Down Syndrome

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Down Syndrome

Introduction

Down syndrome is a chromosomal ailment that affects an individual through the presence of an additional chromosome 21. Normally, all human cells comprise of twenty-three chromosomes that are fitted with one’s genetic matter, responsible for maturity and handling of body processes. During conception, the sperm and ovum each donates twenty-three chromosomes to the fertilized egg for the creation of the pairs. In the occurrence of Down syndrome, an additional chromosome 21, either from the sperm or ovum, is passed along during the fertilization procedure thus causing an imbalance in the chromosomes (Cohen, Lynn, & Myra, 2002). A majority of instances have determined that the additional chromosome is acquired from the ovum that donates two chromosomes 21 that combines with a single chromosome 21 from the sperm. After fertilization therefore, the affected individual bears a three-stranded chromosome 21 commonly termed as trisomy 21.

Discussion

Presently, research has indicated that only one out of every 733 newborns is affected by the condition. In actuality, the syndrome is highly noted within the aged populace as opposed to young individuals, which is attributable to enhanced levels of mutagenic processes within the reproduction cells of mature individuals. Specific statistics have also indicated that 95 percent of the affected persons have the additional chromosome 21 fully duplicated within the body cells. Additionally, at least 3 percent only have a few genetic chromosome 21 replications fixated on a different chromosome, especially chromosome 14 (Wright, 2010). This second occurrence is referred to as a translocation. Note that such replications may be relayed to a child in instances where one of the parents acts as a carrier thus donating the same genetic material during fertilization. Another variation of Down syndrome occurs in at least 2 percent of individuals, who have inconsistent translocations such that only a few cells bear the extra genes while the rest remain unaltered. This is referred to as Mosaic Down syndrome.

Various factors are employed in the identification of Down syndrome. Mental indicators present in all affected individuals include psychological retardation. Individuals detected with Down syndrome majorly exhibit a mild form of intelligence noted by IQ measures of 50-70, while those with a critical form of the ailment evidence moderate intelligence with IQ measures of 35-50 (Wright, 2010). Physical indicators beginning with the face include an undersized chin occurring in seventy percent of the affected populace, and oblique-shaped eye spaces bearing many folds on corners near the nose. This symptom has been noted in seventy-five percent of the affected populace. The nose tends to have a flattened shape in 60 percent of all noted instances. The mouth has a reduced cavity that is inadequate for housing the tongue (Wright, 2010). This makes individuals with Down syndrome to have an overhanging tongue in 43 percent of all instances. The tongue condition is also caused by a bulge located in the region lying closely to the tonsils.

In 35 percent of individuals, the eyes tend to have white marks on the iris. 60 percent of all individuals have petite teeth and lowly hanging ear lobes that are largely rounded at the bottom. Due to all these indicators, the whole face generally tends to acquire a flat and widened shape due to a stumpy neck that is present in half of the affected populace (Wright, 2010). Body muscles appear shaky due to inadequate tones in 80 prevent of the situations, and when coupled with abnormal joint slackness, the body always appears unstable. Additionally, lumbar muscles often appear as separated. Half of the cases note stumpy hands and fingers with the fingerprints noted as having different patterns across all fingers. In addition, the hands tend to have a uniform crease while the leg digits have an extremely large space occurring between the large digit and the second one. In 75 percent of the cases, affected individuals have diminished sexual organs (Wright, 2010). Conclusively, with the diverse physical symptoms noted, individuals with Down syndrome all evidence an abnormal form of physical development.

The variations in terms of the noted percentages are attributable to severity of the ailment. Other than the given indicators, laboratory processes can be utilized for the ailment’s detection. The first approach is the screening examination that comprises of biochemical assessment and an ultrasound scan (Rondal, 2007). Various methods are available for the biochemical approach such as the triple and quadruple tests that involve drawing of blood from an expectant female within the pregnancy duration of fifteen and eighteen weeks. The blood is used for disease detection and assessment. The ultra sound scan on the other hand has five approaches that assess the nuchal translucency or nasal appendages for the ailment. The second examination is referred to as the diagnostic approach that employs various methods that use injections or outer tubules to assess the ailment (Rondal, 2007). Note that diagnostic approaches are superior to biochemical ones as the latter enhance complication likelihoods in the pregnancy through instances like miscarriages.

Treatments identified for Down syndrome are not for curative purposes but rather for a better handling of the condition since the syndrome is permanent. Individuals with the syndrome are highly prone to other ailments like heart conditions, thyroid problems, unprecedented seizures, muscle and joint conditions, leukemia, eyesight problems and hearing issues (Rondal, 2007). In handling these, assorted medications need to be employed for the specific conditions. For instance, individuals faced with thyroid problems require the replacement hormones for the condition. Critical conditions like cardiac and intestinal conditions necessitate corrective surgeries.

Conclusion

In conclusion, various medical experts need to be incorporated within the maturity phase of an individual in a bid to offer repeated checks on the individual for effectual ailment management. Cognitive therapy is also applicable for correcting issues like muscular and vocal control. For schooling individuals, intervention programs for expert handling are good supportive tools within the learning setting (Rondal, 2007).

References

Cohen, W. I., Lynn, N., & Myra, E. M. (2002). Down syndrome: visions for the 21st century. Hoboken, NJ: John Wiley and Sons.

Rondal, J. (2007). Therapies and Rehabilitation in Down Syndrome. Hoboken, NJ: John Wiley and Sons.

Wright, D. (2010). Down’s Syndrome: The Biography. Oxford, UK: OxfordUniversity Press.