Research Paper On Down Syndrome

Research Paper On Down Syndrome
Down Syndrome
They used to be called "Mongoloids," an ethnic insult coined by John Langdon Down, an English physician during the nineteenth century. But now they
are known as people, individuals with a condition known as Down syndrome. (3). It wasn't until the 1960s that Jerome Lejeune and Patricia Jacobs
discovered the cause of Down syndrome (also called trisomy 21). But with technological advancements within the scientific community, more and
more information has been gathered about the condition that affects about one in every one thousand children born around the world. (4).
Research shows that Down syndrome is a genetic condition caused by certain chromosomal abnormalities. Chromosomes within cells are composed of
...show more content...
This is where the name trisomy 21 originates. (5).
The extra chromosome in trisomy 21 results in overexpression of the genes. Although overexpression is not noticeable in many genes, the genes that
are involved in Down syndrome seem to be quite different. In fact, not even all of the genes in the 21st chromosome need to be tripled to result in
Down syndrome. There are approximately 250 genes in the 21st chromosome, and only 20 to 50 genes need to be involved in the nondisjunction to
cause the effects of trisomy 21. The small area within the cell where genes need to be to cause Down syndrome is called the Critical Region. (3).
There are several genes that researchers believe might be involved in causing Down syndrome. Overexpression in genes such as CAF1A, Cystathione
Beta Synthase (CBS), and GART might be harmful to DNA synthesis and repair. COL6A1 overexpression may cause heart defects, and CRYA1
overexpression might aid in the development of cataracts. Overexpression of ETS2 may be the cause of leukemia and skeletal abnormalities, while the
DRYK overexpression could possibly result in mental retardation. Premature aging and decreased function of the immune system may be caused by the
overexpression of Superoxide Dismutase (SOD1). It is important to note, however, that despite many hypotheses and speculations, no gene has been
conclusively linked to
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Essay about Down Syndrome
Down syndrome
Down syndrome takes its name from Dr. Langdon Down. He was the first person to describe the syndrome in 1866. The earliest recorded incident of
someone having Down syndrome dates back to an altar piece painted in a church in Aachen, Germany in 1504. Although the syndrome is named after
Dr Langdon Down, he did not understand the condition, as we know it today. Thesyndrome was referred to as having mongolism. This was because
people who have Down syndrome have similar physical characteristics to those people of oriental heritage.
The diagnosis of the syndrome can be made shortly after birth. Most parents who find out their child has it have conflicting emotions. These can
include shock, feelings of disbelief, feelings...show more content...
There are slightly more boys born with the syndrome than girls. It is also seen in all ethnic groups.
In most cases, the doctor will be able to recognize if the child has Down syndrome right after birth. They are mostly able to tell by the child's
appreance. There are certain features that some, but not all Down syndrome children have.
1. The child with Down syndrome usually has a rounded face.
2. The back of the head is slightly flattened.
3. The eyes of nearly all children and adults with the syndrome slant slightly upwards. There is also a small fold of skin that runs between the inner
corner of the eye and the nose.
4. The mouth is smaller than average and the tongue is larger.
5. The hands tend to be board with short fingers. The little finger sometimes has only one joint instead of two.
6. The feet tend to be stubby and have a wide gap between the first and second toes.
7. Children with Down syndrome usually weigh less than average at birth. They are normally shorter than other children and tend to be overweight.
8. They have flabby muscle tone and poor coordination due to less control over the motor nerves.
9. About one third of children born with Down syndrome will be having a heart abnormality. The most common being atrioventricular septal defect.
This is when there is a hole between the two atria. About one in six children will have this abnormality.
10. Children also have vision

