Professional Genre
Research Paper: Down's Syndrome
Down's syndrome is a genetic disorder and a chromosome anomaly. Someone with
Down's syndrome has 47 rather than the normal 46. One in every 691 babies in the United
States is born with Down's syndrome. Down's syndrome is caused when someone has an extra
copy of chromosome 21, which is why the medical term is Trisomy 21. This extra chromosome
copy causes problems with brain and body development. There can be a number of physical
and mental symptoms that come along with Down's syndrome. There are also different types
of Down's syndrome. Down's syndrome is a disorder that an individual is born with and cannot
be cured.
Down's syndrome was not discovered until the late nineteenth century. John Langdon
Down, an English physician, published a description of a person with Down's syndrome in 1866.
Down is now recognized as the "father" of Down's syndrome for his work. It was not until 1959
that a man named Dr. Jerome Lejeune, a French physician, made the discovery that a
chromosome abnormality causes Down's syndrome. His research led him to find that people
with Down's syndrome have 47 chromosomes, where as a person without Down's syndrome
have 46. A little while after, it was discovered that an extra partial or complete copy of
chromosome 21 was the cause of Down's syndrome. There is still no explanation as to why an
egg pr sperm is produced with 24 chromosomes.
In 1946 a man named Benjamin Spock wrote a book, Baby and Child Care, in it
suggesting that babies born with Down's syndrome should be immediately institutionalized.
This suggestion in a book caused many children to be institutionalized and left without families.
The institutions that these children were left in would often be under staffed which led to the
kids not getting the attention that the actually needed. They often did not educate the children
very well either. The children's development processes would be even more behind then they
already were because someone was not there working with and teaching them. These
institutions were not treating the kids justly and were not a place for a child to grow up. If it
was found out that a mother would have a baby with Down's syndrome before the baby was
born doctor's would often suggest an abortion. Doctor's believed that it was better to abort
the baby than to have it in society. People thought that people with Down's syndrome were
inadequate of being in society and would have a negative impact on it. In a 2007 article in the
New York Times it is stated that "90 percent of women who are given a Down's syndrome
diagnosis have chosen to have an abortion." Many babies were unborn and not given the
chance to live out a full and happy life because of this advice. No one knows what those kids
could have done with their lives, it could have been something amazing, but now we will never
know.
When someone has Down's syndrome a number of physical features comes along with
it. Society often instantly recognizes people with Down's syndrome because of these
prominent features. Two of the features are differences with the eyes. People with Down's
syndrome may have a palpebral slant or an epicanthal fold or both. A palpebral slant is when
the eyes have an upward and outward slant and a epicanthal fold is when there is a fold of skin
on the inner side of the eye. People with Down's syndrome may also have a flat facial
appearance and their head may be smaller than average. Their ears may also be smaller and
lower set. One of the most recognizable features of someone with Down's syndrome may be
the protruding tongue. It is caused by having a small mouth and thin lips which causes the
tongue to stick out because the inside of the mouth is smaller. Someone with Down's
syndrome may have legs and arms that are short in relation to the body. Their hands are broad
and flat with short fingers and there is a single crease across the palm, called a simian crease.
Their feet are broad and flat as well with short toes and there is often a larger space than
normal between the big toe and the other toes. It is not uncommon for a child with Down's
syndrome to have hypotonia and hyperflexibility. Hypotonia is low muscle tone and can cause
the baby to appear floppy at birth. Over time hypotonia may improve. Hyperflexibility is the
same thing as being loose-jointed or double-jointed. The joints of children with Down's
syndrome tend to be very flexible and their joints move beyond the normal range.
All of these characteristics are what society instantly recognizes about someone with
Down's syndrome. They see these things and instantly think that they cannot be up to the
same mental standards as them. They think that by just seeing their physical differences they
know everything about them. This is why people with Down's syndrome are often ostracized
from the rest of the world. They are often bullied simply because of the way they look. What
people do not realize is yes they look different, but they want the same things the rest of
society wants. People with Down's syndrome want to fit in, be happy, make friends, go to
school, play sports, go out, everything like every other person does. Just because they look
different it does not mean that they are different on the inside, and they should not be judged
because they look different.
Children with Down's syndrome may have a slower learning process. Their language
often develops slowly causing them to have a hard time with communication. Although their
learning and development processes are slower than normal it is often suggested that they are
put in general education classes. Being mainstreamed instead of separated from the other kids
often has a positive effect on the child. Their sensory motor, auditory, and language formation
often develop slowly, but their comprehension and visual memory tend to be strong. The
amount of cognitive disabilities ranges from mild to severe and is different for every person. All
people with Down's syndrome have some degree of mental retardation. It is impossible to
predetermine how much a child with Down's syndrome is able to learn. They improve learning
skills throughout their lifetime and should be educated that way. Their learning potential is
maximized by early intervention programs, good education, and higher expectations. Most
children with Down's syndrome have mild to moderate intellectual impairment. While Down's
syndrome does effect a child's ability to learn, they are not unable to learn. Children with
Down's syndrome can and do learn, but they just learn and reach goals at a different place.
Down's syndrome may also cause other health problems. There are potential for
problems that include congenital heart defects, increased susceptibility to infection, respiratory
problems, gastrointestinal disorders, and childhood leukemia. However, not every baby with
Down's syndrome develops heart problems and most of these health problems are now
treatable. A congenital heart defect will be present at birth and between 30 and 45 percent of
babies with Down's syndrome are born with heart defects. Symptoms of heart defects can
include feeding problems, a change in color during feeding, poor growth, and labored
breathing, The most common heart defect is Atroventricular septal defect. This occurs when
the valves separating the atrium from the ventricle leak allowing blood to flow in the wrong
direction. Skin problems can also occur in children with Down's syndrome. A common problem
of children is atopic dermatitis, which is when a child has a dry, red, and scaly rash usually on
the cheeks, arms, legs, or trunk. Close to 70 percent of children with Down's syndrome will
have some type of vision problem and some studies suggest that as many as 60 percent of
children with Down's syndrome experience some type of hearing loss. Down's syndrome itself
has health issues and it brings more along with it. There are many different combinations of
health issues a child may have, and a child may not have any.
