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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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Down Syndrome And Its Effects On Children
Abstract
Down syndrome is an inherited disorder caused when abnormal cell division occurs the outcome is
an extra genetic material from chromosome 21. Having an extra chromosome affects the physical
appearance of an individual and also causes health issues and delayed development. With Down
syndrome being the most common genetic chromosomal disorder and cause of learning disabilities
in children, we like to see how the student would interact in a school setting. How would a student
with Down syndrome have an impact on ones' household or institute? A supportive family and
teacher can be very accommodating by guiding them to a self– assisted life–style. Technology these
days has the capacity to allow us to do anything; therefore it can help with a variety of life skills for
the student. Even research interventions have increased greatly over the last 40 years for benefitting
people with Down syndrome. Keywords: chromosome, disabilities, self–regulating, interventions,
Down syndrome
Students with Down syndrome
Down syndrome is noted to be the most common as well as most prevalent chromosomal disorder in
humans. It is also the most common cause of academic disability.
The concern for children with Down syndrome, who may need special education, falls to general
education teachers and their parents. Teachers are usually on their own when it comes to figuring
out how to modify lessons to help the student with Down syndrome, and evaluating potential
interventions to his or
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Genetic Disorders and Down Syndrome Essay
A genetic disorder is a disease that is caused by an abnormality in an individual's DNA.
Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an
entire chromosome or set of chromosomes" (Letsou). Most individuals are either related to or
know someone who is effected by some type of disability. Many of these disabilities are caused by
genetic disorders. Genetic disorders may alter physical appearance and cause mild to severe mental
retardation. Fragile X syndrome, Down syndrome, Turners syndrome and many other syndromes
result from a mutation of a chromosome, an extra chromosome, or too few chromosomes.
Discovered in 1991, Fragile X syndrome is considered a fairly new genetic disorder. According
...show more content...
Unlike many other syndromes those affected by Fragile X are expected to have an average life
span and have fewer health problems. Down syndrome, also known as trisomy 21, or trisomy G is
one syndrome that has many characteristics. In 1866 "English doctor, John Langdon Down
published a description of the condition" (Downs Syndrome Association). According to Genetics
Home Reference, Down syndrome is a chromosomal condition that is associated with intellectual
disability, a characteristic facial appearance, and weak muscle tone in infancy. Down syndrome is
caused by an extra copy of the 21st chromosome. Unlike Fragile X syndrome, Down syndrome is
most commonly detected by the appearance of the individual. Approximately 15% of people with
Down syndrome "have an underactive thyroid gland. The thyroid gland is a butterfly–shaped organ
in the lower neck that produces hormones. Some of the problems these individuals may have are
heart defects, infections, hypothyroidism, blood disorders, vision problems, Alzheimer's, and a few
other problems" (Associated Conditions). However, not every individual that have Down syndrome
are faced with these health problems. In most cases, Down syndrome babies are born to women who
are much older when they give birth.
People with Down
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Down Syndrome Outline
Elena Anderson: (in a frightened voice) But.... But..... What is Down Syndrome? 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...show more content...
Although there is been a rare chance (pause) for people with Down Syndrome to become a
parents. Men with Down Syndrome are considered as sterile although the causes of sterile are not
known in detail yet. sterile meaning us a male with Down Syndrome not be able to produce
children or young.There are confirmed cases that male with Down Syndrome became fathers.
Many scientist have working on to find out why can't most of the people with Down Syndrome
can't became parents. The percentage of female become parent is 25% and foe the male is 5% of
a change that they can be parents. There is a 50% chance that they will have a child with Down
Syndrome. Elena Anderson: (sadly) so, how long my child can live? Jane O'Brien: We can't tell
the exact age your child going to live, some people with Down Syndrome live up to age 50s, 60s
and even 70s. As medical remains, the life span of many individuals will be even longer. It is true
that people with Down Syndrome on average don't live long as other normal people. However, we
are working on, to give better treatment to cure Down syndrome. Elena Anderson: Thank you
doctor for explaining what Down Syndrome is and also helped me to understand about this disease.
I want to ask you more questions about Down Syndrome, but I think this is all I can take for
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Down Syndrome Essay
Sometimes when meiosis ( the division of reproductive cells ) occurs, chromosomes may be lost,
left behind, or too many may be passed on, resulting in the birth of a child with a genetic or
congenital defect or disease. One of the most common of these genetic disorders is Down
syndrome. This disorder takes its name from Dr. Langdon Down, who was the first to describe it
formally, in 1866.