Down Syndrome Essay
Down syndrome is a birth defect caused by a genetic disorder that affects 350,000 people in the United States. It is caused by abnormalities in the
genes and is not inherited, meaning that parents do not pass this onto their children. Genetics is the study of heredity or how certain traits are passed
from parents to their children. Genes are the basic unit of heredity. Cells are the building blocks of your body and each one of us has more than 100
trillion cells. Our genes are located in chromosomes. Each cell in your body contains 46 chromosomes or 23 pairs. In a person with Down syndrome,
there are 47 chromosomes. In 1956, a French researcher named Jerome Lejeune used a new powerful microscope to view human strands of DNA.
DNA is what...show more content...
About 50% afflicted with Down syndrome will suffer from hearing loss. Many of these problems can be serious or even life threatening but
fortunately, most of them can be treated if they are detected early. Due to the nature of the disease and the many health issues involved, the life
expectancy for a person with Down syndrome is only 50–65 years.
Babies are born with poor muscle tone causing weak muscles and making it harder for them to develop motor skills such as using their arms and legs.
It is harder for them to grasp objects, crawl, and walk. Children with Down syndrome have difficulty with their cognitive (thinking) abilities, problem
solving, memory retention, social, language, and motor skills. This is one reason why people with Down syndrome become frustrated very easily.
Although people with disabilities are becoming more acceptable in society, we still have a long way to go. Congress has passed many laws to help
the disabled such as the Rehabilitation Act of 1973, Education for All Handicapped Children Act of 1975, and the most well known, Americans with
Disabilities Act of 1991. People with Down syndrome just want to be like every one else. Many of these people live "normal" lives. They go to
school and learn, they are taught skills and learn to be independent, they work and even get married.
There is genetic research and studies in biochemistry to find a way to

Down Syndrome (Trisomy 21)
Down Syndrome (otherwise called Trisomy 21) is the most widely recognized hereditary issues that causes a long lasting scholarly disability, formative
postponements and different issues. Down Syndrome influences individuals of any age, races, and financial levels. It is a standout amongst the most as
often as possible happening chromosomal variations from the norm, happening once in each 800 to 1000 live births. More than 350, 000 individuals in
the United States alone have Down Syndrome. My objective for this paper is to discuss the three unique sorts of Down Syndrome and to discuss the
contrasts between them.
Down Syndrome is also known as Trisomy 21, is a disorder that occurs when an extra chromosome is present on the 21st chromosome. There

Essay about Down Syndrome
To all parents, a newborn child is a small miracle, perfect and beautiful in every way. However, in many situations the parents of these miracles learn
that their children are "not normal." Every year 6,000 parents across the country are informed that their child has a genetic disorder called Down
Syndrome ("National Down Syndrome Society," n.d.). Within a matter of minutes parents learn that children with Down Syndrome can also have a
variety of other conditions and disorders, will not develop in the same way that other children do, and may even have a shorter life span. However,
children with Down Syndrome are happy–go–lucky children with a kind disposition and a wonderful personality. Also known as Trisomy 21, Down
Syndrome does not...show more content...
However, the easily spotted physical characteristics are not the only symptoms of Down Syndrome; the symptoms and medical conditions have the
potential to go much deeper. Cognitive developmental delays are extremely common in those who have Down Syndrome. This means that these
children are often slower to learn, be it educational knowledge from school or even learning to walk and talk. As children, those with Down Syndrome
develop more slowly and will often hit major milestones after other children. In addition, many have shorter attention spans and will behave
impulsively. (http://www.nichd.nih.gov/health/topics/down/conditioninfo/Pages/symptoms.aspx) When listing all of the symptoms it is easy to
believe that those with Down Syndrome are entirely different than those without the syndrome and cannot function within the normal society.
However, this is not true at all. These individuals may appear slightly different, and many people expect that they have severe cognitive disabilities.
However, Down Syndrome is usually only present with mild cognitive differences and those with the syndrome can live lives that are just as
beneficial as those without. These people are human beings as well, capable of relationships, being educated, holding jobs, and acting as normal,
playful, and happy children and adults. Down Syndrome is simply a difference in

Down Syndrome
CHAPTER 1: THE PROBLEM
A. INTRODUCTION
Having a Down syndrome is such a difficult situation for an individual to have. They have slow physical and mental capabilities that lead them to
discrimination. Physical features of having a Down syndrome. Including flattening of the head; slanting of the eyelids; a gap between the first and the
second toes; a depressed nasal bridge; relatively small ears, mouth, hands and feet; short stature; decreased muscle tone and loose ligaments among
others. Not every child with Down syndrome has all of these characteristics and some may have only a few. But other characteristic, if not appropriately
can be including hearing deficits, congenital disease, eye abnormalities,...show more content...
HISTORY English Physician John Langdon Down first characterized Down syndrome as a distinct form of Mental disability in 1862, and in more
widely published report in 1866.[9] Due to his perception that children with Down syndrome shared physical facial similarities with those of
Blumenbach is Mongolian race. Down used the term mongoloid derived from prevailing ethical theory.[10] By the 20th century Down syndrome had
become the most recognizable form of mental disability. Most individuals with Down syndrome were institution zed, few of the associated medical
problem were treated , and most died in infancy or early adult life. With the rise of the eugenics movement, 33 of the United States and several
countries began programs of force sterilizations of individuals with Down syndrome and comparable degrees of disability. The ultimate expression of
this type of public policy was ''action 7–4'' in Nazi Germany , a program of systematic murder court challenges , scientific advances and public
revulsion led to discontinuation or repeal of such sterilization programs during decades after World War Until the middle of 20th century, the causes of
Down syndrome remained unknown. However, the presence in all races, the association with older maternal age, and he rarity of recurrence had been
noticed. Standard medical text assumed it was caused by a combination of inheritable factor which had not been

