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Down Syndrome
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ImageDown Syndrome is a genetic condition named after John Langdon Down, who was the first physician to recognize the symptoms in 1866. The cause of these collective symptoms was discovered by Jerome Lejeune in 1959: It is a condition caused by the presence of an extra chromosome. Rather than the typical 46, a Down Syndrome child has 47. This extra material causes the physical characteristics of Down Syndrome as well as developmental delays and varying degrees of mental retardation.

The physical attributes are often the most obvious.

There are typical physical attributes present in children with Down Syndrome, although children will not always display all of them.  These features include a flat appearance of the child in profile,  a flattened area across the nose at the level of the eyes, eyes that slant upwards with skin folds in the corners, and smaller than usual mouths, ears, hands, and feet.

Other difficulties become apparent over time and vary greatly from child to child.   One of the most prevalent is hearing loss.  Many have congenital heart disease, intestinal issues, eye problems, thyroid disorders, obesity, and unstable joints.

Down Syndrome can be detected before birth by means of screenings and diagnostic tests.  Screenings are preliminary tests that determine probability.  Ultrasound tests and blood tests on the mother are taken, and if the results warrant, then diagnostic tests will be performed.  These include amniocentesis, Chroionic villus sampling (CVS), or Percutaneous umbilical blood sampling (PUBS).

The earlier a diagnosis is made, the sooner the child can be started on the various therapies available and medical intervention can begin.  Motor skills will need to be developed, and later when the child begins to speak, speech therapy can help establish communication skills.  With the many peripheral physical disabilities that come with Down Syndrome come specific protocols for treatments and adjustments.

There are varying degrees of mental and physical disability with Down Syndrome, but now more than ever before these children are integrating into the world around them.  They are mainstreamed as much as possible, and thanks to very effective modern therapies their cognitive and motor skills are maximised.

Today the general public is better educated about Down Syndrome.  They are therefore more understanding of the capabilities, possibilities, and needs of Down Syndrome kids.  More than anything else, the Special Olympics has showcased the amazing abilities of disabled children, including those with Down syndrome, and have brought enlightening attention to their conditions.

Some children with Down Syndrome can grow up to become independent to a degree, living apart from their parents in supervised settings or group homes.  Many can learn specific skills so that employment is an option.  There are social opportunities as well, giving children with Down Syndrome a higher quality of life than ever before.

Article by Rachel Goodchild


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