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Unique Aspects of Down SyndromeDown syndrome is one of about twelve identified chromosomal disorders- some of which are caused by additional chromosome, in whole or in part. With Downsyndrome, that extra chromosome is added to the 21st chromosome during fetaldevelopment. Down syndrome is also known as Trisomy 21.Chromosomes are strands that contain DNA and protein which are necessary for celldivision and genetic diversity. The syndrome was given recognition by Dr. John Down in 1866. The cause of whyDown 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 Downsyndrome. There is a correlation between older mothers and their chance of havinga baby with Down syndrome.Not long ago, this figure was around one out of every one thousand births. Thisdoes 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 discovertheir unborn child has Down syndrome. Yet about 80 percent of Down syndromedevelopments die before being born without intervention.With Down syndrome, the extra chromosome leads to an over-production of certainproteins in the human body. This over-production causes a variety of systemiceffects with one who has this syndrome. Less than half of Down syndrome peopleare at an increased risk for congenital heart defects and disease, which decreasedtheir 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 syndromeperson is at an increased risk for GERD and Alzheimer’s disease, as well as sleepdisorders and decreased fertility ability. With Down syndrome, the skull lackssymmetry, 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 ontheir 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 theirextra chromosome. Yet some with Down syndrome are more or less within normallimits regarding their potential traits associated with their syndrome. The one with Down syndrome will likely need to wear glasses to correct visionimpairment, which is not much different than many humans. About a third of Downsyndrome 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 wereinstitutionalized and experienced forced sterility. They usually died young frommalnutrition and lack of medical care. This was due to those with Down syndromebeing 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 TheEncyclopedia of Common Diseases written by the fine staff at Prevention Magazine,and the book was published by Roledale press in 1976. They exaggerated the signsand symptoms of Down syndrome- stating that their basic structure andfunctionality remains extremely limited from the time of birth, which is certainly nottrue.
 
Presently, there are disagreements by many that exist regarding Down syndrome,prenatal genetic screenings for such disorders, and the consequences that mayfollow. Some believe the testing in this manner suggests eugenic thinking byothers. Presently, about 3 million screenings of this nature are performed everyyear. The 17th edition of the Merck Manual offers some recommendations regardingprenatal screening: First, inheritance patterns should be better understood as muchas possible. Also, such genetic screenings should be performed only if effectivetherapy 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 syndromethoroughly.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 toterminate their pregnancies. Possibly about 20 to 30 percent of doctors suggestabortion to those who screen positive for Down syndrome. Most women take theirdoctor’s suggestion when this occurs. Yet only about half of all pregnant women choose to be tested and screened forDown syndrome. Among other reasons, present testing methods pose a risk to theunborn child due to the invasive procedures performed to rule out Down syndrome.However, newer diagnostic genetic screening techniques are becoming availablethat are not invasive, and this concerns many. The newer screening techniques candetect Down syndrome earlier in the first trimester, and potentially may encouragewomen 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 allowsone to ‘eliminate unresolved results’. Another company says their screeningmethod allows for better preparation for potential 'problems' with their infants.Problems? I’d choose a different word.
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