Down Syndrome Research Paper

Jane O'Brien: (In a comforting voice) First, calm down, Miss Anderson. I know it’s hard for you to hear your baby has Down syndrome but please take a deep breath, I will explain everything you need to know. First of all, Down Syndrome is a genetic disorder that involves birth defects, intellectual disabilities, and characteristic facial features. Additionally, it often involves heart defects, visual and hearing impairments, and other health problems. if you thinking what is genetic disorder is. Genetic disorder is altered or faulty gene or set of genes. The four broad groups of genetic disorders are single gene disorders, chromosome abnormalities, mitochondrial

The genetic disorder of Trisomy 21, or Down syndrome is one that has often interested me. I understand that many children born with his genetic disorder can in fact live a full life, often with assistance. When answering the question of what exactly Down syndrome is, a good definition can be one describing this disorder as a genetic condition where a person has an extra 21st chromosome. The typical person has 46 chromosomes, therefore the person born with Down syndrome has 47. This extra chromosome brings with it some physical and cognitive characteristics that include mild to severe cognitive delay, low muscle tone, stunted growth, an easily identifiable upward slant to the eyes, generally a deep crease across the center of the palm and the appearance of a flat face. We have to keep in mind however, that each person with Down syndrome is an individual and might have some of these characteristics to different degrees, or possibly none at all.

Down Syndrome is not commonly genetically passed down as opposed to what some may think, it happens by random. About 1% of the cases are heredity and 5% come from the father. Although, the risk of having a child diagnosed with down syndrome increase dramatically past the age of 35. “A 35-year-old woman has about a one in 350 chance of conceiving a child with Down syndrome, and this chance increases gradually to 1 in 100 by age 40.” (ndss)

(Perry, 2010, p. 1185) The diagnosis of Down syndrome at birth is based on the presence of a constellation of physical features and is confirmed by genetic karyotyping. Karyotyping of a newborn with suspected Down syndrome is important for confirming the diagnosis, providing a degree of closure for the parents. Also, it gives the parents some guidance concerning their risk of having another child with Down syndrome. (Saenz, 1999) Referral to a medical geneticist should be arranged to provide additional information to the family.

Symptoms of down syndrome are the following Flat facial features, Small head, Short neck, Protruding tongue, Upward slanting eyes, that is unusual for the child's ethnic group, Unusually shaped or small ears, Poor muscle tone. Broad, short hands with a single crease in the palm, Relatively short fingers and small hands and feet, Excessive flexibility. Tiny white spots on the colored part or the iris of the eye called Brushfield spots, Short height. Infants and children with down syndrome may be average size at birth , but typically they grow slower and remain shorter than other children the same age. In general, developmental milestones, such as sitting, crawling or walking may occur at about twice the age of child without impairment. People with down syndrome also suffer from cognitive delays. People affected by down syndrome varies greatly, it can happen to anyone, although more common in pregnant mothers 35 years or older. the cause of down syndrome is due to having an extra chromosome, therefore it is a disorder that happens 99% randomly and only 1% genetically. Unfortunately there is no cure, treatment or prevention for down syndrome as of today, but scientists are continuing to research for a cure. People with Down Syndrome live healthy, active lives and can function in an everyday environment.

Down Syndrome cannot be prevented, but it can be detected before birth. Many health problems that happen because of DS can be treated, but the condition

Down syndrome is a genetic disorder also known as trisomy 21, that develops when there is an extra chromosome inside the cells of a person. Normally a person has 46 chromosomes so when a developing infant has an extra chromosome 21 they will have 47 chromosomes in a cell causing them to develop Down syndrome. Although you might think it is hereditary Down syndrome is not passed down from parent to baby nor do we know why it happens, it occurs at conception and there is no cure for it nor does it go away.

Down syndrome is a chromosomal condition that affects 1in every 700 kids. Down syndrome is when a child has and extra copy of chromosome 21. Down syndrome has many ways of telling if the child has down syndrome, like physical features. You can also tell if a child has down syndrome based on how they act. There are different ways of obtaining down syndrome. Kids with down syndrome are no different than kids that were born with the normal set of chromosomes, they just act a little different and need a little bit more help.

People with down syndrome experience multiple physical changes as well as developmental problems. Some common physical symptoms of down syndrome include having flattened facial features, upward slanted eyes, short neck, white spots on the iris of the eye, protruded tongue, small head, ears, hands and feet. Additionally, they have poor muscle tones, short hands with a single crease in the palm, small pinky fingers that are sometimes curved towards the thumb, and are shorter than their peers. Other behavioral symptoms may include having a short attention span, poor judgement, delayed language and speech development and slow learning skills. As an individual with down syndrome gets older, they are at a higher risk of getting

Some ways to test if an individual has Down syndrome is when a child is in the womb and an amniocentesis, chronic villus sampling, or a cordocentesis are performed. An amniocentesis is when some of the amniotic fluid id sampled. A chronic villus sampling is when a sample of the placenta is taken. A cordocentesis is when cells are extracted from the

Down syndrome is a genetic disorder that showcases mental and physical symptoms, where both develop at a slower rate compared to others who do not have Down syndrome. “One of every 700-900 babies born worldwide will have Down syndrome”

Down syndrome is sometimes called trisomy 21. This results from a chromosome disorder that results in an extra chromosome or a part of a third chromosome within the cells of a person (Blackman, 1990). “It was first identified by John Langdon Down in 1866” (Carr, 1995, p.1). Down syndrome causes learning disabilities, developmental delays, and health problems that can be very severe.

A person that has Down syndrome may have some physical problems or disabilities. Some common physical problems are: short necks, poor muscle tone, a small head and an overall smaller body. Approximately one third of babies born with Down syndrome have heart defects, most of which are now

Down Syndrome is one of the most common genetic disorders. It is one of the most leading causes of intellectual disability, causing also others health problems in a child affected by the disoter. It is important to understand that Down Syndrome, in some cases is deliberate by a third copy of trisomy 21. Some time when there is an increment of the protein expression of genes on chromosome 21 it cause a deformation on the patient with Down Syndrome. The gene trisomy is associated with the maternal age. Very young and older women have a higher risk of having a child with DS. The above genetic problems are the cause of DS in children. In 1866 British physician, John Langdon Down was the first person that described Down syndrome, as “Mongolism”

Down syndrome is a set of physical and mental traits caused by a gene problem that happens before birth. Children who have Down syndrome tend to have certain features, such as a flat face and a short neck. They also have some degree of intellectual disability. This varies from person to person. But in most cases it is mild to moderate. Down syndrome is a lifelong condition. But with care and support, children who have Down syndrome can grow up to have healthy, happy, productive lives.