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Symptoms:
The mutation causes problems in brain function that are responsible for cognitive,
sensory, emotional and motor skills.
These can affect learning speech, sensory sensations, mood, movement, breathing,
cardiac functioning,chewing, swallowing and digesting
Bringing hands to midline is a common difficulty for students with Rett Syndrome.It is
important to limit amount of activities requiring use of hands and to focus more on
using eyes or eye gaze technology (AAC) when asking questions or asking to make a
choice.
Students with Rett syndrome may also have balance and coordination problems.
Students with Rett syndrome may also have apraxia. Apraxia is
the inability to perform
a task, especially speech even though the request is understood,there is willingness to
do the task,the muscles work properly and the task may have already been learned.
Many individuals with Rett Syndrome have anxiety. They are often
unable to
communicate their anxiety or ask questions to clarify situations which may be causing
anxiety. Anxiety can be shown by: grinding teeth, hand mouthing, breath holding and
other behaviors; it can also present as shutting down (closing eyes, appearing sleepy)
or with crying or yelling. Very rarely, some girls may hit their heads, bite their hands
or otherwise hurt themselves.
Is There Treatment?
There is no cure for Rett syndrome. Treatment focuses on the management of
symptoms. Medication may be needed for breathing irregularities and motor
difficulties. In some cases antiepileptic drugs may be used to control seizures.
Occupational therapy, physical therapy, and hydrotherapy may prolong mobility.
Some children may require special equipment such as supportive seats, arm braces or
wheelchairs. Many organizations believe there is a cure for Rett syndrome and
research is being conducted on the gene and how the mutation is caused.