Contact Us
Sign In / Sign Up for FREE
Go to advanced search...

Fragile X Syndrome - Essay Example

Comments (0) Cite this document
Fragile X Syndrome By (Your Name) (Presented to) (Instructor/Tutor) (Course/Subject) (Institution/University) (City, State) (Date) Fragile X syndrome This syndrome is also called Martin-Bell syndrome and other scientists have given it a third name, Marker X syndrome…
Download full paperFile format: .doc, available for editing
GRAB THE BEST PAPER95.7% of users find it useful
Fragile X Syndrome
Read TextPreview

Extract of sample "Fragile X Syndrome"

Download file to see previous pages Number one cause of such disorders is Trisomy 21. It has high male preponderance with females generally acting as carriers. Overall, it affects about 1 in every 4000 males and 1 in every 8000 females, giving a male to female ratio of 2:1. It is a sex linked dominant condition that occurs and has reduced penetrance (Denman, 2011). Causes The most important cause of this symptom is genetic abnormalities and mutation of the fragile X retardation 1 gene (FMR1) on the X chromosome. This leads to development of more CCG trinucleotide repeats in the position 5’ un-translated region of the gene. Apart from this translocation, there can be a point mutation that affects the gene causing the condition. Since there is a mutation on the mentioned gene, many repeat codons are available. Therefore methylation of the gene on band Xq27.3 leads to development of a constriction of a portion on the X chromosome hence development of fragility (Hagerman & Hagerman, 2002). Signs and symptoms of the condition This condition generally affects most systems in the body. Problems are observed in the following areas: developmental and cognitive behaviors, musculoskeletal and central nervous systems, general behavior and recurrent nonspecific illnesses. These signs and symptoms are discussed below. Developmental Generally, the patient has delayed mile stones as compared to other infants of the same chronological age. This means that the normal time taken to reach important goals like supporting the head, crawling, standing and even walking are not reached at the normal times that other infants without the condition take. Delays in language and speech are often noted after reaching the first year of life together with impairment of fine motor skills. Preservation and echolalia tend to dominate the patient’s speech as he grows up and these can sometimes be accompanied with lose of expressive language ability with a very short term memory (Hagerman & Hagerman, 2002). Cognitive signs and symptoms Low intelligent quotient is often noted (20-70) although that for females may approach 80. This IQ also tends to be higher in children and reduced or low in adulthood since there is progressive mental retardation as the patient grows up. Neurophysiology The patient appears depressed almost always with episodes of anxiety. They tend to develop an autistic like behavior and an oppositional defiant disorder. The children have difficulty in coping with altered routines and seizures often develop between the age of 6 and 24 months. They also might develop tantrum episodes and self-injurious behaviors. Some males develop features that closely resemble attention deficit disorders which might include attention deficits (Upner, 2007). In musculoskeletal system, the chest often appears pigeon shaped a term known as pectus excavatum. The joints of the body are lax, hyper extensible and have dislocations. The spinal cord is also deformed, having a shape called scoliosis. The muscles are hypotonic and the feet are flat (Carvajal & Aldridge, 2011). Other symptoms include the following: Feeding difficulties that might include reflux or vomiting. This might be associated with low weights during infancy. Other children might develop obesity caused by severe hyperphagia. The patients might also have reduced visual acuity, strabismus, recurrent sinusitis and otitis media. The males often have testicular hyperplasia and obesity that leads to poor linear growth with diffuse and hyper pigmented skin. Generally, the patients have small ...Download file to see next pagesRead More
Cite this document
  • APA
  • MLA
(“Fragile X Syndrome Essay Example | Topics and Well Written Essays - 750 words”, n.d.)
Fragile X Syndrome Essay Example | Topics and Well Written Essays - 750 words. Retrieved from
(Fragile X Syndrome Essay Example | Topics and Well Written Essays - 750 Words)
Fragile X Syndrome Essay Example | Topics and Well Written Essays - 750 Words.
“Fragile X Syndrome Essay Example | Topics and Well Written Essays - 750 Words”, n.d.
  • Cited: 0 times
Comments (0)
Click to create a comment or rate a document