Down Syndrome Essay
Down syndrome is a genetic disorder in which a person is born with an extra copy of chromosome 21. There are three genetic variations that cause
Down syndrome: Trisomy 21, Mosaic Trisomy 21 or Translocation Trisomy 21. There are many ways in which theses disorders affect the body.
Trisomy 21 occurs when an egg or sperm comes in with an extra copy of chromosome 21, then, once an embryo is formed and starts to develop, the
chromosome is replicated in every single cell of the embryo. Trisomy 21 is the most common type of Down syndrome. About 92% of Down syndrome
patients have this type. People with Trisomy usually have physical problems. Mosaic Trisomy 21 happens when an egg or sperm come in with an extra
copy of chromosome 21, then,...show more content...
Also, there is a greater risk of a child having Down syndrome if the mother is over 35 years old.
There are three ways that a mother can be tested during pregnancy to see if their child will have Down syndrome. One is amniocentesis, which is the
removal and analysis of a small sample of fetal cells from the amniotic fluid. Amniocentesis can not be done until the 14–18th week of pregnancy and
with this process there is a lower risk of miscarriage than with the other two processes. Another process is chorionic villus sampling (CVS), which is
the extraction of a tiny amount of fetal tissue at 9 to 11 weeks of pregnancy. The tissue is then tested for the presence of extra material from
chromosome 21. Chorionic villus sampling has a 1–2% chance of the mother having a miscarriage. The last process is percutaneous umbilical blood
sampling (PUBS), which is the most accurate method used to confirm the results of CVS or amniocentesis. During PUBS the tissue is tested for the
presence of extra material from chromosome 21. PUBS cannot be done until the 18–22nd week and it carries a high risk of the mother having a
miscarriage.
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 Essay
Down Syndrome is a chromosomal condition related to chromosome 21. It affects 1 in 800 to 1 in 1000 born infants. People who have Down
Syndrome have learning difficulties, mental retardation, a different facial appearance, and poor muscle tone (hypotonia) in infancy.
Individuals with Down Syndrome also have an increased risk for having heart defects, digestive problems such as "gastroesophageal reflux or celiac
disease", and hearing loss. Some people who have Down Syndrome have "low activity of the thyroid gland (hypothyroidism)" – an organ in the lower
neck that produces hormones.
Down Syndrome can be diagnosed in infancy based on the characteristic medical findings. When Down Syndrome is assumed in a person, a genetic
test called a...show more content...
When there is a heart defect currently in an infant with Down syndrome, the infant is referred to a "pediatric cardiologist" for medical attention or
to a "pediatric cardiac surgeon for early surgical repair." Some infants with Down Syndrome have difficulties with swallowing or they may have
blockages in their bowels. Surgery can be performed to correct these problems. After they are corrected, they usually cause no further health issues.
Children with Down syndrome may have "frequent colds and sinus and ear infections." These are treated early and aggressively to prevent hearing
loss and chronic infections. Low thyroid levels are more common in infants who have Down syndrome. It is recommended that "thyroid level testing"
be performed at least yearly. Some infants with Down syndrome have eye problems such as cataracts (cloudy lenses) or crossed eyes (strabismus).
Surgery can help with these problems. Sucking problems related to low muscle tone or heart problems may make breast feeding difficult to begin
with. "Occupational therapists, speech therapists, breast feeding consultants and support groups usually have exact sources for the mothers of infants
with Down syndrome." Intelligence in individuals with Down syndrome ranges from low normal to very slow to learn. At birth it is not possible to
tell the level of intelligence a baby with Down syndrome will have. All areas of development including "motor

