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What Is Down Syndrome: Facts and Symptoms
What is Down Syndrome?
Down syndrome statistics
Down Syndrome is a genetic condition that slows down mental and physical development. Statistics from the National Association for Down syndrome shows that one child out of every 691 is born with the condition.
According to the book: Babies with Down syndrome, a New Parents’ Guide – 1 in every 733 babies in the US are born with the condition.
Down Syndrome babies
Normal babies are born with 46 chromosomes (an organized structure of DNA and protein that is found in cells) whereas down syndrome babaies born with 47. It is the most common chromosomal condition or disorder to date.
It is usually diagnosed shortly after the baby is born, in most cases in the hospital. If your baby was not born in a hospital you should take your baby immediately to the doctor or hospital to be checked out. There are signs that tell you that your child may have the extra chromosome.
Even though there are physical characteristics that may tell if a child is born with the condition a chromosome studies called a keratype , will have to be done to give a definitive diagnosis.
Symptoms of Down Syndrome
Some of the physical signs and symptoms of down syndrome that will alert you to this condition are:
- Low muscle tone also known as hypotonia . The muscle will feel floppy and look relaxed. All the muscles in the body will be affected. This is one of the features in newborns that usually alert doctors to check for Down syndrome.
- The Face: The baby’s face might be a bit broader than usual and the nose bridge flat. Down syndrome babies usually have smaller noses than regular children. The eyes may be crossed or slanted upward (upslanting palpebral fissures ). They may also have small folds of skin at the inner corners of the eyes, these are called epicanthal folds . The irises may have light spots call brushfield spots . They do not affect the baby’s sight. A small mouth may indicate Down syndrome and the roof of the mouth may be shallow. If the baby has low muscle tone along with the small mouth and shallow roof the tongue may be protruded and seem too large for the mouth. The teeth of the baby may be late in growing and when this happens they may appear scattered and pointy. The ears of the baby may be small and the tops may fold over. Sometimes there are no earlobes or they are very tiny. The ear canal may also be small but improves with the baby’s growth.
- The head of the child may be smaller than usual and the neck shorter and fatter. There may be loose folds of skin at the nape but these usually disappear with growth.
- The size and length of the baby will be as other children but they do not develop as fast as other children do. Doctors will monitor your child’s growth and weight to make sure they are gaining weight and growing the way they should.
- The hands might be smaller and fingers shorter but the feet are usually normal, but there might be a gap between the first and second toes.
Other physical symptoms may be a funnel shaped chest, sensitive skin, mottled skin, thin soft hair which may fall out in some places.
The only feature however that affects the baby’s physical development is the low muscle tone of the child. The child will need to undergo a series of therapies to assist with development as there will be a degree of intellectual disability.
To help your child integrate into society there are treatments available that will assist with cognition, speech and movement.
If you know a child with Down Syndrome or have one of your own, don’t keep them from society. Let them be a part of the normal school system or activities. It is known that children with disabilities develop faster if they are treated as equals to other children.
Give them love and attention, teach them the same things that you would a normal child and watch them develop into amazing adults. They may be slower at it but when they achieve something it is amazing to them and must be to you too.
Keep your Down Syndrome baby, you will be happier for it.
Not all of these defects will affect every child.
Down Syndrome Diagnosis
In recent years there has been advancement in detection such as detecting prenatally. Women can now know before their baby is born if their child has the disorder. There are two tests that have been developed to tell whether your baby will be born with Down syndrome or not.
- The Screening test which will assess or estimate the risk of your baby being born with Down Syndrome. It is not a definitive test. This is called a Triple Screen and combines three tests. There are substances in the blood which are screened for between the first fifteen and twenty weeks of pregnancy. An ultrasound is also done to see if there are any unusual physical characteristics of the fetus that might determine Down Syndrome. These tests are not 100% accurate and frequent false diagnosis occurs.
There are also three diagnostic tests. (1) First is the Chorionic Villus Sampling where a needle or catheter is used to collect samples from the placenta for biopsy to determine if there is any change of genetic disorder. This is especially true if you have a family history of genetic diseases. This test is done between 8 and 12 weeks of being pregnant. (2) Between twelve and twenty weeks into the pregnancy an Amniocentesis is performed. This is where the amniotic fluids are tested for chromosomal defects. (3) Next is the Percutaneous Umbilical Blood Sampling (PUBS) which is done after 20 weeks into your pregnancy. A sample of the baby’s blood is taken from the umbilical cord with a thin needle via the abdomen of mommy. The diagnostic tests are more definitive and usually very accurate.
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