Taking a Look at Rett Syndrome

In 1966, an Austrian physician by the name of Andreas Rett, published a report that informed people about this disorder. According to the International Rett Syndrome Association (IRSA), Dr. Rett had become interested when he noticed that two young girls in his office were suffering from the same symptoms. After further investigation, he found that there were six other girls in his office that had the same symptoms. He figured that these eight girls shared the same disorder. He began to research further by filming these girls and traveling around Europe to find others that were suffering from the same symptoms. The purpose of this paper is to inform people about Rett Syndrome, its causes, characteristics, and ways to help someone cope with this rare disease.

Rett Syndrome is a disorder that falls into the autism spectrum disorders. It is the most physically disabling disorder in the autism spectrum. Rett Syndrome is a disorder which affects the nervous system and is found almost exclusively in girls. According to the Rett Syndrome Research Trust, Rett Syndrome affects one in ten-thousand females. In the United States approximately sixteen thousand women and children are affected with this syndrome. The age in which Rett Syndrome begins to show signs and the severity of the symptoms varies from child to child.

Females that are diagnosed with Rett Syndrome gnereally appear to develop normally, until around the age of six to eighteen months. In that time they appear to have normal development. The first symptom that stands out is they no longer have the ability to perform motor functions. One of the most stereotypical behaviors of someone diagnosed with Rett Syndrome is clasping together of the hands and repetive hand...

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...al therapy. Improvements in the diagnosis of Rett Syndrome have, as yet, no parallels in treatment. Medicine can offer only supportive measures: feeding tubes, orthopedic braces and surgeries, and trials of standard seizure medications which are often ineffective in Rett Syndrome. Treatment for the disorder is symptomatic, focusing on the management of symptoms, and supportive. Medication may be needed for breathing irregularities and motor difficulties, and antiepileptic drugs may be used to control seizures. Occupational therapy, physiotherapy, and hydrotherapy may prolong mobility. Some children may require special equipment and aids such as braces to arrest scoliosis, splints to modify hand movements, and nutritional programs to help them maintain adequate weight. Special academic, social, vocational, and support services may be required in some cases (NINDS).