Rett Syndrome - Research Paper Example

Rett Syndrome Introduction Rett syndrome is a serious neurological disorder, affecting females. One of 15,000 females is subject to the genetic risks of developing Rett syndrome early in life. The growing body of clinical evidence confirms the growing prevalence of Rett syndrome in female populations. Also, Rett syndrome displays a broader variability of genetic phenotypes than previously assumed. That Rett syndrome is purely a genetic disorder cannot be denied: the mutation of the MECP2 gene was proved to cause the development of the disorder in girls. The current state of medicine does not provide any treatment or cure for Rett syndrome. Pharmacological and behavioral treatment can be used, to alleviate the burden of behavioral and psychiatric problems in females diagnosed of Rett syndrome. Rett syndrome remains one of the most popular objects of scholarly research, but a better knowledge of the genetic modifications and mutations is needed to reduce the prevalence and incidence of Rett syndrome in humans. It should be noted, that an average girl with Rett syndrome is born on time, from healthy parents, and as a result of uneventful pregnancy and delivery (Hagberg, Anvret & Wahlstrom 4). The first months of infant development usually do not reveal any deviations from the norm (Hagberg, Anvret & Wahlstrom 4). More often than not, mothers having one or more children notice that the affected infant is different from other children, but cannot explain the difference (Hagberg, Anvret & Wahlstrom 4). It is not before the second half of the first year that the child slowly reveals the signs of psychomotor retardation, including prolonged shuffling and serious delays in learning to stand and walk (Hagberg, Anvret & Wahlstrom 4). At the age of 1.5 years, young girls lose acquired intellectual and physical skills, followed by the loss of interests in parents, family members, and surroundings (Hagberg, Anvret & Wahlstrom 4). They develop a characteristic set of hand movements (Hagberg, Anvret & Wahlstrom 4). Girls grow locked into themselves, reveal the signs similar to those in autistic children and are severely retarded in their mental and emotional development (Hagberg, Anvret & Wahlstrom 6). Diagnostic criteria for Rett syndrome include motor disability and secondary deformities (Hagberg, Anvret & Wahlstrom 7). Despite the difficulties, which physicians encounter in the process of diagnosing Rett syndrome, it remains a purely genetic disorder which, nevertheless, is almost never inherited. Almost 100% of Rett syndrome cases are caused by a serious genetic mutation. Mutations of the MECP2 gene are responsible for the development of the disorder (NINDS). The gene was identified in 1999 and controls several protein synthesis functions (NINDS). More specifically, “the MECP2 gene is responsible for the synthesis of methyl cytosine binding protein, which is vital for brain development in humans” (NINDS). This protein further controls numerous biochemical processes and switches that predetermine gene expression and manage the production of proteins by other genes (NINDS). In girls with Rett syndrome, the MECP2 gene does not function properly, causing similar disruptions in other genetic mechanisms. As a result of the MECP2 mutations, some genes can be abnormally expressed or produce abnormal amounts of proteins (NINDS). In scientific terms, Rett syndrome is a form of an X-linked dominant disorder, which is twice as frequent in females as in males (Dudek 76). Females with Rett syndrome have a mutant gene on their X chromosome: in distinction from the normal XX genotype, the genotype of a female with Rett syndrome looks like XDX (Dudek 76). It should be noted, that the discussed MECP2 gene is found on only one female X chromosome (NINDS). Girls normally have two X chromosomes, and only one X chromosome is active in each given cell (NINDS). That means that in girls diagnosed of Rett syndrome, the defective gene will control only a portion of the nervous cells – the other part will function properly, with healthy genes and normal amounts of protein (NINDS). The severity of symptoms in girls with Rett syndrome directly depends on how many cells the mutated MECP2 gene controls: in case the defective chromosome turns off in the majority of nervous cells, the symptoms of the disease will be relatively mild (NINDS). The more cells the mutated gene controls the more serious the symptoms and consequences of the disorder become. In case of boys, the MECP2 gene mutation creates an entirely different picture. Boys have only one X chromosome, and they lack a back-up mechanism that could compensate for the genetic defects (NINDS). Boys with Rett syndrome do not display any clinical signs of the disorder but die shortly after their birth (NINDS). In the current