Down syndrome is a condition marked by abnormal physical and mental development that is caused
by a genetic defect. This genetic defect is caused by an extra chromosome. People born with Down
syndrome have 47 chromosomes compared to the normal amount of 46, 23 chromosomes inherited
from each parent. This extra chromosome originates more often in the...show more content...
All children with Down syndrome also have learning difficulties to some extent and there is a large
variation in handicap. In some cases Down syndrome may be discovered before birth through a test
known as amniocentesis in which fluid is taken from around the baby and the fetal cells are
examined for the extra chromosome.
People with Down syndrome are usually exceptionally happy, gentle, and loving. As children, they
need loving care and extra attention to make sure that their minds are stimulated. Special teaching is
also needed to ensure that these children develop as far as possible.
Until very recently children with Down syndrome had a very short life expectancy. More than half
of these children died within their first year. Other Down syndrome babies were institutionalized
soon after birth. Today most of these children can now be raised by their natural families, and many
can lead adult lives that are satisfying and productive due to advances in medical treatment that have
increased the life expectancy and improved the quality of life of those with Down syndrome. Today
doctors are able to surgically repair heart and gastrointestinal defects, control infections with
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Down Syndrome: A Mental Illness
A mental Illness refers to a wide range of mental health conditions – disorders that affect your mood,
thinking and behavior. Downs syndrome is a congenital disorder arising from a chromosome defect,
causing intellectual impairment and physical abnormalities including short stature and a broad facial
profile. It arises from a defect involving chromosome 21. Down syndrome is random and it can
affect anyone. There is no cure and no precautionary steps. Down syndrome affects millions of
people each year. With research we can find new ways to treat this disease and help the ones who
are affected.
Down syndrome was first discovered in 1866 by Doctor John Langdon Down. He first described
Down syndrome as a neurological disorder, but he misunderstood how Down syndrome is caused.
Another doctor by the name of Jerome Lejeune discovered the cause of Down syndrome in 1959. In
the 20th century, many people with Down syndrome were killed and neglected. They were put in
institutions and were subject to many experiments including lobotomies. But over the years society
has been able to understand Down syndrome and has now started an effort to find a cure. In the
United States today, Down syndrome affects over 400,000 people....show more content...
A person with downs syndrome has extra chromosome. The defect usually involves the twenty
first chromosome. With this chromosome defect you do not develop like the average human
being. With Down syndrome you have a short body stature and your face has a very broad profile,
the most noticeable way to tell if someone has Down syndrome is their ears and their eyes are
aligned differently than someone who doesn't have downs syndrome. When you are growing up
with Down's syndrome your speech develops much slower and it is much harder to annunciate your
words. some over time can develop great speech and some
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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
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College Essay On Down Syndrome
Down syndrome is a congenital disorder resulting from a chromosome defect. Down syndrome
affects people of all ages, race, and economic status. It causes an increased risk of health problems
and developmental issues. Researchers have found that centuries ago there were people who seemed
to depict the same features of those with Down syndrome today. In 1866, John Langdon Down was
the first to identify Down syndrome as a disorder. Before he described it as a disorder, those with
Down syndrome were killed, abandoned, or excluded from society. Many were also institutionalized
and received improper treatment because of the uncertainty of the disorder. In 1959, the French
physician JГ©rГґme Lejeune identified Down syndrome as a chromosomal condition. Instead of the
usual 46 chromosomes present in each cell, Lejeune observed 47 in the cells of individuals with
Down syndrome.
Down syndrome occurs by nondisjunction. Nondisjunction is the failure of a pair of chromosomes
to separate during egg, or sperm, formation. The embryo ends up with three copies of chromosome
21 when the defective chromosome's egg joins with a normal sperm...show more content...
Although there is no direct treatment for Down syndrome, there are treatments for the complications
that go along with the disorder. According to the Mayo Clinic, persons born with Down syndrome
have a higher risk of heart defects, leukemia, infectious diseases, obesity, and other related
complications (Mayo Clinic Staff). There are available treatments for these conditions such as
surgery, chemotherapy and radiation, and regulated diets. The defect in the chromosomes in a person
with Down syndrome causes their immune systems to be quite weak. These weak immune systems
cause them to be much more susceptible to infectious diseases such as strep throat or chickenpox,
which can typically be treated with
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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
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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
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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
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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
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Reflection Paper On Down Syndrome
I have always been fascinated by the way that the brain works. Psychology 101 exposed me to child
development, state of consciousness and psychological disorders. The following semester, I took an
education course focused on inclusive practices within the classroom. This course taught me a lot
about the history of disability while training me to look at the world through a different
perspective. Most people are not born disabled in fact they become disabled sometime in their life.
