Down Syndrome
What is Down Syndrome?Down syndrome is the genetic condition caused as the result of a chromosomal abnormality (Fernandez, 2014). This syndrome affects 1 in 860 child births and is present in all races and cultures. The word ‘Down’ was given for this syndrome when English Physicist Dr. Langdon Down first recorded characteristics of people with this syndrome. The extra chromosome present in the cells of people with Down syndrome was first discovered fairly recently by Jerome Lejeune in 1959 (Genetics Home Reference, 2012).
How can you find out if your child has Down syndrome?There are two types of tests a doctor can complete to tell you if your child is at risk of Down syndrome. Screening tests estimate the chance of child having Down syndrome whether it be 1 in 500 chance or 1 in 100 chance. The first trimester screen is a blood test women may have between weeks 9 and 12 of pregnancy which is combined with the results of a nuchal translucency measurement (a pocket of fluid at the back of the baby’s neck) to find the chance of your child having Down syndrome. The second trimester screen will be offered between weeks 14 and 20 of pregnancy and is the measurement of proteins present in the foetus. The integrated screening is the next test to come and it combines the first trimester screen and the second trimester screen. This is the most accurate test identifying 96% of cases of Down syndrome (WebMD, 2015).
Present and Future Studies of Down syndromegenetic condition, Down syndrome, has always been known to be incurable. Recent findings from a number laboratories have found as stated by Laidman, ‘that there are some disabled chemical pathways in the brain that may be restored with medication.’ The John Hopkins University’s latest star Roger Reeves has potentially found to the learning and memory defects present in the condition. Typically, people with Down syndrome have a cerebellum (source 3) 40% smaller than normal size. The cerebellum is the part of the brain that controls motor function and learning as well as balance. Reeves has gained a clearer picture of the anomalies in a brain with Down syndrome by restoring the cerebellum’s size.
Source 3
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How does Down syndrome occur?
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