Rett Syndrome
Rett Syndrome
Abstract
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.
Introduction 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
Abstract
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.
Introduction 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
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