Fragile X Syndrome Essay - 1159 Words

There are many forms of mental retardation. Webster’s New World Dictionary defines mental retardation as â€Å"a condition, usually congenital, characterized by subnormal intelligence† (Agnes, p404). Mental retardation can be caused by a certain birth defect due to a traumatic event during the mother’s pregnancy, or mental retardation can also be inherited. The most common inherited form of mental retardation is Fragile X Syndrome. Fragile X Syndrome was identified in the year 1991. This disability affects more males than females. Approximately 1 in 4,000 males are affected, however only 1 in 8,000 females are affected (Lombroso, 2003). Fragile X generates in the FMR1 gene. Fragile X is caused by an excessively repeating tri-nucleotide,†¦show more content†¦POF can lead to early menopause or infertility in females with Fragile X. Speech and language can be two strengths in girls with Fragile X. Verbal skills in girls with FX are also generally good with no speech problems. The area of conversational skills could be a weakness for girls with Fragile X (NFXF, 2005). There are many characteristics as you look at both the male and female side of the disability. One main characteristic is that many people with Fragile X also have autism, or possess many behaviors that are autistic-like (NFXF, 2006). Autism is defined as â€Å"a developmental disorder marked by impaired social interaction, communication difficulties, etcâ€Å"(Agnes, p43). About 2 to 6% of children with Autism have Autism because of Fragile X. About one-third of children with Fragile X have Autism (NFXF, 2006). Also, many people with Fragile X can be confused to have Downs Syndrome. The physical characteristics of Fragile X can be similar to Downs Syndrome. These Fragile X Syndrome 5 characteristics can consist of prominent ears and forehead, high palate, flat feet, and flexible finger joints (FX Syndrome, 2007). Although many characteristics are similar to Downs Syndrome, children with Fragile X have been found to have fewer mistakes in many areas of speech than the children with Downs Syndrome (Roberts, et al., 2005). Other characteristics can range from learning disabilities to moreShow MoreRelatedThe Genetic Mutation Fragile X Syndrome Essay922 Words   |  4 PagesThe genetic mutation Fragile X syndrome is the most commonly inherited form of intellectual disability. Because the disease was first studied in 1943 by British physician James Purdon Martin and British human geneticist named Julia Bell, Fragile X is also referred to as Martin-Bell syndrome. Though it was not until 1969 that scientist Herbert Lubs discovered what exactly causes Fragile X syndrome. He explained that those who obtain the mutation will possess an X chromosome with an unusual gapRe ad MoreCommunicating with Fragile X Syndrome Children Essay2092 Words   |  9 Pages000 males and 1 in 8,000 females are affected by Fragile X Syndrome(CDC)? Fragile X Syndrome affects does not only affect the young or the old but it will affect anyone of any age. Children who have Fragile X Syndrome can learn many different ways of communicating with others. Also there are many ways to help a Fragile X children become more socially active. There are many ways to help Fragile X Syndrome children to communicate. Fragile X Syndrome effects people of all ages from birth till deathRead More The Neurobiology of Mental Retardation: Fragile X Syndrome Essay1549 Words   |  7 PagesRetardation: Fragile X Syndrome In my previous paper, I wrote on the topic of the nature-nurture debate and the ways it related to the brain-equals-behavior dilemma. In this paper, I will continue this investigation into the link between genes and neurobiology, but I will focus in on a particular aspect of the relationship: neurological disease caused by genetic aberration. There are many well studied and well documented (thought not necessarily well understood) disorders associated with the X chromosomeRead MoreEssay on Fragile X Syndrome1374 Words   |  6 Pagesmental impairment is Fragile X Syndrome. Fragile X Syndrome is a mental retardation that affects social, learning and intellectual disabilities. It is a result of a change and mutation in a single gene, which can be pasted on to future generations. Symptoms arise when the mutated gene, FMR1, cannot produce enough of the protein, FMRP, that the body’s cells need to function. The symptoms can vary from each affected individual depending on how seve re the gene mutation is. Fragile X causes symptoms suchRead MoreThe Genetic Mutation Fragile X Syndrome Essay960 Words   |  4 PagesThe genetic mutation Fragile X syndrome occurs on a segment of human DNA. Because the disease was first studied in 1943 by British physician James Purdon Martin and