Rett Syndrome Essay

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Rett Syndrome

Rett syndrome is considered one of the autism spectrum disorders. Rett syndrome is a developmental disability disorder resulting in severe mental and physical deficits in female children. Rett syndrome is grouped as a pervasive developmental disorder (PDD) in which conditions are severe and pervasive, and that begin in early life and influence multiple areas of development. Rett syndrome, including the age of onset and the severity of symptoms, varies from child to child. Before the symptoms begin, however, the child generally appears to grow and develop normally, although there are often subtle abnormalities even in early infancy, such as loss of muscle tone (hypotonia), difficulty feeding, and jerkiness in
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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 (Rett Syndrome, 2010). Rett syndrome is a genetic disorder, in which less than 1 percent of recorded cases are inherited or passed from one generation to the next (Rett Syndrome Ract Sheet, 2011). Most cases of Rett syndrome are caused by a mutation on the MECP2 gene, which is found on the X chromosome (Rett Syndrome, 2010). The Rett syndrome disorder occurs spontaneously in most affected individuals, which means the mutation occurs randomly. However, in some families of individuals affected by Rett syndrome, there are other female family members who have a mutation of their MECP2 gene but do not show clinical symptoms. These females are known as “asymptomatic female carriers” (Harris, n.d). Prenatal testing is available for families with an affected daughter who has an identified MECP2 gene, however, the risk of a family having a second child with the disorder is less than 1 percent. According to the DSM-IV- fourth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV; American Psychiatric Association [APA], 1994)-pervasive developmental disorders refers to a group of severe and pervasive conditions that begin in infancy or early childhood, and have an impact on several areas of development including socialization, language, and stereo-typed or perseverative behaviors. Rett syndrome is