Down Syndrome, also known as Trisomy 21, is a genetic condition in which an individual is born with three copies of Chromosome 21. It occurs in one in a thousand live births and the likelihood of having a child with Down Syndrome increases with the age of the mother, especially over the age of 35 years.
The first trimester screening test is available to pregnant women to determine how likely it is that they are carrying a baby with Down Syndrome. If found to be “at increased risk” with this test, mothers are then offered a diagnostic test to confirm.
Children born with Down Syndrome can experience a range of health issues throughout their lives. Some associated conditions can be present from birth and others develop later on in life. People with Down Syndrome will usually have an intellectual disability or learning difficulty. Employment and independent living can often be achieved, sometimes with the support of others. Medical conditions that can occur in people with Down Syndrome include the following:
- Heart and valve disease
- Gastrointestinal conditions including reflux and constipation
- Neurological conditions including epilepsy and dementia
- Hearing and vision impairment
- Respiratory conditions and breathing difficulties
- Musculoskeletal conditions including low muscle tone and joint issues
- Lowered immunity and increased susceptibility to infections
- Mental health conditions
- Skin conditions
- Haematological diseases including leukaemia
- Endocrinological conditions including hypothyroidism
There is no cure for Down Syndrome. With improved medical care, the average life expectancy of someone with Down Syndrome is now 60 years of age.
At Adelaide Disability Medical Services, our caring team of doctors will take the time to understand you and your health needs through regular appointments. Our annual Health Assessments are comprehensive and are aimed at managing current health issues and identifying new ones. Blood tests and other investigations are often used to help detect conditions that are associated with Down Syndrome such as hypothyroidism and heart valve disease. We will work with your care providers and specialists, to keep you well so that you can continue to do the things you enjoy.
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