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Down Syndrome

A classic image of a person with Down Syndrome
image: Down Syndrome NSW

What is Down Syndrome? Down Syndrome actually comprises a few related genetic conditions. But most commonly it is related to having an extra chromosome number 21. Normally each cell has only a pair of chromosome number 21. The extra chromosome often comes from the mother's egg. Typical physical charactersitics of Down syndrome include: a single crease across one or both palms, (simian crease) upslanted eyes, shorter limbs, heart and/or gastroesophageal defects. more prone to recurrent ear infections and obstructive sleep apnea. These features can sometimes show in people with a standard set of chromosomes. Reference: Wikipedia - Down Syndrome

The word "Down Syndrome" was used originally by the UK Medical journal the Lancet. The condition is named after doctor John Langdon Down, the first physician to describe the syndrome . source: National Institute of Child Health and Human Development Did you know... The abilities of people with Down Syndrome can vary considerably. There are some who have attained college degrees. With the right support many can contribute positively.

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Why is Down Syndrome important Biologically it is important Down Syndrome is one of the most common genetic causes of mild to severe mental retardation. It occurs in about 1 in 600) births in a wide range of races and socio-economic areas. Down Syndrome is most associated with the increase in age of the maternal parents. Typically the older the mother is over 30 the greater chance of the child having Down Syndrome. The genetics of Down Syndrome may also give us clues to the biological basis of some to Alzheimers conditions. Although this is still being researched. Socially and culturally it is important People with the syndrome are afforded the same basic human rights and dignity as other people. There are many people with Down Syndrome that contribute in positive and constructive ways to society.

A Karyotype showing human chromosome laid out including an extra chromosome number 21 image:Genetics Utah

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News about Down Syndrome. News related to Down Syndrome is often related to either basic research or about support groups for people either with the condition or people caring for those with the condition. Here are some of the latest news headlines from around the world Google News Search for Down Syndrome.

Some reliable and quality assured sources of general info About Down Syndrome. Australia: Down Syndrome Association of NSW Australia US: National Institute of Child Health and Human Development US National Down Syndrome Society Canada Canadian Down Syndrome Society UK/Europe: Down's Syndrome Association (UK)

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How is Down Syndrome classified? Down syndrome can be classified in 3 main forms: trisomy 21 THis is when every cell in the person's body has an extra chromosome number 21. mosaic trisomy 21 This is when only a few cells in the body have the extra chromosome. translocation trisomy 21 This is when bits or parts of chromosome 21 have translocated onto other chromosomes.   What does an extra chromosome do? Extra chromosomes means that there are extra genes producing extra enzymes and proteins. It is thought that genes that control certain enzymes in the brain are affected. The extra genes also cause other physical problems. For a more detailed collection of genes please see http://www.ds-health.com/trisomy.htm

How is Down Syndrome diagnosed before birth? There are basically 3 methods used: amniocentesis - taking a small sample of fluid from the womb (14th-18th week of pregnancy chorionic villus sampling (CVS) - a tiny sample of fetal tissue is taken at 9-11 weeks. percutaneous umbilical blood sampling (PUBS) - another test but with a higher risk of miscarriage. How is Down Syndrome treated? The actual syndrome itself can't be treated but rather the specific associated diseases can be managed to a certain extent. Diseases Associated with Down Syndrome from WebMD Merck Reference: Down Syndrome

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What is the history of Down Syndrome? Down syndrome has probably been around for as long as humans have been evolving. In fact trisomy 21 may have been a problem for primates for around 30-50 million years reference: Chromosome Res. 1998 Jun;6(4):263-8. It was first in the 1930s that Waardenburg and Bleyer suggested that it might be due to chromosomal abnormalities. In 1959 Jerome Lejeune and Patricia Jacobs, independently discovered the cause to be trisomy (triplication) of the 21st chromosome. Over the next three years other types of Down Syndrome due to translocation and were described. reference: Len Leshin, MD, FAAP DS-health.com

Down Syndrome was first described clincally by John Langdon Down in the British Medical Journal The Lancet in 1961. The condition before this was refered to as Mongolism (due to a similarity in some appearance with Mongoloid features) but this was considered offensive. The Government of Mongolia told the World Health Organisation in 1965 that they thought the descriptive term 'Mongolian Idiot' was derogatory to them. Down Syndrome was adopted as an official term for the condition. Further reference: down-syndrome.info

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The future of Down Syndrome What are the prospects for Down Syndrome in the future? For example will gene technology be able to determine if there are extra chromosomes in a egg or sperm before they are joined? It may be possible to use a form off gene therapy to change or modify the extra genes, for example being able to turn off excessive genes.

Another possibility is the creation of specially design drugs that can target the the various enzymes or genes that cause some of the symptoms especially those that affects the brain.

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Although every care has been taken to make this site useful, this site does not provide health advice. You should consult your doctor for health advice specific to you.