Running head: DOWN SYNDROME

DOWN SYNDROME

GENETICS DISEASE REPORT

NUR ATHIRAH KHAIRUDDIN

BIOLOGY 202

SOUTHERN ILLINOIS UNIVERSITY CARBONDALE
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Down syndrome is a birth defect caused by an extra copy or part of a copy of the
chromosome 21. The typical physical symptoms found in Down syndrome patients
are flattened face and nose, short neck, upward slanting eyes and wide short fingers
and hand. Down syndrome patients often faced slower physical development during
childhood comparing to a normal, healthy child. They will require a longer time
learning how to walk due to poor muscle tone but they are still able to be physically
active later in life like other children. Down syndrome patients also face difficulties in
thinking and learning ranging from mild to moderate, as it is rare for a Down
syndrome patient to face severe cognitive impairments. They typically have issues
on difficulties to pay attention, impulsive behaviors, poor judgment even in simple
task, slow learning with delayed speech development. The risk of having a child
increases when a woman gets pregnant after the age of 40 and Down syndrome
currently cannot be cured.

Down syndrome is known to be a result of a nondisjunction error that occurs
during cell division in the formation of an egg or sperm, which leads to the extra copy
of chromosome 21. In normal cell divisions, when a cell divides by two, pairs of
chromosome are split and separated to respective daughter cells but in
nondisjunction error, the pair of chromosome divides unevenly leading to one cell
having two chromosomes while the other one receives none. Researchers found that
90% of cases, the extra chromosome 21 comes from the mother in the egg, 4% of
the cases from the father’s sperm and the remaining occurs during fertilization
(Parkers, Mai, Canfield, Rickard, Wang, & Meyer, 2010).There are three types of
chromosomal changes that cause Down syndrome, which are the complete trisomy
21, mosaic trisomy 21 and translocation trisomy 21. The complete trisomy 21 causes
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95% of Down syndrome cases whereby when the faulty egg or sperm unites with the
respective other, it results in three copies of chromosome 21 which will then exist in
the fetus’ body cell. The mosaic trisomy 21 results in 1% case of Down syndrome
patients where only a few cells in the body does not have the extra chromosome 21
and is caused by the error in cell division after the normal egg and sperm unite.
Translocation trisomy 21 causes 4% of Down syndrome cases when the
chromosome 21 is not present in the form of “fully doubles” in one cell and can lead
to a genetic problem that can be inherited by the next generation.

Down syndrome can be diagnosed during pregnancy and after childbirth.
During pregnancy, Down syndrome can be detected with a prenatal screening test
and a prenatal diagnostic test. Prenatal screening test cannot determine if Down
syndrome is definitely present but will provide the likelihood of a fetus having Down
syndrome. A prenatal diagnostic test is done when the likelihood of Down syndrome
in a fetus increases to provide the presence of Down syndrome and it carries certain
risks to the fetus when it is done. Down syndrome currently cannot be cured fully
with any treatment and the treatments available to cater patients of Down syndrome
are specific to each individual based on their physical and intellectual needs. Early
intervention starting right after birth should be conducted to increase the positive
outcomes for them until the age 3 and later on, they will receive further treatments
through their local district school until the age of 21. Down syndrome patients carry a
greater risk on certain health problems, which can be treated medically and
surgically. A heart defect known as congenital heart disease affects almost half
babies with Down syndrome, which causes high blood pressure in lungs. Patients of
Down syndrome are recommended to receive echocardiogram to determine the
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required treatment. Vision problems such as cataracts affects about 60% of Down
syndrome’s patient and Down syndrome’s infants should have regular eye visions
exam from newborn period. Down syndrome patients also experience hearing loss
along with vision problems due to defective ear structures. Thus, hearing loss
screening and follow up hearing exam is important as they carry higher risk on
suffering ear infections and it must be treated quickly (Bull et al., 2011).

As an adult, the life expectancy of Down syndrome patients now has an
average of 50 years old and they now live a better life and receive a lot of attention
from the public. They can conduct jobs and be independent in life during adulthood
from the help from their family. One of the downside of living longer is that Down
syndrome patient might have to deal with depression such as when one of their
family members passed away but there are medications that can help them cope in
life. They also face premature aging such as dementia and it can be observe from
changes of behavior, as family members need to be there for them if they seem to
lose the skills required for daily living.

As a conclusion, Down syndrome has no cure but ongoing researches have
helped solved a lot of limitations of the syndrome. The range of disabilities issues
range from mild to moderate and they grow up slower than normal children. They are
born with risks towards other health issues that can be prevented if they are
receiving treatments as soon as possible. In the end, as patients with Down
syndrome ages, they are able to lead a normal and happy life with the help of a team
of doctors and family that can attend their special need.

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Citation

Parker, S. E., Mai, C. T., Canfield, M. A., Rickard, R., Wang, Y., Meyer, R. E., et al.
(2010). Updated national birth prevalence estimates for selected birth defects in the
United States, 2004–2006. Birth Defects Research. Part A, Clinical and Molecular
Teratology, 88, 1008–1016.

Bull, M. J., & the Committee on Genetics. (2011). Health supervision for children with
Down syndrome. Pediatrics, 128, 393–406. [top]