Down syndrome

Down syndrome

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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 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:

  • 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) and 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 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.

You can read more about antenatal tests for chromosomal abnormalities like Down syndrome.

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 means 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 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 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 choose therapy options 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.

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.

Talking to other parents can also 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, these siblings of children with disability need to feel that they're just as important to you - that you care about them and what they're going through. It's important to talk with them, spend time with them, and find the right support for them too.