Both classes sparked an interest in me that made me want to do further research on disorders. One
disorder that I have always wanted to know more about is Down syndrome. Another reason why I
wanted to research this topic was because my friend recently had a baby...show more content...
She said, "Emma likes to eat pureed food, but since she has started to work with a therapist we
recently noticed that she wanted to eat a sandwich the other day, which might be a small milestone
for her but for us it is really big."
Scattered throughout the narrative, the author provided references to what children and adults with
disabilities have had to endure over the last centuries in order to give a better understanding of the
political and social conceptualization of disability. At the time Sarah was born, 27 years ago, the
term "Mongolian Idiot" or Mongoloids" was still used. I was shocked to learn that in the United
States we sterilized people with intellectual disabilities until the 1970s. Positive eugenics involved
encouraging people with desirable traits– high moral standing, intelligence, a strong work ethic– to
have more babies. Negative eugenics involved keeping the undesirables from reproducing. "There
was an assumption that if lazy and dimwitted people reproduced more quickly than the virtuous and
hardworking one's society would soon be overrun by sloth, drunkenness, and poverty." By being
submerged into the history of disability I was able to understand more about the negative
stereotypes of people with disabilities, which is clearly an issue. I was also able to sympathize with
Austin when he wrote, "My assumptions about disability were so ingrained, and unconscious,
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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
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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
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Down Syndrome: An Informative Essay
Down Syndrome: An Informative Essay
Down Syndrome is the name for babies born with a disorder related to their chromosomes. It is
caused when meiosis occurs and an error occurs in the cells development. The reason for this
defect is often because the parent is over 40 or for some other reason their meiosis is not "Up to par."
The actual defect is an extra chromosome is developed during cell development. The abnormal
development results in 47 chromosomes rather than the usual 46 (23 from each parent).
This extra gene causes problems in the child's physical and mental development.
There are an estimated 5000 babies with Down Syndrome born in America every single year. While
the chances of having a Down Syndrome...show more content...
Some of these are: larger or almond shaped eyes (sometimes
Brushfield spots on the irises), smaller than normal features, such as smaller ears or a smaller nose,
short stubby fingers, a single palmar crease on their hands, and having exceptional social intelligence.
Because Down Syndrome is cause by a cell abnormality during meiosis, it can not really be proven
that Down Syndrome is hereditary. A perfectly healthy mother could have a Down Syndrome baby
even though there was never any sign of the disorder in her pedigree. There are however, three
different kinds of Down
Syndrome. 95% of Down Syndrome babies have Trisomy 21. This is the presence of extra genetic
material on the 21st pair of chromosomes. Around 4% have what is called Translocation. This is
where the extra chromosome 21 decided to break away and attach itself to another chromosome.
The last 1% is made up of those with Mosaicism. This is where some cells have Trisomy 21 while
others do not.
There is no cure for Down Syndrome. There is also not way to prevent it.
Once faced with the fact you have a Down Syndrome baby however, the baby will need various
kinds of checks and treatment to help it live. Down Syndrome babies have a very high rate of
congenital heart defects. In fact 30% to 50% have these defects. An endocardiogram is a way to
check babies for any signs of defect and start the child on treatment. Down Syndrome babies also
require more effort
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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. 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
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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
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Argumentative Essay On Down Syndrome
Many people think that a person who has Down syndrome doesn't live a normal life. Although they
do have to work harder at some things, they can do most things that everyone else can do. Some
have more issues than others. People with Down syndrome face obstacles such as physical and
behavioral abnormalities, health issues, working, and social development skills, but there are
different ways we can help. Down syndrome was named after John Langdon Down, who was the
first person to discover Down syndrome. In the earlier years it was called Mongolism, which is
no longer used because it is offensive to the Mongolians. James N. Parker and Philip M. Parker
state "Down syndrome is a chromosomal disorder caused by an error in cell division that results
in the presence of an additional third chromosome 21 or 'trisomy 21'" (10). There are different
types of Down Syndrome according to the National Down Syndrome Society (NDSS), there is
Trisomy 21, Mosaicism, and Translocation (What is Down syndrome?). There is no way to prevent
having a baby with Down syndrome although chances increase as the woman gets older. The NDSS
says, "A 35–year–old woman has about a 1 in 350 chance of conceiving a child with Down
syndrome, and this chance increases gradually to 1 in 100 by age 40" (What is Down syndrome?).
