Down Syndrome

Down syndrome

Down syndrome takes its name from Dr. Langdon Down. He was the first person to describe the syndrome in 1866. The earliest recorded incident of someone having Down syndrome dates back to an altar piece painted in a church in Aachen, Germany in 1504. Although the syndrome is named after Dr Langdon Down, he did not understand the condition, as we know it today. The syndrome was referred to as having mongolism. This was because people who have Down syndrome have similar physical characteristics to those people of oriental heritage.

The diagnosis of the syndrome can be made shortly after birth. Most parents who find out their child has it have conflicting emotions. These can include shock, feelings of disbelief, feelings of sorrow, guilt and feelings of embarrassment. In the past, most babies who had Down syndrome were put into an institution. Today the trend is to keep the child at home and have the child became a functioning member of society. Having a handicapped child can cause great stress. There is also a problem of explaining the condition to the other siblings. Down syndrome should not be explained to the other siblings as an illness. They should be told the child has a handicap. Parents should also be careful not to spend all their time with the child that has Down syndrome and spend equal time with all their children. Other relatives and friends should be told as soon as possible. It will normally make other people uncomfortable. They may not understand what the parent is feeling and say inappropriate things.

Down syndrome is one of the most common chromomal defects. It occurs in about 1 out of 800 births. The probability of having a child with Down syndrome increases with the mother's age. The rate for women in their twenties is about 1 in 2000 births. This number increases dramatically for a women in her forties to about 1 in 100. The cause of Down syndrome is an extra chromosome. In 95 percent of the cases, the child has three instead of two chromosomes on the 21 chromosome. There is a test called amniocentesis that can tell the mother if her child will have Down syndrome. Amniocentesis involves inserting a needle into the amniotic sac to withdraw a small about of the amniotic fluid. The cells in the fluid are then analyzed to see if the child has Down syndrome. There is small risk of a miscarriage or infection to the uterus. Women over the age of thirty-five are encouraged to take the test. Down syndrome is the most prevalent chromosomal disorder. There are slightly more boys born with the syndrome than girls. It is also seen in all ethnic groups.

In most cases, the doctor will be able to recognize if the child has Down syndrome right after birth. They are mostly able to tell by the child's appreance. There are certain features that some, but not all Down syndrome children have.

1. The child with Down syndrome usually has a rounded face.

2. The back of the head is slightly flattened.

3. The eyes of nearly all children and adults with the syndrome slant slightly upwards. There is also a small fold of skin that runs between the inner corner of the eye and the nose.

4. The mouth is smaller than average and the tongue is larger.

5. The hands tend to be board with short fingers. The little finger sometimes has only one joint instead of two.

6. The feet tend to be stubby and have a wide gap between the first and second toes.

7. Children with Down syndrome usually weigh less than average at birth. They are normally shorter than other children and tend to be overweight.

8. They have flabby muscle tone and poor coordination due to less control over the motor nerves.

9. About one third of children born with Down syndrome will be having a heart abnormality. The most common being atrioventricular septal defect. This is when there is a hole between the two atria. About one in six children will have this abnormality.

10. Children also have vision problems such as crossed eyes and near or farsightedness.

11. There is also a problem of the child having hearing loss that can result in speech problems.

12. In children with Downs, there is a high rate of Leukemia.

Although all children with Down syndrome have the extra portion of chromosome 21 in their cells, there are three forms of the syndrome. The vast majority with Down syndrome about 95 percent have Trisomy 21. It results from one of the parents giving two number 21 chromosomes, rather than one. In about 4 percent of the cases, there is translocation. This is due to an extra part, rather than the whole chromosome21. Children with translocation normally do not have such severe Downs as do children with Trisomy 21. The third kind of Downs syndrome is called Mosaicism. This occurs in about