Essay On Rett Syndrome

1434 Words3 Pages

Rett syndrome is a neurological disorder that mainly affects females. According to “The Molecular Pathology of Rett syndrome: Synopsis and Update”, it states that the disorder starts to be recognizable when the child is between six to eighteen months of age. The affected child will loose their ability to speak and hand movements. Through research, MECP2 is in the X chromosome gene (2006). An estimate of females that suffer from Rett syndrome is 1 in 1,000 and in the United States, it is approximately 16,000 young and adult females that are affected (Rett Syndrome, 2008). In my paper, I will give a brief history of how Rett syndrome was first noticed, discuss the dysfunction in the brain, the development and behavior, and possible treatments. In the 1960’s, an Austrian pediatrician, Dr. Andres Rett, recognized a few of his female patients with similar indications of having some type of neurologic disorder but did not fit the cerebral palsy classification (Zoghbi, 2002). Without the knowledge of earlier research, a Swedish physician, Bengt Hagberg, began to openly speak about his observations similarly to Dr. Andres Rett records (Zoghbi, 2002). Bengt Hagberg observed numerous of female patients with this unknown syndrome and was curious in their wringing hand movement that no textbook had information on. In June 1981 Dr. Neil Gordon hosted a board meeting of the European Federations of Child Neurology Societies in Manchester and Bengt Hagberg had the opportunity to share his studies there. The discussion group had other pediatric neurologists that had seen the same behaviors but they all were unable to categorize it into its own identity. As years past, this syndrome has increased and neurologist began to evaluate this syndrome t... ... middle of paper ... ...ental Retardation & Developmental Disabilities Research Reviews, 8(2), 61-65 Kerr, A. (2002). Annotation: Rett syndrome: recent progress and implications for research and clinical practice. Journal Of Child Psychology & Psychiatry & Allied Disciplines, 43(3), 277. Rett Syndrome. (2008, September 25). Rett Syndrome Research Trust. Retrieved July 24, 2014, from http://www.rsrt.org/rett-and-mecp2-disorders/rett- syndrome Webb, T. (2001). Rett syndrome and the MECP2 gene. Journal of Medical Genetics, 38(4), 217. Young, D. J., Bebbington, A., Anderson, A., Ravine, D., Ellaway, C., Kulkarni, A., & ... Leonard, H. (2008). The diagnosis of autism in a female: could it be Rett syndrome?. European Journal Of Pediatrics, 167(6), 661-669 Zoghbi, H. Y. (2002). Introduction: Rett syndrome. Mental Retardation & Developmental Disabilities Research Reviews, 8(2), 59-60.

Rett Syndrome Research Paper
865 Words | 2 Pages
Rett syndrome is a postnatal neurodevelopmental disorder that mainly affects girls but is rarely found in boys as well. Rett syndrome strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 female births. It was first identified by Dr. Andreas Rett, an Austrian physician who described it in an article published in 1966. Even though Rett described the disorder in his 1966 article it went another 17 years until being generally recognized after Swedish researcher Dr. Bengt Hagberg published an article about the disorder in 1983 (Rett Syndrome Fact Sheet).
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Rett syndrome is a progressive neurological disorder that affects almost exclusively in females. The most basic symptoms include decreased speech, cognitive disabilities, severe lack of muscle control, small head size, and unusual hand movements. A woman with a mutation in her MECP2 gene, has a 50% risk with any pregnancy to pass on her X chromosome with the mutation. It is not common for women with Rett syndrome to have children because the severity of the disorder. The mutated gene on the X chromosome that is responsible for causing Rett syndrome is the methyl CpG-binding protein 2, MECP2 gene. The gene makes a protein that controls other genes. When a mutation occurs in the MECP2, the protein it makes does not work properly. This is thought to counteract normal neuron, nerve cell development. The severity of the syndrome in females is related to the type of mutation in the MECP2 gene and the percentage of cells that carry a normal copy of the MECP2 gene. Rett syndrome is believed to affect all ethnic groups and nationalities with an equal frequency of about 1 case for every 10,000 to 15,000 live female births.
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Essay On Rett Syndrome

Rett Syndrome Research Paper

The Effects of Angelman Syndrome on Behavior, Cognition, and Development