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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.
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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) |
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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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