Although the risk is greater for older women, it is still possible to have a child with Down
syndrome at a younger age. Down syndrome causes physical and behavioral abnormalities. Physical
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Down Syndrome Research Paper
Down syndrome
Down syndrome is a chromosomal disorder that is a result of when a person inherits all or part of
an extra copy of chromosome 21. This can occur in a variety of ways, the causes of which are
unknown. The most common chromosomal abnormality that produces Down syndrome is Trisomy
21, a defect in which an extra or third copy of the chromosome is present in every cell in the body.
According to Parenting Magazine the number of Down syndrome births is relatively low for
18–yr–old mothers–1 in about 2100 births. In the later childbearing years the risk increases–1 in
about100 for 40–yr–old women. Two other chromosomal abnormalities cause Down syndrome and
occur in about 4–to–5% of all cases. The first, translocation, takes place when a child inherits a
small, extra piece of the 21st chromosome is attached to...show more content...
Mosaic Down Syndrome results from a second type abnormality in which only some cells in the
body have an extra chromosome. Many babies with Down syndrome have certain physical
characteristics, which are common. These signs occur in up to 80% of all cases. Some of these
traits are: the eyes have an upward and outward slant, there is a fold of the skin on the inner side
of the eye, the face has a flat appearance, the head is smaller than average, the ears are smaller and
lower set, the legs and arms are short in relation to the body, there is poor muscle tone and
reflexes tend to be weaker. If a child has six to ten signs, the doctor can be almost certain that the
child has Down syndrome. Many times parents wonder what their Down syndrome baby will be
like. Mayo Clinic Family health book says, "Your baby will be like a baby. He/she will be 100%
reliant on you
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Down Syndrome Essays

  • 1. 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 Get more content on HelpWriting.net
  • 2. Down Syndrome And Its Effects On Children Abstract Down syndrome is an inherited disorder caused when abnormal cell division occurs the outcome is an extra genetic material from chromosome 21. Having an extra chromosome affects the physical appearance of an individual and also causes health issues and delayed development. With Down syndrome being the most common genetic chromosomal disorder and cause of learning disabilities in children, we like to see how the student would interact in a school setting. How would a student with Down syndrome have an impact on ones' household or institute? A supportive family and teacher can be very accommodating by guiding them to a self– assisted life–style. Technology these days has the capacity to allow us to do anything; therefore it can help with a variety of life skills for the student. Even research interventions have increased greatly over the last 40 years for benefitting people with Down syndrome. Keywords: chromosome, disabilities, self–regulating, interventions, Down syndrome Students with Down syndrome Down syndrome is noted to be the most common as well as most prevalent chromosomal disorder in humans. It is also the most common cause of academic disability. The concern for children with Down syndrome, who may need special education, falls to general education teachers and their parents. Teachers are usually on their own when it comes to figuring out how to modify lessons to help the student with Down syndrome, and evaluating potential interventions to his or Get more content on HelpWriting.net
  • 3. Genetic Disorders and Down Syndrome Essay A genetic disorder is a disease that is caused by an abnormality in an individual's DNA. Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes" (Letsou). Most individuals are either related to or know someone who is effected by some type of disability. Many of these disabilities are caused by genetic disorders. Genetic disorders may alter physical appearance and cause mild to severe mental retardation. Fragile X syndrome, Down syndrome, Turners syndrome and many other syndromes result from a mutation of a chromosome, an extra chromosome, or too few chromosomes. Discovered in 1991, Fragile X syndrome is considered a fairly new genetic disorder. According ...show more content... Unlike many other syndromes those affected by Fragile X are expected to have an average life span and have fewer health problems. Down syndrome, also known as trisomy 21, or trisomy G is one syndrome that has many characteristics. In 1866 "English doctor, John Langdon Down published a description of the condition" (Downs Syndrome Association). According to Genetics Home Reference, Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone in infancy. Down syndrome is caused by an extra copy of the 21st chromosome. Unlike Fragile X syndrome, Down syndrome is most commonly detected by the appearance of the individual. Approximately 15% of people with Down syndrome "have an underactive thyroid gland. The thyroid gland is a butterfly–shaped organ in the lower neck that produces hormones. Some of the problems these individuals may have are heart defects, infections, hypothyroidism, blood disorders, vision problems, Alzheimer's, and a few other problems" (Associated Conditions). However, not every individual that have Down syndrome are faced with these health problems. In most cases, Down syndrome babies are born to women who are much older when they give birth. People with Down Get more content on HelpWriting.net
