Rett Syndrome Research Paper

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Rett Syndrome is a neurodevelopmental genetic disorder identified by Austrian physician Andreas Rett in 1966. It is an X-linked disorder, found in almost exclusively females, affecting one in every 10,000 live births. Nearly all cases of Rett Syndrome are caused by a genetic mutation or deletion of the MECP2 gene. It is hypothesized that an error in the MECP2 gene alters the normal developmental expression in various other genes. The MECP2 gene has been implicated in synapse development and maintenance, and is therefore essential for normal neurological function. Rett Syndrome exists in all races and all countries. Although it is a genetic disorder, most mutations occur randomly and the disorder is not inherited. Rett Syndrome has been described as a …show more content…
Stage 2, called the regression stage, is characterized by the loss of previously acquired skills, particularly motor and language skills. It is at this stage that seizures may begin, and respiratory, sleeping, and feeding problems may also emerge. In the regression stage, girls may appear socially withdrawn and receive the diagnosis of Autism Spectrum Disorder. Repetitive, nonfunctional hand movements begin, which affects the child's ability to interact with and learn from the environment. Apraxia becomes evident in stage 2. Apraxia is a neurological condition in which the people afflicted find it difficult to make certain motor movements, even though their muscles are normal. Apraxia can affect all motor movements, including limb movements and speech. Initiation of voluntary movement may be delayed, often as long as thirty seconds. The second stage of Rett Syndrome may last for one or more years, typically ending between ages five and ten years. Stage three is referred to as the pseudostationary phase. In this stage, there is typically an improvement in symptoms. Agitation and sleeping problems may diminish, and symptoms typical to autism such as poor eye contact and social
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