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The Exceptional Aspects Of Down Syndrome

Posted Apr 01 2009 3:00pm
Down syndrome is one of about twelve identified chromosomal disorders- some of which are caused by additional chromosome, in whole or in part.   With Down syndrome, that extra chromosome is added to the 21st chromosome during fetal development.   Down syndrome is also known as Trisomy 21.    Chromosomes are strands that contain DNA and protein which are necessary for cell division and genetic diversity. The syndrome was given recognition by Dr. John Down in 1866. The cause of why Down syndrome occurs was not discovered until the 1950s. In the United States, there are about a half a million citizens with Down syndrome.   About one out of over seven hundred births will be a neonate born with Down syndrome.   There is a correlation between older mothers and their chance of having a baby with Down syndrome. Not long ago, this figure was around one out of every one thousand births.   This does not mean that there are more situations with Down syndrome than in the past. It is suspected that fewer women are deciding to have an abortion if they discover their unborn child has Down syndrome.   Yet about 80 percent of Down syndrome developments die before being born without intervention. With Down syndrome, the extra chromosome leads to an over-production of certain proteins in the human body.   This over-production causes a variety of systemic effects with one who has this syndrome.   Less than half of Down syndrome people are at an increased risk for congenital heart defects and disease, which decreased their lifespan somewhat. 

Most Down syndrome people will develop hypothyroidism, which is very treatable, and are at an increased risk for developing Leukemia.   Also, the Down syndrome person is at an increased risk for GERD and Alzheimer’s disease, as well as sleep disorders and decreased fertility ability.   With Down syndrome, the skull lacks symmetry, and microencephaly is present as well. 

Yet the mental disabilities are mild to moderate with most Down syndrome people.   Also, their body type is a unique mesomorph structure, with some limitations on their morphology and their range of motion. 

The behavior of one with Down syndrome includes them usually being rather placid, along with rare bouts of crying episodes.

Down syndrome people also have unique facial features, all of which is due to their extra chromosome.   Yet some with Down syndrome are more or less within normal limits regarding their potential traits associated with their syndrome. The one with Down syndrome will likely need to wear glasses to correct vision impairment, which is not much different than many humans.   About a third of Down syndrome patients will need bifocals eventually.    Overall, the one with Down syndrome has a life expectancy approaching 60 years of age or longer. Over a hundred years ago, most suspected of having Down syndrome were institutionalized and experienced forced sterility.   They usually died young from malnutrition and lack of medical care.   This was due to those with Down syndrome being labeled as ones with Mongolian idocy, which means that others thought of them as ethnic idiots.    In fact, Mongolism has existed in medical textbooks until at least the late 1970s. One book that referred to Down syndrome people as Mongolism was The Encyclopedia of Common Diseases written by the fine staff at Prevention Magazine, and the book was published by Roledale press in 1976.   They exaggerated the signs and symptoms of Down syndrome- stating that their basic structure and functionality remains extremely limited from the time of birth, which is certainly not true. Presently, there are disagreements by many that exist regarding Down syndrome, prenatal genetic screenings for such disorders, and the consequences that may follow.   Some believe the testing in this manner suggests eugenic thinking by others.   Presently, about 3 million screenings of this nature are performed every year. The 17th edition of the Merck Manual offers some recommendations regarding prenatal screening:   First, inheritance patterns should be better understood as much as possible.   Also, such genetic screenings should be performed only if effective therapy is currently available.   The manual suggests that others define the risks of positive results from genetic screenings in order to make plans accordingly. Laws exist that require doctors to provide information and support contacts of services related to one who may be carrying an unborn child with Down syndrome.   Overall, doctors are not prepared to explain the diagnosis of Down syndrome thoroughly.    Also, doctors have been known to embellish the negative aspects of this syndrome, and others have encouraged women who are carrying a Down syndrome fetus to terminate their pregnancies.   Possibly about 20 to 30 percent of doctors suggest abortion to those who screen positive for Down syndrome.   Most women take their doctor’s suggestion when this occurs. Yet only about half of all pregnant women choose to be tested and screened for Down syndrome.   Among other reasons, present testing methods pose a risk to the unborn child due to the invasive procedures   performed to rule out Down syndrome.    However, newer diagnostic genetic screening techniques are becoming available that are not invasive, and this concerns many.   The newer screening techniques can detect Down syndrome earlier in the first trimester, and potentially may encourage women to abort the fetus if they learn that it has Down syndrome.    The makers of these new screening devices have things to say on the topic of genetic screening.   One company says that their genetic screening device allows one to ‘eliminate unresolved results’.    Another company says their screening method allows for better preparation for potential 'problems' with their infants.   Problems?   I’d choose a different word.  One more company states regarding their testing device that it offers women (not couples) the reassurance, certainty, and accuracy that they ‘need’ to make better, more informed decisions.   Any decision made regarding a positive test result is not limited to objective criteria.   And the FDA does not regulate genetic testing and screenings. 

The educating of doctors in particular, as well as future parents of Down syndrome will prove to be ultimately beneficial for the Down syndrome person that will soon exist.  

The teaching of skills to parents of one with Down syndrome allows for better coping methods with their child’s limitations.   Literary intervention with specific approaches related to the syndrome will improve teaching methods, and will allow others to learn more about how one with Down syndrome acquires knowledge and abilities. Because, overall, Down syndrome people have the ability to lead relatively normal and healthy lives. 

www.ndsccenter.org

www.dowsed.org 

Dan Abshear

     
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