British human geneticist named Julia Bell, Fragile X is also referred to as Martin-Bell syndrome. Though it was not until 1969 that scientist Herbert Lubs discovered what exactly causes Fragile X syndrome. He explained that those who obtain the mutation will possess an X chromosome with an unusual gap. The gap located on the chromosomeRead MoreFragile X Disease Essay1587 Words   |  7 PagesFragile X is a disease which severely influences the everyday lives of those affected by it. It is a disease which unfortunately limits an individual in several respects. Physical symptoms include an elongated face with larger than normal ears and feet. Additionally, the individual will have a d ifficult time interacting with others due to shyness and trouble with processing faces, thus encountering behavioral road blocks. Most importantly, the individual may have intellectual disabilities such asRead MorePrevention For Disease Control And Prevention1428 Words   |  6 Pagesestablished which may be accessible and available in the next years to come (Center for Disease Control and Prevention, 2014). Treatment for Fragile X Syndrome FRAXXA, one of the leading companies that is in search for a cure to FXS does its best to extensively study and analyze fragile X syndrome. Although it is true that there is no cure for fragile X syndrome yet, there are now available procedures and intervention programs that are meant to control the progress of the condition. These breakthroughsRead MoreReflection On Fagile X Syndrome751 Words   |  4 Pagestwo presented over Fragile X Syndrome. I will be honest, most of this section will be from what I read from the slides (or past knowledge presented) because I could not follow that presentation—but I will talk more about why in the process section. Fragile X is the most common INHERITED cause of intellectual disabilities. It affects 1 in 4,000 males and 1 in 8,000 females. The reason it affects more males than females is because the syndrome is caused from a mutation on the â€Å"X† sex chromosome. SinceRead MoreWhat is Autism?1999 Words   |  8 Pages 5671). Fr agile X syndrome (FXS) is the most common inherited form of intellectual disability and is universally recognized as the monogenic cause of Autism. The gene responsible for Fragile X Syndrome, FMR1, is located on the long arm of the X chromosome. It contains a CGG repeat sequence in the 5’-untranslated region that, on expansion to greater than 200 repeats, results in gene methylation and transcriptional silencing of the FMR1 gene. The absence of its protein product, fragile X mental retardationRead MoreThe Genetic Factors of Learning Disabilities Essay3049 Words   |  13 Pageslearning disorder that I would like to discuss is Fragile X syndrome. Fragile X, often called Martin-Bell syndrome for it’s the man who discovered it is a trinucleotide repeat disorder that is found on the sex chromosome X. Fragile X was discovered by Bell in 1943 after he examined a family in which all the boys showed signs of mental retardation. He discovered that the boys X chromosome he fo und that the long arm had become thin and fragile looking. Fragile X affects the genders separately due to its location

John Keats s On First Looking Into Chapman s Homer

An English Romantic poet by the name of John Keats was known as one of the best romantic poets of the 18th century for his excellent perspective on nature. As well as the relationship between man and nature. He allows readers to truly visualize nature in their mind when they read his work. John Keats’s poem, On first looking into Chapman s Homer was written in 1816. The sonnet tells the reader about how Keats compares his experiences to reading about Homer’s novel dealing with Odysseus’s experience of adventures around the world. Keats gives the reader a sense of how going to so many places does not mean that you have truly seen the world as a whole. You have a take a step back and look at the bigger picture to embrace and understand there is so much more beyond what you have already seen. There are parts of the world that you have not explore fully or discover. On first looking into Chapman’s Homer is known as an Italian or petrarchan sonnet. An Italian o r petrarchan sonnet contain an octave and a sestet. There are two rhyme schemes in the octave that goes as a, b, b, a, a, b, b, a. As shown in the first four lines of the poem, â€Å"Much have I travell’d in the realms of gold, And many goodly states and kingdoms seen; Round many western islands have I been Which bards in fealty to Apollo hold.