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Down syndrome

Also known as: Down's syndrome, Trisomy 21

Background

In the UK, around 1 in every 1,000 babies is born with Down syndrome. Anyone can have a baby with Down syndrome and in most families it appears to be a chance occurrence. The condition was first described by Dr John Langdon Down in 1862.

Credits

Medical text written December 2011 by Dr Kath Leyland and Dr Jennifer Dennis. Down Syndrome Medical Interest Group, UK.

What are the symptoms?

There is no such thing as a typical person with Down syndrome. They do share some features but like all people they vary a lot in appearance, personality and ability. Nearly all those with the syndrome have learning difficulties (see entry Learning Disability). Some have more serious difficulties than others. It is hard to tell as babies how much they will be affected as they get older. Many children cope well with mainstream school albeit with extra support. Many adults work and some live fairly independent lives. However, most people with Down syndrome need some long-term help and support.

A number of health problems are linked to Down syndrome, including heart problems (see entry Heart Defects), thyroid problems (see entry Thyroid disorders) and reduced vision and hearing. People vary and many enjoy good health.

Most people with Down syndrome live to be 50 years of age and some live to be over 70. Alzheimer's disease (a form of dementia) affects some people with Down syndrome at an earlier age than is usual.

What are the causes?

Every cell in the body contains 46 chromosomes. These are inherited from our parents and carry the genes which influence what we look like and how we develop. These are arranged as 23 identical pairs. When the body produces the sperm and ova (eggs) to make babies the chromosome pairs divide and rearrange themselves. However, sometimes they do not divide correctly and the baby is born with an extra copy of chromosome 21 in some or all cells. This error arises spontaneously and is not caused by anything parents have or have not done. It does however occur more frequently among older mothers. It is not known why the extra chromosome has such an effect on development, but researchers continue to try to unravel the changes in body chemistry which may underlie this.

How is it diagnosed?

Features suggestive of Down syndrome are usually recognised at or shortly after birth. The diagnosis is confirmed by a blood test to examine the chromosomes (karotyping).

How is it treated?

Most of the associated health problems with Down Syndrome can be treated. The schedule of health checks suggested by the Down Syndrome Medical Interest Group (see Personal Child Health Record Down syndrome insert) can be followed to ensure that problems are identified and treated early. A child with Down syndrome should be supported by a multiprofessional team to ensure his/her health, education and social care needs are met. Local arrangements vary in how this is organised.

Inheritance patterns and prenatal diagnosis

Inheritance patterns
In most instances there is no previous family history. For the majority there is a small risk of recurrence. However in a small number of cases the chromosome tests show a higher risk of recurrence and genetic counselling is needed.

Prenatal diagnosis
In the UK screening for Down syndrome is routinely offered to all women during pregnancy to identify those who are at high risk of having a child with the syndrome. If further more detailed testing confirms that the baby has Down syndrome, information and counselling is available.

Is there support?

Down's Syndrome Association

Tel: 0333 1212 300
Email: info@downs-syndrome.org.uk
www.downs-syndrome.org.uk

The Association is a Registered Charity in England and Wales No. 1061474. It provides information and support to people with Down Syndrome and their families, carers and professionals across the UK. 

Group details last updated December 2014.

Down Syndrome Education Online

Email: via website
www.down-syndrome.org

The Organisation is a Registered Charity in England and Wales No. 1062823, established in 1979. It undertakes innovative research, provides expert advice and support, publishes information resources and provides hands-on services to deliver real benefits to the lives of people with Down's syndrome in the UK and worldwide.

Group details last confirmed October 2015.

Down Syndrome Medical Interest Group UK

Email: via website
www.dsmig.org.uk

The Group is a network of healthcare professionals with a specialist interest in Down's syndrome, established in 1996. Its website provides information for health professionals on best practice medical care. It also highlights information which is particularly parent/carer friendly.

Group details last confirmed October 2015.

Down's Syndrome Scotland

Tel: 0131 313 4225
Email: info@dsscotland.org.uk
www.dsscotland.org.uk

The Organisation is a Registered Charity in Scotland No. SC011012. It provides information and support for people in Scotland with Down's syndrome and their families, carers and professionals. The Organisation has local branches that hold local activity groups.

Group details last updated December 2014.

Down's Heart Group

Tel: 0300 102 1644
Email: info@dhg.org.uk
www.dhg.org.uk

The Group is a Registered Charity in England and Wales No. 1011413.  It provides information and support to parents and professionals on heart conditions associated with Down's Syndrome. 

Group details last updated January 2016.

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