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Essay: Down Syndrome: Introduction, Causes, and Characteristics

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 Kassidy Battiste

December 5th, 2018

Adapted Physical Exercise and Sport

Down Syndrome

Table of Contents

Introduction

The primary reason I selected this topic for my research paper is because Down syndrome interests me in numerous ways. I have always acquired an interest to expand my knowledge on this disorder. Growing up, throughout high school and even now college, I was always involved with activities and programs that work with children/adults that have disabilities of all kinds. However, I have always found that working with children and adults with Down syndrome sparked my interest the most. Being around people with this disorder has always made me want to learn more, and even one day study/conduct research about it. Another reason I chose this topic was because it has sentimental and personal meaning to me. My two-year-old cousin was diagnosed with down syndrome before he was even born. I have always been so interested to find out why disorder like this exist and how it is going to affect him throughout his life. This was the perfect opportunity to find out more about the disorder in general, and for my own personal reasons.

Definition of the specific disability

“Down syndrome is the most recognizable genetic condition associated with intellectual disabilities” (Winnick & Poretta, 2017). Down syndrome is a common birth defect that is usually due to an extra chromosome 21. This disorder can lead to many other problems that are health-related including mental retardation, physical characteristics, malformations and other linked health issues.  

Updated prevalence of disability

Studies have been conducted to show that approximately “400,000 Americans have Down syndrome, and about 6,000 babies with Down syndrome are born each year” (Winnick & Poretta, 2017). This disability can occur among person of any race or economic class. However, according to Winnick and Poretta, older women have an increased risk of having a child with Down syndrome. At age 40, the risk increases to 1 in 100 births and at the age of 45 the risk is 1 in 30 births. “The likelihood of having a second child with Down syndrome after a woman has given birth to a baby with trisomy 21 is 1 in 100 up until the age of 40 (National Down Syndrome Society, 2014). Statistics can also prove that other medical conditions are more likely proven to affect persons with Down syndrome. For example, people with Down syndrome are “10 to 15 times more likely to develop leukemia and 62% more likely to develop pneumonia”

Potential causes of the disability

The most common cause of Down syndrome “Prior to or at conception, a pair of 21st chromosomes in either the sperm or egg fails to separate. As the embryo develops, the extra chromosome is replicated in every cell of the body” (“What is down syndrome?”, 2018). Every cell in a person’s body contains genes. Cells contains nuclei, which contains genes that are grouped with chromosomes. The normal distribution amongst the chromosomes is twenty-three from the mother, and twenty-three from the father. “When some or all of a person’s cells have an extra full, or partial copy of chromosome 21, the result is down syndrome” (Crosta, 2017). According to many medical websites, the cause of the extra full or partial chromosome is still unknown. However, one thing has been proven to increase the risk of having a baby

with Down syndrome. “Maternal age is the only known factor that has been linked to an increased chance of having a baby with this disorder. Due to higher birth rates in younger women, 80% of children with Down syndrome are born to women under 35 years of age” (What is Down syndrome? 2018). I thought this was very interesting because this statistic can have many factors that play into it. It may not necessarily mean that people who birth children over the age of 35 are at no risk at all, and that under the age of 35, will be diagnosed. I personally feel that younger people who birth children aren’t as responsible and could be drinking or misusing drugs while pregnant which can cause this birth defect, leading to these statistics. According to the National Down syndrome society, “There is no definitive scientific research that indicates that Down syndrome is caused by environmental factors before or during the pregnancy”.

Characteristics of the disability

The thing that makes Down syndrome so unique is that each person can be affected differently, but they will share a substantially large number of physical characteristics and problems with development. Some people are affected with all of the characteristics, but not everyone. This disorder will often give the person distinct facial features such as a small nose and “flat nasal bridge”, a small mouth with a tongue that may stick out, and upward and outward slanted eyes. Other noticed characteristics can be ones that are seen throughout the body. One major one that can be seen in people with down syndrome is a crease across their palm. This crease is a single, transverse line that runs in the middle of the person’s palm. “A large space between large and second toe, low muscle tone and a single flexion furrow of the fifth finger” (Crosta, 2017). Unfortunately, Down syndrome increases the risk of a profuse amount of other medical problems and diseases. To name a few, these can include congenital heart defects, thyroid conditions, leukemia and Alzheimer’s disease. “Because of these medical conditions, life span tends to be 10 years less than that for the general population with intellectual disabilities” (Winnick & Poretta 2017).  Along with physical characteristics, people with down syndrome are affected in developmental ways as well.  

