Discussion essay

Running Head: EVALUATING RISK FOR DISEASE 1

PART EVALUATING RISK FOR DISEASE 4

Dear Marylyn,

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Overall, it appears that you have met ALL of the requirements. The disease analysis paper content looks good. I would recommend that you make some minor edits to your title page. To be completely APA compliant you need to give the paper a title, and you should list which Unit on the cover page immediately after the name of the course. I only added one comment regarding the “discussion with family members.” Make sure you have some information the directly describes the family member discussion. Right now that seems inferred rather than direct. The content looks good, the in-text citations look good and I do like the subtopic headers in the paper.

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Evaluating Risk for Disease

By

Marilyn Tangonan

SC235 General Biology I - Human Perspectives

Professor

Dr. Margaret Kincaid

March 28, 2019

Evaluating Risk for Disease

According to Cohen, Nadel & Madnick, (2003), genetic disorders are mostly caused by genes mutations in one gene known as a monogenic disorder. Genetic disorders can result from multifactorial inheritance disorders and a combination of the environmental factors and the gene mutations or damage of chromosomes. I chose the Down syndrome (Ds) disorder since it is currently on the rise globally by 30% from the previous statistics. Down syndrome is a chromosomal disorder resulting when there is an error in the division of cells leading to an extra 21st chromosome (Horvath, Garagnani, Bacalini, Pirazzini, Salvioli, Gentilini & Franceschi, 2015). This condition qualifies to be a genetic disorder since it exhibits effects on the cognitive abilities, physical growth, mild and moderated disability in development posing high health risks. This condition is also identifiable before and after birth.

Signs and Symptoms

According to Horvath, Garagnani et al. (2015), Down syndrome is among the fondest chromosomal abnormalities among human. The condition occurs in one per 1000 babies annually. Some of the signs and symptoms occur in the heart, endocrine, teeth, gastrointestinal senses, and physical parts of the human. People with Down syndrome exhibit physical characteristics of small chin, poor muscle toning, slanted eyes single palm increase, nasal bridge and protrusion of the tongue due to the small size of the mouth relative to the tongue (large). The 20% occurrence of the atlantoaxial joint among these victims results in an injury of the spinal cord. Consequently, another physical sign would be the dislocations of the hip.

Neurological

The Down syndrome leads to one-third of the cases of intellectual disability. A child with Down syndrome will have delayed development in terms of crawling at 18 months rather than 5 and walking at 21 months instead of 14 months (Lopez, Morales Mezquita, & Moreno. 2017). The individuals affected by the syndrome always exhibit a mild or moderate intellectual disability of (IQ 50-59) and (IQ 35-50) respectively.

Senses

More than half the people with Ds experience hearing, and vision disorders. Vision disorders occur in 38- 80% where 20-50% exhibit strabismus, where the eyes do not uniformly. 15% also exhibit cataracts with many noticeable at birth. In addition, other common signs include Brushfield spots, glaucoma, keratoconus, and otitis media effusion. Individuals with DS exhibit susceptible gingivitis besides an early sever periodontal condition. Consequently, these individuals may also exhibit signs of ulcerative gingivitis, tooth loss at an early stage (the front teeth) and wanting oral hygiene. In addition, another condition like Bruxism (high tooth wear rate) is common.

Mode of Inheritance

A mistake in the cell division during the early stages of fetus development results in Down syndrome. According to Morales & Ramirez (2013), a translocation Ds is inheritable from parents to a child despite about 3-4% exhibiting traits of the translocation Ds. Individuals with the translocation Ds can inherit the syndrome from their unaffected parents since they carry the rearrangement of the genetic mater between the 21st chromosome and another independent chromosome. The chromosomal rearrangement referred as balanced translocation is where there is no genetic mater loss or gain in the balanced translocation. Consequently, the changes do not lead to health complications. The translocation is passed from one generation to the next. Individuals who inherit this unbalanced translocation entailing 21st chromosome may exhibit extra chromosome 21 material that causes Down syndrome. However, most cases of Down syndrome are not due to inheritance since it results from trisomy 21 (chromosomal abnormality).

Useful information on Down syndrome

For individuals diagnosed with the Down syndrome, understand the only remedy to their condition if through medication and proper management since it all starts with acceptance. An individual diagnosed with Ds would first know the various copies of the chromosome (Morales & Ramirez, 2013). First, there are 2 copies of every chromosome and in Ds, there are 3 copies of chromosome 2, either partial or completer. The individual should also understand the signs and symptoms of Ds that range from flatness of the nasal bridge, protruding tongue, and short stature.

To family members at risk of developing the disease, since it is not inherited, I would recommend for health screening that will detect any possible risks. The most vulnerable group is the expectant mother. Thus, there are recommended guidelines offered to the patients irrespective of the ages. Other options could be testing of the blood to measure the risks of Down syndrome during the 1st and 2nd trimester and finally ultrasound for pregnant mothers. They should also find out the type of Ds discovered since most cases of Down syndrome are not hereditary. Comment by Todd Parker: The rubric states “provides best approach to discuss with family members. I would make sure to include this as direct information. What you have here is more inferred.

Purdue Global Library Search

When searching for the traits of the disease, I used the general work Down syndrome as a combination of my search terms that brought many online documents on the disease. The advanced search enabled me able to search for the exact word game. I had an easy time since it brought a dropdown list of the articles on my topic. Surprisingly, I realized there is a significant difference between the PG library search and the google search engine. The major difference is the specification-based search. The PG library allows users to customize their search and narrow down to specific topics, titles, and names. On the other hand, google avails all the possible web pages, articles, and journals that have the name of the search. This makes work harder compared to the PG library search. Therefore, for academic purposes, I would prefer the PG library search engine since it saves time and gives the user options of customizing the search for relevant documents.

For instance, the books by Cohen (2003) and Morale et al. (2013) support my discussion on Down syndrome since the analyze and deeply explain the signs, symptoms, importance for management and treatment as disused above. In addition, the two books support my conclusion on the inheritance of Ds.

Reference

Cohen, W. I., Nadel, L., & Madnick, M. E. (Eds.). (2003). Down syndrome: visions for the 21st century. John Wiley & Sons. 

Horvath, S., Garagnani, P., Bacalini, M. G., Pirazzini, C., Salvioli, S., Gentilini, D., ... & Franceschi, C. (2015). Accelerated epigenetic aging in Down syndrome. Aging cell, 14(3), 491-495.

Lopez-Ramirez, E. O., Morales-Martinez, G. E., Mezquita-Hoyos, Y. N., & Moreno, D. V. (2017). Down Syndrome Cognitive Constraints to Recognize Negative Emotion Face Information: Eye Tracking Correlates. Psychology, 8(09), 1403.

Morales, G. E., & Ramírez, E. O. L. (2013). Down syndrome, beyond the intellectual disability: persons with their own emotional world. Nova Biomedical.