Rett Syndrome Essay

1839 words - 8 pages

Rett Syndrome

Joseph Lee

4th Period

Rett Syndrome is a disorder which affects the nervous system and is found almost exclusively in girls. One in 10,000-20,000 newborn babies are born with Rett Syndrome, making this disorder very rare. Rett Syndrome is often described as autism, cerebral palsy, Parkinson’s, epilepsy, and various anxiety disorders wrapped into one. In this paper, I will discuss what exactly Rett Syndrome is, who discovered it, how he discovered it, what its causes are, what the symptoms are, the disorder’s course, and possible treatments for the disorder. Said Dr. Rett at a conference regarding the disorder which bears ...view middle of the document...

Rett continued his study of these, along with six other, curious children by filming their behavior and traveling throughout Europe in attempt to find others with similar symptoms. During his travels, Rett collected information from a total of 31 girls (Hagberg, Anvret, & Wahlström, 1993), and published his findings in 1966 in many German medical journals that were very popular within the region, but hardly popular among the global medical community. Meanwhile, in 1960, Swedish researcher Dr. Bengt Hagberg noticed similar behavior in young female patients. He gathered their files and set them aside for when he had more time to study these bizarre cases. Finally, in 1983, seventeen years after Dr. Rett published his initial findings, Dr. Hagberg published his research in an article in the main-stream journal Annals of Neurology. After this publication, Rett Syndrome was on the map and many investigators began researching the disorder.

Dr. Rett’s work was truly revolutionary. Since he worked in Austria, the National Socialist (Nazi) Party considered mentally retarded children social outcasts and refused them proper treatment or refused to allow the children to be studied to create a more proper treatment. “Dr. Rett’s work began over fifty years ago, after serving as a medic in a German navy hospital. After the war, he studied medicine in Innsbruck and Bonn and in 1948, went to Vienna. Realizing the great need for a children’s clinic, he approached the mayor and other local politicians, who were very difficult to persuade in a community where disabled children were considered social outcasts. His patience was finally rewarded when the 100 bed hospital, Rosenhugel (Rose Hill) opened its doors to patients from all over Europe. It was the first facility of its kind in the world, and he was the only physician in Austria caring for disabled children” (Hunter).

In 1999, scientists at Baylor University in Houston, Texas discovered that when the MeCP2 gene is mutated, it causes Rett Syndrome. The MeCP2 gene is found on the X chromosome. Since females have two X chromosomes, they generally can survive because the second chromosome is unaffected. A male with Rett Syndrome is such a rarity because they generally die in the womb as they have only one X chromosome (Rett Syndrome, NCBI). Although the disorder is genetic, less than one percent of all cases are inherited. The mutation of the MeCP2 gene occurs spontaneously between the ages of six and eighteen months.

The MeCP2 gene controls the making of proteins that promote normal brain development. When a child has Rett Syndrome, her brain is found to be about 30% smaller than a normal brain, although scientists have not found any obvious malformations or gross abnormalities. The MeCP2 protein makes the connections between nerves through which signals move. When the protein behaves normally, it controls other genes and prevents them from making...

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