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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 occurs between six to eighteen months of age, and normally lasts for a few months.
During this stage the individual with Rett syndrome may experience:

  • Less eye contact
  • A reduced interest in toys may be apparent
  • Decreased head growth may occur
  • Delays in gross motor skills e.g. sitting and crawling

Stage II (rapid destructive stage)
This stage usually occurs between the ages of one and four. This stage may last for weeks or months. Individuals with Rett syndrome will usually experience:

  • Loss of purposeful hand skills
  • Loss of spoken language
  • Irregularities in breathing
  • Unsteady gait patterns may occur and the initiation of motor movements may be difficult
  • Decreased head movement will usually be more apparent at this stage
  • Autistic like behaviour
  • Characteristic hand movements e.g. clapping, tapping and wringing.

Stage III (Plateau or Pseudo-stationary stage)
This stage usually occurs between the ages of two and ten and will usually last for years. Individuals with Rett syndrome will usually experience:

  • Apraxia
  • Seizures and motor problems will often be more apparent
  • An improvement in behaviour with less irritability and crying
  • Improvement in communication skills
  • Many individuals with Rett syndrome will be stuck in this stage for the majority of their lives.

Stage IV (late motor deterioration)
This stage can persists for years / decades, individuals with Rett syndrome will often experience:

  • Reduced mobility
  • Muscle weakness
  • Muscle, spasticity, rigidity, dystonia and scoliosis.
  • Improvement in eye gaze may be apparent

If you would like to arrange an assessment with one of our therapists please contact the ASD Clinic by emailing calling 0330 088 6693.

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