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Collin Watt

Ms. T. Plemmons

English IV

March 9, 2017

Down Syndrome and its Challenges

Down Syndrome is the disorder resulting from a partial or complete copy of the 21st

chromosome. In fact, another name for Down Syndrome is Trisomy 21. It affects nearly 1 in 700

Americans, and it crosses all racial and economic boundaries. Down Syndrome is an inherently

complicated disease to treat with potentially over 300 misappropriated genes on that 21st

chromosome (Symptoms of Down Syndrome Alleviated). Down syndrome is a genetic

disorder that causes intellectual and developmental delays. The treatment can be as simple as

helping to complete everyday challenges.

Although many people probably know someone in their life that has Down Syndrome

most do not know the exact cause. Down Syndrome occurs when the 21st chromosome

experiences abnormal cell division. Even your everyday couple could pass along this genetic

disease. A father or mother or just the mother could have rearranged genetic material, but no

extra genetic material. This is known as being a blended carrier. A blended carrier has the ability

to pass along the extra genetic material, but shows no sign of Down Syndrome. Normally there

are 23 pairs of chromosomes, the father gives one half and the mother gives the other (Down

Syndrome Treatment).

There are 3 genetic variations that cause Down Syndrome: Trisomy 21, Mosaic Down

Syndrome, and Translocation Down Syndrome. Trisomy 21 is what 95% of people with Down
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Syndrome have. Trisomy ( or 3 copies) of the 21st chromosome is caused during cell division in

either the sperm cell or the egg cell. Mosaic Down Syndrome causes people to have only some

cells that are attached by the extra copy at the 21st cell this comes after fertilization abnormal

cell division. Translocation Down Syndrome is characterized by part of the 21st chromosome

attached (translocated) to another chromosome and the only form of the disorder that can be

passed from parent to child (Down Syndrome Treatment). The chance of passing on the

translocation depends on the sex of the parent who carries the rearranged chromosome 21. If the

father is the carrier risk is about 3 percent. If the mother is the carrier, the risk is between 10 and

15 percent (Down Syndrome Causes). Since there are several different kinds of Down

Syndrome and many degrees of each of these three kinds, one can never really tell how affected

a person is by their Down Syndrome diagnosis.

There are many medical conditions that people of all ages with Down Syndrome can

have. Each case of Down Syndrome is different, they can have one condition or many. One

such symptom related with Down Syndrome is an underdeveloped cerebellum, the portion of the

brain that is essential to motor control and spacial awareness. Smaller cerebellum are observed in

both affected human and mouse models ("Symptoms of Down Syndrome Alleviated") (see

illustration). According to previous findings, this may have been caused by the retardation in cell

division in precursor cells in the first days of birth (Symptoms of Down Syndrome Alleviated).

Many people know that people with Down Syndrome can suffer from obesity; however, there are

also many other medical conditions associated with Down Syndrome. Blocked esophagus and

small bowel are more common, as is a blockage of the airway due to soft tissues and skeletal

changes. This can also lead to obstructive sleep apnea. In Down Syndrome dementia, and
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alzheimers is a greater risk around the age of 50. Typically people with Down Syndrome live to

be about 60 years old. Hearing problems affect about 60%("Symptoms of Down Syndrome

Alleviated"). Since people with Down Syndrome have difficulty maintaining good oral hygiene,

dental problems are very common for them. Shortened roots and periodontal issues lead to teeth

becoming loose. Heart defects/complications can be life threatening and may require surgery.

Thyroid issues are more common in children, mainly hypothyroidism. Some children also suffer

from Leukemia. Children with Down Syndrome may suffer from issues with their vision. 3% of

infants have cataracts also cross eye, nearsightedness, and farsightedness ("Symptoms of Down

Syndrome Alleviated"). As one can see there are many different levels of medical issues with

Down Syndrome. There are so many medical issues that could be present as well as different

degrees of those medical issues, the combinations of the complications of Down Syndrome are

really endless.

In addition to the many medical issues, children with Down Syndrome can also encounter

many difficulties in learning. There are two kinds of expressive difficulties. First is an extreme

difficulty producing clear speech, second is producing correct grammar and sentence structures.

