Sample Nursing Paper on Down syndrome

Introduction

Down syndrome also known as Trisomy 21, is a genetic disorder resulting from extra chromosomes affecting the 21 chromosome. The complication can affect the rest or part of the chromosome involved (Weijerman & de Winter, 2010). The most prevalent indicator of the disorder is delayed physical growth as well as low intellectual level resulting from delayed mental development. As a result, the average intellectual quiescent for persons with Down syndrome is 50, which is way below the standard equivalent. The chromosomes are an important aspect in the growth and development of the baby from conception to birth since they facilitate the formation of the baby. For a normal baby, there are 46 chromosomes whereas for those born with Down syndrome there is an extra chromosome 21. The extra chromosome is responsible for the delayed physical and mental development of the child (CDC, 2020). Besides mild mental and physical development, the following are other physical indicators of Down syndrome; loose joints, short neck, small ears, flattened face, small feet and hands, shortness in height among others, generally, persons with Down syndrome tend to look alike but have different abilities and capabilities.

Despite the disorder being one of the common disabilities among newborns all over the world, there is a higher prevalence among women above 45 years (Morris, Mutton, & Alberman, 2002). Despite the disease having long-term effects on the affected persons, the individuals can live longer due to the available management strategies. Also, through screening programs, the disorder can be detected during prenatal stage of the pregnancy, genetic tests or through direct observation after birth. Additionally, there are three different categories of Down syndrome the medical practitioners are supposed to diagnose in order to provide the appropriate prescription. They are mosaic, translocation and trisomy 21 (CDC, 2020).

Trisomy 21: this is the most common type of Down syndrome affecting significant number of victims. Persons with Trisomy 21, have an extra chromosome 21 (3) form the normal number (2).

Translocation Down syndrome: this category occurs when the 21st chromosome attaches itself onto another chromosome during pregnancy. The attachment (translocation) may affected a part or the entire 21st chromosome.

Mosaic Down syndrome: this type is the least common characterized by a combination of extra cells in some but not all the chromosome 21. Since most of the chromosomes for persons with this condition have the required number of chromosomes, they tend to have less features compared to the other forms of the condition.

Despite the disease being common among newborns, it is important to note that the condition is predominant among older mothers. Advanced age is one of the greatest risk factors especially for women above the age of 35 years (Morris, Mutton, & Alberman, 2002). The risk is due to improper cell division during pregnancy resulting from older eggs produced by older women. However, Down syndrome is also prevalent among younger women due to their ability to conceive more children, allowing for recessive genes from carrier parents to manifest. Besides old age, another risk factor for the condition is genetic translocation among the parents. Genetic translocation among the parents implies that the parents (both male and female) may be carriers for the condition and therefore, have the ability to pass it down to their offspring. The risk is even greater for parents who have an existing child with the condition (Clinic, 2020).

 

As already highlighted, down syndrome patients have varied physical and mental development which hinder proper growth and development. However, as the victims get older, they tend to develop certain health complications resulting to short lifespans, namely; immune disorder, heart conditions, spinal conditions, leukemia, obesity, dementia as well as gastro-internal complications. Due to the varied health complications associated with the disorder, life expectancy for persons with Down syndrome was below the age of 10 years. However, the expectancy has improved over the years due to the improved medical advances concerning the condition. Therefore, it is important for care givers for persons with Down syndrome to have close interactions with medical practitioners specialized in this area to ensure they live a happy and prosperous life (Team, 2019).

Due to technological advancement in medicine, early detection of the condition is possible through screening and diagnostic tests carried on women of all ages. The screening tests indicate the likelihood of the baby having Down syndrome but with no exact result whereas the diagnostic tests clearly and accurately indicate whether or not the child has the condition. However, it is important for the health care provider to discuss the types of tests available, merits, demerits, risks and explanation of the results to the pregnant mother before undertaking the tests (Clinic, 2020). Screening tests are usually carried out during pregnancies as part of the prenatal care for pregnant mothers. Although the tests are not accurate, they provide pregnant mothers with the opportunity to choose their preferred diagnostic tests. The tests are divided into two categories, namely; first trimester combined test and the integrated screening tests. The first trimester combined test is conducted under two steps which are; blood test and nuchal translucency test. For blood test, the focus is on the plasma protein-A levels and human chorionic gonadotropin hormone levels. An imbalance in the levels indicates complications with the pregnancy (Clinic, 2020). Nuchal translucency test, is conducted with the help of an ultrasound with the focus being around the child’s neck. High levels of fluids around the area indicates an abnormality. Integrated screening test, on the other hand, is conducted during the first and the second trimesters of the pregnancy (Crosta, 2017). A combination of the results indicates the risk of the child contracting the disorder. The first trimester tests combines the blood test and the nuchal translucency test, whereas the second trimester measures the blood level of four different substances, namely; inhibin A, estriol, alpha fetoptotein and HCG (Clinic, 2020).

Presented as the most accurate test, diagnostic tests can either be carried out during the pregnancy or after birth. The tests are usually presented as follow-up tests to the screening tests. There are two different diagnostic tests including; amniocentesis and chorionic villus sampling (CVS) (Clinic, 2020). CVS is carried out during the first trimester where fetal chromosomes are analyzed using placenta fluids extracted from the mother. Amniocentesis, on the other hand, is carried out during the second trimester where the fetal chromosomes are analyzed for any abnormalities. Diagnostic tests carried out after birth greatly depend on observation of the child’s physical appearance. However, accuracy of the test is ensure through chromosomal karyotype test since some of the physical appearance may be found on children without the condition (Clinic, 2020).

 

 

 

There is no recognized treatment for Down syndrome but only management measures aimed at improving the functionality of the affected person. Early intervention is an important aspect in managing the condition through specific activities geared towards improving their intellectual and physical wellbeing while focusing on their individual capabilities. Therapy is one of the measure implemented with specific therapies including speech, occupational and physical therapy (CDC, 2020). Also, care givers are supposed to provide the victims extra care and work closely with the medical practitioners to ensure management of underlying conditions.

 

Conclusion

Down syndrome is a chromosomal condition affecting the arrangement of chromosomes in an unborn child. The complication affects the growth and development of the child leading to mild and severe delayed physical and mental development. The prevalence of the condition is among older women due to improper cell division as well as carrier parents. There are three known categories of Down syndrome; mosaic, translocation and Trisomy 21. Screening and diagnostic tests are carried out to indicate the prevalence of the condition with diagnostic being more accurate. However, there is no specific treatment of the condition other than extra care of the victims to ensure they realize their full potential.

 

 

Reference

CDC. (2020). Facts about Down Syndrome. CDC. Retrieved from: https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html

Clinic, M. (2020). Down syndrome. Mayo Clinic. Retrieved from: https://www.mayoclinic.org/diseases-conditions/down-syndrome/symptoms-causes/syc-20355977

Morris, J., Mutton, D., & Alberman, E. (2002). Revised estimates of the maternal age specific live birth prevalence of Down’s syndrome. Journal of Medical Screening, 2–6.

Team, H. E. (2019). Down Syndrome. Healthline. Retrieved from: https://www.healthline.com/health/down-syndrome#statistics-and-considerations

Weijerman, M., & de Winter, J. (2010). Clinical practice. The care of children with Down syndrome. European Journal of Pediatrics, 1445–52.

Crosta, P. (2017). What to know about Down syndrome. MedicalNewsToday. Retrieved from: https://www.medicalnewstoday.com/articles/145554