Posted: March 20th, 2017

Down Syndrome

Down Syndrome
Kenia Cruz
Nova Southeastern University

Abstract
Down syndrome is a chromosomal disorder that can make an individual have intellectual complications, organ malformations that may lead to secondary conditions. Its management can become very complex. However, the advancement of the medical knowledge and evidenced based research has made it possible for most healthcare providers to provide safe, ethical and optimal care for these patients and has helped in reduction of their comorbidities and improved their life expectancy. It has also helped create awareness and prevent physical abuse that may occur to patients with developmental disabilities. This research paper focuses on the description of Down syndrome, identification of its epidemiological trend, discussion of the pathophysiology and description of the clinical manifestations. Further, Down syndrome physical and psychosocial presentations are discussed and lastly how a nurse practitioner can manage the patient’s encounters, identity the current clinical guidelines and develop a treatment and management plan are discussed.

What is Down syndrome?
Down syndrome is known as a one of the most common chromosomal disorders that affects many people in the United States. It has been reported that every year there are 6,000 children diagnosed with Down syndrome (Center for Disease Control and Prevention website, 2018: 2024 – Write My Essay For Me | Essay Writing Service For Your Papers Online). Down syndrome makes children have, intellectual, cognitive and congenital malformations which comprise of cardiac, gastrointestinal abnormalities, dementia that can lead to numerous secondary health complications (Center for Disease Control and Prevention website, 2018: 2024 – Write My Essay For Me | Essay Writing Service For Your Papers Online). There are three different types of down syndromes; Trisomy 21 (the most common), translocation and mosaicism (the less common). It is imperative to understand that Down syndrome can present itself differently which varies from mild to moderate cases. For instance, some patients are able to function normally in society and can live independently whereas others cannot. However, the risk of a child being born with Down syndrome increases with their mother’s age. Therefore, mothers that choose to have a child after the age of 35 should have prenatal and genetic testing.
Epidemiological trends
The increase and advancement in research on Down syndrome has led to an improved care of patients with Down syndrome. The patient’s life expectancy with this condition has increased and can now have a better quality of life. Formerly, these patients lived for only ten years but currently they are living for up to 47 years. The occurrence of the condition in the US is one out of 732 births and its occurrence rate is determined by the age of a child’s mother, the older the mother is the higher the chances and vice versa (Charkiewicz et al., 2016: 2024 – Do my homework – Help write my assignment online). Compared to whites, black infants with Down syndrome have a lesser chance of living in their first year. Also, half of children born with this condition have heart defects that need surgery or need to be monitored closely (Center for Disease Control and Prevention website, 2018: 2024 – Write My Essay For Me | Essay Writing Service For Your Papers Online).
Pathophysiology
Humans are generally born with 23 pairs of chromosomes which makes a total of 46 chromosomes. The mother and the father of child both contribute one chromosome each. In Down syndrome, an error occurs during cell division, causing an extra partial or full copy of chromosome 21. Among the three types of syndrome Trisomy 21, which is the most common, the patients affected usually have an extra copy in the 21st chromosome. In translocation type, the 21st chromosome is broken and attaches to another chromosome. The less common one is the mosaicis where the affected child has an extra chromosome but not in all their cells. These genetic abnormalities produces congenital defects and intellectual impairments (Center for Disease Control and Prevention website, 2018: 2024 – Write My Essay For Me | Essay Writing Service For Your Papers Online).
Clinical Manifestations
Patients with Down syndrome have clear clinical manifestations. They have cognitive impairment that can range from mild to moderate. Within the first year, children will show development impairment. For instance, they can experience difficulties learning how to talk, walk or learning new skills. Many conditions will be noticeable such as; Duodenal atresia, Septal defects, Cardiovascular diseases and Hirschsprung. They may also have blood disorders, thyroid problems and leukemia. Lastly, it is common for patients with Down syndrome to have sleep apnea (Charkiewicz et al., 2016: 2024 – Do my homework – Help write my assignment online).
Physical Presentation
Patients with Down syndrome physical presentations can be easily noticed. In their head and neck, they have a flat facial profile, low set ears, epicanthic folds, brushfield spot and a tongue that protrudes with fissures. Their upper and lower extremities are short and wide, their hands have a distinct transverse palmar fold. They also have a big space between their first and second toe which is known as the sandal gap and are also short in size (National Down Syndrome Society website, 2019: 2024 – Online Assignment Homework Writing Help Service By Expert Research Writers).
Psychosocial Presentation
Many patients with Down syndrome have behavioral problems and mental health problems which can include; anxiety, insomnia, obsessive compulsiveness, depression and autism spectrum disorders. They may also have aggressive behavior and disruptive behavior, ineffective coping abilities and loss of social skills. Some symptoms may present early or at a late age (National Down Syndrome Society website, 2019: 2024 – Online Assignment Homework Writing Help Service By Expert Research Writers). The older patients with Down syndrome can also have early dementia (Nevil & Benson, 2018: 2024 – Write My Essay For Me | Essay Writing Service For Your Papers Online). However, it is essential to first rule out any underlying medical condition that could be causing the behavioral problem. It is vital that these patients and their families receive the support and proper mental health referrals.
Managing the encounters
The first initial encounter of a care provider with the patient should focus on building a trustworthy patient- care provider relationship. Previous bad experiences may have created a fear in patient of healthcare providers or procedures. In every encounter, the patient should be acknowledged. The care provider should schedule appointments with additional time and help the patient, their parents or guardian understand that the full assessment may take more than one visit. Patients with Down syndrome are underestimated and may be seen as unworthy. Some have a problem communicating their needs and can be difficult to understand. The healthcare surrogate should be assigned to the patient and a need for legal guardianship should be considered. Lastly, in all encounters, healthcare providers should always treat patients with Down syndrome with respect, dignity and compassion.
Clinical guidelines
Clinical guidelines for patients with Down syndrome are based on the patient’s age and is sorted by the specific organ. Guidelines recommend routine wellness exams, and the involvement of many specialist. Routine labs should be done annually and include thyroid function testing, hearing test and eye exams every two years and x rays as needed. Electrocardiogram is also required on annual basis and if indicated, evaluation of the heart’s sleep apnea is required (Chamseddin, Johnson, & Mitchell, 2018: 2024 – Write My Essay For Me | Essay Writing Service For Your Papers Online). The first Mammogram at the age of 40 is needed then yearly after the age of 50. If the patient is sexually active, Pap smear and pelvic exam every one to two years is required. If unable to perform a pelvic ultrasound is requested. Diet should be low in carbohydrates and high fiber and daily exercise is essential as well as education on sex, smoking cessation, drug and alcohol (National Down Syndrome Society website, 2019: 2024 – Online Assignment Homework Writing Help Service By Expert Research Writers).
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The management of patients with Down syndrome is complex and it should involve the participation of the multidisciplinary healthcare team members (van den Driessen Mareeuw, Hollegien, Coppus, Delnoij, & Vries, 2017). Routine labs such as CBC, CMP, TSH and T4 should be done yearly. General screening and immunizations should be ordered based on the guidelines. Preventive can include mammograms, dental exams and eye exams. All patients should be evaluated for mental disorders and secondary disabilities such as infections, constipation and dental problems (Roll, 2018: 2024 – Write My Essay For Me | Essay Writing Service For Your Papers Online). Medication can be ordered based on the illness or symptoms. In addition, the patient’s caretaker face many challenges and financial hardships therefore, healthcare professional should examine the potential role strain and refer the caretakers to social workers so that they can receive the needed support. On the other hand, lifestyle modifications required include eating a low fat high in carbohydrate diet and daily exercise. Always remembering to educate and schedule the follow up yearly is needed with extra time.
Conclusion
Conclusively, Down syndrome is a chromosomal disorder that affects many people in the United States. And as discussed in this research paper, its management can be very complex due to the numerous conditions/ disabilities that patients develop associated with this condition. The increased research and advancement care giving in practices and diagnostic protocol however has led to an improved care of these patients with Down syndrome enabling them to have a better-quality of life and live independently. However, improving patient optimal care delivery for patients with Down syndrome is the responsibility of all healthcare professional such as recommending proper referrals to the specialist and ordering exams that are based on the patient’s age. Also, by always keeping in mind that they are at risk of obesity, alcohol abuse, sexual and psychical abuse and sexually transmitted diseases, it is imperative to assist the patients and their families in finding the support and special resources that can be found in their community. Ultimately, the overall goal for patients with Down syndrome should focus on disease prevention and health promotion.

