Essay On Rett Syndrome

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Has it ever come to mind, what it would feel like to be trapped in a body that doesn’t work? Well, that is what it is like with Rett Syndrome. Basically, the patients affected with Rett Syndrome slowly regress to where they eventually can’t walk or even talk. There are many things involved with RS. Rett Syndrome, it has many effects, complications, symptoms, and treatments.
First, the mutation occurs in the MECP2, which controls the functions of many other genes. It is located on the X chromosome. According to the National Institute of Neurological Disorders and Stroke, “The MECP2 gene contains instructions for the synthesis of a protein, which is needed for brain development and acts as one of the many switches that can tell other genes when to turn off and stop producing their own unique proteins” (Rett Syndrome Fact Sheet: NIH NINDS). The National
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Medications may be used to control seizures, regulate breathing, eliminate problems with abnormal heart rhythm, and relieve indigestion and constipation. Occupational therapy can help children develop skills for performing daily activities (dressing and feeding), while physical therapy and hydrotherapy may extend mobility. Speech-Language Therapy is also used to improve social interaction and teach nonverbal communication. Patients need feeding and physical assistance” (What are the treatments for Rett syndrome?: NIH NICHD). These tie into the complications as well.
Complications vary from patient to patient. Scoliosis and heart abnormalities are possible. Patients also need lifelong care and assistance with activities of daily living. Sleep problems occur, difficulty eating, constipation, gastrointestinal (GI) problems, such as gastroesophageal reflux disease (GERD), muscle and joint problems, anxiety and problem behavior, and a shortened life span of about 40
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