Wednesday, 8 August 2012

Synthesis of Down Syndrome


Down syndrome or trisomy 21 is what was once called "mongolism". Today the term is removed from our vocabulary because of its pejorative connotations.


In 1866, Dr. Langdon Down, was the first to describe some of the traits of people, hence its name. He found some features resembling the Mongolian (Mongolia capita). Thus the term was introduced into our vocabulary.

Then in 1959, Dr. Jerome Lejeune discovered that the "problem" was located at chromosome distribution. He could see that on the 21st pair, there was an additional chromosome, which is what had unbalanced the cellular system. That's why we call it as trisomy 21. Trisomy for chromosome three and 21 for the 21st pair.


The most common trisomy is trisomy 21, but there are others such as trisomy 5 (cat cry) 13 and 18. Trisomies 13 and 18, although rare, can be severe and cause health problems and birth accompanied by intellectual impairment from mild to severe. Usually, these children are not viable, if they live, they are met.

One thing that is important to remember: Trisomy is not a disease but a condition.


A child called "normal" has 40 billion cells, in children with DS is 1/3 less.

People with Down syndrome, are always affected the intellectual level.

These children can learn to speak, to function almost normally. However, they do so more slowly than others (depending on the level of achievement of course). They need coaching rather long but most can achieve independent living without outside help. The big change was the acceptance by our society, but there is still much to do ...

  1. Delay on the physical;
  2. A stocky stature and corpulent;
  3. Low muscle tone;
  4. Round face, back of the head flattened;
  5. Fingers of the hands and feet short;
  6. Little fingers often curved;
  7. Neck a little shorter;
  8. Small ears;
  9. Straight hair and thin;
  10. Skin that wrinkle easily;
  11. Slanting eyes, lower eyelids wide;
  12. Chapped lips apart more easily;
  13. Smaller teeth, pushing late and may be misplaced.

With good early sensory stimulation, specific exercises (crude and refined motor activities), training for language acquisition, all combined, contributes greatly to improving their living conditions.


Further details (other than the apparent features) can come to confirm the diagnosis of trisomy 21.

As we know, at birth the baby is often the puffy face, so if there is any doubt from the doctor, it can be seen in the iris of the eye if there are small deposits as salt, kinds of "spots", Brochu particles, it allows the physician direction for sure.

Following the reports of particles requires that the medical checks at the possibilities of organic complications.

There could be a blockage in the intestine (which there is difficulty in digestion).

In some cases, the operation should be performed fairly quickly after birth because the child's life could be in danger. Often, the operation is not necessary, the child will suffer constipation problems.

Another organ that may be affected quite frequently is the heart.

The heart defect may be corrected by surgery.

From the first days of life problems may also occur with the vessels of the lungs. They have difficulty to open. This is called pulmonary hypertension.

The immune system is weak. So children are very vulnerable to all infections especially bronchitis, pneumonia, otitis, sinusitis, tonsillitis etc. ... This required several hospitalizations.

When the team of Dr. Jerome Lejeune discovered that the problem was at the distribution of chromosomes, researchers have abandoned the search for lack of money and / or enthusiasm. However, these children deserve and deserve a better quality of life. This is why a pediatrician Sherbrooke has studied the issue and has directed his research towards the so-called non-traditional medicine.

Most of our children attend the program of trace elements. These substances are essential for healthy and harmonious development.

These trace elements are helping their muscle tone to firm, also stimulates their intellect and reduces the risk of infections, so there is less hospitalization. Through this program and the progress of science, the quality of life and hope of longevity are greatly enhanced.

And picking up bottle openers, bread clips and plastic caps, the Down Syndrome Association helps parents defray the purchase cost of trace elements. It costs $ 250 per year, per child, to our association for each child. With the help of all of you, the association will continue to help these parents, but mostly you will help provide a better quality of life for our children!


Physical needs of these children are the same except that all children need to stimulate more. There is a method of stimulating intensive method called Philadelphia. Parents can refer to it and take the exercises that they feel comfortable. A method that resembles the method Philadelphia, but it less thorough method AND (Toronto).

Many of our children will need services in occupational therapy, physiotherapy and speech therapy. These services are provided by specialized centers such as the Rehabilitation Center Townships.

However, what is more important for these children is their acceptance in our society! They can do many things if they are given the chance!

They can teach us so much, if we take the time to look, listen, to love them!

It should provide an opportunity for children and adults with Down syndrome show us what they can do!


(Study made by Mr. Siegfried M. Pueschel, MD, Ph.D. and director of "Child Development Center", on children with Down syndrome.)
  1. 12% of babies born with intestinal problems 40 to 50% of babies born with heart defects;
  2. 3% of babies born with congenital cataracts;
  3. 60 to 80% of babies are born with a hearing impairment;
  4. 70% of children have a visual refraction (nearsightedness or farsightedness);
  5. (About 30% of these children suffer from strabismus and about 15% of eyes blink).

Many children suffer from hypo or hyper thyroiditis.
On 400 young, 12 to 14% with atlantoaxial instability? (Cervical vertebrae).

What is atlantoaxial instability?

The first two cervical vertebrae may be unstable because the ligaments holding the second vertebra are very loose. When the second vertebra has a backswing, it can cause pressure on the spinal cord and cause serious neurological problems. It is strongly recommended radiographs of the cervical region at the age of two to three years and then again every three to five years.

The organization "Special Olympics" made the recommendation that children with Down syndrome are not of "flips", barrels, diving, butterflies and other similar activities.

After listing the "problems" that the child may have Down syndrome, there is at least one point on which he is favored. The child with Down syndrome has fewer cavities! This is explained by the fact that the appearance of the teeth is often late and given that the teeth are smaller, so there is more space between them, so fewer bacteria that accumulate.

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