Madam X

... Madam X Figure Madame X (Madame Pierre Gautreau) – 1883-1884 By John Singer Sargent. Accessed on 1st December Part1: Formal Analysis Value/Tone In this image, the artist intended to capture viewers’ attention by dexterously employing an aspect of value. This is evident in the way the entire picture in comparison to the woman; the latter bears strong tonal color intensities that will enable her to stand out (“The Metropolitan Museum of Art”). Other areas in the image seem to have less shading intensities compared to the woman’s stature whose lighting is a bit strong. Hence, combining with other aspects like line intended by the artist to draw viewers’ attention towards...
6 Pages(1500 words)Essay

Malcolm X

...? MALCOLM X The film Malcolm X is a film produced in the year 1992. It is essentially a biographical film that dwells around the African American activist Malcolm X. The film is co written and directed by Spike Lee, the actors and actresses who feature in the film are Denzel Washington who plays the role of Malcolm X, Angela Basset who plays the role of Dr. Betty Shabazz, Albert Hall who plays the role of a tough and strict muslim leader, Al Freeman Jr. who plays the role of Elijah Muhammad and Delroy Lindo who plays the role of West Indian Archie among others who play supporting roles. The Warner bros was the company involved with the production of the film. The essay deals indepthly the acting, the film directing, and the historical...
4 Pages(1000 words)Assignment

Malcome X

...?Malcolm X and of the 0 Introduction Malcolm X was a passionate and gifted black orator that was born in 1925. Malcolm, who was born in Nebraska, was an influential African-American nationalist leader. He was also a Muslim minister, and acted as the Islam’s spokesperson. As a result of his influence, the number of Muslims grew from four hundred in the beginning of the 1950s to more than forty thousand in 1960. History claims that Malcolm was born in a family of eight children. Being born to Earl Littles, who was a member of the ‘Universal Negro Improvement Association ‘, Malcolm experienced a firsthand racism at an early age. This was due to the fact that his family was harassed by the White racists (Abernethy 8). For instance, Malcolm...
14 Pages(3500 words)Essay

Fragile X Syndrome and Its Impact on Children's Language, a newly diagnosed individual may be the first (Your Child, 2003; What Is Fragile X, 2006). The condition, also called Martin-Bell syndrome, is statistically moderate to severe in boys and normally manifests a mild form of impairment in girls. From 15% to 20% of those with Fragile X syndrome (FXS) exhibit autistic-type behavior such as "poor eye contact, hand flapping, and poor sensory skills" (Edelson, 1995, para. 2). Males with fragile X syndrome may exhibit autistic-like behaviors, but it is not a major cause of autism. About 15 percent of persons with fragile...
5 Pages(1250 words)Essay

Syndrome X

...TABLE OF CONTENTS ..........................................................................................................ii Introduction....1 Various Approaches Towards Treatment of Syndrome X..2 Literature Review ...........................4 Dietary approaches towards the treatment of Syndrome X.6 Mediterranean Diet..7 Dietary approach to stop hypertension (DASH)..8 Low Carbohydrate Diet...9 Nutraceutical approaches towards the treatment of Syndrome X..11 Discussions ....................................18 Conclusion...................................24 Bibliography. .................................26 Abstract Syndrome X or metabolic syndrome is increasingly affecting people across the globe. Sedentary lifestyles with little...
25 Pages(6250 words)Essay

Fragile X Syndrome

...plan, attend, sustain effort, using feedback, monitor ones self, generating problem solving skills and shifting abilities. These are abilities that help a person to think abstractly and reasonably ("Cognitive Development Characteristics", 2009). To sum up, the cognitive aspect in sufferers of the Fragile X Syndrome is affected in many fields of the human cognition, including ones which are vital for proper learning, understanding and making sense of ones environment. Be that as it may, sufferers also have strong compensatory abilities which help them function properly. References "Cognitive Development Characteristics" (2009). The National Fragile X Foundation Website. Retrieved October 15, 2009 from ...
2 Pages(500 words)PowerPoint Presentation

