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Down Syndrome
by Stephen A. Peterson 
03/19/14
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Down Syndrome
© 2014

by

Stephen A. Peterson


Linked with intellectual and developmental disabilities is Down Syndrome.

Down Syndrome is a genetic disorder that occurs when cellular materials do not properly divide during development of the human egg (ova), sperm cell or in the embryonic stage. More than 90% of individuals with Down Syndrome have three copies of chromosome 21 (Trisomy 21) rather than the normal two in all of their body cells.



Those also diagnosed with Down Syndrome are individuals with some copies of chromosome 21 in some of their body cells are identified as possessing Mosaic Down Syndrome. The third classification of Down Syndrome, Translocation, have extra pieces or parts of chromosome 21 in their body cells.

John Langdon Down (1828-1896), a British physician, was the first to identify and classify his observations of this disability in 1866. In his paper entitled “Observations on the Ethnic Classification of Idiots”, he advanced the theory that it was possible to classify the human races by certain external physical characteristics. He erroneously classified persons with this disability as “Mongoloid”, a racial group, based on facial features especially the shape of the ocular area that does not possess the epicanthic eye of many within this racial group. After nearly a hundred years of referring to Down Syndrome as “Mongolism/Mongoloid”, an International hearing was convened ruling the rules the usage inappropriate. This genetic disorder is only referred to as “Down Syndrome” for the individual who identified it—Dr. John Langdon Down.

There are no known factors reported to cause Down Syndrome. It is known it occurs infrequently in the human populations around the world—about 1 in 1000 live births. Over the past 50 years or so, researchers have found the major risk factors include women in their middle to late 40’s, having one Down Syndrome, and being a female or male with the translocation Down Syndrome gene. This does exclude younger than 40 years of age. It is simply that the risks were found highest in these groups.

Individuals with Down Syndrome have distinct physical factors. Not all individuals with Down Syndrome have all of the features in question. The more common features are the following:

• Upward slant to the eyes
• Smaller than usual head
• Flatten facial features
• Reduced chin
• Short neck
• Unusual shaped ears

Other features are sometimes present are:
• Heart defects
• Problems with weight
• Poor muscle tone
• Short fingers on broad short hands
• Dental abnormalities
• Problems around some the joints

Determining whether a pre-born child has Down Syndrome can be discerned during pregnancy at the request of the parents or advised by the attending prenatal doctor if there is a belief risks factors exists. Screening tests include: ultrasound, amniocentesis or obtaining a blood analysis. Other tests are being developed for this purpose. Each test screen for partial or complete genetic defects in the 21st chromosome.

The health, allied health and child developmental communities report it is difficult to predict the physical, mental and developmental levels of individuals with Down Syndrome. The National Down Syndrome Society and the National Association for Down Syndrome regularly give reports from around the United States and other nations the success stories of families with Down Syndrome family members. Families with Down Syndrome individuals are encouraged to access these websites for updated information and strategies for their family member. Families are also encouraged to identify, join and participate in their state and local associations that advocate for person with Down Syndrome.

Lastly, families with a Down Syndrome member should know that many parents, siblings and their friends report happiness, joy and personal satisfaction with their family member. They report numerous occasions wherein not wishing to change their situation in any way! For them their family IS a blessing from God!



National Association For Down Syndrome
1460 Renaissance Drive
Suite 405
Park Ridge, Illinois 60065
Telephone Number: (630) 325-9112
Website: www.nads.org
To obtain information: info@nads.org


National Down Syndrome Society
666 Broadway, 8th Floor
New York, New York 10012
Telephone Number: (800) 221-4602
Website: www.ndss.org
To obtain information: info@ndss.org


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