  • 4. Down Syndrome Outline Elena Anderson: (in a frightened voice) But.... But..... What is Down Syndrome? 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...show more content... Although there is been a rare chance (pause) for people with Down Syndrome to become a parents. Men with Down Syndrome are considered as sterile although the causes of sterile are not known in detail yet. sterile meaning us a male with Down Syndrome not be able to produce children or young.There are confirmed cases that male with Down Syndrome became fathers. Many scientist have working on to find out why can't most of the people with Down Syndrome can't became parents. The percentage of female become parent is 25% and foe the male is 5% of a change that they can be parents. There is a 50% chance that they will have a child with Down Syndrome. Elena Anderson: (sadly) so, how long my child can live? Jane O'Brien: We can't tell the exact age your child going to live, some people with Down Syndrome live up to age 50s, 60s and even 70s. As medical remains, the life span of many individuals will be even longer. It is true that people with Down Syndrome on average don't live long as other normal people. However, we are working on, to give better treatment to cure Down syndrome. Elena Anderson: Thank you doctor for explaining what Down Syndrome is and also helped me to understand about this disease. I want to ask you more questions about Down Syndrome, but I think this is all I can take for Get more content on HelpWriting.net
  • 5. Down Syndrome Essay Sometimes when meiosis ( the division of reproductive cells ) occurs, chromosomes may be lost, left behind, or too many may be passed on, resulting in the birth of a child with a genetic or congenital defect or disease. One of the most common of these genetic disorders is Down syndrome. This disorder takes its name from Dr. Langdon Down, who was the first to describe it formally, in 1866. Down syndrome is a condition marked by abnormal physical and mental development that is caused by a genetic defect. This genetic defect is caused by an extra chromosome. People born with Down syndrome have 47 chromosomes compared to the normal amount of 46, 23 chromosomes inherited from each parent. This extra chromosome originates more often in the...show more content... All children with Down syndrome also have learning difficulties to some extent and there is a large variation in handicap. In some cases Down syndrome may be discovered before birth through a test known as amniocentesis in which fluid is taken from around the baby and the fetal cells are examined for the extra chromosome. People with Down syndrome are usually exceptionally happy, gentle, and loving. As children, they need loving care and extra attention to make sure that their minds are stimulated. Special teaching is also needed to ensure that these children develop as far as possible. Until very recently children with Down syndrome had a very short life expectancy. More than half of these children died within their first year. Other Down syndrome babies were institutionalized soon after birth. Today most of these children can now be raised by their natural families, and many can lead adult lives that are satisfying and productive due to advances in medical treatment that have increased the life expectancy and improved the quality of life of those with Down syndrome. Today doctors are able to surgically repair heart and gastrointestinal defects, control infections with Get more content on HelpWriting.net
  • 6. Down Syndrome: A Mental Illness A mental Illness refers to a wide range of mental health conditions – disorders that affect your mood, thinking and behavior. Downs syndrome is a congenital disorder arising from a chromosome defect, causing intellectual impairment and physical abnormalities including short stature and a broad facial profile. It arises from a defect involving chromosome 21. Down syndrome is random and it can affect anyone. There is no cure and no precautionary steps. Down syndrome affects millions of people each year. With research we can find new ways to treat this disease and help the ones who are affected. Down syndrome was first discovered in 1866 by Doctor John Langdon Down. He first described Down syndrome as a neurological disorder, but he misunderstood how Down syndrome is caused. Another doctor by the name of Jerome Lejeune discovered the cause of Down syndrome in 1959. In the 20th century, many people with Down syndrome were killed and neglected. They were put in institutions and were subject to many experiments including lobotomies. But over the years society has been able to understand Down syndrome and has now started an effort to find a cure. In the United States today, Down syndrome affects over 400,000 people....show more content... A person with downs syndrome has extra chromosome. The defect usually involves the twenty first chromosome. With this chromosome defect you do not develop like the average human being. With Down syndrome you have a short body stature and your face has a very broad profile, the most noticeable way to tell if someone has Down syndrome is their ears and their eyes are aligned differently than someone who doesn't have downs syndrome. When you are growing up with Down's syndrome your speech develops much slower and it is much harder to annunciate your words. some over time can develop great speech and some Get more content on HelpWriting.net