China Fragile State Analysis

...China Fragile Analysis China Fragile Analysis Introduction Fragility defines a that is not in a position to provide security, social and economic development to its citizens. The definition places China in the limelight and the need to identify the source of its economic problem arises. Fragile states are mostly vulnerable to issues such as economic crisis and other natural disasters. A fragile state also experiences slow growth as compared to other low-income states and the progress on tackling chronic poverty is low (Brown & Langer, 2012). China still faces major challenges on social, economic and political international development status. Lack of a continuous economic growth in China poses a big threat worldwide as many observers point...
9 Pages(2250 words)Essay

Prosopagnosia and Capgras Syndrome

First and foremost, prosopagnosia is a disorder classically characterized as an inability to visually recognize faces despite otherwise normal visual and mental function (Caldara, Schyns, Mayer, Smith, Gosselin & Rossion, 2005). One of the defining characteristics of the disorder is that the individual is able to recognize people via other cues: such as voice or other visual traits (e.g., size, gait, mannerism, clothes, hairstyle, or even facial features (mustache, scar, blemish, or even style of make-up)). Such findings illustrate that individuals with prosopagnosia typically have otherwise intact visual and mental functioning. For example, individuals with prosopagnosia, in general, are able to make fine visual discriminatio...
7 Pages(1750 words)Term Paper

Various Aspects Related To HIV and the Deadly Acquired Immunodeficiency Syndrome

HIV is defined as the human immunodeficiency virus, as its infection causes a severe depletion in the host immune response. Its earlier names include HTLV (human T-cell leukaemia virus) type III, LAV (lymphadenopathy-associated virus), ARV (AIDS-associated retrovirus)(Pratt, 1995). The infection by this virus leads to a depressed immune state that the person becomes susceptible to infection caused by microorganisms that are otherwise the normal inhabitants of a healthy human body.

According to UNAIDS (2006) report, the total number of people in the world living with HIV infection has escalated to 39.5 million, which includes 2.5 million children. However, it seems that the disease is more severe in developing countries...
10 Pages(2500 words)Essay

Fetal Alcohol Syndrome: How Alcohol Affects Infants and Children

While we know that alcohol negatively affects the child before birth, the exact biological and chemical process is still being studied (Day, 1992).

Classified as ICD-9 and ICD-10 under the International Statistical Classification of Diseases and Related Health Problems, Fetal Alcohol Syndrome is a manifestation of permanent birth defects that are observed in the children of women who consume alcohol during pregnancy. As reported by Forrest and Florey (1991) as well as Day (1992), the level of consumption or the frequency of alcohol use while a woman is pregnant has an uncertain effect in the amount of damage that can be done to the fetus. Therefore, while the effects before birth are being studied, it becomes an importa...
6 Pages(1500 words)Term Paper

Irritable Bowel Syndrome and Peppermint Oil

Though IBS is rarely associated with any mortality, patients with irritable bowel syndrome often have a poorer quality of life due to its chronic, relapsing nature, increased morbidity and higher health care utilization than persons without the disorder. Although the cause of the disorder is not fully understood, manometric studies have shown that disordered bowel motility may be responsible for causing some of the symptoms. Diagnostic Criteria for IBS as described by Thompson et al (1999) is as follows:
conventional therapy, comprising of dietary changes like increasing dietary fiber intake, etc, and drugs such as anticholinergics, antispasmodics, and sedatives are often not significantly effective and may not be tolerated b...
14 Pages(3500 words)Case Study

Malcolm X: a Typical Religious American

His growing up years did not sound very appealing. He became involved in drug dealing, gambling, robbery, burglary, racketeering, steering prostitutes and carrying firearms in which he got imprisoned. In his prison cell, he denounced the bible and started the onsets of his connection with the Nation of Islam through his brother. He then maintained a connection with its leader, Elijah Muhammad. When he was finally released, he immediately joined the Nation of Islam, spread the Islamic teachings and became Malcolm X, symbolizing the rejection of ‘slaves names’ and the absence of an inherited African name. He soon became the minister of the Nation of Islam’s Temple Number Eleven after staying in Chicago with Elijah...
7 Pages(1750 words)Assignment

