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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 office@asdclinic.co.uk or calling 0330 088 6693.

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