Topic Library

Down syndrome

Your guide to Down syndrome.

Woman with Down syndrome working in a grocery store.

A diagnosis of Down syndrome might be overwhelming for some parents, but with the right health care and support from family and community, a person with Down syndrome can achieve their goals like anyone else, and live a fulfilling and enjoyable life.

What is Down syndrome?

Down syndrome is a genetic disorder that occurs when a baby is born with an extra copy of chromosome 21. Most people have 23 pairs of chromosomes in each of their cells (46 in total), but people with Down syndrome have 47 chromosomes in their cells, i.e. they have an extra chromosome 21. This extra copy changes how the baby’s body and brain develop, which may cause intellectual and learning disabilities as well as physical challenges for the person as they grow.

However, it’s important to note that: 

  • Down syndrome is a genetic condition
  • Down syndrome is not an illness or a disease
  • It is a lifelong condition and there’s no cure for it
  • As a genetic disorder, it cannot be prevented and no one is to blame
  • Each person with Down syndrome is a unique individual with their own personality, passions, strengths and weaknesses, just like anyone else
  • They also have their individual needs for support as they go through life.

Learn more about Down syndrome and risk factors for the condition.

How is a test done for Down syndrome?

Most parents expecting a baby are offered non-invasive screening for Down syndrome. However, it’s up to parents as to whether they want to screen or test the baby for Down syndrome — it’s a personal choice. 

If the screening test is positive, parents can choose to conduct a diagnostic test to confirm the condition. At or after birth, parents can opt for chromosome testing, done from a blood sample to confirm or rule out Down syndrome. 

Screening tests for Down syndrome include the Non-invasive prenatal testing (NIPT) and the Combined first trimester screening test (CFTS). While the NIPT is not covered by Medicare or private health insurance, the CFTS is partially rebatable through Medicare.

Diagnostic tests for Down syndrome are more invasive and carry a slight risk of miscarriage. It’s recommended that you speak to your GP or specialist doctor to confirm whether or not you should get a diagnostic test.

Diagnostic tests include Chorionic Villus Sampling (CVS) and Amniocentesis, and both involve the removal of a small sample of tissue to be tested for the condition.

Learn more about how screening and diagnostic tests are conducted to determine the likelihood of Down syndrome. It’s important to note that both are optional and parents may or may not choose to get these done.

NDIS eligibility for Down syndrome

The NDIS does provide funding for people with Down syndrome. To be eligible for NDIS funding:

  • The person must be aged between 7 and 65
  • The person must live in Australia and be an Australian citizen, a permanent resident, or a Protected Special Category visa holder
  • The person’s disability is caused by a permanent impairment that substantially reduces their functional capacity.

For children under the age of 7, NDIS funding can be accessed through Early Childhood Early Intervention. For those over the age of 7, however, it’s necessary to provide evidence of the impact of the disability on everyday functioning to secure NDIS funding.

Learn more about NDIS eligibility for Down syndrome support. 

Support for Down syndrome: How Mable can help 

Individuals, children or adults, with Down syndrome may experience some health challenges, physically and intellectually. These may include congenital heart disease, intellectual disability or learning difficulties, hearing loss, hypothyroidism, diabetes, Coeliac disease, anxiety and depression, among others.

As they get older, individuals with Down syndrome may develop Alzheimer’s disease, in addition to other ageing-related health issues such as arthritis, osteoporosis and dementia as well.

As a result, different people across a range of age groups need different types of support. Independent support workers on Mable are well experienced in providing support across all aspects of life, whether it’s for a child or an adult.

For children, parents can build a team of support workers on Mable to get support with many aspects of the child’s life, such as engaging in activities for better physical health, skill building (such as playing the guitar or learning the sign language), respite care, support with personal care, and encouraging them to improve their learning and communication capabilities through different activities.

Adults with Down syndrome can also build a team of supports through Mable to help them navigate day to day tasks better and achieve their goals. Support for adults can include cleaning, grocery shopping, managing budgets, finding employment, social participation, staying physically fit, skill building, and much more.

Read more about how engaging a team of support workers can foster a sense of independence and wellbeing for the person and support them to lead a fulfilling and enjoyable life on their own terms.