The Causes And Effects Of Down Syndrome

1241 words - 5 pages

Down syndrome, also known as trisomy 21, occurs when a child is born with three copies chromosome 21, as you can see in Figure 1. This can be caused by three different processes; nondisjunction, mosaicism, or translocation. Nondisjunction occurs during the reduction of chromosomes, from 46 to 23, after the egg and sperm have combined, causing one parent to pass on 24 instead of 23. In the case of Down syndrome, the extra chromosome is chromosome 21. Mosaicism is a rare occurrence, happening “in approximately one to two percent of Down syndrome cases” (Johnson, 2013). Initially, the correct number of chromosomes is passed on from the parents, but during the phase following fertilization, when the cells are dividing quickly, one cell divides irregularly, creating a group of cells with an extra copy of chromosome 21. A child with this type of Down syndrome has two kinds of cells, those with 46 chromosomes and those with 47, and usually has less severe signs and symptoms of Down syndrome. Translocation also occurs quite rarely, and happens during cell division when chromosome 21 breaks and attaches to another. All cells continue to have 46 chromosomes, but the broken part of chromosome 21 results in signs and symptoms of Down syndrome.
Along with Down syndrome come many types of defects. According to A. Johnson, “Approximately 30-50% of all children with Down syndrome are found to have heart defects” (2013). Several different types of heart defects are common within people with Down syndrome, but all cause irregular blood flow patterns to the heart, meaning that less oxygen is pumped through the body, resulting in “fatigue, a lack of energy, and poor muscle tone” (Johnson, 2011). In addition, 5-7% of children with Down syndrome have a deformed gastrointestinal tract, the most common deformity being a narrowed and obstructed duodenum, which is the part of the intestine that the stomach empties into, called duodenal atresia. This causes interference with the baby’s food entering the intestine and going through digestion, and the baby will often forcibly vomit after eating, and have trouble gaining weight. Another deformation of the gastrointestinal tract often seen in people affected with Down syndrome is an abnormal connection of the windpipe to the esophagus, called trachea-esophageal fistula, and causes air to enter the digestive system, and food to enter the airway. Because of their poor muscle tone, children with Down syndrome develop at a slower pace than other unaffected children do. They learn to walk, crawl, sit-up, and especially speak, at a much slower pace. With the right education, people affected with Down syndrome can learn, but have a mild-to-moderate level of intellectual disability. Most can learn to read and write, and eventually grow up to be semi-independent adults. Johnson noted that other medical issues that people with Down syndrome suffer from “include an increased chance of developing infections, especially ear infections...

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