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How is Rett syndrome diagnosed?
Rett syndrome is now confirmed in most cases by carrying out a genetic test and also through clinical diagnosis – looking for signs and behaviours. Here are the typical signs. - After appearing to make normal progress, a period of stagnation in development from about the end of the first year, which lasts until regression occurs
- A regression period when skills in speech and hand movement are reduced, which occurs between about nine and 30 months
- Development of repetitive hand movements (wringing, patting, clapping, tapping, mouthing, finger crossing)
- Appearance of stiff or clumsy posture or gait
- A normal head circumference at birth but a slowing of head growth between two months and four years approximately
- Absence of other disease, syndrome or injury to account for the above features
Other features which are often seen include:
- Breathing irregularities including hyperventilation, breath-holding and air swallowing
- Epilepsy – over 50% of people with Rett syndrome have some form of epileptic seizure at some time
- With age, muscles become increasingly rigid; joint deformities and muscle wasting may occur
- Unsteady wide-based gait (about half of those with Rett syndrome achieve independent mobility)
- Development of scoliosis (curvature of the spine)
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