Rett Syndrome

Rett Syndrome is the most physically disabling of the autism spectrum disorders. It is a rare genetic disorder that affects the way the brain develops. It occurs almost exclusively in girls and they start showing symptoms between six and eighteen months. This disease is caused by a mutation in the X chromosome in the MECP2 gene. This gene controls the function of many other genes, and it contains the instructions for the synthesis of a protein called methyl cytosine. This protein is needed for brain development and acts as one of the many biochemical switches that can either increase gene expression or tell other genes when to turn off and stop producing their own unique proteins. Because this gene doesnt function properly in one who has Rett Syndrome, insufficient amounts of structurally abnormal forms of the protein are produced and can cause other genes to be abnormally expressed. Once a child is six months old, they can begin to show some of the many signs of Rett Syndrome. The first indication that a baby might have this disease is slowed growth. The most common sign of this is a smaller than normal head size. As the brain becomes more and more affected, more signs start to become noticeable. Apraxia, the inability to perform motor functions, is common, and can include a decrease in hand control and a decreasing ability to crawl or walk normally. A loss in communication and thinking abilities is also a major sign. As the disease progresses, abnormal hand movements such as hand wringing, squeezing, clapping, tapping, or rubbing may become a regular habit. Some more severe symptoms may include apnea, hyperventilation, and dysrhythmia. The baby might also experience several mood swings and seizures that range from periodic muscle spasms to full blown epilepsy. It would also be a good idea to take a baby to a doctor if it has an abnormally curved back or constipation. Doctors diagnose this disease by the slowing of development, distinctive hand movements, problems with walking, intellectual disability, and seizures. Rett Syndrome is usually broken down into four stages. In the first stage, the signs and symptoms are subtle and easily overlooked. This stage usually happens between six and eighteen months. The second stage occurs between one and four years of age, and the symptoms increase and become more severe. The third stage can happen anywhere between the ages of two and ten. In this stage, children tend to show an increase in movement and behavior. The last stage is the rest of their life. This stage is characterized by reduced mobility, muscle weakness, and scoliosis. People with Rett Syndrome usually do not live past their 50s. Rett Syndrome is rarely inherited, but some individuals who are diagnosed with this disease have found that they have female family members who were asymptomatic carriers. Even though it is very uncommon for a male to be diagnosed with Rett Syndrome, it is still

possible. Because males only have one X chromosome, if they are diagnosed, they will be affected much more severely. Most of them will die before birth or in early infancy. If they are lucky and happen to get a less destructive form of Rett Syndrome, then they have a high chance of living till middle adulthood, very much like the girls. Unfortunately, there is no cure for Rett Syndrome. Doctors do try to treat the symptoms with medication for breathing irregularities and motor difficulties and anticonvulsant drugs for controlling seizures. Children may also need occupational therapy to help them develop skills necessary for everyday life and physical therapy in order to prolong mobility.

Works Cited

Chial, Heidi. "Rare Genetic Disorders." Nature.com. Nature Publishing Group, 2008. Web. 11 Nov. 2013. <http://www.nature.com/scitable/topicpage/rare-genetic-disorders-learningabout-genetic-disease-979>. "Definition." Mayo Clinic. Mayo Foundation for Medical Education and Research, 04 Oct. 2012. Web. 11 Nov. 2013. <http://www.mayoclinic.com/health/rettsyndrome/DS00716/DSECTION=complications>. "Rett Syndrome Fact Sheet." : National Institute of Neurological Disorders and Stroke (NINDS). N.p., n.d. Web. 11 Nov. 2013. <http://www.ninds.nih.gov/disorders/rett/detail_rett.htm>. "Rett Syndrome." Rett Syndrome Research Trust. Rett Syndrome Research Trust, 2013. Web. 11 Nov. 2013. <http://www.rsrt.org/rett-and-mecp2-disorders/rett-syndrome/>. "Rett Syndrome Symptoms, Causes, and Treatments." WebMD. WebMD, n.d. Web. 11 Nov. 2013. <http://www.webmd.com/brain/autism/rett-syndrome>.