Running head: genetic Disorders

Genetic Disorders: Down syndrome

Jose N. Balderas
Midland High School
12/11/15

Author Note
Prepared for Larry McBride first period Advanced Placement Biology class.

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Abstract

Genetic disorders is an inherited disease caused by a DNA abnormality. Genetic disorders may or
may not be heritable, often rare among many. Genes are referred to the building blocks of
heredity, and are the triggers for genetic disorders if they are mutated or inherited by one of the
parents. Today there is known of three types of genetic disorders: single gene disorders,
chromosomal disorders, and complex disorders. (Medicine, 2015) Down syndrome is a set of
cognitive and physical symptoms that are the consequence from having an extra chromosome 21
or an extra part of that chromosome. It is the most common chromosomal cause of intellectual
disabilities. People with Down syndrome also have some distinct physical features, such as a
flat-looking face. (NICHD, 2014) Throughout this paper discussion over Down syndrome and its
symptoms will give a thorough explanation along with ways of treatment.

genetic Disorders

Genetic Disorders: Down syndrome

Genetic Disorders
A Genetic disorder is a disease caused by an abnormal function in DNA. The range of the
abnormalities differ in size extent, from a single-base mutation to an entire chromosome being
cut off or just part of its structure. (Disorders, n.d.) There are three main types of genetic
disorders: single gene disorders, chromosomal disorders, and complex disorders (multifactorial
disorders).
Single gene disorders is known, when there is a certain gene inflicting the abnormality,
also known as Mendelian disorder. Some examples of a single gene disorder are cystic fibrosis,
sickle cell anemia, and Fragile X syndrome to name a few. Single gene disorders are rare, with
only one possibly inheriting out of 2,500 people. (Miami, 2015)
A chromosomal disorder, is any syndrome with malformations or malfunctions in any
system within the body. People normally have forty-six chromosomes, in twenty-three pairs,
which vary in size and shape and are numbered in connection. Of the twenty-three, twenty-two
are autosomes and the number twenty-three chromosome is the sex chromosome. Any change in
this pattern will cause an abnormality within the bodies functioning systems. (Britannica, 2015)
The third type of genetic disorder is complex disorders also known as multifactorial
disorders. It is referred to as multifactorial due to the many factors there is corresponding to
this type. Compared to single gene disorders that only affect one gene, complex disorders may
affect more than one, hence the name. A person will have complex disorders if they have the
right combination of genetic differences and environmental exposures. These are the three main

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types of genetic disorders. The focus of this paper will be Down syndrome which is classified as
a chromosomal disorder.
Down syndrome.
Down syndrome is a chromosomal condition which interferes with intellectual abilities,
noticeable with physical, facial characteristics and weak muscle coordination in the early years
of life. People affected by Down syndrome experience cognitive difficulties but over time learn
to cope or surpass these problems.
Individuals with the genetic disorder Down syndrome are prone and experience several,
other medical conditions. These include gastroesophageal reflux, a backflow of acidic stomach
contents into the esophagus, and celiac disease, an intolerance of a wheat protein. About 15
percent of people with Down syndrome have an underactive thyroid gland known as
hypothyroidism. The thyroid gland is an organ in the neck that produces hormones. People with
Down syndrome also experienced an increased risk of hearing and vision complications. A small
percentage of children with Down syndrome develop cancer of blood-forming cells, called
leukemia. (Miami, 2015)
Interrupted development and behavioral problems are usually reported in children with
Down syndrome. Affected individuals' speech may be more difficult to understand. Behavioral
complications can include attention span problems, compulsive behavior, and stubbornness. A
small percentage of people with Down syndrome are diagnosed with developmental conditions
known as autism spectrum disorders. (Reference, 2013)
Symptoms. Symptoms include short, often as a child, growth is very slow and is shorter
than average height in adult years. Poor muscle tone, also called hypotonia, is sometimes
noticeable in the stomach where the muscle is not as strong making the belly stick out.

