Down syndrome is a genetic condition – it is not an illness or disease. It occurs as a result of an extra chromosome. Our bodies are made up of millions of cells, and in each cell there are 23 pairs of chromosomes – or 46 chromosomes in every cell. Down syndrome is caused by the occurrence of an extra chromosome, chromosome 21 (Down syndrome is also known as trisomy 21). People with Down syndrome therefore have 47 chromosomes in their cells instead of 46. This results in a range of physical characteristics, health and development indications and some level of intellectual disability. Down syndrome is usually recognisable at birth and confirmed by a blood test. It was named after Dr John Langdon Down who first described it. Although we know how Down syndrome occurs, we do not yet know why it happens. Down syndrome occurs at conception, across all ethnic and social groups and to parents of all ages. It is nobody’s fault. There is no cure and it does not go away. Down syndrome is not a new phenomenon and cases have been recorded through history. Nor is it a particularly rare condition – Down syndrome is the most common chromosome disorder and one of every 700-900 babies born will have Down syndrome. This number has not altered significantly throughout the time that statistics have been collected.
What does it mean to have Down syndrome?
Most young people growing up with Down syndrome today will be able to lead quite ordinary lives in the community. Some can do this without much help, while others may require more support.
Having an intellectual disability
Down syndrome is the most common cause of intellectual disability that we know of. Everyone who has Down syndrome will have some level of intellectual disability. There will be some delay in development and some level of learning difficulty, but because everyone is unique the level of delay will be different for each person. Consequently, the level of support needed to live an ordinary life will be different for each person. There is no way of knowing at birth what level of intellectual disability the child may have. Nor is there a way of predicting how this will affect a person’s life. We do know that having Down syndrome will not be the most important influence on how that person develops and lives their life. Down syndrome affects but doesn’t determine development. What happens after birth will be much more important in shaping their life. Their development will be influenced by family, environmental, cultural and social factors, just like everyone else.
Although a lot of people with Down syndrome speak fluently and clearly, speaking clearly can be difficult for many. A large number will need speech and language therapy to improve articulation and develop good communication skills. People with Down syndrome can usually understand a good deal more than they can express in words and this can sometimes mean that their abilities are underestimated. Some people with Down syndrome find it very difficult to develop language skills and speak clearly, which may be compounded by hearing loss.
Living an ordinary life
People with Down syndrome are not fundamentally different from anyone else. They have the same needs and aspirations in life that we all do:
- a good place to live
- meaningful employment
- the opportunity to enjoy the company of friends and family
- having a role in their community
It is important to reiterate that Down syndrome will not be the most important influence on how each person develops and lives their life.
However, the path to achieving these goals can be more complex than for most people, and the majority of people with Down syndrome are likely to need some level of support to help them achieve the kind of life that most others take for granted.
In the past, many people with Down syndrome did not have the opportunity to develop to their full potential. Often living in segregated settings such as care institutions, separated from the rest of the community, with low expectations placed on them and limited opportunities for learning and personal growth.
Today we recognise that growing up in their families and their communities, with the same rights and responsibilities as everyone else, is vital to the development of people with Down syndrome. It is easy to see that the future for today’s adults will be significantly different. To be part of a community you have to be in it. Encouraging children with Down syndrome to attend their local school with their siblings and peers has many benefits. It opens the way for a smooth transition to adulthood and encourages meaningful inclusion in the community.
People with Down syndrome need opportunities to reach their full potential, like we all do. When given these opportunities, they become valued and productive members of their families and of the community.
Being an individual
One of the greatest challenges that people with Down syndrome face is the attitudes of other people who do not understand what it means to have Down syndrome. Despite much change, many people still don’t see the individual person. Instead they focus on the label ‘Down syndrome’ and expect everyone with Down syndrome to be more or less the same. People with Down syndrome are very different from each other, just as we are all different. Every person with Down syndrome is unique, with their own personalities, talents, abilities, thoughts and interests and like all of us, people with Down syndrome have their own individual strengths and weaknesses. One person might read and write well but struggle with basic maths and budgeting, while another might express themselves well artistically and excel in the arts but have to work hard to speak clearly. Family passions, culture, interests and skills are also likely to be shared by people with Down syndrome as they may be by other members of the family.
People with Down syndrome do not all look alike. People with Down syndrome look more like other people in their own family than others with Down syndrome. Although there are some physical features associated with Down syndrome, there is huge variation in how many of these features an individual may have. For some people, one feature may be very prominent while in another it may not exist at all. Importantly, the physical characteristics of Down syndrome that a person may have do not tell us anything about that person’s intellectual ability.
Another common misconception is that all people with Down syndrome are happy and affectionate. People with Down syndrome experience all the same emotions as everyone else. They can be happy, sad, embarrassed, frustrated, thoughtful and fall in and out of love, just as we all do. They may, however, find it difficult to express their feelings in words. This can lead to frustration and to expressing feelings through behaviours.
Some medical and health matters
As recently as the 1950s, life expectancy for people with Down syndrome was as low as 15 years of age. Advances in medical and social sciences have changed and improved the health and quality of life enjoyed by people with Down syndrome. The majority of people with Down syndrome in Australia today will enjoy a long and healthy life.
People with Down syndrome often have lowered general immunity compared to the general population. This means that they may be more susceptible to infections and common ailments, especially in early childhood. However, a diagnosis of Down syndrome does not mean that someone cannot have a healthy life. Some people with Down syndrome are very fit and healthy, while others may experience more health issues.
There are some common health issues and some medical conditions that are more likely to occur in people with Down syndrome than in other people. Regular health checks and ongoing monitoring of some specific issues are advisable. Living a healthy lifestyle is important, including keeping fit and getting regular exercise.
Research suggests that people with Down syndrome burn fewer calories in doing the same activities as the general population. This means that even with a healthy diet there can be a tendency for both children and adults with Down syndrome to become overweight. An active lifestyle with plenty of physical activity helps to counterbalance this tendency and encourages the development of good habits and general health and fitness.
A small percentage of people with Down syndrome may need a higher level of support because of more complex health issues or a greater degree of intellectual disability.
The most important influence on early development is daily interaction and activities within the family.