Tuesday, March 21, 2017

Understanding Down Syndrome - the Basics




Down syndrome (DS), or Trisomy 21 is a naturally occurring chromosomal arrangement that has always been a part of the human condition, exists in all regions across the globe and commonly results in variable effects on learning styles, physical characteristics or health.

Adequate access to health care, to early intervention programmes and to inclusive education, as well as appropriate research, are vital to the growth and development of the individual.


Each year, on this symbolic date of March 21, persons concerned by DS organise demonstrations, scientific, social and /or medical meetings, exchange their knowledge as well as their requests at the national, European and international levels.

On March 21, 2006, professor Stylianos E. Antonarakis, from University of Geneva Medical School, suggested to ART21, an association of parents from Swiss Allemanic regions concerned by DS, to organize a manifestation on March 21 in Geneva.

On December 20, 2007, WHO recognized March 21 as the World Down Syndrome Day. The general Assembly of the United Nations decided to "designate 21 March as World Down Syndrome Day, to be observed every year beginning in 2012;" and "invites all Member States, relevant organizations of the United Nations system and other international organizations, as well as civil society, including non-governmental organizations and the private sector, to observe World Down Syndrome Day in an appropriate manner, in order to raise public awareness of Down syndrome".

en.wikipedia.org


Down syndrome: a genetic condition


Down syndrome is a genetic condition. It is not an illness or a disease. 

Our bodies are made up of millions of cells. In each cell there are 46 chromosomes. The DNA in our chromosomes determines how we develop. Down syndrome is caused when there is an extra chromosome. People with Down syndrome have 47 chromosomes in their cells instead of 46. They have an extra chromosome 21, which is why Down syndrome is also sometimes known as trisomy 21.

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 the most common chromosome disorder that we know of. One of every 700-900 babies born worldwide will have Down syndrome, although this number is lower in Australia - see Down syndrome population statistics. Down syndrome is not a new condition. People with Down syndrome have been recorded throughout history.

People with Down syndrome have:

  • some characteristic physical features
  • some health and development challenges
  •  some level of intellectual disability.

Because no two people are alike, each of these things will vary from one person to another.

A test for Down syndrome can be carried out before a baby is born. Down syndrome is usually recognised at birth and is confirmed by a blood test. It was named after Dr John Langdon Down who first described it.


Most of the young people growing up with Down syndrome today will lead quite ordinary lives in the community. Some people with Down syndrome may not need much help to lead an ordinary life, while others may require a lot of support.


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. Because everyone is unique, the level of delay will be different for each person.

When a baby is born, there is no way to tell what level of intellectual disability the child may have. Nor can we predict the way in which this may affect a person's life. However, we do know that having Down syndrome will not be the most important influence on how that person develops and lives their life. Instead, what happens after birth will be much more important and family, environmental, cultural and social factors will shape their life, just like everyone else.

For many people with Down syndrome, speaking clearly can be difficult. Although a lot of people with Down syndrome speak fluently and clearly, many will need speech and language therapy to achieve this. Very often, people with Down syndrome can understand a lot more than they can express with words. This often means that their abilities are underestimated, which can make them feel frustrated.

Some people with Down syndrome will find it very difficult to develop language skills and speak clearly. This may be made worse by hearing loss.


People with Down syndrome are not fundamentally different from anyone else.

They have the same needs and aspirations in life that we all do, including:

  •  a good place to live
  •  meaningful employment
  • the opportunity to enjoy the company of friends and family
  • intimacy
  •   having a role in our community.

However, achieving these goals is harder for people with Down syndrome than it is for everyone else. Many people with Down syndrome are likely to need some level of support to help them achieve the kind of life that most people take for granted.

In the past, many people with Down syndrome have not had the opportunity to develop to their full potential. Often, they have been separated from the rest of the community, living in segregated settings such as care institutions. Low expectations were placed on them and there were limited opportunities for learning and personal growth.

Today we recognise that growing up in families and communities, with the same rights and responsibilities as everyone else, is vital to the development of people with Down syndrome.

To be a part of a community you have to be in it. This means that people who have only experienced life in a segregated setting may find it difficult to be included in the general community. Life for people who grow up being included in families and communities will be very different than it has been for those who have always lived in care facilities.

Encouraging children with Down syndrome to go to a school with their peers from their community 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 the community.



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 just see '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 talents, abilities, thoughts and interests. And, like everyone else, people with Down syndrome have strengths and weaknesses. While one person may read very well but find basic mathematics difficult, another might be a first-class cook and live independently in the community, but will 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. In fact, people with Down syndrome look more like other people in their own family than they look like others with Down syndrome. Although there are some physical features associated with Down syndrome, there is large 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 get 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 the expression of feelings through behaviours.


Language can empower individuals and their families or reinforces limiting stereotypes. Words, and the way we communicate, shape how a person is accepted in the community and impacts on their quality of life. Terminology referring to disability has changed over the years. The commonly accepted terminology for the diagnosis is:

A person with Down syndrome or a person who has Down syndrome

 Please avoid using out-dated and degrading terminology – today we refer to a person with an intellectual disability.

By using appropriate terminology, and encouraging others to do the same, you are actively seeing the person first and as more important as the disability.

It is also worth being mindful that:

  • People do not ‘suffer from’ Down syndrome. Avoid other terms that imply this. For example, ‘a victim of’ or ‘afflicted by’.

  • People with Down syndrome are not by definition ‘special’, ‘poor’ or ‘unfortunate’. They should be referred to with the same respect we expect people to show everyone.

  •  Statements which reinforce stereotypes, and suggest that everyone with Down syndrome is the same, may cause offence. 



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