What is Down syndrome?

Down syndrome is a genetic condition. It’s also called Trisomy 21.

Down syndrome happens when there are 47 chromosomes in a baby’s cells instead of the usual 46. It affects about 1 in every 1100 babies and causes a range of physical and developmental difficulties as well as intellectual disability.

Although we know how Down syndrome happens, we don’t know why. Usually the change to a baby’s chromosomes is there from the moment the baby is conceived. Down syndrome can affect all ethnic and cultural groups and children born to parents of all ages.

Most babies born with Down syndrome grow up to lead happy, healthy and productive lives. Some children and teenagers with Down syndrome need only a little bit of help as they develop, and others need more support.

Screening for 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 looks at a blood test from you and a measurement from your 12-week ultrasound scan.
• Second trimester maternal serum screening test: you can have this blood test if you haven’t had the first trimester screening test.

Screening tests for Down syndrome might take your age into account. This is because the chance of having a baby with Down syndrome increases as you get older.

For Down syndrome, at:

• 20-29 years, the chance is less than 1 in 1000
• 30 years, the chance is 1 in 890
• 35 years, the chance is 1 in 355
• 37 years, the chance is 1 in 220
• 40 years, the chance is 1 in 90
• 45 years, the chance is 1 in 28.

Diagnosing Down syndrome

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 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.

Common features of Down syndrome

Children and teenagers with Down syndrome share physical features with other people who have Down syndrome, but they also look like their family members.

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

Children and teenagers 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 and teenagers 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 your love, responsiveness and stimulation are the most important influences on development in childhood and adolescence. 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, get 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

Getting specialised help as early as possible after diagnosis is the best way to support your child’s development. This is called early intervention.

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 occupational therapists, paediatricians, physiotherapists, psychologists, special education teachers and speech pathologists.

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 and teenagers with Down syndrome

If your child has a confirmed diagnosis of Down syndrome, your child can get support from 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

If you’re told that your unborn or new baby has Down syndrome, information and support early can be a big help. A good place to start is Down Syndrome Australia, which has branches in all states and territories.

And although you’re probably busy looking after your child, it’s important to look after yourself physically, mentally and emotionally 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.