Buckley Frank: Modelling Down syndrome

Junior (College 3rd year) ・Healthcare&Medicine ・MLA

In this article, Buckley talks about Down syndrome (DNS/ DS) which is a chromosomal disorder that is caused by the partial or full presence of an extra third copy of chromosome 21 as a result of a cell division error (nondisjunction). The first physician to adequately describe the syndrome systematically was John Langdon Down. Physical growth is associated with the syndrome, characteristic facial features, and moderate or mild intellectual disability. In Frank Barkley's Modeling Down Syndrome article, Downs’s syndrome is discussed under various subheadings which try to expound more on what it entails, its types, how common it is, its causes, risk factors associated with the syndrome, characteristics, its relation to other medical conditions and its diagnosis.

The chromosomal disorder can occur in three cases namely trisomy, mosaic, and translocation. In several cases, the disease is not hereditary. Trisomy 21 is a generic problem associated with the occurrence of an extra pair of chromosomes. The condition occurs by chance when there is a mistake in cell division which causes the reproductive cell to have an odd number of chromosomes. There's a higher chance for the condition to occur in boys than in girls. Mosaic downs syndrome, on the other hand, happens in the early fetal development stage and as a result, some of the cells have the standard pair of chromosome 21 while other cells have three copies of chromosome 21.  Translocation Downs’s syndrome can be inherited and is brought about by the presence of a balanced translocation. A balanced translocation is the genetic material located in between chromosome 21 and a different chromosome, and are arranged differently than the usual. It is known as a balanced translocation because there is no additional substance from chromosome 21 (DS). The carriers of this condition do not show signs of Down syndrome, but they have a higher chance of passing it to the children. The Down syndrome is not so rampant and roughly affects 1 in 800 live births.

The traits are seen in children with Downs’s syndrome range from moderate to acute. Most of the signs and symptoms are on an individual basis but nonetheless, there are shared or common signs the most common being cognitive disability. Other standard features associated with Downs syndrome include; Brushfield (white spots on the iris), small body frame, hypotonia (poor muscle tone), short neck, regular makeover profile, unusually designed ears, an increasing angle to the eye and an exaggerated space between the first toe and the second. Besides these characteristics, individuals with DS are at a high risk of developing other medical conditions which come with different symptoms. Some of this conditions include difficulties in hearing, heart diseases, eye problems, delay in development, complications with the immune system, Alzheimer's disease, cancer e.g. Leukemia, joints, bone, nerve and muscle problems, seizure disorders and thyroid problems. Down syndrome can be diagnosed before the child is born or shortly after birth. A blood test is usually done to affirm the presence or absence of the Downs syndrome.  Possible treatment methods include surgery, medications, regular screening and checkup, support and counseling.

In the article, chromosomes are discussed at length. Downs syndrome is a chromosomal disorder, and the article gives a clear insight into its causes, types of chromosomes affected and different modes in which it can occur, beefing up the content in the school's course work. The reason for choosing the particular article was its in-depth understanding of the issue at hand and use of simple language throughout. Downs syndrome has its effects the society since in some communities people with the condition are regarded as outcasts or as mentally retarded and inevitably their social life is significantly affected. After reading the article, the only question that came to my mind was why some natural phenomena occur, and we have no power to alter them.

Works Cited

Buckley, Frank. "Modelling Down syndrome." Down syndrome Research and Practice 12.2 (2008): 98-102.

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