† As for the sestet, it only has two rhyme schemes; c, d, c, d. Referring to the ninth line in the sonnet, â€Å"Then felt I like some watcher of the skies. When a new planet swims into hisShow MoreRelatedOn First Looking Into Chapmans Homer(C.a)1169 Words   |  5 Pages the free encyclopedia ------------------------------------------------- On First Looking into Chapman s Homer Much have I travell d in the realms of gold, And many goodly states and kingdoms seen; Round many western islands have I been Which bards in fealty to Apollo hold. Oft of one wide expanse had I been told That deep-browed Homer ruled as his demesne; Yet did I never breathe its pure serene Till I heard Chapman speak out loud and bold: Then felt I like some watcher of the skies When a newRead MoreA Few Miles Above Tintern Abbey, By William Wordsworth And On First Looking Into Chapman s Homer1190 Words   |  5 PagesSublime, as the keyword that guides the two major poems, â€Å"Lines Written a Few Miles above Tintern Abbey† by William Wordsworth and â€Å"On First Looking into Chapman’s Homer† by John Keats, has helped both authors to express their genuine feelings. The word â€Å"sublime† is used when you have a great respect and a sense of excellence for something; â€Å"Of such excellence†, the feeling of awesome. The feeling awesome has a root word of â€Å"awe†, which means the feeling of respect for fear or wonder. The word canRead MoreAnalysis Of John Keats1078 Words   |  5 PagesThe Different Perspective (A Discussion on messages in John Keats poems.) John Keats was a poet in the 1800’s who was way ahead of his time. Keats left his indelible mark on literature. Even though Keats lived a hard, short life, it never stopped him from writing good literature. â€Å"He had no advantages of birth, wealth or education; he lost his parents in childhood, watched one brother die of tuberculosis and the other emigrate to America. Poverty kept him from marrying the woman he loved. And heRead MoreContemporary Issues in Management Accounting211377 Words   |  846 PagesPress in the UK and in certain other countries Published in the United States by Oxford University Press Inc., New York ß Oxford University Press 2006 The moral rights of the author have been asserted Database right Oxford University Press (maker) First published 2006 All rights reserved. No part of this publication may be reproduced, stored in a retrieval system, or transmitted, in any form or by any means, without the prior permission in writing of Oxford Universit y Press, or as expressly permitted

The Actual Real World in “The Heat Death of the Universe” Free Essays

In today†s busy world, many people get so caught up in their own ambience that they overlook all the other things out there. Some people seem treat their surroundings as if it were their own â€Å"little world†, creating tunnel vision to the array of the actual real world and all the things that occur in it. Pamela Zoline addresses this and many other issues in the short story, â€Å"The Heat Death of the Universe†. We will write a custom essay sample on The Actual Real World in â€Å"The Heat Death of the Universe† or any similar topic only for you Order Now This piece reports the abstract, somewhat crazy thoughts, of the world from an ordinary housewife to the reader. At first, these thoughts appear to be coming from a severely confused and mentally unstable person, with no point what so ever. Contrary to the evidence stated in the text, â€Å"Sarah Boyle is a vivacious and intelligent young wife†¦ proud of her growing family which keeps her busy and happy around the house† (192), the reader can see that the main character, Sarah Boyle, is quite unsatisfied with her place in life. This unhappiness stems from a wasted education, causing the apathetic housewife to resort to ceaseless contemplation, which shapes the life she has created for herself and the home she is trapped in. The fact that Sarah Boyle was well-educated is pointed out clearly in the first few paragraphs, â€Å"Sarah Boyle is a vivacious and intelligent young wife and mother, educated at a fine Eastern college† (192). This fact can be also be easily deduced by the reader after observing the knowledge Sarah presents and the vocabulary she exhibits, such as â€Å"ONTOLOGY: That branch of metaphysics which concerns itself with the problems of the nature of existence or being† (191) and â€Å"ENTROPY: A quantity introduced in the first place to facilitate the calculations, and to give clear expressions to the results of thermodynamics† (193). Clearly, such words are not ones that would be regarded as common knowledge or everyday conversation topics. The terms used by Sarah throughout the story lead the reader to regard her as some type of advanced science major. In addition to the vocabulary usage, the manner in which her mind functions and the habits she displays also guides the reader to the same assumption. Sarah demonstrates scientific thinking methods constantly; always making lists, noticing irrelevant