MEDIA BRIEFING
About Down syndrome
Down syndrome is a condition that results from extra copies of genetic material
present from conception
Most people with Down syndrome have a complete additional copy of chromosome 21
in every cell in their body (trisomy 21). Around 4% of individuals with
Down syndrome have additional copies of part of chromosome 21 in every cell (translocation
Down syndrome). Around 2% of observed cases of Down syndrome have additional
genetic material in only some of their cells (mosaic Down syndrome).
Many babies with Down syndrome are born every year
It is sometimes thought that Down syndrome is a 'problem' that has been
'fixed' by the availability of prenatal screening. This is not true. Not
all families choose testing and not all choose termination when Down syndrome is
identified. As any babies are being born today in the United Kingdom (around 800)
as were being born 20 years ago. Down syndrome occurs at the rate of around 1 in
700 to 1 in 900 live births across the Western world.
There are more people alive with Down syndrome today than ever before
Improved access to appropriate and knowledgeable healthcare has dramatically improved
life expectancy for people with Down syndrome from 12 years in 1950 to 60 years
today in developed countries. There are now over 30,000 people with Down syndrome
in the United Kingdom, 200,000 in Western Europe, 300,000 in the USA and more than
2,000,000 worldwide.
Down syndrome is associated with specific developmental difficulties and medical
issues
Health issues that are more common among people with Down syndrome include congenital
heart defects, hearing loss, long and short sightedness, thyroid disorders, leukaemia,
increased susceptibility to infections and early onset Alzheimer-type dementia.
Most people with Down syndrome today experience varying degrees of learning difficulties
with particular difficulties in areas of language and verbal working memory.
History of Down syndrome
It is almost certain that there have always been people with Down syndrome. Children
with Down syndrome are seen in pictures from 1505. However, the first person to
recognise Down syndrome as an entity was Dr John Langdon Down (1828-1896), an English
physician working in Surrey. The syndrome therefore bears his name. However, Dr
Down did not have the syndrome nor did he own it, so the preferred term today in
most English speaking countries is Down syndrome (rather than Down's
syndrome).
Further information
For further information about the work of Down Syndrome Education International, please
refer to our web site:
Press contacts
email press@downsed.org
tel +44 (0)23 9285 5339
fax +44 (0)23 9285 5320