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Nova Southeastern University Pathophysiology of Down Syndrome Discussion

Nova Southeastern University Pathophysiology of Down Syndrome Discussion

Question Description

I’m working on a health & medical discussion question and need an explanation to help me learn.



Pathophysiology of Down syndrome:

Down syndrome is a genetic disorder, formally know as Mongolism or trisomy 21 in which a third chromosome 21 is present, it is also the most common chromosome abnormality in humans (Akhtar, F., & Bokhari, S. A.,2020). This genetic disorder is seen in 1 in 800 live births, and individuals with this disorder often times have an IQ between 25- 70 (Most people have an IQ from 85-110) (McCance, K. L., & Huether, S. E., 2019). Presence of this partial chromosome results as a cell division of chromosome 21, and can also be a full chromosome 21 (Down syndrome, 2018). The extra chromosome occurs due to failure of chromosome 21 separating during gametogenesis (Akhtar, F., & Bokhari, S. A.,2020). This extra chromosome results in development, behavior and physical changes in the individual. The severity varies for this disorder and can also be determined with several factors such as early therapy in order to assist with learning disabilities. According to McCance & Huether (2019), by the age of 40 individuals with Down syndrome start showing symptoms similar to those of Alzheimer patients because the gene causing Alzheimers disease is located on chromosome 21.

Some common signs and physical attributes of individuals with Down syndrome are distinctive facial appearance such as low nasal bridge, epicanthal folds, protruding tongue, and flat low set ears (McCance, K. L., & Huether, S. E., 2019). These individuals often times have poor muscle tone and short stature. The risk factors for the inheritance of down syndrome increases with the maternal age, women younger that 30 have a risk of 1 in 1000 births, the risk rises after 35 years of age and even higher after the age of 45 (McCance, K. L., & Huether, S. E., 2019). Additionally, being a carrier for the genetic translocation of Down syndrome can be passed down to children (Down syndrome, 2018). Another risk factor is having an existing child with Down syndrome, in this case a genetic counselor can help parents assess for the risk of having another child with Down syndrome (Down syndrome, 2018).

With the existing scenario, the ethical implications are finding out the reason for prescribing the birth control. If it is for contraceptive reasons and not hormonal concerns then we must talk to the patient themselves. being that they have cognitive delays making sure it is consensual sex would be important.


Akhtar, F., & Bokhari, S. A. (2020). Down syndrome. Retrieved from (Links to an external site.)

Down syndrome. (2018). Retrieved from (Links to an external site.)

McCance, K. L., & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children. St. Louis, MO: Elsevier.


Down syndrome is defined as a genetic disorder that is caused by abnormal cell division that results in an extra full or partial copy of chromosome 21. This syndrome is the best example of aneuploidy, which is the occurrence of one or more extra or missing chromosomes that leads to an unbalanced amount of chromosomes. Some common signs and physical attributes of patients with Down Syndrome include, protruding tongues, low nasal bridge, epicanthal folds, flattened face, small head, short neck, and poor muscle tone (Down Syndrome, 2018). Most individuals with Down Syndrome tend to experience mild to moderate cognitive impairment. Pathological risk factors for the inheritance of down syndrome include an increase in maternal age, as well as if the parents are a carrier of the genetic translocation for down syndrome, another risk is if you already have a child with down syndrome. Since there is higher fertility rates in younger women, the chances of having a child with Down Syndrome increases with age of the mother and more than 80% of children with Down Syndrome are born to women under the age of 35 (Kazemi, 2019).

For this patient it is important that she understands the concept of sex and birth control. Although she is high functioning she needs to be aware of all aspects of birth control including the side effects and risks. While she is being accompanied by her mother, she is still considered to be underage. Effective and safe contraception for young adults under 16 years of age is considered to be an overall campaign to reduce teenage pregnancy (Brierley & Larcher, 2019). The patient must be with her mother to discuss subject matters like sex and birth control. It is important as a medical professional to explain this to both the patient and her mother so they can have a better understanding.


Brierley, J., & Larcher, V. (2014). Clinical trials of contraceptive agents in those under 16 years of age: are they necessary, ethical or legal?. Archives of disease in childhood, 99(12), 1070–1073.

Down syndrome. (2018). Retrieved from (Links to an external site.)