and abstract things, counting and lettering objects, constantly pondering ideas and concerned with factual matters. Sometimes she numbers or letters the things in a room†¦ there are 819 separate moveable objects in the living room†¦ she is passionately fond of children†s dictionaries, encyclopedias, ABCs and all reference books† (193). Combining all these facts, statements, and observations the reader deduces Sarah Boyle as a scientifically educated, intelligent woman: Which leads to the question, why is Sarah a housewife? This thought seems to reoccurringly pass though Sarah†s mind as well. The mannerisms that Sarah Boyle displays evident the fact that she is unhappy with her position in life as a housewife; she feels that her education is worthless here, causing her to feel unchallenged and bored, which only leads to endless contemplation in the world she has chosen. The largest indicators of Sarah†s unhappiness are the notes that she leaves throughout the house, such as â€Å"Many young wives fell trapped. It is a contemporary sociological phenomenon† and â€Å"Help, Help, Help, Help, Help† (193). In addition to these notes, rarely does Sarah ever talk about her family; which is highly contrary to the expectations of the common housewife. When she does refer to her family, the statements are quite short, uncaring, and undescriptive. â€Å"Today is the birthday of one of the children† (192). Speaking of her family life, never does she mention a husband. Sarah only makes remarks of a questionable nature about her children, she doesn†t seem to display the motherly love or compassion one would expect; in fact, several places in the short story, the comment is made that â€Å"Sarah Boyle is never quite sure how many children she has† (196). This comment leaves the reader confused and, in addition to the numerous derogatory and confusing references made to children throughout the story, causes the reader to think that she doesn†t care for her children at all. Looking at some of the statements she makes, this is quite possible. In one situation she conceives the idea that a cereal may cause cancer, â€Å"Perhaps something is terrible wrong with the cereal†¦ Perhaps it causes a special, cruel Cancer in little children†¦ she imagines in her mind†s eye the headlines†¦ † (192). Irregardless of this idea, she excessively feeds the children the cereal â€Å"great yellow heaps of it† (192) and even goes out to the store to buy more â€Å"shopping in the supermarket†¦ a box of Sugar Frosted Flakes†. These facts combine to produce the result that she does not care if her children get cancer. Also, Sarah feels that â€Å"housework is never completed† (197), resulting in a never-ending task, that eventually drives her insane. All evidence in mind, it becomes clear that she is unhappy as a housewife, causing her to constantly create crazy ideas with her unapplied education, driving herself into an unstable mental state. With no appropriate way to apply the education Sarah has received, she resorts to using it in the only place she has as an option, her home. She starts to devise a parallel between her house and the universe. She falls back on her education and implements the theory of entropy and the â€Å"heat death of the Universe† into her own homemaking skills. According to these theories combined, â€Å"The total ENTROPY of the Universe therefore is increasing, tending towards a maximum, corresponding to complete disorder of the particles in it†¦ he Universe constitutes a thermodynamically closed system, and if this were true it would mean that a time just finally come when the Universe â€Å"unwinds† itself, no energy being available for use† (200). Sarah applies this theory in her housekeeping techniques, thinking that the more organized she is, the less disorder she creates. Therefore, she is not contributing to entropy in her own Universe, her house. Keeping entropy at a constant therefore would not contribute to the â€Å"heat death of the Universe†. Evidently, this abstract thinking is indicating some mental problems. At the end of the short story, Sarah displays a mental breakdown, combining all the unexplainable ideas that float though her mind in a physical and mental explosion. Throughout this short story, Pamela Zoline effectively addresses many relevant issues in today†s society. Through a common housewife, Sarah Boyle, the reader can observe the daily trauma and feeling of worthlessness that one may experience at what it can result in. How to cite The Actual Real World in â€Å"The Heat Death of the Universe†, Papers

Fundamentals of Computer Organization and Architecture

