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MEDICAL THREAD V2 - DOWN SYNDROME


High Priest

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Im putting this thread together because i honestly know very little about Down Syndrome and felt like doing a little research into the subject to try and learn a little more about the condition.So anyway, here's what i found if anyone has any interest .

 

Cause: Down syndrome is usually caused by an error in cell division called non-disjunction. However, two other types of chromosomal abnormalities, mosaicism and translocation, are also implicated in Down syndrome - although to a much lesser extent. Regardless of the type of Down syndrome which a person may have, all people with Down syndrome have an extra, critical portion of the number 21 chromosome present in all, or some, of their cells. This additional genetic material alters the course of development and causes the characteristics associated with the syndrome.

 

Why should we be concerned about Down syndrome?

 

Chromosomal abnormalities are a widespread medical problem, with Down syndrome being the most common genetic condition. One in every 800 to 1,000 children is born with Down syndrome.

 

More than 50 percent of miscarriages are caused by a chromosomal abnormality. As many as 25 percent of all miscarriages are caused by a trisomy, which is the presence of three copies of a particular chromosome, rather than the normal two.

 

The most common form of Down syndrome is called Trisomy 21, because it involves an extra copy of the 21st chromosome. Twenty to 25 percent of children conceived with Down syndrome survive past birth.

 

Is Down syndrome transmitted from the mother or father?

 

The additional genetic material which causes Down syndrome can originate from either the father or the mother. Approximately five percent of the cases have been traced to the father.

 

Who has the highest risk of having a child with Down syndrome?

 

Down syndrome affects people of all races and economic levels. Women age 35 and older have a significantly increased risk of having a child with Down syndrome. A 35-year-old woman has a one in 400 chance of conceiving a child with Down syndrome and this chance increases gradually to one in 110 by age 40. At age 45 the incidence becomes approximately one in 35.

 

Since many couples are postponing parenting until later in life, the incidence of Down syndrome conceptions is expected to increase. Therefore, genetic counseling for parents is becoming increasingly important. Still, many physicians are not fully informed about advising their patients about the of incidence of Down syndrome, advancements in diagnosis and the protocols for care and treatment of babies born with Down syndrome.

 

*Alright, here's something interesting :

 

In June 2001, a study was published by the Center for Disease Control and Prevention indicating a stark racial disparity in the median life spans of people with Down syndrome. The study, based on an analysis of 34,000 multiple-cause mortality files from 1968 to 1997, indicated that the median age at death for white people with Down syndrome is 50 years, while it is 25 years for black people and 11 years for people of other races.

 

Although NDSS has operated on the assumption that a level of socio-economic disparity exists (due to poor health care, access to information and other factors), and has worked in a variety of ways to address it, the Society was dismayed to learn that the racial disparity is so stark.

 

The Society reinforces the study's assertion that there is no evidence indicating that people with Down syndrome who are black or of other races are more likely to develop life-threatening conditions associated with Down syndrome.

 

By working through a national network of parent support groups and a new health care professional program, NDSS has tried to address the larger issues of education (both professional and parental), community support and access to quality medical care. It is clear that more needs to be done that is specifically targeted to those who are black and of other races.

 

This issue is of utmost importance to the Society and we are already working on ways to address it. Further study to determine the causes of this disparity are critical. By determining the causes, NDSS can then be better equipped to address them and reduce this tragic disparity.

 

 

 

Myth's & Truth's:

Myth: Down syndrome is a rare genetic disorder.

 

Truth: Down syndrome is the most commonly occurring genetic condition. One in every 800 to 1,000 live births is a child with Down syndrome, representing approximately 5,000 births per year in the United States alone. Today, Down syndrome affects more than 350,000 people in the United States.

 

Myth: Most children with Down syndrome are born to older parents.

 

Truth: Eighty percent of children born with Down syndrome are born to women younger than 35-years-old. However, the incidence of births of children with Down syndrome increases with the age of the mother.

 

Myth: People with Down syndrome are severely retarded.

 

Truth: Most people with Down syndrome have IQs that fall in the mild to moderate range of retardation. Children with Down syndrome are definitely educable and educators and researchers are still discovering the full educational potential of people with Down syndrome.

 

 

Myth: Down syndrome can never be cured.

 

Truth: Research on Down syndrome is making great strides in identifying the genes on chromosome 21 that cause the characteristics of Down syndrome. Scientists now feel strongly that it will be possible to improve, correct or prevent many of the problems associated with Down syndrome in the future.

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it is a shame for these young people but theres not really alot for us to be able to do about it and yes it is facinating about that race related bit up top and did u know if ur kind and caring to people with down syndrome and treat them with the utter respect that every one gets who u know they can bond with u like glue and its amazing cus they can be such loving people just like the rest of us and thats what poeple forget there HUMAN BEINGS ASWELL so dont try to rip the piss out of them cus they maywell look and seem different but the actually are safe happy loving carring people just like ur selfs

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Other common abnormalities. The pictures for these are pretty fucked up so i don't think i will post.

 

Trisomy 18 = Edwards Syndrome. due to nondisjunction in egg during meosis2. Severe mental and physical disabilities. skull often narrow and flat, low set ears. 2 outer fingers tend to overlay inner ones, fingerprints sometimes missing.

 

Trisomy 13 = Patau syndrome. Low life expectancy, severe abnormalities. Sometimes born with one eye.

 

Cri du Chat = missing part of chromosome 5. Crying in these individuals sounds like the crying of a cat. Impaired language developement, mental retardation and a pinched face can be features.

 

Sex chromosome abnormalities are often much less severe. Some people live with them and don't even know.

 

X = Turners Syndrome. Sexually underdeveloped, significant fold on neck. Cannot hear certain frequencies and cannot have children.

 

XXX = Triplox. 1 in 1000 fems. Very tall, irregular periods, slightly lower intelligence.

 

XXY = Klinefelters Syndrome. Underdeveloped male. Infertile, little facial hair, man breasts.

 

XYY = Jacobs syndrome = 1 in 1000 males. Very tall, acne, speech and reading difficulties.

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