About Rett Syndrome

Rett Syndrome is a rare neurological disorder, the result of a genetic mutation that predominantly affects girls.  It is due to a mutation on the MECP2 gene which is found on the X chromosome. It is nearly always a “one off” mutation, and not inherited from either parent. This mutation results in a deficiency in the production of specific protein needed in the body. Girls with Rett Syndrome typically develop normally until the age of 18 to 24 months, so they may walk and talk, and although the mutation is present from conception, there will probably be no signs of it. At 18 to 24 months old, the girls will enter a phase of regression, where they can become withdrawn and anxious, and begin to lose skills they have already developed, such as talking, walking and hand function. They will also begin the stereotypical hand movement that goes with Rett Syndrome.  This in essence “traps” the girls in their bodies, as without mobility, hand function or verbal speech they become completely dependent on others for all their needs, and will need 24 hour care for their whole life.

People with Rett Syndrome were traditionally thought to have profound and multiple learning difficulties, but advances in knowledge and development of technology such as Eye Gaze computers  have shown that these girls are far more aware and alert than previous thought.  Other complications that can accompany Rett Syndrome are breathing problems, digestive and feeding difficulties, scoliosis and fragile bones, disturbed sleeping patterns, seizures, anxiety, poor circulation, and heart problems.

For more information about Rett Syndrome, please see the following websites:

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