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 limb movements. 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 is a genetic disorder, in which less than 1 percent of recorded cases are inherited or passed from one generation to the next. At first Rett syndrome was considered to be a neurodegenerative disease but with research in mice over the past five years, it is being classified as a neurodevelopmental disease. Most cases of Rett syndrome are caused by a mutation on the MECP2 gene, which is found on the X chromosome. There is currently no cure for Rett Syndrome at this present time.
Rett Syndrome was first observed in 1977 in Austria by Andres Rett and in 1983 in Sweden by Hagberg and colleagues. Hagberg’s original description reads: "A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett syndrome." The disorder presents in small girls with loss of speech, purposeful hand use, loss of swallowing mechanisms, dystonia, stereotopies and ataxia. A few girls cannot walk, and may have epilepsy. The complex features in Rett syndrome define a demanding situation requiring complete daily care by parents and assistance from physicians and support groups. The healthy adults with Rett syndrome survive into their forties or fifties.
At first Rett syndrome was considered to be a neurodegenerative disease but with research in mice over the past five years, it is being classified as a neurodevelopmental disease. A few researchers have been concluding that Rett syndrome may be a genetic disorder but there is no clear conclusion as of right now. It is still unclear what factors trigger the onset of Rett syndrome. The gene that is responsible for the disorder is MECP2 on the X-chromosome. Abnormalities in MECP2 have been detected in boys with an infantile encephalopathy, as well as mental retardation. The organizations that help out families with children of Rett syndrome are Easter Seals, International Rett Syndrome Foundation, National Institute of Child Health and Human Development (NICHD), Rett Syndrome Research Trust, and National Institute of Mental Health (NIMH).
The purpose of this paper is to define and discuss Rett syndrome and to show how Rett syndrome impacts the child and their family. First, this paper will define Rett syndrome. Then, this paper will show Rett syndrome is a genetic disorder. Then, this paper will show how Rett syndrome is diagnosed. Then, this paper will discuss research that is being conducted about Rett syndrome. Finally, this paper will discuss the impact the diagnosis has on the child and the family. Rett syndrome is a developmental disability disorder resulting in severe mental and physical deficits in female children (Sullivan, 1994). 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 (Smith, 1995). Rett syndrome is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand...