Down Syndrome

Description

Down Syndrome is a birth disorder in which the baby has an extra copy of chromosome 21.  The chances of giving birth to a baby with Down Syndrome increase sharply with maternal age, particularly when the mother is over 35.

There are three main types:

• trisomy 21 (the most common type): there is an extra chromosome 21 in every cell 
• translocation: an extra part of chromosome 21 is attached  to another chromosome in every cell
• mosaicism: some cells have an extra chromosome 21 attached, while others are normal.

Babies with Down Syndrome have distinctive physical features, including a slightly flattened face, eyes slanting upwards, and slightly smaller ears, hands and feet. They usually have some degree of intellectual impairment, and may be developmentally delayed. They frequently have other health problems, such as hearing or vision disorders; hypothyroidism; or skeletal, intestinal or heart defects.

Treatment

While there is no treatment for the chromosomal abnormality causing Down Syndrome, early diagnosis and treatment of any allied health problems improve the person’s life expectancy and quality of life.

Early intervention programs by health care professionals (e.g. physiotherapy, speech therapy) and special education programs assist children to achieve their potential to lead full, productive lives.

Prognosis

With improved medical care, the life expectancy of people with Down syndrome has increased and the majority now live past the age of 55.

Further Information and Support

# Down Syndrome Association of NSW
31 O’Connell St, Parramatta NSW 2150  Phone (02) 9683 4333
http://members.iinet.net.au/~dsansw/

# Down Syndrome Association of Victoria Inc
495 High Street, Northcote, VIC, Australia 3070   Phone (03) 9486 2377
http://www.dsav.asn.au

# ACT Down Syndrome Association
PO Box 717, Mawson ACT 2607    Phone/Fax (02) 6290 0656
http://www.actdsa.asn.au

# Down Syndrome Association of Queensland
282 Stafford Road, Stafford  QLD 4053   Phone (07) 3356 6655
http://dsaq.org.au

# Down Syndrome Association of South Australia Inc
24 Harrow Avenue, Magill SA 5072   Phone (08) 8365 3510
http://www.downssa.asn.au

# Down Syndrome Association of Western Australia
4/1136 Albany Highway Bentley WA 6102   Phone (08) 9358 3544
http://www.dsawa.asn.au

Information

# The National Down Syndrome Society (USA)
http://www.ndss.org

# Medline Plus Health Information – Down Syndrome (USA)
http://www.nlm.nih.gov/medlineplus/downsyndrome.html

Date created: 11 June 2003
Reviewed by Professor Kathryn North, MD, FRACP, Professor, Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney and Head, Neurogenetics Research Unit, The Children's Hospital at Westmead, Australia