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November 05, 2016

What is Down Syndrome?



Today, it is no longer uncommon to find someone who has Down Syndrome. It is a condition with no definite cure, which is why individuals need to know more about the nature, risks and symptoms to alleviate very well. Learning about the features and the syndrome itself can help you stay ahead and prevent complications. Here are the characteristics.

Defining Down Syndrome

Down syndrome or Down's syndrome is also known as trisomy 21. It is a chromosomal disorder triggered by the presence of a portion or the entire extra 21st chromosome. The condition is named after John Langdon Down, a British doctor who described the syndrome back in 1866. The disorder was known as chromosome 21 trisomy by Jerome Lejeune in 1959. A mixture of major and minor structural differences characterizes the condition. In most cases, Down syndrome is linked to problems with physical growth, facial appearance and cognitive ability. 

Patients afflicted with Down syndrome usually have below average cognitive ability, ranging anywhere from mild to moderate developmental disabilities. There are also a few who have severe to profound mental disability. About 1 in every 800 to 1,000 births is found to have Down syndrome, although the numbers are highly influenced by the mother's age. Other factors also have a role. 

The Features 

Several common physical features of the condition occur in individuals with a standard chromosome set too. Some of the inclusions may be a single transverse palmar crease, almond shape to the eyes due to the eyelid's epicanthic fold , upslanting palpebral fissures, poor muscle tone, shorter limbs, bigger than usual space between the second and big toes and a protruding tongue. Some of the other health risks for patients include a heightened risk for gastroesophageal reflux disease or GERD, congenital heart defects, obstructive sleep apnea, thyroid dysfunctions and repetitive ear infections. 

Early childhood intervention, vocational training, common problem screening, medical treatment and a conducive family environment can prevent the development of Down syndrome among children. Proper care and education that leads to an improvement in quality of life can help, even though some of the features of the condition cannot be controlled.

About the Chromosomes

A normal baby inherits genetic information from the parents during conception through 46 chromosomes. 23 comes from the mother, while 23 comes from the father. In several cases of Down syndrome, a baby can inherit an extra chromosome 21. The total chromosome count then becomes 47 instead of the usual 46. The extra genetic material leads to the developmental delays and physical features linked with Down syndrome. 

There is no true known reason why Down syndrome occurs, and there are also no known ways to stop the chromosomal error that leads the condition. Women 35 years old and older, however, have a higher risk of bearing kids with the condition. Women 30 years old have an estimated 1 in 900 chance of bearing a child with Down syndrome. Women 35 years old have an estimated 1 in 350 chance of bearing a Down syndrome baby. Those 40 years old have a higher risk of about 1 in every 100. 

Preparations

There is always a risk for parents to bear children with Down syndrome. The more important thing is that they stay prepared just in case the inevitable occurs. Early screening and diagnosis can help and alleviate the problem well.

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