What is Rett syndrome?

Rett syndrome is a complex neurological disorder which is genetic in origin. It affects mainly girls, and only a very few boys. Although present at birth, it becomes more evident during the second year.  It could occur in any family at any time.  Something goes wrong with the genetic makeup of the cells which become the baby.  Rett syndrome was first described in 1966 by the Austrian doctor, Andreas Rett. People with Rett syndrome are profoundly and multiply disabled and highly dependent on others for their needs throughout their lives.

Typically, children with Rett syndrome begin by developing fairly normally but go through a period of regression, losing acquired skills; this can be accompanied by distress and anxiety. 

At least one in every 10,000 females born has Rett syndrome. It is believed to be the second most common cause of severe and profound learning disability in girls. A large proportion of people who have Rett syndrome have a mutation, or fault, on the MECP2 gene on the X chromosome.