What is Down syndrome?
Down syndrome is a genetic condition. It’s also called Trisomy 21.
Down syndrome happens when a child’s cells end up with 47 chromosomes in them instead of the usual 46. It affects about 1 in every 700-900 babies and causes a range of physical and developmental problems as well as intellectual disability.
Although we know how Down syndrome happens, we don’t know why. We do know it’s nobody’s fault. Often, the change to a baby’s cells happens at the moment when the baby is conceived. Down syndrome can affect all ethnic and cultural groups and children born to parents of all ages.
Most children born with Down syndrome will grow up to lead happy, healthy and productive lives. Some children will need only a little bit of help, and others will need more support.
Screening and diagnosing Down syndrome
Down syndrome can be diagnosed at birth because there are key physical features that your doctor can see. The doctor will confirm these observations by giving your baby a blood test.
You can also have tests during pregnancy to help you find out whether your baby has Down syndrome.
Screening tests give you information about how likely it is that your baby has Down syndrome, but these tests don’t give you a definite answer. Examples of screening tests include:
- non-invasive prenatal testing (NIPT): you give a small amount of blood, which is tested for parts of your baby’s DNA
- first trimester combined screening test: this combines a blood test from you with a measurement from your 12-week ultrasound scan.
Depending on the results of screening tests, you might want to have diagnostic testing. Diagnostic testing can tell you definitely whether your baby has Down syndrome.
Diagnostic tests include chorionic villus sampling (CVS) or amniocentesis Both of these tests are very accurate, but they also have some risks. And even if the tests say your child definitely has Down syndrome, they can’t tell you how the condition will affect your child in life. You can talk to your doctor or midwife to find out more.
Common features of Down syndrome
Children with Down syndrome share physical features with other children with Down syndrome, but they also look like their own family members.
Down syndrome is different for everyone affected, but all people with Down syndrome have some intellectual disability. It can range from quite mild to more severe.
For children with Down syndrome, intellectual disability will mean some delay in development and some learning difficulty.
People with Down syndrome might also have a range of medical and health conditions, so it’s important to have your child’s health checked regularly by health professionals.
Supporting your child with Down syndrome
You can expect that the key milestones – like walking, talking and crawling – will probably be slower to come for your baby with Down syndrome.
But as with any other baby, your love and stimulation are the most important influences on your baby’s development. Children learn the most from the people who care for them and with whom they spend most of their time, so everyday play and communication can help your child a lot.
With family and community support, your child with Down syndrome can grow up to be just like anyone else – living in the community, holding down a job and having good relationships with friends and family.
Regular health and development checks will help to spot any issues for your child. Talking to health professionals like your child and family health nurse or GP is also a good way to work out what help you and your child need.
Early intervention services for children with Down syndrome
Although there’s no cure for Down syndrome, early intervention can make a difference. Through early intervention services, you can work with health professionals to treat your child’s symptoms, support your child, improve outcomes for your child and help him reach his full potential.
The team of professionals involved in supporting you and your child might include paediatricians, physiotherapists, occupational therapists, speech pathologists, special education teachers and psychologists.
Together, you and your team can choose treatment and therapy options to best help your child.
Financial support for children with Down syndrome
If you live in a National Disability Insurance Scheme (NDIS) trial area and your child has a confirmed diagnosis of Down syndrome, your child can get support under the NDIS. The NDIS helps you get services and support in your community, and gives you funding for things like early intervention therapies or education support.
If you don’t live in one of the NDIS trial areas, your child can get funding under the Better Start for Children with Disability initiative. If your child is eligible for the NDIS, she’ll be moved over when it becomes available in your area. Read our NDIS and Better Start FAQs for more information.
Looking after yourself
Being told that your unborn or new baby has Down syndrome can be a big shock for you and your family and friends. If you need information and support, a good place to start is your state or territory Down syndrome association.
Down syndrome services and resources
Australian Capital Territory
ACT Down Syndrome Association
- Phone: (02) 6290 0656
- Email: firstname.lastname@example.org
New South Wales
Down Syndrome New South Wales
- Phone: (02) 9841 4444
- Email: email@example.com
Down Syndrome Association of the Northern Territory
- Phone: (08) 8985 6222
- Email: firstname.lastname@example.org
Down Syndrome Association of Queensland
- Phone: (07) 3356 6655
- Email: email@example.com
Down Syndrome South Australia
- Phone: (08) 8245 4600
- Email: firstname.lastname@example.org
- Phone: (08) 8367 8022
- Email: email@example.com
Down Syndrome Tasmania
- Phone: 1300 592 050
- Email: firstname.lastname@example.org
Down Syndrome Victoria
- Phone: 1300 658 873
- Email: email@example.com
Down Syndrome Western Australia
- Phone: 1800 623 544
- Email: firstname.lastname@example.org