Down Syndrome: Causes, Effects and Diagnosis

An individual can possess added inherited material, precisely an extra complete or partly duplicate of chromosome 21 in particular or the entire cells of an individual thus causing a condition known as Down syndrome (DS). The state results in various hallmark traits and intellectual effects such as hypotonia, small body especially the ears and head, ear abnormalities, and nasal bridges that are flat shaped (Kidshealth). The condition is evident in one out of 691 children born in America, and over 400,000 persons subsist with the status in the United States. The state is more evident in boys than girls. There may also be chronic ear problems as a result of orofacial and craniofacial anatomy of DS. Diagnosis happens at birth by evidence of physical characteristics, but the real manifest of DS differs significantly. The diagnosis may get delayed where unnecessary importance is given to the usual physical characteristics (Kidshealth).

Causes Effects and Diagnosis of Down syndrome

Chromosome 21 that is usually collected from the mother of a child is the primary cause of Down syndrome. As a result, a kid ends up having 47 chromosomes instead of the usual 46 which leads to the delays and physical deformities in DS. There exists no proof of the actual causes of the condition although scientists cite that mothers who give birth after the age of 35 have higher chances of conceiving a kid with Down syndrome (Kidshealth).

Hypotonia commonly known as low muscle tone is a primary issue children experience with DS. A majority of the kids suffering from DS encounter delayed achievements of the normal milestones of life such as walking, crawling and sitting up. At birth, these children are normal, but as they grow, the growth rate gets slower and do not attain heights like the rest of the children (Thomas). The kids with DS encounter hardships in feeding, cleaning, dressing, and taking care of themselves (kids). The fact that kids with DS might not attain such points as the normal children only become evident within the first year after birth. Despite the struggles they experience, they have the potential of being experts in different sections of learning. Therefore, it is inappropriate to have the same expectations from children with DS and other children at class since the two are at different learning levels.

There are those children with DS who are born without any medical defects while others get conceived with a congenital heart defect. The children are also prone to the heightened risk of contracting pulmonary hypertension, which is capable of intensifying to a permanent lung impairment. Doctors need to evaluate children to assess them and ensure that their health stays stable. Research indicates that about half of kids born with DS encounter vision and hearing problems (George). The loss of hearing is brought about by fluid accumulation behind the internal ear or ear structural problems. The vision issues include increased risk of cataracts, and farsightedness also called cross eyes.

However, there exist other types of chromosomal abnormalities such as mysticism and translocation. The kind of DS does not matter since all those who suffer from it have an additional 21 st chromosome which brings about a further genetic compound, interfering with the progression of development (George). A faulty cell fragmentation called nondisjunction causes an embryo with three 21st chromosomes instead of two. The inappropriate cell division is accountable for about 95 percent of entire occurrences of DS. However, despite many years of research, the actual cause behind nondisjunction is not yet known (George). When the nondisjunction happens in one of the prior cell fragmentation after fertilization, it causes mosaicism. Research indicates that people with mosaic DS are less affected as compared to those who suffer from trisomy 21.

Translocation is a chromosomal issue and is evident in about three to four percent of persons with DS (George). It happens when there is a partial break of chromosome 21 at the time of cell division and affixes to another chromosome. Despite the number of chromosomes remaining 46, the presence of an added portion of number 21 brings about characteristics of DS (George). Translocation is not in any way associated with maternal age as compared to nondisjunction. Nevertheless, the translocated chromosome is usually from one of the parents in about one-third of cases (Thomas). Therefore, there is a higher risk of recurrence of translocation as compared to nondisjunction.

Conclusion

Children with Down syndrome show different physical features from that of normally developing kids. The children get affected in many areas such as in physical characteristics that are the face and height. The kids look slightly different, their heads appear smaller, and their nose is usually smaller in size (George). DS is the most frequent chromosomal disorder, and further research aimed at improving the lifestyles of persons suffering from it is necessary. The treatment of the deformities caused by Down syndrome is the most significant step towards giving persons affected by DS the quality of life they deserve. Children with Ds need a regular check-up by a specialist so that in case of any change, it is appropriately handled and get fixed immediately after detection.

Works Cited

Capone, George T. “Down Syndrome.” Oxford Medicine Online, 2017, doi:10.1093/med/9780199937837.003.0056.

Eggermann, Thomas, and Gesa Schwanitz. “Genetics of Down Syndrome.” Genetics and Etiology of Down Syndrome, 2011.

“Down Syndrome.” Edited by Mary L. Gavin, KidsHealth, The Nemours Foundation, Sept. 2015, kidshealth.org/parent/medical/genetic/down_syndrome.html.