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Down Syndrome facts

Down syndrome is characterized by facial deformities and mild to severe mental retardation. It occurs as a result of an extra 21st chromosome.  Its severity varies from person to person, ranging from mild to serious developmental problems. People with this type of genetic disorder exhibit similar characteristics such as short physique, large eyelids, sleepy eyes and flat nose. They may also suffer from other medical conditions such as sleep apnea, gastroesophageal reflux, congenital heart defects and chronic ear infection.

It was John Langdon Down who first identified Down syndrome in 1866. The disorder affects people from all races and has been closely associated to maternal age. Around 1 out of 800 to 1000 births are affected by the condition. Cure is not available but a lot of things can be done to manage the condition.

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What causes Down Syndrome ?

Down syndrome occurs when the body has an extra chromosome 21. People have 23 chromosomal pairs, a total of 46 chromosomes. Those who are suffering from this condition have 47 chromosomes as a result of the extra copy of chromosome 21. Researchers are puzzled as to what causes the extra copy. What they know is that it occurs when the cell division of the egg or sperm cell before conception is interrupted. There is no environmental or behavioral factor that could initiate this abnormality.

However, a lot of factors can increase the risk of having a child with Down syndrome, and these include:

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  • Advanced maternal age
  • Carriers of genetic translocation
  • Having a child with Down syndrome

What role does early screening play for the management of Down syndrome?

Down syndrome can be detected even during pregnancy. This is the reason why it has been included in prenatal care. Screening plays a vital role in the early detection and diagnosis, giving parents sufficient time to prepare for a child with Down syndrome. Early detection enables parents to look for ways to improve the quality of life of their child afflicted with the syndrome. Studies have shown that greater stimulation, therapy and teaching have a huge effect on the intellectual ability the afflicted child. In fact, many were able to live satisfying lives, study in mainstream schools and obtain jobs despite their condition.

Down syndrome pictures

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