There are many myths about Down's syndrome that many people hear and often
believe. One of the most popular myths is that people with Down's syndrome are always
happy. While they may seem happy a lot of the time, they go through emotions like everyone
else. People with Down's syndrome will respond to positive behaviors and will be hurt by
negative and ignorant behaviors. Another is that children with Down's syndrome will never
grow up to be independent. There are now many opportunities for adults to be involved in the
community and even live on their own. Adults with Down's syndrome are unemployed, is
another myth. A lot of businesses are seeking out adults with Down's syndrome for many
positions. Many people with Down's syndrome can be found working at a local food market,
restaurant, hotel, and nursing homes. Another misconception is that Down's syndrome is
untreatable. While Down's syndrome has no cure, there are many treatments for issues
associated with Down's syndrome. People tend to believe that individuals with Down's
syndrome will die young, however the average life expectancy is now 50 years old with many
people living into their 60's and 70's. One last common myth about Down's syndrome is that
children must be placed in segregated special education programs. All across the country
students with Down's syndrome are now being mainstreamed and learning in the general
education. This is shown to have a positive effect on the kids allowing them to feel more
included.
There are three different types of Down's syndrome: Trisomy 21, translocation, and
mosaic. Trisomy 21 accounts for more than 90 percent of cases of Down's syndrome. This type
of Down's syndrome occurs when there are three copies of chromosome 21 in all of his or her
cells. It is caused by abnormal cell division during the development of the sperm cell or egg cell.
Translocation is a form of Down's syndrome that is uncommon. It occurs when a part of
chromosome 21 becomes attached onto another chromosome before or at conception. A child
with translocation Down's syndrome have the usual two copies of chromosome 21, but they
also have additional material from chromosome 21 attached to a translocated chromosome.
Translocation is the only form of Down's syndrome that can be passed from parent to child.
However, not all cases of translocation are inherited some just happen. Mosaic is a rare form
of Down's syndrome in which the child has some cells with an extra copy of chromosome 21
and some with the normal two. This mosaic form of abnormal and normal cells is caused by
abnormal cell division after fertilization.
The first test for Down's syndrome are ultrasounds and blood tests done during
pregnancy. The doctor uses an ultrasound to measure a specific region on the back of the
baby's neck. If there are abnormalities present, more fluid than normal tends to collect in that
tissue. The results of the ultrasound are paired with blood tests that measure levels of
pregnancy-associated plasma protein-A, or PAPP-A, and a hormone known as human chorionic
gonadotropin, or HCG. Abnormal levels of the protein or hormone may indicate a problem with
the baby. If the screening tests are positive or worrisome then further testing can be done to
confirm the diagnosis. The next step of tests are called diagnostic tests. Amniocentesis is one
test that can done. A sample of the amniotic fluid surrounding the fetus is withdrawn through a
needle inserted into the mother's uterus. The sample is then used to examine the
chromosomes of the fetus. This test is usually done after 15 weeks of gestation and it holds a 1
in 200 risk of miscarriage. Chorionic villus sampling is another test that can be done. In this
test cells taken from the mother's placenta are used to examine the chromosomes of the fetus.
It is usually performed between the ninth and fourteenth week of pregnancy and carries a 1 in
100 risk of miscarriage. The last diagnostic test is called percutaneous umbilical cord sampling.
In this test blood is taken from a vein in the umbilical cord and examined for chromosomal
defects. This test is usually done after 18 weeks of gestation and carries a higher risk of
miscarriage than the other tests. This is why this test is only used if the results of the other two
tests are unclear. If none of the tests are done than a diagnosis can still be made at birth. After
birth Down's syndrome is based on the babies appearance. If the baby seems to have some or
all of the physical characteristics of Down's syndrome the doctor will order a test called
chromosomal karyotype. This test examines the babies chromosome to see if there is an extra
copy of chromosome 21 present, if so then the diagnosis is Down's syndrome.
There is still no cure for Down's syndrome, but there are treatments for some of the
problems that come with it. A child with Down's syndrome should have regular checkups and
screenings. This is for any health conditions the child may have. If the baby has a congenital
heart disease they should regularly see a cardiologist as well. The goal of medical treatments
for Down's syndrome are to manage medical conditions associated with it, while early
intervention and therapies help many people live long lives. Early intervention is a program of
therapies, exercises, and activities designed to help specifically children with Down's syndrome
or other disabilities. Federal law requires each state to provide early intervention services for
all who qualify. Physical therapy programs focus on motor development in a child. Children
with Down's syndrome often have low muscle tone, so the goal of physical therapy is to teach
children to move their bodies in appropriate ways, and improve muscle tone. Working with
them on this will allow them to reach some of their motor milestones and avoid things such as
bad posture. Speech therapy works on articulation problems that children with Down's
syndrome often have because of their small mouth and protruding tongue. A speech therapist
will help people to learn to communicate clearly, which can be achieved through talking or sign
language. Physical and speech therapy along with doctors visits help people with Down's
syndrome live full and productive lives.
Down's syndrome is diagnosed at or before birth and is a chromosomal disorder. It is
caused by having an extra copy of chromosome 21. There are three types of Down's syndrome
and many different physical and medical issues that come along with it. While Down's
syndrome has no cure, there are treatments that can help people with Down's syndrome.