infancy
  • Cognitive impairment and learning difficulties
  • Sleep disorders
  • Overeating problems that lead to obesity
  • Delayed puberty
  • Underdeveloped genitals (hypoplasia)
  • Poor muscle tone
  • High resistance to pain
  • Unjustified anger
  • Uniform-shaped body
  • Short arms and legs.

How is Prader-Willi Syndrome diagnosed?

Diagnosis is based on clinical symptoms and is confirmed by blood tests (karyotype).

How is Prader-Willi Syndrome treated?

Children with PWS need systematic monitoring. Administration of growth hormone contributes to the development of muscle mass, increases stature and normalisation of facial features, while the administration of pituitary hormones improves the secondary characteristics of the sex. Proper treatment of symptoms is very important for the health of the child, as well as to facilitate his or her daily routine.