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How is Rett Syndrome Diagnosed?

Rett Syndrome is normally diagnosed by completing a genetic test and through clinical diagnosis, where specific signs and behaviours are assessed.

The typical signs of Rett Syndrome include:

  • Following normal age appropriate development, with a decrease in development from around the end of the first year, which continues until regression of previously acquired skills occurs
  • A period of regression where skills in speech and hand movement are decreased, normally between nine months to 30 months.
  • Development of repetitive hand movements
  • Stiff posture or clumsy gait
  • Decrease in head growth between two months and four years

Other signs which may be apparent include:

  • Breathing difficulties and irregularities
  • Epilepsy
  • As individuals age, muscles may become rigid with joint deformities and muscle wasting
  • Wide-based, unsteady gait
  • Scoliosis
  • Teeth grinding
  • Problems with growth

A diagnosis of Rett syndrome will usually involve a team of medical professionals which can include:

To arrange an assessment with one of our therapists please contact us by emailing or calling 0330 088 6693.

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