Fragile X syndrome Essays

FRAGILE X SYNDROME: A COMMON UNKNOWN GENE Everyday day babies are born with disabilities. A majority of these are surprises to the new parents. Conditions such as: Down Syndrome, sensory impairments and neurological disorders are known to most people but still not anticipated. Fragile X Syndrome is a gene mutation that affects thousands of people, making it important to know how the disorder changes the social and emotional aspects of a person’s development and life. DEFINITION OF FRAGILE X SYNDROME

Fragile X Syndrome and effects on learning and development “Fragile X syndrome is the leading inherited cause of intellectual disability” (Lizbeth H. Finestack, 2009). A single gene mutation on the X chromosome causes the syndrome. It affects about 1 in 4,000 males and 1 in 6,000 to 8,000 females. (Prevention, Centers for Disease Control and, 2006). Fragile X affects all races and ethnicities. Fragile X syndrome varies in in severity. Most children with fragile X have some type of learning disability

his visits so he can talk to Laura. Amanda’s plan is for Laura to marry a young man. Laura shows Jim her glass of menagerie collection and tells him that they are fragile. He asks her to dance and accidently bumps into the table breaking the horn off the unicorn. This shows how Jim does not really listen to Laura’s warning about how fragile they were. The breaking of the glass shows how he mishandles Laura. He breaks her heart by telling her that he is engaged to another woman. The breaking of the

The Glass Menagerie, by Tennessee Williams, tells the story of how the standards of society influence two siblings. Tom and Laura Wingfield are two miserable people who no matter how hard they try, cannot seem to fit in. The play takes place in St. Louis, 1937, in which men and women have specific roles and expectations. Men are expected to have jobs, get married and provide for their family. Women are expected to get married, have babies and stay home to raise their children. However, in The Glass

How this scene emphasises Ben as taking the initiative compared to Elaine and how this initiative is important for Ben’s character development in the film as a whole. The film The Graduate is a comedy-drama about Ben, a recent graduate with no well-defined goal in life, who is seduced by his parents' friend, Mrs. Robinson, and then proceeds to fall in love with her daughter, Elaine. There is a scene where Ben tries to sabotage his first date with Elaine by driving incautiously ignoring her and forcing

transition into adult life and how he copes with modern society’s cruel and unforgiving face. In the novel The Catcher in the Rye, Holden’s traumatic experiences directly explains his immaturity and unhealthy obsession over the preservation of the fragile childhood state; although some instances highlighting Holden’s maturity may suggest otherwise, flashes of these instances do not outweigh his immature ideology and opinions. Holden’s dysfunctional family life stemming from the death of his brother

Patient’s safety is essential during hospitalisation and it is everyone concern. It is because, hospital is a place where patients’ injuries are treated, not generated. However, unintentionally injuries may be happen while in the care in the ward. The challenge for nurses are to ensure safety while giving nursing care to them. Falls are the common accidents occurred in ward. This lead harm to patient and emotional stress to the family as well. Throughout my clinical posting, there was an incident

Angel is an 18yo, primigravida, who is currently 29 weeks 4 days as dated by LMP consistent with a 17 week ultrasound performed in an emergency room in North Carolina. She did not have any PNC until 28 weeks due to her move from North Carolina to Tennessee and difficulty with insurance. She has a history of drug use involving benzodiazepines and THC. Once she found out that she was pregnant, which was early on, she stopped using anything. She has had no drug use, per her report, since early first

Thesis statement In this paper, I will be explaining what Autism is and what are the symptoms. I will also be explaining the treatment that is used to help with autism related symptoms and how proper oral care is needed in the autism community. What Is Autism ? Autism is a lifelong brain disorder that messes with the development of the brain and make it harder for a person to communicate and interact with others. Some other symptoms to autism is repetitive behaviors. Since