Question: Appraise the current major systems and architecture of the chosen organization. Provide an overview of the enterprise architecture that is suitable for a nontechnical audience. The overview must identify the key areas of the organization that can benefit from the application of an enterprise architecture analysis. Compare and contrast at least 2 architectural models that might be suitable for your selected organization. Answer: Introduction Architecture of the system represents the set of earliest design decision that are most difficult to get right and most critical to change. Architecture is the design artefact that addresses the goals of the system such as the reliability, security, modifiability, usability and real time performance (Abd-El-Barr El-Rewini, 2005). The system describes the structure and serves communication route among the stakeholders such as managers, developers, users, maintainers, marketers, customers, testers and the one who invested in the use and development of the system. The architecture evaluation method is the part of development cycle. Main text Current major systems and architecture of the organization Organisation architecture is a technology and management practice is devoted to improve the performance of the organisation and enabling the organisation to see themselves in term of integrated and holistic view of their business practices, strategic direction, technology resources and information flows (Allen Henn, 2007). The organisation architecture supports the planning and decision making of the management by cording the views of entire organisation. The system develops future and current version to integrate views and managing the transition form of current to the future operating states. The structure is frame worked for the planning, development and analysis of all the resources of the organisation. Enterprise architecture for the nontechnical audience The organisation enterprise defines how the models at different level are related to each other. The description of the model needs to be understandableto the non technical audience. The balance need to be struck to develop the artefacts that can be used to provide the required technical information to the non technical audience (Eeckhout, 2010). The enterprise architecture should allow the audience to communicate with the organisation and providing the sets of documents regarding companys performance, market share and market strategy of the organisation. This would help the organisation and allows the audience to understand the impact of IT investment and decisions. The key areas of the organization that can benefit from the application of an enterprise architecture analysis The success of the organisation architecture is bound to the implementation of the effective governance mechanisms that tends to carry the risk of failure for the architecture projects (Kowalski, 2011). The architecture analysis plays key role in the organisation in the areas of, Leadership Investment Processes Policies and principle Measurement Enabling tools The dimensions of the organisation are leadership and investment are the critical to embed the functions within the corporate system and the four dimension policies and principle; measurement, enabling tool and processes are indispensable to make the work effectively for the organisation. Architecturalmodel for the organisation The architectural model of the organisation concerned with the learning tools/techniques to visualize the information to create trendy information graphics giving information sources and solid conceptual structure (Eeckhout, 2010). Conceptual design Information graphics are from the company and synthesis different pieces of the content from the various sources. The synthesis of the information sources involves the decision to define information architecture model of the information graphic and figuring out the structure including the master plan for the company and hierarchyof information (Kowalski, 2011). Prototype design The design targets to visualize the information that are already synthesized and organised based on information of architectural model organisation rationale, information, structure and hierarchies. The prototype design is most suitable for the organisation as they are perceived as the super signs referred as the visual components (Allen Henn, 2007). The information graphics are organised to compose the visual structure based on the information architectural model. References Abd-El-Barr, M., El-Rewini, H. (2005).Fundamentals of computer organization and architecture. Hoboken, N.J.: Wiley. Allen, T., Henn, G. (2007).The organization and architecture of innovation. Amsterdam: Elsevier. Eeckhout, L. (2010).Computer architecture performance evaluation methods. [San Rafael, Calif.]: Morgan Claypool Publishers. Kowalski, G. (2011).Information retrieval architecture and algorithms. New York: Springer.