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. 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 grow up to lead happy, healthy and productive lives. Some children need only a little bit of help, and others need more support.

Screening and diagnosing Down syndrome

You can 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 the following:

• 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.
• Second trimester maternal serum screening test: you can do this blood test if you haven’t had the first trimester screening test.

Depending on the results of screening tests, you might want to have diagnostic testing. Diagnostic testing can confirm whether your baby has Down syndrome.

Diagnostic tests include chorionic villus sampling (CVS) and amniocentesis. Both of these tests are very accurate, but they also have some risks. And even if the tests say your child has Down syndrome, they can’t tell you how the condition will affect your child. You can talk to your doctor or midwife to get more information about these tests.

Down syndrome can also be diagnosed at birth because there are key physical features that your doctor can see. If the doctor thinks your baby has Down syndrome, the doctor will confirm this by giving your baby a blood test or a saliva test.

Screening tests for Down syndrome will take age into account. This is because the chance of having a baby with Down syndrome and certain other chromosomal conditions increases as birthing mothers get older.

Common features of Down syndrome

Children with Down syndrome share physical features with other children with Down syndrome, but they also look like their family members.

All children with Down syndrome have some intellectual disability. It can range from quite mild to more severe. It means some delay in development and some learning difficulties.

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 children with Down syndrome

You can expect that the key milestones – like walking, talking and crawling – will probably be slower to come for your child with Down syndrome.

But as with any other child, your love and stimulation are the most important influences on your child’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 with you can help your child a lot.

With family and community support, your child with Down syndrome can grow up to live in the community, have a job and have 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 for children with Down syndrome

Early intervention is the best way to support your child’s development. Early intervention includes therapies, education and other supports that will help your child reach their full potential. It should also include helping you learn how to spend time with your child in ways that support their development.

You and your child will probably work with many health and other professionals as part of your child’s early intervention. These professionals might include paediatricians, physiotherapists, occupational therapists, speech pathologists, special education teachers and psychologists.

It’s good to see yourself as working in partnership with your child’s professionals. When you combine your deep knowledge of your child with the professionals’ expertise, you’re more likely to get the best outcomes for your child.

Financial support for children with Down syndrome

If your child has a confirmed diagnosis of Down syndrome, your child can get support under the National Disability Insurance Scheme (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.

Looking after yourself and your family

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 Down Syndrome Australia, which has branches in all states and territories.

And although it’s easy to get caught up in looking after your child, it’s important to look after your own wellbeing too. If you take care of yourself, you’ll be better able to care for your child. Talking to other parents can be a great way to get support for yourself. You can connect with other parents in similar situations by joining a face-to-face or an online support group.

If you have other children, they might have a range of feelings about having a sibling with disability. They need to feel that they’re just as important to you as your child with disability – that you care about them and what they’re going through. It’s important to talk with your other children, spend time with them, and find the right sibling support for them.