Down Syndrome Essay
Down Syndrome
Have you ever been in a situation where you were confronted by a child who has Down Syndrome and were unsure of how to act around that child?
I'm sure many of us have experienced the awkwardness that accompanies such a situation. Many people feel guilt or pity for these children, I believe
these reactions result from a lack of knowledge about the condition. Which is why I have chosen this topic.
Down Syndrome is a condition that cannot be physically passed on from one person to the next. It is a genetic disorder that is inherited through our
parents when something goes wrong during pregnancy. As a result, they have a combination of features typical ofDown Syndrome, including some
degree of cognitive...show more content...
The hands are often broad and the fingers short. The feet are compact with a gap between the first and second toe, and their hair is soft and sleek.
Such persons are also subject to congenital heart defects, many of which can be corrected surgically. They are also more likely to develop leukemia
than other members of the general population.
There are three common types of Down Syndrome, the most common one being trisomy 21, which is found in about 95% of people with Down
Syndrome. During pregnancy the formation of the egg or sperm, from a woman's or a man's pair of chromosomes normally split, so that only one
chromosome is in each egg or sperm. In trisomy 21, the 21st chromosome pair does not split and a double–dose goes to the egg or sperm. The second
type is known as translocation, found in about 3% to 4% of people with Down Syndrome. With this type an extra part of the 21st chromosome gets
"stuck" onto another chromosome. The third type, mosaicism, is found in about 1% to 2% of people with Down Syndrome. With this type an extra
21st chromosome is found in only some of the cells. There are two tests that can be done to detect if the child you are carrying has any type of
Down Syndrome, they are diagnostic and screening tests. A diagnostic test samples fetal cells and gives a definitive diagnosis. This test is usually
done between 14 and 18 weeks of pregnancy. Although fairly safe, there is a small risk

Downs Syndrome
The aetiology of Downs syndrome which means the cause of a specific disease (Mcferran, 2014). Suggests that when one of the chromosomes in
reproduction do not separate properly this is when Down's Syndrome is caused (Steven, 2005). This extra chromosome causes physical developmental
defects this causes reduced muscle tone, a small mouth with a projecting tongue and eyes that slant downwards and upwards and causing the back of
their head to be flat. Many babies born with Down's Syndrome are diagnosed with the condition after birth and are likely to have many physical defects
for example they may have reduced muscle tone, eyes that slant upwards and outwards, a small mouth with a protruding tongue and a flat back of the
head. (Hartley, 2015). Down Syndrome patients can also be afflicted with other conditions, including heart disease, Alzheimer's disease, and leukemia
(WHO, 2010). This could effect children and adults through out their life also effecting their physical and mental health....show more content...
Impaired vision is also common, which would result in the use of glasses however the NDSS states that this may not fully improve their vision
(Jeffries, 2012). This may effect Jack's mental health, which is a state of well–being (WHO, 2016). Due to language and communication barriers the
NDSS state that there is an increase in vulnerable adults with downs syndrome are becoming depressed and socially withdrawn this can effect
children and adults with downs syndrome. From the case study it does not say whether Jack has mental health issues, it does state that he has a close
circle of friends which means he is able to

Essay on Living With Down Syndrome
There are many different types of children with a myriad of needs in our school system. Included within this group of students are those who are
diagnosed with Down syndrome. There are more than 250,000 people living in the United States with a Down syndrome diagnosis (Genetics). Down
syndrome is not a hidden disability rather it has physical attributes that can make the diagnosis obvious. Furthermore, individuals with Down syndrome
and their families have to cope with multiple health issues, cognitive limitations, and the stigma of having a disability. In order to understand the
struggle that people with Down syndrome must face from the beginning of their life, we must first understand where the diagnosis came from. Down
syndrome was...show more content...
The error is known as non–disjunction, which occurs in cell division at the moment of conception (Olney). Though scientists have been able to pin
point the origin of down syndrome to this specific moment, there is little knowledge as to why the non–disjunction occurs in the first place. Early
detection is possible through amniocentesis or chorionic villus sampling, which is a test done to check for any chromosomal abnormalities while
the baby is still in utero (Olney). Women that are over the age of 35 are recommended to have this test completed because they are at risk of the
abnormalities occurring (Olney) One of the abnormalities is that they have a higher chance of having a child that has Down syndrome. Even
without early detection tests it is still possible to determine if a person has Down syndrome. This is done through karyotyping which is a test of the
number of chromosomes in a sample of body cells (Crocker). The test also looks at the size and the shape of the chromosomes. This testing helps to
identify if there are extra, missing or abnormal positioning of the chromosomes (Karyotype Test). Trisomy 21 is the most common cause of Down
syndrome. It accounts for 95 percent of cases, Translocation Down Syndrome accounts for 4 percent and Mosaic Down Syndrome accounts for only 1
percent (Crocker). Trisomy 21 has three copies of chromosome 21 instead of two

Research Paper On Down Syndrome

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