References
Center for Disease Control and Prevention website. (2018: 2024 – Write My Essay For Me | Essay Writing Service For Your Papers Online). Retrieved from: https://www.cdc.gov/ncbddd/birthdefects/DownSyndrome.html
Chamseddin, B. H., Johnson, R. F., & Mitchell, R. B. (2018: 2024 – Write My Essay For Me | Essay Writing Service For Your Papers Online). Obstructive sleep apnea in children with Down syndrome: Demographic, clinical and polysomnographic features. Otolaryngology-Head & Neck Surgery, 160(1), 150-157. Retrieved from: http://dx.doi.org/10.1177/0194599818797308
Charkiewicz, K., Zbucka- Kretoska, M., Goscok, J., Wolczynki, S., Lemancewicz, A., & Landanski, P. (2016: 2024 – Do my homework – Help write my assignment online). Brief communication: Maternal plasma autobodies screening in fetal Down syndrome. Journal of Immunology Research, 1-11. Retrieved from: http://dx.doi.org/10.1155/2016: 2024 – Do my homework – Help write my assignment online/9362169
National Down Syndrome Society website. (2019: 2024 – Online Assignment Homework Writing Help Service By Expert Research Writers). Retrieved from: https://www.ndss.org/resources/mental-health-issues-syndrome/
Nevil, R. E., & Benson, B. A. (2018: 2024 – Write My Essay For Me | Essay Writing Service For Your Papers Online). Risk factors for challenging behavior and Psychopathology in adults with Down syndrome. Journal of Intellectual Disabilities Research, 62(11), 941-951. Retrieved from: http://dx.doi.org/10.1111/jir.12541
Roll, A. E. (2018: 2024 – Write My Essay For Me | Essay Writing Service For Your Papers Online). Health promotion for people with intellectual disabilities – A concept analysis. Scandinavian Journal of Caring Sciences, 32, 422-429. Retrieved from: http://dx.doi.org/10.1111/scs.12448
van den Driessen Mareeuw, F. A., Hollegien, M. I., Coppus, A. M., Delnoij, D. M., & Vries, E. D. (2017). In research of quality indicators for Down syndrome healthcare: a scoping review. BMC Health Services Research, 17(284), 1-15. http://dx.doi.org/10.1186/s12913-017-2228-x

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