( the concordance rate) is only about 5-10 per cent. Autism runs in families: if there is one child in the family with autism or Asperger syndrome, the chances of another sibling also having an autism spectrum condition is about 5-10 per cent. Page 92 Autism and Asperger syndrome There is a known association between autism and fragile X syndrome, which is an X-linked genetic condition that more frequently affects males but may also have an effect on females. Autism is also sometimes seen in association

once thought that vaccination may have been a factor in the cause of autism, particularly the MMR vaccine (Yapko p.64). Research has shown to be too conflicting and has no supporting evidence of vaccines nor their ingredients playing a role in this syndrome. Another research that has been done to determine cause, is the relationship between gastrointestinal (GI) difficulties and a person with ASD. Since many people with ASD suffer from GI problems (Yapko p.64). Instead, we have learned that environmental

some 70 years ago, but its prevalence and frequency as a diagnosed condition has increased more recently. Because many syndromes and other related conditions comprise the commonly known “spectrum,” addressing autism can be a challenge. “Autism spectrum disorder (ASD) and autism are both general terms for a group of complex disorders of brain development. They include Rett Syndrome, childhood disintegrative disorder, pervasive developmental-disorder- not otherwise specified (PDD-NOS) and

Autism Spectrum Disorder is a constant developmental disability that influence how an individual communicate with, and interact with others. Some children have learning disabilities, while others have typical or above average intelligence and intellectual magnitude. ASD is a multicultural issue affecting impacts millions of children across and their families around the world. There are variety of symptoms and causes, which make it extremely difficult to determine a factor in developmental delay

A Rare Disorder called Angelman Syndrome This research paper will discuss a specific disability called Angelman Syndrome. (AS) This Syndrome is a disorder, and can be diagnosed at an early age. AS don’t have a cure, but there are ways to treat this disorder. While reading this paper, you will become aware of the causes, characteristics, diagnoses, assessments and academics of Angelman Syndrome. By the end of the paper you will be able to understand how this disorder affects children and educators

The rare condition Prader Willi Syndrome affects 1 in 10,000 to 30,000 people worldwide. Although this is considered a rare condition it 's actually one of the main reasons there are so many obese people today. “PWS affects males and females in equal numbers and occurs in all ethnic groups and geographic regions in the world. Most estimates place the incidence between 1 in 10,000-30,000 individuals in the general population” (Butler n.p.). Prader Willi Syndrome was discovered in 1956 after Andrea

much sense to me until later on. The whole appointment lasted almost two hours, but it was a very educational two hours, because in the end I found out that I not only had Scoliosis, but that I also had Ehlers Danlos Syndrome (EDS). There are three main types of Ehlers Danlos Syndrome, and I have the hypermobility type. It’s essentially a problem in your body that doesn’t allow you to produce collagen correctly. Unfortunately that affects the way my

Jonathan, a seven and a half year old boy is a social second grader who has normal intelligence. However, Jonathan was diagnosed with spastic cerebral palsy and has dysarthric speech patterns. With spastic cerebral palsy, Jonathan has difficulty regarding his motor control and movement. Confined to his wheelchair, Jonathan works independently, separate from his classmates. Jonathan cannot produce clear speech, his dysarthric speech pattern prevents him from speaking freely in the classroom and

It not so much only the fact that within the story people cannot communicate with each other because of the different language they speak, but it becomes clear how much effect prejudices have on people. Juan Pellicer calls this “a Babelian syndrome: broken communication, misunderstandings, isolation both on the global level as well as in the intimate realm of relations between children and parents, particularly with the consequences of separation and deafness” (Pellicer 240). People are so used to

The expression "pervasive formative issue," likewise called Pdds, alludes to a gathering of conditions that include postpones in the advancement of numerous fundamental abilities. PDD incorporate a few that are described via impeded equal social communication, unusual dialect advancement and limited behavioral collection. There are five sorts of pervasive improvement issue: • autistic issue • asperger's confusion • rett's confusion • childhood disintegrative issue (additionally called disintegrative

In a layman’s term, advocacy is the move to make the voice of the marginalised and vulnerable people heard. Everybody have rights and needs that must be met but some group of people, due to their inability or difficulty to voice out their minds, are unable to meet these needs or demand for their rights and entitlements; when it comes to making decisions that pertain to their lives, their voice and feelings are (sometimes) being ignored and they are treated as if they do not exist. Advocacy is the