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The most noticeable symptom of Down syndrome is a short, wide neck often containing
excess fat. During infancy and through childhood, a wide space is distinguished between the big
toe and the second toe.
Of all symptoms features of the face are always prominent. Slanted eyes, occasionally
with colored spots on the iris, characterize the eyes. A nasal bridge appears to be pushed in, in
other words an area between the nose and the eyes that is flat. Small ears and irregularly shaped
mouth and tongue are more noticeable physical changes of the face. The tongue may protrude at
times through the center or corner of the mouth, often exposing irregular or crooked teeth,
usually because the teeth often come in late or not in the order that is expected of an average
child. (NICHD, 2014)
Some health problems are often associated with Down syndrome, and could be signs or
symptoms of having/containing Down syndrome. One of the first few symptoms to show up are
cognitive difficulties or disabilities. This health problem is often the most troublesome health
problem to cope with due to poor cognitive and coordination skills. Heart defects also seem to be
prominent among people who have Down syndrome, often affecting the individuals during their
childhood.
Depression is more of a consequence than a symptom although some doctors have said
could be a resulting cause of Down syndrome. Depression is something that is almost seen with
all Down syndrome individuals. Most individuals passed through that phase, but some usually
during their older years never surpass depression. ADHD and autism are also widely common
symptoms of Down syndrome.

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These symptoms may or may not occur in all Down syndrome cases, and many more are
possible, Down syndrome along with many of these symptoms may not have a cure, but can be
treated to lessen or alleviate any inconvenience or pain.
Treatment. There is no simple, standard treatment for Down syndrome. Treatments are
based on each individual's physical and intellectual needs as well as their own strengths and
limitations. Individuals with Down syndrome can receive proper medical services while living at
home or in a community facility.
An infant with Down syndrome will likely receive care from a team of health
professionals, including, but not limited to, physicians, special educators, speech therapists,
occupational therapists, physical therapists, and social workers. All these different areas of
medical professions will provide their own plan to fit the best need of the individual along their
root of required field.
Early intervention refers to a range of specialized programs and resources that
professionals in the field of medicine provide to children with Down syndrome and their
families. Research concludes that early intervention improves outcomes for children with Down
syndrome. This plan can begin shortly after birth and often continues until a child reaches age
three to five years. Most children receive interventions and treatment through their local school
district, known as special education units, after that age. (Girod, 2001)
A wide range of therapies can be used in early intervention programs and throughout an
individuals life to promote the greatest possible life they could live. Some of these therapies are
physical, speech/language, occupational, emotional, and behavioral therapies.

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Physical therapy involves activities and workouts that help buildup motor skills, increase
muscle tone, and improve stature and maneuverability. It is important for an individual to take
physical therapy in their early years of life, usually as a child, because abilities requiring physical
foundations are in need for other skills. Speech therapy will aid, to improve their communication
abilities and skills. Occupational therapy is classified as the most important for a person with
Down syndrome, this therapy helps accomplish every day needs and task, such as, self-care,
getting dressed, and eating. Behavioral therapy helps the person take control of his emotions,
usually Down syndrome individuals suffer from depression due to the fact that they got the
genetic disorder. (Girod, 2001)
A less used treatment option are medicine and supplements. These are less used in
patients with Down syndrome, because some of the medicine given might cause effects
worsening their condition. More than often people choose assistive devices before they go onto
medicine. Newer technology enhances new tools and equipment to make everyday life easier.
(Medicine, 2015)
Conclusion. Down syndrome cannot be cured but can be treated to lessen the effect. By
using any of the treatment options above this could be accomplished. Scientists still do not have
a good understanding of how the disorder works or functions and how it affects the systems of
the body, but are still further studying the syndrome.

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References

Britannica, T. E. (2015). Chromosomal Disorder. Retrieved from Encyclopedia Britannica:

http://www.britannica.com/science/chromosomal-disorder
Disorders, G. (n.d.). What are Genetic Disorders? Retrieved from LEARN.GENETICS:
http://learn.genetics.utah.edu/content/disorders/
Girod, C. M. (2001). Down Syndrome. San Diego: Library of Congress.
Medicine, U. N. (2015, November 19). Genetic Disorders. Retrieved from U.S National Library
of Medicine: https://www.nlm.nih.gov/medlineplus/geneticdisorders.html
Miami, U. o. (2015). University of Miami. Retrieved from Single Gene Disorders:
http://hihg.med.miami.edu/thromboticstorm/genetics-overview/single-gene-disorders
NICHD. (2014, January 1). Down syndrome: Overview. Retrieved from NIH:
https://www.nichd.nih.gov/health/topics/down/Pages/default.aspx
Reference, G. H. (2013, October). Down syndrome. Retrieved from Genetics Home Refernce:
http://ghr.nlm.nih.gov/condition/down-syndrome