  • 7. 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 Get more content on HelpWriting.net
  • 8. College Essay On Down Syndrome Down syndrome is a congenital disorder resulting from a chromosome defect. Down syndrome affects people of all ages, race, and economic status. It causes an increased risk of health problems and developmental issues. Researchers have found that centuries ago there were people who seemed to depict the same features of those with Down syndrome today. In 1866, John Langdon Down was the first to identify Down syndrome as a disorder. Before he described it as a disorder, those with Down syndrome were killed, abandoned, or excluded from society. Many were also institutionalized and received improper treatment because of the uncertainty of the disorder. In 1959, the French physician JГ©rĐ“Ň‘me Lejeune identified Down syndrome as a chromosomal condition. Instead of the usual 46 chromosomes present in each cell, Lejeune observed 47 in the cells of individuals with Down syndrome. Down syndrome occurs by nondisjunction. Nondisjunction is the failure of a pair of chromosomes to separate during egg, or sperm, formation. The embryo ends up with three copies of chromosome 21 when the defective chromosome's egg joins with a normal sperm...show more content... Although there is no direct treatment for Down syndrome, there are treatments for the complications that go along with the disorder. According to the Mayo Clinic, persons born with Down syndrome have a higher risk of heart defects, leukemia, infectious diseases, obesity, and other related complications (Mayo Clinic Staff). There are available treatments for these conditions such as surgery, chemotherapy and radiation, and regulated diets. The defect in the chromosomes in a person with Down syndrome causes their immune systems to be quite weak. These weak immune systems cause them to be much more susceptible to infectious diseases such as strep throat or chickenpox, which can typically be treated with Get more content on HelpWriting.net
  • 9. 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 Get more content on HelpWriting.net
  • 10. 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 Get more content on HelpWriting.net
  • 11. 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 Get more content on HelpWriting.net
  • 12. 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 Get more content on HelpWriting.net
  • 13. Reflection Paper On Down Syndrome I have always been fascinated by the way that the brain works. Psychology 101 exposed me to child development, state of consciousness and psychological disorders. The following semester, I took an education course focused on inclusive practices within the classroom. This course taught me a lot about the history of disability while training me to look at the world through a different perspective. Most people are not born disabled in fact they become disabled sometime in their life. Both classes sparked an interest in me that made me want to do further research on disorders. One disorder that I have always wanted to know more about is Down syndrome. Another reason why I wanted to research this topic was because my friend recently had a baby...show more content... She said, "Emma likes to eat pureed food, but since she has started to work with a therapist we recently noticed that she wanted to eat a sandwich the other day, which might be a small milestone for her but for us it is really big." Scattered throughout the narrative, the author provided references to what children and adults with disabilities have had to endure over the last centuries in order to give a better understanding of the political and social conceptualization of disability. At the time Sarah was born, 27 years ago, the term "Mongolian Idiot" or Mongoloids" was still used. I was shocked to learn that in the United States we sterilized people with intellectual disabilities until the 1970s. Positive eugenics involved encouraging people with desirable traits– high moral standing, intelligence, a strong work ethic– to have more babies. Negative eugenics involved keeping the undesirables from reproducing. "There was an assumption that if lazy and dimwitted people reproduced more quickly than the virtuous and hardworking one's society would soon be overrun by sloth, drunkenness, and poverty." By being submerged into the history of disability I was able to understand more about the negative stereotypes of people with disabilities, which is clearly an issue. I was also able to sympathize with Austin when he wrote, "My assumptions about disability were so ingrained, and unconscious, Get more content on HelpWriting.net
  • 14. 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 Get more content on HelpWriting.net
  • 15. 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 Get more content on HelpWriting.net
