Rett Syndrome

By: Shelby Dickinson

Facts About Rett Syndrome

1. 1: Rett syndrome is a severe genetic disorder of the nervous system caused, in most cases, by a mutation in the MECP2 gene.

2. 2: It is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability.

3. 3: The disorder was identified by Dr. Andreas Rett, an Austrian physician who first described it in a journal article in 1966.

4. 4: Apraxia — the inability to perform motor functions — is perhaps the most severely disabling feature of Rett syndrome, interfering with every body movement, including eye gaze and speech.

5. 5: Although Rett syndrome is a genetic disorder, less than 1 percent of recorded cases are inherited or passed from one generation to the next. Most cases are spontaneous, which means the mutation occurs randomly.

6. 6: Rett syndrome is estimated to affect one in every 10,000 to 15,000 live female births and in all racial and ethnic groups worldwide.

7. 7: Despite the difficulties with symptoms, many individuals with Rett syndrome continue to live well into middle age and beyond. Because the disorder is rare, very little is known about long-term prognosis and life expectancy.

8. 8: The child with RTT is usually born healthy and shows an early period of apparently normal or near normal development until 6-18 months of life, when there is a slowing down or stagnation of skills. A period of regression then follows when she loses communication skills and purposeful use of her hands and slowing of the normal rate of head growth become apparent.

9. 9: Technically, there are 4 stages of Rett syndrome which goes in the following order: Early Onset (6-12 months), Rapid Destructive Stage (1-4 years), Plateau Stage (preschool to adulthood), and Late Motor Deterioration Stage (age where movement or walking is lost until death).

10. 10: Rett syndrome is most often misdiagnosed as autism, cerebral palsy or non-specific developmental delay. While many health professionals may not be familiar with RTT, it is a relatively frequent cause of delayed development in girls.

Charts and Graphs About Rett Syndrome

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Clips about Rett Syndrome

Reflection About the Project:

Before the project, I didn't know anything abut Rett syndrome. Upon research, I came to find that it was actually a heartbreaking syndrome that only appears in girls. The thing that makes it so upsetting is the fact it changes someone's life forever (as well as those who surround her), and it is so rare. The odds of having Rett are slim, but someone has to have it. It may seem "unlucky" and "unfortunate" if your daughter has it, and lead you to doubt or anger and start to question many aspects of life. In all, I enjoyed learning abut Rett syndrome and exploring the traits and statistics about the condition.
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