Down's Syndrome

Recent developments in the study of the condition have helped increase the life expectancy of people with Downs massively - it was about 20 thirty years ago, and well over 40 now. The "low IQ" is largely the product of neurological auditory problems, particularly with short-term auditory memory; it's difficult to follow speech if you can't remember the beginning of the word when the speaker gets to the end of it, hence more a legitimate case of the phrase "learning difficulties": delayed speech development tends to knock on all the way through education, of course, as a result of which most people with Downs are denied any chance of academic achievement, largely by virtue of being hived off into ghettos for easy containment. However, approaches using sign language from an early age alongside speech therapy have proven very successful, and in more enlightened societies (and Great Britain, too) Downs children are increasingly being educated within mainstream systems.

Subtext: you reckon my kid's unintelligent? No way. He's a destructive monster with whom it is impossible to reason, much like most other two nine year olds, but with impressive reserves of practical problem solving ability, as you would realise if you ever tried to keep him indoors when he wants to go outdoors for an unsupervised wander.

Paper I once did for "health" class...

What Is Down Syndrome?

Down Syndrome occurs in approximately one out of every 800 births. It is a chromosomal disorder and a form of mental retardation which causes mild to severe learning disabilities. Over 350,000 in the United States have Down syndrome.

Symptoms Of Down Syndrome

• Learning disabilities
• Small skull
• Flattened nose bridge
• Extra folds of skin under eyes
• Large protruding tongue
• Low muscle tone
• Short, stuby hands
• Upward slanting eyes
• Small, abnormally shaped ears and teeth

Causes

Down syndrome is a genetic error that comes from a process called nondisjuntion. In nondisjunction, paired chromosome members fail to separate from each other during meiosis; the cell division that reduces the number of chromosomes in reproductive cells.

More specifically, Down syndrome occurs when an individual inherits all or part of an extra copy of chromosome 21. The most common cause for this is the disorder Trisomy 21, which accounts for some 95% of all cases. When a person has Trisomy 21, there is a third copy of chromosome 21 in every cell of the body.

The occurrence or Trisomy 21 is directly related to the age of the mother. The older a woman is when she gives birth, the more likely the child is to be to get Trisomy 21. Here is a chart of the likelihood of the child to have Trisomy 21 according to the mother’s age.

Chance of getting Trisomy 21-

If mother is 18 years old: 1 in 2100
If mother is 30 years old: 1 in 1000
If mother is 40 years old: 1 in 110
If mother is 45 years old: 1 in 35

Mosaic down syndrome is another type of chromosomal abnormality. This occurs when there is an extra copy of chromosome in only some cells in the body.

Another cause is Translocation. Translocation happens when a child inherits an extra, small piece of chromosome 21 which is attached to another chromosome. The child may inherit Down syndrome and not show any symptoms of it if there is only one normal 21st chromosome in addition to translocation. If there are two normal 21st chromosomes, the person will have only some features of Down syndrome.

Both Mosaic Down syndrome and Translocation account for only 2 to 3 percent of all cases.

Detection

Even though there is no cure for Down syndrome, it can be detected early on. Doctors can now use prenatal tests to identify fetuses with Down syndrome. First the mother has blood tests taken. The doctors scan for three different chemical levels in the blood, which helps determine the risk of Down syndrome in the unborn child. If they find that the risk for Down syndrome is high, they administer an amniocentesis, a process where amniotic liquid surrounding the fetus is drawn from the mother’s body. Fetal cells are in the liquid and can be checked for Down syndrome. They do this to double check their findings.

Other Health Problems Or Medical Conditions Caused By Down Syndrome

People with Down syndrome are also much more likely to have many more medical conditions than people with out it. Heart abnormalities that require surgery occur in about half of all people with Down syndrome. The syndrome also causes thyroid problems in 10 to 20 percent of of the people it affects. This is why Down syndrome may sometimes be linked to dwarfism. People with Down syndrome are also some what more subject to acute leukemia, although it is usually easily, successfully treated.

Since Alzheimer's disease occurs on a gene involved with Down syndrome, geneticists believe that there may be a link between the two. In early detected Alzheimer’s cases, doctors discovered a genetic mutation which is linked to the production of amyloid, a protein in plaques. Amyloid is sometimes linked to the destruction of neurons in the body. As people with Down syndrome grow older, they usually begin to form tangles and plaque in their brain, which is thought to cause some of Down syndrome’s symptoms. About 25% of all adults with Down syndrome will develop Alzheimer’s, as opposed to only 6% in people with out Down syndrome.

People with Down syndrome are also very vulnerable to getting assorted vision and respiratory problems, as well.

Survival Rate

As new methods of early detection and modern medicines are discovered, doctors are finding better ways to treat Down syndrome patients more quickly and effectively. The survival rate for people with down syndrome has increased tremendously since the 1970s. The life expectancy of people with Down syndrome is slowly becoming more like that of people with out Down syndrome. Today in the United States, 44% of all people with Down syndrome live to at least 60 years old. Over all, the average life span for a person with Down syndrome is 55 years old.

Down Syndrome Life Styles and Conclusion

Children with Down syndrome can be taken care of in one of two ways. If they have severe mental retardation, they can be sent to an institution or a foster home where doctors and people more experienced with raising handicapped children may take care of the child. The other option is for the child to stay at home, this is usually the case for a child with a lesser retardation.

