Down Syndrome Essay

Down Syndrome
. Down syndrome is not a disease that someone catches and is not caused by difficulties during
the pregnancy, it is a genetic condition. This condition is caused by the presence of an extra
chromosome in the body's cells and causes a redundant amount of proteins to be formed. All cells
of the body derive from a single cell formed by the fusion of a father's sperm and a mother's egg.
Each cell carries a nucleus full of genetic material known as genes. These genes are inherited from
both the mother and father. Each cell normally contains 46 pairs of chromosomes. 23 chromosomes
come from one parent and 23 from the other, hence the 46 pairs. When it comes to children with
down syndrome, one of the chromosomes does not separate properly and so the...show more content...
Trisomy 21, also known as nondisjunction, means that there is an extra copy of chromosome 21 in
the cell and is the most common. Translocation occurs when there are two 21 chromosomes plus
an extra piece of chromosome 21 that had attached itself to another chromosome during the
division process. Those who have mosaic down syndrome contain an extra chromosome 21 in
only some of their cells while others are unaffected. People with mosaic down syndrome tend to
have milder physical features and intellectual abilities than those who have trisomy 21 and
translocation down syndrome. According to Mark Selikowitz, maternal age is a significant factor
in causing trisomy 21. When females are born, all the eggs that a woman will produce are already
present. The eggs wait years, some longer than others to be released and it is during the wait period
(some 20–40 years) that it is believed errors can occur. On the contrary, man's sperm does not
remain standing therefore less probability for error. Additionally, people with a family history of
down syndrome and people who carry the genetic translocation are factors to consider whether the
child would be at
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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

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. The syndrome
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

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

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

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 orsperm 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

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 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 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 of Down 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

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

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