Rett's+Syndrome

=**Rett Syndrome**=


 * What is it?**

This disease is caused by a mutation in the gene MECP2, which is found in the X chromosome. This gene generates a protein called methyl cytosine binding protein, which controls other genes and tells them when to stop making their own proteins. Also, the mutated MECP2 produces less protein than needed, or a protein in an unusual structure. This disorder is not usually passed on to the child. In fact, less than 1 percent of recorded cases passed it on to their child. Rett's Syndrome is most often found to occur when a gene has a random mutation. This syndrome affects mostly girls, in 1 out of 15,000 female births. The girls have healthy cells too, since the other X chromosome can produce normal amounts of the protein. The boys who get this disease have only one X chromosome, which produces the protein, and they are exposed to the more severe effects of the syndrome. Unfortunatly, they usually die a little after birth. An exception to this is if there is a less severe mutation, which results in mental retardation.

www.sfn.org content.answers.com 4/23/08. 4/23/08
 * What are the symptoms?**

The first stage of Rett Syndrome is called early onset. Some parents don't notice that their child has it, because the symptoms are subtle at first. It starts to set in between 8-6 months, and includes a slow start in walking or sitting up, and eye contact is decreased. Also, the child loses interest in toys and other amusements. A child would also wring their hands, and have a head that grew unusually slowly.

The second stage, called rapid destructive stage, is more severe on the child. They begin to wring their hands more, and display other erratic movements such as clapping, tapping, or keeping hands tightly at their sides. A child also will show mannerisms similar to autism, as they lose interest in social interactions. Also, it becomes more difficult for the child to walk. At night, they stop these symptoms, but might have trouble with sleep apnea or irregular breathing. It starts between ages 1-4.

Stage three, called plateau or pseudo-stationary phase, begins at ages 2-10, and lasts most of the child's life. The coordination and motor skills remain, but seizures and apraxia start to appear. They do improve on their behavioral problems, and become more social and willing to engage in activities.

The last and final stage, called late motor deterioration stage, is when the major problems start to set in. A girl may experiance many problems such as muscle stiffness, scoliosis, and dystonia. The social skills improve more, and a person will get better at making and maintaining eye contact. If a girl was lucky enough to be able to walk previously, they usually lose this ability in this stage.


 * What is the treatment?**

There is no known cure for Rett's Syndrome, but there is limited treatment. It includes medical assistance for breathing or heart problems, and therapy for motor skills problems and behavioral issues.

 www.specialchild.com  www.specialchild.com  [|www.circ.uab.edu] 4/23/08 4/23/08 4/23/08
 * Patients with Rett's Syndrome:**

http://www.ninds.nih.gov/disorders/rett/detail_rett.htm