What Is Down Syndrome?

What is Down syndrome?

Down syndrome is a chromosomal abnormality that occurs at conception and can result in intellectual and physical delays. It occurs more frequently than any other intellectual disability, and occurs in approximately one in 800 births in Australia.

The syndrome was first described in 1866 by Dr Langdon Down – hence the name

What causes Down syndrome?

Down syndrome is an accident of nature. Nothing that the mother ate, nor took as medication, nor any physical activity during her pregnancy can result in a baby born with Down syndrome. Nothing went wrong during the pregnancy, and all the myths surrounding the causes of the syndrome have been proven to be incorrect.

There is still no known factor to explain why Down syndrome occurs, as it is neither racial, geographical nor environmental. Down syndrome results when a person is born with 47 chromosomes in each of their cells instead of the usual 46, resulting in alterations in development on all the cells.

Can Down syndrome be cured?

No. There is currently no known cure for Down syndrome as it is not a disease but a genetic disorder.

Are there different levels of Down syndrome?

Just as it would be incorrect to say that someone is “only 20% pregnant”, it is also incorrect to say that someone has “x% Down syndrome”.

There are two main types of Down syndrome, Trisomy 21, and Mosaic Down syndrome. The difference is that children with mosaic Down syndrome have two distinct cell groupings. In some cells there is a total of 46 chromosones, which is the “typical” group. In other cells there is an extra copy of the chromosone #21, making 47 chromosomes for this group. People with Trisomy 21 Down syndrome have 47 chromosomes in each group in every cell.

It is important to realise the physical characteristics of a person with Down syndrome bear no relationship to their intellectual development. The degree of ability differs in each individual and includes a wide spectrum of physical characteristics and intellectual abilities.

What are the characteristics of a baby with Down syndrome?

Babies with Down syndrome can often be recognised at birth. There are over 50 common physical characteristics which can be found in people with Down syndrome. However, it must be remembered that no person with Down syndrome will have all of them. Some of the more common signs are:

  • low muscle tone;
  • eyes that have a slight upward and outward slant;
  • a face that appears flatter;
  • a shorter neck;
  • the ears are smaller and low set;
  • a single crease across the palm of the hand instead of the usual two;
  • a sandal gap between the toes;
  • the hands and fingers tend to be shorter than usual.

The future

The future of a person with Down syndrome has the potential today to be better than it ever has been before. With society adopting a more enlightened and informed attitude, people with Down syndrome have the opportunity to participate and become complete members of the community. It is hoped that all of us in society will continue to advance in this area and treat all people, including those with special needs, with respect and understanding.

As young people with Down syndrome show what they can do with support from their community as they integrate into mainstream programs, more doors are opened for others. We have seen TV series starring talented actors with Down syndrome enlighten the general public about the potential of our children. Hundreds of young people with Down syndrome across the country are quietly going about their lives within their community.

They have dreams and determinations to reach their goals, they learn in regular classrooms in their neighbourhood school with children who will someday be their co-workers, neighbours and adult friends. Young adults hold diverse and meaningful jobs, maintain their own households and make significant contributions to their communities every day.