All areas of development are differently affected. In Down Syndrome, it seems there are

different patterns of learning difficulties. These patterns can assist teachers and care takers in

acquiring more effective teaching approaches and therapies. Down Syndrome children learn

more slowly, progression from the beginning stage of teaching a skill to mastery of that skill is

delayed ("Development and Learning for People with Down Syndrome"). Researchers are

working on a treatment called SAG that enables growth to aid in hippocampal and cerebellum

development. SAG was also found to increases synaptic performance, all while showing no
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evidence of tumor development which could be a side effect ("Symptoms of Down Syndrome

Alleviated"). A majority of children with Down Syndrome have a difficult time using their

number skills. On average their number skills are two years behind their reading skills. Studies

have suggested that when teaching a child with Down Syndrome, dont forget that it is better to

use spoken information to get them to associate a word with an object to help them recall

previous information. This study has found when pictures, gestures or objects are used to

demonstrate or project information the teaching will be more effective. There have been studies

done that have found that people with Down Syndrome learn better through visual stimuli. The

pattern that is revealed by characteristics, strengths and weaknesses is a developmental profile.

The key to effective teaching through different approaches and therapies is understanding this

developmental profile for each child ("Development and Learning for People with Down

Syndrome").

It has been suggested that children with Down Syndrome might benefit from medical

treatment that includes amino acid supplements, and a drug known as Piractam. Piractam is a

drug that some believe may improve the ability of the brain to learn and understand. However,

there have been no clinical studies with Piractam to date in the US or elsewhere that show its

safety and efficiency("Down Syndrome Treatment"). Advances in medicine continue to help

those who thought there would never be medications to help. It is easy to see that teaching

children or people who have Down Syndrome can be a challenge, there are many rewards that

come from having them be around, and from interacting with them.

Carole Hawkinson has been in the trenches with Down Syndrome for the past 26 years,

and has real world knowledge into real world experiences. There were other children through
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the adoption agency, Bethany Christian Services, with Down Syndrome that our family met and

they were great kids. There were already 3 normal kids in the family, Caroles family felt lead

to give a child with Down Syndrome a chance to have a good home when it might otherwise be

left in an orphanage. The family actually told the adoption agency we want a child that

otherwise would not get a chance to be adopted(Hawkinson, Carole) (see illustration). Raising a

child with Down Syndrome can be a challenge, every single day. Some children with Down

Syndrome are pretty easy to raise, some do not have any behaviors that make them tough in

the literal sense, though most Down kids can be stubborn! It is a big responsibility to see to it

that they get the right opportunities, are included at church and other places and that they are

pushed to keep growing and developing skills no matter how old they get. It is also a challenge

to keep track of them and keep them safe at all times, a caretaker should always be thinking

about them as toddlers in adult bodies. Most have some knowledge but only enough to be

dangerously trusting of everybody. Most do not have enough knowledge to know the bad things

that could happen to them. People with Down Syndrome can be very healthy. Jamie suffered

from shortened tooth roots so Jamie had to have all remaining teeth removed and got dentures at

the age of 27. Jamie also wears glasses.Although it is not clear how, exactly, doctors test

Jamies eyes since he does not communicate well, they do help Jamie see because the first time

he walked into a store with his new glasses on he made so many comments about all the things

that he was seeing, it seemed as if he was seeing them for the first time (Hawkinson, Carole).

Even though Down Syndrome is a genetic disorder that causes intellectual and

developmental delays the treatment for this disorder can be as simple as helping to complete

everyday challenges. Learning how to interact, live with and how to best teach people with
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Down Syndrome seems to be the best way to get along with and understand more about each

individual to help them become the best they can be. Advancements in medicine may get to the

point where these children can have medical and learning limitations reduced in the future.
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("Submit Homework/Assignment")

(Hawkinson, Carole)
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Work Cited

"Development and Learning for People with Down SyndromeS." For People with Down

Syndrome. N.p., 4 May 2016. Web. 17 Feb. 2017.

"Down Syndrome Causes." Mayo Clinic. N.p., 19 Apr. 2014. Web. 17 Feb. 2017.

"Down Syndrome Treatment." My Child Without Limits RSS. N.p., n.d. Web. 17 Feb. 2017.

Hawkinson, Carole. Phone Interview. February 28, 2017.

"Submit Homework/Assignment." Different Areas of Brain, Different Areas of Brain - HUMAN

BRAIN , Biology. N.p., 10 Mar. 2012. Web. 08 Mar. 2017.

Swarts, Katherine. Genetic Disorders. Detroit: Greenhaven, 2009. Print.

"Symptoms of Down Syndrome Alleviated." N.p., 12 Sept. 13. Web. 17 Feb. 17.