Rett Syndrome By Connor Shepard Period 6

Basic Info  More than 99% of the cases occur in families where there is no history of the disorder, meaning most of the time it is not inherited.  because it is caused by a new mutation of the MECP2 gene, which is found on the X Chromosome.

Basic Info  It is most common in girls to the point of nearly all the cases are female. When males got the disorder they usually die before birth.  The MECP2 gene is responsible for making the protein MeCP2 which is critical for brain development.  Its most likely job is to build the synapse in the neurons.

How Common is it?  The disorder affects and average of 1 in 10,000-22,000 females.  Because the gene is dominant, only one copy of the mutated gene is needed for the disease the take effect.

Stages of Rett Syndrome  There are four stages of Rett Syndrome

Stage 1  the early onset usually happens between 6-18 months of birth and shows itself as a slow decline in development. This may look like the child shows less eye contact and may not be as interested in toys. There may also be a delay in motor skills such as sitting up or crawling. It usually lasts for a couple of months to a year.

Stage 2  Known as the rapid destructive stage. Between ages 1- 4, the child will loose purposeful hand skills or speech abilities. They may show hand movements such as wringing, washing, clapping, or tapping, as well as repeatedly moving the hands to the mouth. The child may hold the hands behind the back or at the sides, with random touching, grasping, and releasing. This happens when the child is awake not asleep. There may also be breathing problems such as apnea and hyperventilation. The disorder may look like autism because there is often loss of social interaction and communication. There is also slowed head growth (microcephaly). This stage may last for a couple of weeks or months.

Stage 3  known as the plateau stage and it can begin in ages 2-10 and last for years. This stage features Apraxia, motor problems, and seizures. There may also be an improvement in autistic behaviors like crying and irritability. There is also more interest in surroundings, alertness, attention span and improvements in communication skills. Most patients will stay in this stage for most of their lives.

Stage 4  known as the late motor deterioration phase. There is reduced mobility, curvature in the spine (scoliosis), and muscle weakness, rigidity, and spasticity. Patients who could previously walk may stop all together. This phase may last for years or decades.

Treatment  Some medications that have been used are Bromocriptine, Dextromethorphan, Folate, betaine, L-carnitine, which may help improve language skills, muscle mass, alertness, energy and quality of life, and L-dopa for motor rigidity in later stages of the disease. Also physical therapy can be used to treat muscle problems.

Everyday Life  A person with Rett Syndrome will have difficulties doing mundane tasks such as eating or brushing their teeth, a person with the disorder needs to have a person there to help them at all times. Overall the quality of life is poor because they may feel they are trapped in their own body.

A Cure  There has been a study on mice with Rett Syndrome that shows switching on a certain gene will result in almost a full recovery. Mice with this gene regained most motor skills and an interest in their environment. It is a ray of hope for families with Rett Syndrome.

THE END  Sources:   ett.htm ett.htm ett.htm  e/rett-syndrome/overview.html e/rett-syndrome/overview.html e/rett-syndrome/overview.html  cure-for-Rett-Syndrome jp cure-for-Rett-Syndrome jp cure-for-Rett-Syndrome jp