Prader- Willi syndrome (PWS) is a rare genetic disorder. This condition is characterized by

  1. Weak muscle tone ( Hypotonia)
  2. Feeding difficulties
  3. Poor growth
  4. Delayed development
  5. In childhood, the affected children develop an uncontrollable appetite which leads to chronic overeating (hyperphagia) and obesity. Some might also develop diabetes Mellitus ( type 2)
  6. Mild to moderate intellectual impairment
  7. Learning disabilities
  8. Behavioural problems including temper tantrums, stubbornness and compulsive behavior as picking on the skin
  9. Sleep abnormalities
  10. Distinctive facial featuresShort stature
    1. Narrow forehead
    2. Almond shaped eyes
    3. Triangular mouth
  11. Small hands and feet
  12. Unusual fair skin and light colored hair
  13. Under developed genitals in both boys and girls
  14. Delayed puberty or sometimes incomplete
  15. Infertility

Cause

It’s a genetic condition caused by the loss of gene function on chromosome 15.Chromosome 15 has small molecules called nucleolar (snoRNAs). These have a variety of functions including regulation of other types of RNA molecules. Studies suggest that loss of a particular group of snoRNA genes, known as SNORD116 cluster, may cause some signs and symptoms of PWS. There is another gene called OCA2 on chromosome 15, loss of which is researched to cause some symptoms of PWS

This condition affects 1 in 1000 to 30000 children worldwide.

Intervention

A multi dimensional approach to intervention including a host of professionals is needed. Pediatricians, Speech Language Pathologists,Physiotherapists, Occupational Therapists, Clinical psychologists, Special Educators and Behavioural specialists are all important to facilitate progress of children challenged with this disorder.