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Down Syndrome: A Case Study: Part 1

DNP-810A Emerging Areas of Human Health

Marian Alli

Grand Canyon University

April 5, 2022.









Down Syndrome


Down syndrome is a common genetic disease that affects the normal functioning of the bodily systems due to the addition of the complete or partial chromosome 21 copy. When this happens, children are born with this extra chromosome that eventually changes the development of their brain and body, and how they function. What happens is that the excess genetic material results in delays in the development of both mental and physical traits.

Incidences and Prevalence

Down syndrome affects each person differently. The effects of Down Syndrome can vary greatly, ranging from mild to severe intellectual and developmental abilities. While certain individuals find themselves healthy, others suffer from major health problems that include heart defects. Down syndrome has distinct effects on children and adults (Lanfranchi, 2019). Though not all people with Down syndrome disease share the same characteristics, they are some traits that are quite common among most patients. They include:

· Flattened face

· A child’s small head

· A thin neck

· Tongue protrusion

· Palpebral fissures

· A child’s ears that are strangely shaped or small

· Muscle tone deficiency

Down syndrome babies may have a hard time adjusting to their new environment. They are of ordinary size, although they tend to grow slowly and stay shorter than other children their age. Most children with Down syndrome have mild to moderate cognitive disabilities. This affects their overall mental capacity as well as their ability to synthesize short and long-term memories. You will even find that the phonological awareness and language development of children with Down Syndrome is delayed, and slower than other kids their age (Hussain, Moiz, Aqeel, & Zaidi, 2017).

When should you see a Doctor?

Down syndrome is commonly detected at or before delivery in children. It is highly recommended for pregnant women to talk to their doctors if they have any concerns about their pregnancies or their child’s growth and development.

Laboratory Tests Available

There are primarily two types of tests that can be administered to determine if an individual has Down syndrome. The first test considers prenatal care, where expectant mothers can or may be able to test or be tested during the early and mid-stages of their pregnancy. The other types of tests are diagnostic tests, that can be administered after an individual has reached maturity. While on an internship at a local healthcare center, I noticed that screening tests happen sequentially during the first and second trimesters.

Screening Tests

First off, it is prudent to argue that screening tests are very effective at telling whether a newborn will have Down syndrome. The parent can know from an early age, the condition of the child. The parent can take the necessary steps toward handling the disease. Nonetheless, screening tests are not 100% correct. Yet, there is no reason for pregnant mothers not to take the tests since the tests are harmless and there is no risk of miscarriage.

On the one hand, the first phase happens during the first trimester between 10 and 14 weeks of pregnancy. Blood samples from the mother are collected and tested to determine the amount of fluid that may be around the baby’s neck.

Meanwhile, the second phase happens during the second trimester between 15 and 20 weeks of pregnancy. A similar blood test is conducted, and the results are compared to those of the first test. The comparison informs experts on whether the fetus has Down syndrome or any other categorical genetic disorders.

Diagnostic Tests

3 primary types of diagnostic tests can be performed on either developing babies or adults to test for Down Syndrome:

· Amniocentesis

· Chorionic Villus Sampling (CVS)

· Ultrasound

FDA regulations and introduction of new pharmaceutical agents

Using its fast approval pathway, the FDA approved the use of aducanumab [trade name: Aduhelm] to treat people with Alzheimer’s disease on June 7, 2021. The FDA limited the indication on July 8, 2021, to match those who were enrolled in research studies, specifically those with a diagnosis of Mild Cognitive Impairment (MCI) or Mild AD dementia (Rosenbaum, 2017). Furthermore, the medicine, according to the information provided about it, “Aduhelm is an amyloid-beta-targeting antibody. The antibody binds to amyloid-beta clumps predominantly. This is the case because it targets an epitope that isn’t normally accessible in the amyloid-beta monomer. As a result of this interaction, Aduhelm may be able to lower the number of amyloid plaques in the brain, minimizing neurodegeneration and disease development.”

Despite the National Institute of Health’s acknowledgment of Down syndrome as a major risk factor for Alzheimer’s disease, no persons with Down syndrome (or any other intellectual handicap) were included in Biogen’s initial clinical studies. As a result, the topic of whether aducanumab can aid people with Down syndrome and other forms of intellectual disability has been raised. Questions have also been raised about the realities and logistics of the situation.

The Role of Money and Grants in Scientific Advances

In the United States, funding for scientific research has become more difficult to come by, particularly for discovery-based science, which necessitates the analysis of enormous data sets to detect patterns and correlations. New theories are created, and orthodoxy is debunked by this analysis, especially in the ‘omics’ era of science (Okagaki and Dean, 2016). Scientists have changed the types of experiments they propose as a result of the funding conflict. Proposals that are focused on fixing problems, such as novel targets to avoid pathogen infection, or that may probably be successful in the short term, are the most popular among grant panels. Although it’s fair that award committees want to make sure that the money spent on initiatives has immediate outcomes, the targeting of programs is a different story.

Role of Family in Healthcare Decisions

Through these roles, patients appreciate the value of family life in medical decision-making, and families actively promote patient autonomy. Nonmedical obligations related to family roles and relationships are as important as, if not more important than, medical loads. Family is a morally significant player in medical decision-making and should be treated as such.

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