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Rett syndrome

What is Rett syndrome?

Rett syndrome is a rare neurological condition that almost exclusively affects females. Although Rett syndrome is present at birth, it is often only detected when major regression occurs at approximately one year of age, where previously acquired skills are lost. Individuals with Rett syndrome will have substantial communication and motor skill problems, where many are left unable to speak. The skills that are normally first lost include speech and the use of their hands. Over time, many continue to then lose previously acquired mobility skills.

Rett syndrome has been identified as having genetic elements but it is not hereditary. Individuals with Rett syndrome tend to have multiple, severe physical and learning disabilities, and will be dependent on others for support throughout their lives. It has also been found that a large proportion of individuals with Rett syndrome have a mutation on the MECP2 gene, located on the X chromosome. This mutation leads to changes in the properties of neurones in the brain that causes altered messages being sent to and from the brain. The symptoms individuals experience with Rett syndrome will depend on which area of the brain has been affected following the gene mutation.

As well as communication and mobility problems, complications that may be experienced include:

  • Difficulty breathing
  • Major digestion problems
  • Difficulty swallowing, chewing and eating
  • Seizures
  • Tremors
  • Orthopaedic abnormalities e.g. scoliosis
  • Anxiety
  • Disturbed sleep
  • Decreased cardiac and circulation function

Currently, there is no cure for Rett syndrome. However, many individuals will survive in to adulthood but will become increasingly more disabled over time. Individuals with Rett syndrome will require 24 hours care for the rest of their lives.

Four stages of Rett syndrome have been identified:

Stage I (early onset)
This stage usually occu