Rett Syndrome

Abbreviations: RS or RTT

What is Rett syndrome?

Rett syndrome is a disease that mainly applies to girls before the age of 6-18 months. "Children with RS progressively lose communication skills and purposeful hand movements; develop involuntary repetitive hand movements such as hand wringing, hand clapping, or finger rubbing; and have cognitive(intellectual) disabilities"(Hunter 1). Scientists have discovered that RS is called by a mutation in a gene called MECP2 which appears on the X chromosome(6). The mutation of the MECP2 gene doesn't act alone in the cause of RS. Since the MECP2 gene regulates the activity of other genes, it causes all of the other genes to preform abnormally(7).
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Symptoms

  • loss of voluntary movement of hands
  • slow growth of the head
  • breathing difficulties
  • seizures
  • difficulty crawling or walking
  • teeth grinding
  • loss of ability to speech
(Hunter 4)("Rett Syndrome Fact Sheet."7)

When was it discovered and by who?

Rett syndrome was discovered by Austrian physician, Andreas Rett. She first described RS in 1966. The medical world didn't prescribe it as a real syndrome until 1983 when Bengt Hagberg, a Swedish physician, published his description(Hunter 3).
Working to reverse Rett Syndrome

Can this be stopped or prevented?

As of right now, there aren't any specific treatments or cures for RS. "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"("NINDS Rett syndrome information page." 12). Many times Rett syndrome can be misdiagnosed, therefore not getting the patients the right treatment. There are some medications and other things given to the patients to help with some of the symptoms. For instance, many are put in physical therapy and speech therapy in order to try and getting those skills working somewhat normally, although many times it is not very helpful(23).

What kind of medical attention do people with this disorder require?

Due to the fact that the patients with Rett's syndrome having very little mobility and everyday skills, they become very dependent on others. Many girls have such little mobility that they are in wheelchairs and need constant help from their parents. With RS, things like seizures and autistic-like symptoms are very common which call for constant attention. From the time they are diagnosed to the time they pass, they will always need help from others because their symptoms and mobility will only worsen with time.("Working to Reverse Rett Syndrome.")

Are RS patients able to have children? Will they pass down their disease to their children?

RS patients brain patterns and functions are affected but not their reproductive system or menstruation. "Rett syndrome patients are fertile but unlikely to have children"(Martz 2). Like previously stated, RS is can be an inherited gene but mostly happens from random selection in the gene pool.("NINDS Rett syndrome information page." 12) So if a person with RS were to have a child, they wouldn't necessarily have a child with RS.