Rett Syndrome Research Paper

Rett syndrome is a postnatal neurodevelopmental disorder that mainly affects girls but is rarely found in boys as well. Rett syndrome strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 female births. It was first identified by Dr. Andreas Rett, an Austrian physician who described it in an article published in 1966. Even though Rett described the disorder in his 1966 article it went another 17 years until being generally recognized after Swedish researcher Dr. Bengt Hagberg published an article about the disorder in 1983 (Rett Syndrome Fact Sheet).

Rett syndrome is often misdiagnosed as autism, cerebral palsy, or a nonspecific developmental delay. Children with Rett syndrome tend to exhibit autistic-like behaviors

The MECP2 gene makes a protein, also called MECP2, believed to play a pivotal role in silencing, turning off or regulating the activity of other genes. The MECP2 mutation (change in the gene) causes the turn-off/regulatory mechanism to fail, allowing other genes to function abnormally(Rett Syndrome - NORD). Rett syndrome is a genetic disorder of developmental failure of brain maturation. This is thought to occur when subsets of neurons and their connections are disrupted during a dynamic phase of brain development. This deviation occurs at the end of pregnancy or in the first few months of life during the critical phases of synapse development. How mutations in MeCP2 lead to Retts is not well understood but is the focus of intense research.

The symptoms of Rett syndrome can vary dramatically from one person to another. This is why a wide range of disabilities are associated with Rett syndrome. The symptoms often appear in stages. Not all individuals affected by it will experience all of the

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

There are 4 stages of Rett syndrome that break up the symptoms. Stage one: early signs and slow development; Stage two: regression; Stage three: plateau; Stage four: deterioration in movement. Even though the stages are different some symptoms will overlap between the stages(Signs and Symptoms: Stages).

Stage one describes the changes that typically appear in the first six to 18 months of the infant's life. These include a general slowness in development; floppiness (hypotonia); difficulty feeding; abnormal hand movements (such as repeatedly making wringing, clapping or washing motions with the hands); lack of interest in toys; poor coordination of