  • 16. Down Syndrome: An Informative Essay Down Syndrome: An Informative Essay Down Syndrome is the name for babies born with a disorder related to their chromosomes. It is caused when meiosis occurs and an error occurs in the cells development. The reason for this defect is often because the parent is over 40 or for some other reason their meiosis is not "Up to par." The actual defect is an extra chromosome is developed during cell development. The abnormal development results in 47 chromosomes rather than the usual 46 (23 from each parent). This extra gene causes problems in the child's physical and mental development. There are an estimated 5000 babies with Down Syndrome born in America every single year. While the chances of having a Down Syndrome...show more content... Some of these are: larger or almond shaped eyes (sometimes Brushfield spots on the irises), smaller than normal features, such as smaller ears or a smaller nose, short stubby fingers, a single palmar crease on their hands, and having exceptional social intelligence. Because Down Syndrome is cause by a cell abnormality during meiosis, it can not really be proven that Down Syndrome is hereditary. A perfectly healthy mother could have a Down Syndrome baby even though there was never any sign of the disorder in her pedigree. There are however, three different kinds of Down Syndrome. 95% of Down Syndrome babies have Trisomy 21. This is the presence of extra genetic material on the 21st pair of chromosomes. Around 4% have what is called Translocation. This is where the extra chromosome 21 decided to break away and attach itself to another chromosome. The last 1% is made up of those with Mosaicism. This is where some cells have Trisomy 21 while others do not. There is no cure for Down Syndrome. There is also not way to prevent it. Once faced with the fact you have a Down Syndrome baby however, the baby will need various kinds of checks and treatment to help it live. Down Syndrome babies have a very high rate of congenital heart defects. In fact 30% to 50% have these defects. An endocardiogram is a way to check babies for any signs of defect and start the child on treatment. Down Syndrome babies also require more effort Get more content on HelpWriting.net
  • 17. 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 Get more content on HelpWriting.net
  • 18. 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 Get more content on HelpWriting.net
  • 19. Argumentative Essay On Down Syndrome Many people think that a person who has Down syndrome doesn't live a normal life. Although they do have to work harder at some things, they can do most things that everyone else can do. Some have more issues than others. People with Down syndrome face obstacles such as physical and behavioral abnormalities, health issues, working, and social development skills, but there are different ways we can help. Down syndrome was named after John Langdon Down, who was the first person to discover Down syndrome. In the earlier years it was called Mongolism, which is no longer used because it is offensive to the Mongolians. James N. Parker and Philip M. Parker state "Down syndrome is a chromosomal disorder caused by an error in cell division that results in the presence of an additional third chromosome 21 or 'trisomy 21'" (10). There are different types of Down Syndrome according to the National Down Syndrome Society (NDSS), there is Trisomy 21, Mosaicism, and Translocation (What is Down syndrome?). There is no way to prevent having a baby with Down syndrome although chances increase as the woman gets older. The NDSS says, "A 35–year–old woman has about a 1 in 350 chance of conceiving a child with Down syndrome, and this chance increases gradually to 1 in 100 by age 40" (What is Down syndrome?). Although the risk is greater for older women, it is still possible to have a child with Down syndrome at a younger age. Down syndrome causes physical and behavioral abnormalities. Physical Get more content on HelpWriting.net
  • 20. Down Syndrome Research Paper Down syndrome Down syndrome is a chromosomal disorder that is a result of when a person inherits all or part of an extra copy of chromosome 21. This can occur in a variety of ways, the causes of which are unknown. The most common chromosomal abnormality that produces Down syndrome is Trisomy 21, a defect in which an extra or third copy of the chromosome is present in every cell in the body. According to Parenting Magazine the number of Down syndrome births is relatively low for 18–yr–old mothers–1 in about 2100 births. In the later childbearing years the risk increases–1 in about100 for 40–yr–old women. Two other chromosomal abnormalities cause Down syndrome and occur in about 4–to–5% of all cases. The first, translocation, takes place when a child inherits a small, extra piece of the 21st chromosome is attached to...show more content... Mosaic Down Syndrome results from a second type abnormality in which only some cells in the body have an extra chromosome. Many babies with Down syndrome have certain physical characteristics, which are common. These signs occur in up to 80% of all cases. Some of these traits are: the eyes have an upward and outward slant, there is a fold of the skin on the inner side of the eye, the face has a flat appearance, the head is smaller than average, the ears are smaller and lower set, the legs and arms are short in relation to the body, there is poor muscle tone and reflexes tend to be weaker. If a child has six to ten signs, the doctor can be almost certain that the child has Down syndrome. Many times parents wonder what their Down syndrome baby will be like. Mayo Clinic Family health book says, "Your baby will be like a baby. He/she will be 100% reliant on you Get more content on HelpWriting.net