Motor Development/Motor Behavior/Motor Learning issues

People with Down syndrome experience many developmental delays as children growing up. The major milestones that regular children hit during their lifetime are setback as much as months or even years later than they regular time they are supposed to. “The reduced size of their cerebrum, brain maturation, and pathopsychological processes lead to motor developmental delay” (Malak, Kositukow, Wasielewska, Mojs & Samborski, 2015). Major milestones that children with DS will more than likely be delayed in can include sitting, crawling, walking, and talking. “Individuals with Down syndrome usually have cognitive development profiles that suggest mild to moderate intellectual disability. However, cognitive development and intellectual ability are highly variable” (Costa, 2017). People with People with Down syndrome also experience learning difficulties that lead to delays in many areas of development. However, not all areas of development are affected equally – there are particular patterns of learning difficulties. These patterns can inform more effective teaching approaches and therapies.

How the disability impacts participation in sport and physical activity

Hence the many medical conditions and problems that are tied to Down syndrome, children are required to have medical clearance for activity participation. “It is important that programming which directed towards facilitating motor skill development reflect quality practices.

Suggested modifications to use when prescribing physical activity

Some modifications may be necessary on standardized tests, but there are individuals with this disability who require limited support and can complete assessments with the rest of the population. This all just depends on how severs a person’s case may be. “Children with intellectual disabilities such as Down syndrome, whom need extensive or pervasive support often lack the physical fitness, motor ability, motivation, and understanding required to perform standardized test items”. There are two tests developed specifically or use with students with intellectual disabilities that are recommended. These include the Brockport Physical Fitness Test Second edition and the Special Olympics coaching guide, developed to measure gross motor development and motor and sport skills. (Winnick and Poretta, 2017). Individuals with Down syndrome also bear the risk of having a condition called “Atlantoaxial instability”. This condition is characterized by “excessive movement at the junction between atlas (C1) and axis (C2) as a result of a bony or ligamentous abnormality” (“Atlantoaxial Instability, 2018). Due to this, children with down syndrome who want to participate in sports should consider a cervical spine x-ray. If the distance between the first two cervical vertebrae is greater than 4.5 mm, the restriction on sports is advised. For cases of AAI that is severe enough, all strenuous activity, athletics, running, and weight lifting can cause a subluxation or “excessive slippage” that can cause injury to the spinal cord or dislocation of the atlantoaxial joint. (Atlantoaxial Instability & Down syndrome, n.d.).

Potential organizations designed to serve individuals with this specific disability

One organization that is designed to serve individuals with Down syndrome is the Paralympic games. This organization was formed in 2001 and has been inspiring Americans to chase their dreams and achieve them. This is made for people with many different types of disabilities including a spinal cord injury, amputee, intellectual impairment, etc. The target of the United States Olympic Committee is to “support U.S. Olympic and Paralympic athletes in achieving sustained competitive excellence while demonstrating the values of the Olympic movement, thereby inspiring all Americans” (About U.S. Paralympics, n.d.). For individuals with Down syndrome who want to compete in an intellectual impaired sport must meet the criteria. According to (Intellectual Impairment, n.d.), for a person with Down syndrome they must have an IQ at or below 75, significant limitations in adaptive behavior; and the disability onset before the age of 18.

Conclusion

Down syndrome is a very complex disorder with many different ways in can present itself in people. Two people can present this disability completely differently or be more functioning than the other. Researching this expanded my knowledge on what I learned from class as well. People with Down syndrome that want to participate in physical activity such as sports have to take many precautions. However, many organizations like the Paralympics offer ways for intellectually impaired people, like individuals with Down syndrome, participate in sports competitevly.  

Reference Page

About U.S. Paralympics | U.S. Paralympics | USOC. (n.d.). Retrieved from https://www.teamusa.org/us-paralympics/about

(Atlantoaxial Instability. (2018, November 21). Retrieved from https://emedicine.medscape.com/article/1265682-overview

Atlantoaxial Instability & Down Syndrome. (n.d.). Retrieved from https://www.ndss.org/resources/atlantoaxial-instability-syndrome/

Crosta, P. (2017, December 06). Down syndrome: Causes, symptoms, and diagnosis. Retrieved from https://www.medicalnewstoday.com/articles/145554.php

Development and learning for people with Down syndrome. (2018, June 27). Retrieved from https://www.down-syndrome.org/en-us/about-down-syndrome/development/

Intellectual Impairment: Paralympic Classification Interactive. (n.d.). Retrieved from https://www.teamusa.org/US-Paralympics/athlete-classifications/intellectual/

Malak, R., Kostiukow, A., Krawczyk-Wasielewska, A., Mojs, E., & Samborski, W. (2015). Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4500597/

What is Down Syndrome? | National Down Syndrome Society. (n.d.). Retrieved from https://www.ndss.org/about-down-syndrome/down-syndrome/

Winnick, Joseph. P. & Poretta, David. L. (2017) Adapted Physical Education and Sport. United States. Walsworth

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