Last updated:09-05-2008
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Definition and causes

Downs syndrome, also known as mongolisme, is the most common variation in chromosome formation. There is a chromosome too much (an extra copy of chromosome 21), so that each cell in the body has 47 chromosomes instead of the normal 46. That means that children with Down's syndrome have distinctive physical features, general learning and is mentally handicapped. Approximately 1 in 1000 will be born with Downs.

There is a link between maternal age and the risk of having a child with Down's, so that the older the mother is the higher the risk. A 20-year-old woman who give birth have a risk of 1 in 1500, while a woman of 40 has a risk of 1 in 100.

In addition, research suggests that the fejlkopieringen of the extra chromosome 21 before fertilization, and it is the woman's egg, which is usually fejldelt. Fejldelingsprocenten is also higher the older the woman is.

Symptoms of Downs Syndrome (Mongolisme)

Children with Down's have some characteristic physical features of the birth. The extent of the features is different from child to child:

  • For premature birth - low birth weight

  • Muskelslaphed (hypotonia)

  • Wide saddelformet nose

  • Large heavy

  • Wide face and flat baghoved

  • Nakkehuden (nakkefolden) is ample

  • A fold in the inner øjenkrog (epicanthus) and slant eyes

  • Short, broad hands and short fingers very moving

  • Firfingerfure, ie. a groove the palm of the hand, which extends over the entire håndfladen

  • Lillefingeren are often bent in towards the other fingers

  • The arms and legs have a greater movement than in normal children

Downs children are slow to learn to walk and talk, and ability to learn varies from mild to severe difficulties problems. Children are usually happy and loving.

Complications of Downs Syndrome (Mongolisme)

Approximately every third child with Down's have a congenital heart disease . As a rule hole in the wall between the two hjertekamre and the problems arising. Misdannelser in the digestive also appears in the form of constrictions and blockages. Ear and eye infections are common, and there is an increased tendency to develop acute myeloid leukemia (blood cancer) .

Diagnosis of Downs Syndrome (Mongolisme)

The risk of Down's syndrome can be calculated relative early pregnancy through special tests during pregnancy . This is done by using the Double-test and a nakkefoldsskanning. Doubletesten is a blood test, which examines the two (double) substances produced by the placenta. The concentration of these substances is different about a pregnancy with a Down's child. Nakkefoldscanningen is a harmless ultralydskanning where you measure the thickness of the fetus nakkefold. There is a link between the thickness of the fold and Downs. Based on the information in the two tests, one can calculate the risk fairly accurate (you can fin

Doubletesten taken first. The test takes place between 8 weeks + 0 days and 13 weeks + 6 days from last menstruations first day. Nakkefoldskanning happening, when between 11 weeks + 3 days and 13 weeks + 6 days from last menstruations first day.

If Doubletesten with or without nakkefoldsskanning shows a relatively high risikotal, should the pregnant and the father in consultation with the doctor / midwife consider to have made placenta or fostervandsprøve.

Down syndrome can not always diagnosed before birth. There is it necessary to establish the diagnosis using the characteristic physical features and a blood sample to a chromosome analysis.

Consideration of Downs Syndrome (Mongolisme)

There is no specific treatment for Down's syndrome. Specialized care both physically and mentally may be necessary, and it is certain that any complications are treated with the standard treatment.

Forecast of Downs Syndrome (Mongolisme)

Many children with Down syndrome live a rich and happy life. Along with improved teaching methods and education, some both learn to read and write and can even work later in life. Many survive to 40-50 years of age, but there are 1 out of 5 who die in childhood because of complications.



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