state of medicine, Rett syndrome is untreatable; nor is it curable. However, medical science offers a variety of methods and solutions, to improve the quality of life in girls with Rett syndrome and alleviate some of their behavioral symptoms. In case of Rett syndrome, it is essential that physicians are aware of how the disorder develops (Gillberg 242). This knowledge will guarantee that physicians do not confuse the signs and symptoms of Rett syndrome that develop with age with other developmental disorders. In girls with Rett syndrome, language comprehension and communication are particularly problematic, but a connection between the child and other family members can be created by means of gaze contact and manual prompting (Gillberg 242). Children with Rett syndrome have a chance to develop and maintain some hand function, which is possible only when both hands are being trained separately, every day, for a long period of time (Gillberg 242). Some pharmacological treatments are available, too: for example, bromocriptin and naltrexone were recommended in the form of supportive therapy for children with Rett syndrome (Gillberg 242). However, the detailed effects of these medical preparations on children with Rett syndrome are only partially known. The outcomes of Rett syndrome are yet to be explored. Most probably, girls with Rett syndrome will become severely mentally retarded and dependent on other people in all spheres of their life (Gillberg 242). Mental and psychomotor retardation, nevertheless, do not reduce the chances to live a relatively long life (Gillberg 243). Needless to say, such individuals require constant medical and individual support. At present, Rett syndrome remains one of the most popular objects of scholarly analysis. The growing body of evidence contributes to the knowledge of genetic mechanisms responsible for the development of Rett syndrome in girls. However, modern researchers are more interested in the symptoms and signs of Rett syndrome and their effects on life functioning. For example, Downs et al explored the relation between purposeful hand function and the severity of Rett syndrome in girls (817). Freilinger et al analyzed the rates of mortality among female subjects diagnosed of Rett syndrome and concluded that the median age of death was 13.5 years (962). Researchers also seem increasingly interested in how Rett syndrome correlates with other, related symptoms and signs, e.g. scoliosis and hip fracture (Tay et al 93). However, the current knowledge about the disorder does not suffice to produce an objective picture of its projections and outcomes. The future research will need to concentrate on the analysis of the genetic mechanisms behind Rett syndrome and medical treatments that could mediate the influence of the mutated genes on the nervous cell functioning. Also, researchers need to develop effective diagnostic criteria, to identify and address the disorder early in life. Conclusion Rett syndrome is a serious neurological disorder, which is caused by the failure of the principal genetic mechanisms. Severe mental and psychomotor retardation are the basic signs of Rett syndrome. 1 in 15,000 females is subject to the risks of developing Rett syndrome. The mutation of the MECP2 gene is responsible for the development of this disorder in infants. The gene was identified in 1999 and controls several protein synthesis functions (NINDS). In the current state of medicine, Rett syndrome is untreatable . The future research will need to concentrate on the analysis of the genetic mechanisms behind Rett syndrome and medical treatments that could mediate the influence of the mutated genes on the nervous cell functioning. Works Cited Downs, J., Bebbington, A., Jacoby, P., Williams, A.M., Ghosh, S., Kaufmann, W.E. & Leonard, H. “Level of Purposeful Hand Function as a Marker of Clinical Severity in Rett Syndrome.” Developmental Medicine and Child Neurology, 52.9 (2010): 817-23. Print. Dudeck, R.W. BRS Genetics. Lippincott Williams & Wilkins, 2009. Print. Freilinger, M., Bebbington, A., Lanator, I., Klerk, N. & Dunk, D. “Survival with Rett Syndrome: Comparing Rett’s Original Sample with Data from the Australian Rett Syndrome Database.” Developmental Medicine and Child Neurology, 52.10 (2010): 962-65. Print. Gillberg, C. Clinical Child Neuropsychiatry. Cambridge University Press. Print. Hagberg, B., Anvret, M. & Wahlstrom, J. Rett Syndrome: Clinical & Biological Aspects. Cambridge University Press, 1993. Print. NINDS. “Rett Syndrome Fact Sheet.” National Institute of Neurological Disorders and Stroke, 2010. Web. 19 December 2010. Tay, G., Graham, H., Graham, H.K., Leonard, H. & Reddinbourgh, D. “Hip Displacement and Scoliosis in Rett Syndrome – Screening is Required.” Developmental Medicine and Child Neurology, 52.1 (2010): 93-8. Print. Read More