What is Down syndrome?
Down syndrome, also called Trisomy-21, is when a baby is born with an extra chromosome. This extra chromosome causes delays and differences in the way a baby develops.
These features vary widely between individuals with Down syndrome, and they can be considered as mild to severe. Some children born with Down syndrome will need frequent medical assistance throughout their lives.
Detecting and diagnosing Down syndrome
If undetected during pregnancy, Down syndrome can be recognised at or shortly after birth by the baby’s physical features. A blood test can confirm this diagnosis.
Tests are available during pregnancy to help screen for Down syndrome. If your doctor believes that there is an increased chance that you may give birth to a baby with Down syndrome, they might offer additional types of testing, like amniocentesis. These tests carry some risk to the life of the foetus and therefore are not offered without information and consultation.
Features of Down syndrome
Babies, children and adults with Down syndrome all experience it differently. There are, however, many common characteristics to individuals living with Down syndrome, including:
- a slower growth rate
- a flatter face and slanted eyes
- a short neck
- an enlarged or protruding tongue
- shorter stature
- broad, short hands and short fingers
- increased flexibility and limb floppiness
- a smaller head
- delays in language development
- delays in developing motor skills
- delays in intellectual development
- impaired memory.
Risk factors for Down syndrome
Some of the risk factors for Down syndrome include:
- older parents, particularly mothers over 35
- the parents being carriers for the genetic conditions for Down syndrome
- having had one child with Down syndrome.
Conditions associated with Down syndrome
Some of the conditions that individuals living with Down syndrome experience throughout their lives include:
- congenital heart defects
- a propensity for weight gain and obesity
- early onset dementia
- a compromised immune system
- an increased risk of spinal problems
- hearing and vision problems
- gastrointestinal defects
- an increased risk of leukemia
- sleep apnoea.
Living with Down syndrome
While the conditions of living with Down syndrome are not reversible, they can be managed with medical treatment. Developmental delays and intellectual barriers to learning can also be managed with early intervention and ongoing care.
Many children with Down syndrome are able to attend mainstream schools, although some will benefit from specialist learning and support. All children living with Down syndrome benefit from love, socialising and support.
Adults with Down syndrome can lead active lives in the community and enjoy a good quality of life. Some adults with Down syndrome can live largely independently, although many require additional ongoing care in a semi-independent arrangement.
If your baby has Down syndrome this is likely to have been detected before or immediately after birth. You will be provided with a range of health and social support resources and you should seek these out; many families enjoy happy, fulfilling lives with children who have Down syndrome and are willing to share their experiences with and provide support to new parents.