Rett Syndrome Essay - 3003 Words

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†¦show more content†¦The disorder was identified by Dr. Andreas Rett, an Austrian physician who first described it in a journal article in 1966 after he noticed two girls in his waiting room exhibiting identical hand mannerisms (Perry, 1991). He subsequently identifi ed 20 other girls with mental retardation who exhibited similar hand movements and shared a number of other features (Kerr Stephenson, 1985). It was not until after a second article about the disorder, published in 1983 by Swedish researcher Dr. Bengt Hagberg, that the disorder was generally recognized (Hagberg, 1983). 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. Then, gradually, mental and physical symptoms appear. As the syndrome progresses, the child loses purposeful use of her hands and the ability to speak (Rett Syndrome, 2010). Other early symptoms may include problems crawling or walking and diminished eye contact (Rett Syndrome, 2010). The onset of a period of regres sion is sometimes sudden. Apraxia — the inability to perform motor functions — is perhaps the most severely disabling feature of Rett syndrome, interfering with every body movement, including eye gazeShow MoreRelatedThe Developmental Patterns Of Rett Syndrome1202 Words   |  5 PagesIntroduction In a neurodevelopmental disorder like Rett syndrome, there is a very normal period of development followed by gradual regression period. This disorder is caused by an MECP2 (methyl CpG binding protein 2) mutation on the X chromosome. Since this gene was only discovered in the last twenty years, there is still a great deal of information that needs to be understood about the regressive nature of Rett syndrome. It is characterized by this sudden regression that occurs in four stagesRead MoreEssay on What Is Rett Syndrome?1236 Words   |  5 Pagesdescribe the disorder that is Rett Syndrome. Symptoms Rett Syndrome is considered to be a developmental disease, as it does not cause the brain to degenerate, but interferes with the maturation of certain areas, including the frontal, motor, and temporal cortex, which contains the brain stem, basal forebrain, and basal ganglia. (Turkington, Anan 2006). Because of this, people with Rett Syndrome have a loss of purposeful hand skills and mobility. People with Rett Syndrome experience permanent impairmentRead MoreSymptoms Of Rett Syndrome ( Rtt ) Usually Manifests As A Severely Debilitating Neurodevelopmental Disorder1243 Words   |  5 PagesRett Syndrome (RTT) usually manifests as a severely debilitating neurodevelopmental disorder. This genetic disorder was once classified in the Diagnostic Statistical Manual (DSM IV and DSM IV-TR) as a part of Autism because many of the initial signs of the disorder, such as loss of receptive and expressive language skills, social/pragmatic skills, and stereotypical hand movements are traits expected to be seen in someone with Autism. However, there are key differences between the two disorders, namelyRead MoreA Study On Rett Syndrome ( Rtt )1696 Words   |  7 PagesRett Syndrome (RTT) is a rare neurodevelopmental disorder caused by a mutation of a gene on the X chromosome and therefore, more commonly found in females (Renieri et al, 2003). A limited number of cases have been documented in males (Katz et al, 2012). Prior research has shown that a mutation in the methyl CpG binding protein 2 (MeCP2) gene predominantly causes RTT (Forbes-Lorman et al, 2014). The MeCP2 gene holds the information for the production of the protein methyl cytosine binding proteinRead MoreRett Syndrome Research Paper1340 Words   |  6 PagesApproximately 1 in every 10,000 infants in the United States is affected with Rett syndrome (RTT), an X-linked neurodevelopmental disease. (Jin, Chen, Xiao, 2017). Nearly all RTT patients are girls as the mutation on the male’s single X-chromosome tends to be prenatally lethal. The disorder was first described by Andreas Rett in 1966 and is characterized by apparent normal development for the first six to eighteen months of life, followed by the loss of intellectual functioning, acquired fine andRead MoreCorrelation Between Type Of Mecp2 Mutation And The Degree Of Phenotypic Severity1169 Words   |  5 PagesMEPC2 were characterised. As a result of this, a complete set of target genes were unable to be found. This was a great setback in understanding the contribution the MePC2 protein had in producing the severe a broad clinical features observed in Rett syndrome. Identification of both up-regulated and down-regulated gene expression changes in the hypothalamus as a response to MEPC2 mutations has created an emergent paradigm shift in relation MeCP2 function. Two recent papers have identified one possibleRead MoreThe Effect Of Music Therapy On Cognition1592 Words   |  7 PagesEffect of Music Therapy on Cognition in Children w ith Retts Syndrome Brandon Akers Arkansas State University Author Note This research is proposed to better understand the impact of music therapy on cognition in children with Retts Syndrome. The knowledge presented is based on my own findings from a review of the empirical and theoretical literature relevant to this topic. It is important to study the effect music therapy has on Retts Syndrome candidates in order to better teach necessary knowledgeRead MoreThe Genetic Testing Controversy Essay2003 Words   |  9 Pagesthat her daughter happened to be diagnosed with Rett syndrome. Rett syndrome is a neurodevelopmental problem that occurs in the nervous system (Tarquinio). The wife stated â€Å"I think as a military spouse you learn to adjust easily and expect that your life might change at any given moment, but nothing can prepare you to learn that the change in life is coming from your child.† Since the wife was able to know that her daughter was diagnosed with the syndrome, she was able to do research to help with whatRead MoreIs Autism A Deve lopmental Disorder? Essay1619 Words   |  7 Pagesdevelopmental brain disorders. 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The literature shows that a diagnosis of ELS and the presence of a personal or a family history