This revision: 26th April 2013 .
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Rett syndrome, originally termed as cerebroatrophic hyperammonemia, is a neurodevelopmental disorder of the grey matter of the brain that almost exclusively affects females but has also been found in male patients.
The clinical features include small hands and feet and a deceleration of the rate of head growth (including microcephaly in some). Repetitive stereotyped hand movements, such as wringing and/or repeatedly putting hands into the mouth, are also noted.
People with Rett syndrome are prone to gastrointestinal disorders and up to 80% have seizures.
The symptoms of RTT severely limit individuals from independently taking part in meaningful activities in their day-to-day lives. As a result, most people with this disorder are very dependent on their caregivers in most areas of their lives. Occupational therapists (OTs) try to find ways to encourage these individuals to take part in activities that are meaningful to them, as this has been shown to improve health and well being.
Some symptoms such as involuntary stereotypical hand movements can make eating a very difficult self-care task for individuals with RTT.
Occupational therapists and physical therapists are involved in helping children with RTT function optimally at school. One of their primary concerns is regarding the child’s seating and positioning in the school environment. As RTT highly impacts a child physically, they often require customized seating, whether it is in the form of a wheelchair or customized chair and desk combinations.
The team of PT, OT and speech pathologist may also provide adaptive tools including: communication boards, adaptive school supplies, and the use of eye-gaze and/or switches to activate educational programs on the computer.
Individuals with RTT often do not develop, or lose the ability to communicate through speech. As a result of their lack of language, individuals with RTT can benefit from Augmentative and Alternative Communication (AAC), which are communication methods used in place of speech.