Children with Down syndrome can be trained the basic skills of life (walking, sitting, talking, playing), but usually after a child with out Down syndrome would. There is scientific evidence that children with Down syndrome that stay at home usually turn out to have a higher potential to succeed and live a normal life than those raised in an institution. People who have Down syndrome are highly responsive to their physical and social environment. With the right medical care and motivation, they can go on to make friends, attend school, find work, and make positive contributions to society.

Some acquaintances of mine here in Columbus have a daughter with Down's syndrome. The girl is apparently a genetic mosaic (in other words, some of her cells have a normal genetic structure). She is highly intelligent and has an excellent verbal ability; tests have indicated she has an IQ of about 140. She's in regular school taking advanced-placement math and honors-level English courses.

However, she's not without mental symptoms of the syndrome -- she lacks normal emotional control and has a lot of trouble with social interactions. A friend of mine has described her as being a lot like a highly-functional autistic person in that regard.

More unfortunately, the girl has a host of health problems related to the syndrome and has spent a lot of time in the hospital (in fact, as of the morning after I posted this, she was in the ICU after her most recent surgery went badly. I hope she doesn't die.).

While I know she's at the far end of the bell curve for people with Down's Syndrome, in the earlier parts of this century she'd have been given up as a lost cause at birth and probably would have been abandoned to rot in an institution someplace.

The aunt and uncle of a different friend of mine -- who are very wealthy country-club suburbanites -- had a baby with Down's in the late 70s and immediately gave him up for adoption. My impression is they assumed the child would never amount to anything and they didn't want to deal with the hassle and embarrassment of raising a "deficient" child. I hope the kid found a nice, involved family and didn't just wind up being warehoused.

This condition is named for John Langdon Down, the English physician who first published a work about the syndrome in 1866. (He didn't suffer from it himself, which is why it's usually spelled "Down syndrome" in the United States.)

Dr. Down was a superintendent for an asylum for children with mental retardation, and he noticed that several of the children there shared a common set of physical features -- most notably narrower-than-normal eyes, leading to his choice of the term "Mongoloid" to describe them as a group. Asian researchers began pressing for that word to be dropped in the 1960s, and "Down/Down's syndrome" was used instead.

Keep in mind that scientists like Down also used the words "idiot," "imbecile" and "cretin" in a wholly factual way. To put all those words in context, here is an excerpt from Down's first paper on these children, "Observations on an Ethnic Classification of Idiots" -- which wasn't meant as a medical paper at all, but a scientific approach to the question whether race rigidly divides the human species:

The great Mongolian family has numerous representatives, and it is to this division, I wish, in this paper, to call special attention. A very large number of congenital idiots are typical Mongols. So marked is this, that when placed side by side, it is difficult to believe that the specimens compared are not children of the same parents.....

The hair is not black, as in the real Mongol, but of a brownish colour, straight and scanty. The face is flat and broad, and destitute of prominence. The cheeks are roundish, and extended laterally. The eyes are obliquely placed, and the internal canthi more than normally distant from one another. The palpebral fissure is very narrow. The forehead is wrinkled transversely from the constant assistance which the levatores palpebrarum derive from the occipito-frontalis muscle in the opening of the eyes. The lips are large and thick with transverse fissures. The tongue is long, thick, and is much roughened. The nose is small. The skin has a slight dirty yellowish tinge, and is deficient in elasticity, giving the appearance of being too large for the body....

They have considerable power of imitation, even bordering on being mimics. They are humorous, and a lively sense of the ridiculous often colours their mimicry. This faculty of imitation may be cultivated to a very great extent, and a practical direction given to the results obtained. They are usually able to speak; the speech is thick and indistinct, but may be improved very greatly by a well-directed scheme of tongue gymnastics. The co-ordinating faculty is abnormal, but not so defective that it cannot be greatly strengthened. By systematic training, considerable manipulative power may be obtained....

If these great racial divisions are fixed and definite, how comes it that disease is able to break down the barrier, and to simulate so closely the features of the members of another division. I cannot but think that the observations which I have recorded, are indications that the differences in the races are not specific but variable.

These examples of the result of degeneracy among mankind, appear to me to furnish some arguments in favour of the unity of the human species.

As more and more came to be understood about the role of genes and chromosomes in the 20th century, scientists began to speculate that Down's syndrome was chromosomal in nature. This was confirmed in 1959 independently by Jerome Lejeune and Patricia Jacobs, who identified a third copy of the 21st chromosome as the cause and introducing another name for the syndrome, trisomy 21.

Pessimistic Views' WU has quite rightly replaced mine, but it leaves out some bits and pieces that might be of use/interest. So here they are.

Down's Syndrome is often still called Mongolism, although this is no longer considered politically correct.

Trisomy 22 is also sometimes called Down Syndrome, although perhaps incorrectly.

If you're in the UK, you will most likely hear it called 'Down's Syndrome', or simply 'Down's'. 'Down Syndrome' is the US term.

My best estimate is that Trisomy 21 accounts for about 20% of all cases of mental retardation. I did the math myself, based on (sound) estimates of the 'number of mentally disabled in the US' against the 'number with Down Syndrome in the US'. I would like a more certain number, if anyone has it.

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This WU may be deleted if the information in it is assimilated.