Kazemi, M. (2019). Down Syndrome: Current Status, Challenges and Future Perspectives. International journal of molecular and cellular medicine, 5(3), 125–133.


Describe briefly in one paragraph what is the pathophysiology of Down syndrome.

The pathophysiology of down syndrome results from aneuploidy in an autosome. Aneuploid cells do not contain a multiple of 23 chromosomes and those that contain three copies of one chromosome (as in Down Syndrome) are said to be trisonic. Aneuploidy is the result of nondisjunction. Nondisjunction is an error where homologous chromosomes or sister chromatids fail to separate normally during the cell cycle, specifically in meiosis or mitosis; this produces some gametes that have two copies and others that have none of the chromosome (McCance & Huether, 2019). The majority of cases involve maternal nondisjunction. Down Syndrome is the most popular aneuploidy in an autosome and occurs on the twenty-first chromosome (McCance & Huether, 2019).

Identify the common signs and physical attributes of patients with Down Syndrome.

Common signs and physical attributes of patients with Down Syndrome include an intelligence quotient between 25 and 70, low nasal bridge, epicanthal folds, protruding tongue, and low-set ears (McCance & Huether, 2019). Also seen in these individuals are hypotonia, short stature, congenital heart defects and reduced abilities to fight respiratory tract infections (McCance & Huether, 2019).

Evaluate the three pathological risk factors for the inheritance of Down Syndrome.

Approximately 97% of Down Syndrome cases are caused by nondisjunction during the formation of one of the parent’s gametes (the mother’s egg cell in 90-95% of cases) during early embryonic development; the remaining 3% are due to translocations (McCance & Huether, 2019). Of all the individuals with Down Syndrome, 1% to 3% are referred to as mosaics; these persons have a large number of normal cells and the trisomic cells are attenuated, making characteristic symptoms less severe (McCance & Huether, 2019).

What are the ethical implications of this scenario?

Ethical values are essential for anyone in the field of healthcare, and should be followed strictly under normal circumstances. In the scenario provided we have a high-functioning 15-year-old female who was brought to the clinic by her mother for contraception. An ethical issue that may arise in this situation involves the ethical principle of autonomy. Autonomy entails each patient having the right to make their own decisions based on their own beliefs and values (Ubel et al., 2018). Under normal circumstances that do not involve an individual with cognitive impairment, a person has the right to refuse medications, treatment, surgery, or other medical interventions regardless of benefit, and the healthcare providers must respect these decisions (Ubel et al., 2018).

In the situation we are presented, the child is cognitively impaired, and diagnosed with Down Syndrome, albeit a ‘high-functioning’ child. In this scenario the patient themselves is unable to make informed decisions about their care due to being cognitively impaired. Clinicians frequently rely on surrogate decision-makers when the decision-making capacity of the patient is hampered, marginal, or nonexistent (Piña‐Escudero et al., 2019).

In this scenario the child is 15 years of age and therefore the mother is her guardian at this time, regardless of the patient’s degree of cognitive impairment. The mother is able to decide on the patient’s plan of care as long as the decisions being made are not medically negligent. This is seen on a regular basis in bedside nursing when parents of a child choose to withhold certain procedures (blood draw, spinal tap, etc.) due to preference. Ethical concerns based on rationale behind the mother’s necessity to have the patient on birth control should be explored. A clear understanding of the reason’s behind the request should be had before making a decision in order to ensure it is a warranted activity. It is imperative we also keep in mind the rates of physical, mental, and sexual abuse that occur in this population. If the mother’s interests seem to be in line with the child’s best interests, the option of contraception may be explored further.


McCance, K. L., & Huether, S.E. (2019). Pathophysiology: The biologic basis for disease in adults and children (8th ed.). Mosby Elsevier.

Piña-Escudero, S. D., García-Avilés, R. J., Fajardo-Juárez, A. I., López, C. U., Moral-Trejo, A., Ramírez-Ambriz, P. M., Tovar-Serrano, A., & Antonio, G. (2019). Factors associated with surrogate self-efficacy in decision-making for patients with end-stage renal disease. Indian Journal of Palliative Care, 25(1), 3–8. (Links to an external site.)

Ubel, P. A., Scherr, K. A., & Fagerlin, A. (2018). Autonomy: What’s shared decision making have to do with it?. The American Journal of Bioethics: AJOB, 18(2), W11–W12.

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