Florie's Fight Against Rett Syndrome
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.
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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
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A regression period when skills in speech and hand movement are reduced, which occurs between about nine and 30 months
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Development of repetitive hand movements (wringing, patting, clapping, tapping, mouthing, finger crossing)
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Appearance of stiff or clumsy posture or gait
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A normal head circumference at birth but a slowing of head growth between two months and four years approximately
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Absence of other disease, syndrome or injury to account for the above features
Other features which are often seen include:
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Breathing irregularities including hyperventilation, breath-holding and air swallowing
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EEG abnormalities
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Epilepsy – over 50% of people with Rett syndrome have some form of epileptic seizure at some time
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With age, muscles become increasingly rigid; joint deformities and muscle wasting may occur
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Unsteady wide-based gait (about half of those with Rett syndrome achieve independent mobility)
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Development of scoliosis (curvature of the spine)
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Growth retardation
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Teeth grinding
Rett Syndrome, Never Heard of it?!
Rett syndrome is a rare neurological disorder affecting mainly females and very few males.
Although present at birth, it is usually undetected until major regression occurs at around one year of age, when children will lose acquired skills - this can be accompanied by distress and anxiety.
Rett syndrome was first described in 1966 by the Austrian doctor, Andreas Rett. Genetic but not hereditary, it could occur in any family at any time. People with Rett syndrome have profound and multiple physical and learning disabilities and are totally reliant on others for support throughout their lives.
It is the most common genetic cause of severe disability in females. A large proportion of people with Rett syndrome have a mutation, or fault, on the MECP2 gene on the X chromosome.
There are substantial communication and mobility issues for people with Rett syndrome. Most will not speak and, by adulthood, only 50% will walk. Epilepsy, chronic spinal curvature and breathing and feeding difficulties are also common features. However, we are increasingly aware of people with Rett syndrome living into their 50s and beyond.