Pathophysiology of Adult Respiratory Distress Syndrome

...Topic:  PATHOPHYSIOLOGY OF ADULT RESPIRATORY DISTRESS SYNDROME Introduction A clinical syndrome, known as acute respiratory distress syndrome or ARDS, is characterised by an acute and diffuse life – threatening injury of the alveolar - capillary of the lungs, and its diverse aetiology leads to low levels of oxygen in the blood and eventually to respiratory failure refractory to oxygen therapy (Isselbacher et al., 1995; Jaeger, 1995; Robbins et al., 1995; Swierzewshi, 2000; Hansen-Flaschen, 2001; MacIntyre, 2005; Harms, 2007; NIH, 2008; American Lung Association Lung Disease Data, 2008). ARDS, formerly known as RDS, stiff lung, wet lung, and shock lung, is characterised by rapid and difficulty of breathing, which can occur to anybody...
8 Pages(2000 words)Case Study

Lennox-Gastaut Syndrome as a Childhood Brain Disorder

...Lennox Gastaut syndrome Background Epilepsy is considered as one of the first brain disorders that were known to man. More than 3,000 years ago, the term was cited in ancient Babylon. In this society, the queer behaviors and actions brought about by seizures added to many superstitions and ostracism. However, in 400 B.C, Hippocrates wrote the first ever book which featured epilepsy entitled “On the Sacred Disease”. In Hippocrates’ time, epilepsy was known to be a curse. In his book, Hippocrates lent evidence suggesting that epilepsy is a brain disorder and not otherwise (Beaumanoir, 1982). In 70 A.D literature, in the Gospel according to Mark (9:14-29), Jesus was said to have casted out an evil spirit from a man with such condition...
8 Pages(2000 words)Case Study

Organizational Behaviour: The Application of Theory X and Y

People are not just a “resource”. Each person is a complicated web of likes, dislikes, ambitions, fears, interests, passions – in short, every imaginable sentiment and belief. While it is true that people respond to a degree to external pressure, there is a point at which they will only act when they are personally convinced of the usefulness and rightness of their actions.
In an attempt to understand in a scientific way the principles by which people may be motivated, a man named Douglas McGregor had formulated a theory on human resource motivation. This is known as the principle of Theory X and Theory Y.
Almost 50 years ago, in 1960, Douglas McGregor began a debate when a published his book entitled T...
10 Pages(2500 words)Literature review

Martin Luther King and Malcolm X

His approach was non-violent, and he sought to end racial discrimination and segregation through peaceful means, and with minimal conflict. A wonderful orator, Martin Luther King is most prominent for his speech entitled ‘I Have a Dream’. Malcolm X was a little more direct in his approach, and also more radical in his ideals – he was not against violent protest, and expressed to his followers that the fight against racial oppression did not exclude violence. Unlike King, Malcolm X did not promote racial equality; rather he fought for and spoke of black pride and self-dependence.
The image is at first hand generally complex; there are many people in both the foreground and background, suggesting an air of bus...
8 Pages(2000 words)Assignment

Myalgic Encephalomyelitis and Chronic Fatigue Syndrome

...DOES MYALGIC ENCEPHALOMYELITIS (ME) EXIST? By of the of the of the School 14 July Introduction In our day to day lives, we get tired. Depression is part of life, but the mystery of chronic fatigue syndrome is that it is not what we experience on a daily basis. The earliest trait of this illness is pronounced fatigue that is sudden and characterized by relentless or deterioration, causing an early and easy exhaustion as well the feeling of hangovers by someone who apparently has no reason for the feeling. Myalgic Encephalomyelitis is an incapacitating disorder and is also known as the Chronic Fatigue Syndrome. It is known to affect both the physical and psychological functions of the body. For a long time, the condition had not been...
8 Pages(2000 words)Case Study
sponsored ads
We use cookies to create the best experience for you. Keep on browsing if you are OK with that, or find out how to manage cookies.

Let us find you another Essay on topic Fragile X Syndrome for FREE!

Contact Us