What is Down syndrome?
Down syndrome is caused by having an extra copy of chromosome 21. This is genetic and occurs when you are conceived, having Down syndrome is not an illness or disease. You may have some level of intellectual disability, some developmental delays, some characteristic physical features, or an increased risk of some health conditions such as lower immune system, being overweight, having low thyroid levels or developing osteoporosis. There is a 50% chance of having a congenital heart disease, so it is recommended that all newborns with Down syndrome be checked by a paediatric cardiologist.
You will likely lead a happy and healthy independent life, including making friends, forming romantic relationships, and having a fulfilling personal life, you may have a job and need very few supports.
Down syndrome is named for the English physician John Langdon Down, who characterized the condition, but did not have it.
About 1 in every 1,100 babies born in Australia will have Down syndrome.
What are some of the physical characteristics of Down syndrome?
There are certain physical characteristics of Down syndrome that you may have some, all, or none of. These can include:
· Short, stocky physical size, with a short neck.
· Poor muscle tone.
· Flattened facial features, especially the bridge of the nose.
· Small ears.
· Almond-shaped eyes that slant upward.
· Small hands and feet.
· Single deep crease across the centre of the palm of the hand.
What are some of the learning and behavioural symptoms of Down syndrome?
As with physical characteristics, you may have some, all, or none of these common learning and behavioural symptoms which can include:
· Delays in speech and language development.
· Attention problems.
· Sleep difficulties.
· Stubbornness and tantrums.
· Delays in cognition.
· Delayed toilet training.
What support is available?
There are support groups where parents can share their joys and challenges of raising children with Down syndrome. You may need to see a specialist for other health conditions such as a cardiologist, endocrinologist, or geneticist, a speech therapist to assist in communication, occupational therapist to refine your motor skills or make daily tasks easier, and behavioural therapists to help you manage your emotions. You may find you need extra support at school if you have difficulty learning.
Our support team can help you in your everyday life to experience a greater quality of life by ensuring you’re eating healthy, nutritious meals, attending appointments, keeping yourself and home clean and hygienic, as well as accessing the community and rebuilding interpersonal skills.
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