Austrália
Down syndrome
What is Down syndrome?
In 1866 an English physician, Dr. Langdon Down, published a paper describing the characteristics of Down syndrome and showed that these children differ from children with other types of intellectual disability. In the course of his description, he remarked that he saw a resemblance of the facial features of these people to those of the Mongolian race, which explains the unsuitable and inappropriate use of the word 'mongolism', 'mongoloid', or 'mongol'. These terms should not be used, as they are negative and incorrect. However, although not characterised until 1866, Down syndrome is not a new phenomenon. Archaeological evidence records skulls, which appear to have the structural features of Down syndrome, and writings from many centuries ago describe its characteristics. Children with Down syndrome are also depicted in many works of art, which have withstood the ravages of time.
What causes Down syndrome?
Down syndrome is a term used to describe the unique medical and physical characteristics seen in individuals born with a specific chromosomal abnormality. Chromosomes are structures that contain the genetic information we need to grow and develop normally and are present in all our cells. Each cell in the human body normally contains 46 chromosomes. These chromosomes exist in 23 pairs, labelled from 1 to 22, with the 23rd pair being known as the sex chromosomes. Females have 2 X sex chromosomes and males an X and an Y sex chromosome. Each egg or sperm cell our bodies produce contains one copy of each of the 23 pairs of chromosomes. We inherit one copy of each pair of chromosomes from our parents at the time of conception. Each chromosome is made of a compound known as DNA which contains encoded genetic instructions, known as genes, for the development of all the structures and functions of our body. Each chromosome contains thousands of genes. Our development is very precisely controlled by our genes, so that if an individual has either too much or too little chromosomal material, problems with development arise, which result in specific medical and intellectual problems. It was only as recently as 1956 that researchers discovered the correct number of chromosomes in a human cell. Shortly after this discovery, Dr Jerome Lejeune from France identified that individuals with Down syndrome have a specific chromosomal abnormality involving the presence of 3 copies of chromosome 21 instead of the normal 2 in each cell. This means that the cells contain 47 rather than 46 chromosomes. The other name used to describe Down syndrome is Trisomy 21 as trisomy means three copies. The extra copy of chromosome 21 appears to be a normal chromosome, containing the normal genes. The presence of 3 copies rather than 2 cause alterations in the early embryonic development of an individual with Down syndrome, resulting in a number of characteristic medical and intellectual difficulties described below.
Is there a cure for Down syndrome?
There is no cure, as the genetic make-up of a person with Down syndrome cannot be changed. It is an irreversible condition that happens at the time of conception. There is an abnormality in the number of chromosomes in all body cells and this cannot be altered. However, as for all children, the child who has been born with Down syndrome has enormous potential and tremendous ability to achieve. It has been suggested that there are many treatments - e.g. cell therapy, Doman/Delacarto programs, high dosage vitamin therapy, etc., which can be helpful to the syndrome. Due to a lack of scientific evaluation of these treatments, it is difficult to say what value, if any, they might have. However, any stimulation is always of value.
Characteristics of the person with Down syndrome
Each person with Down syndrome is an individual. As Down syndrome is a chromosomal abnormality, the extra chromosome can potentially cause problems in every cell of the body, which includes such areas as skin, bone, bone marrow, blood and muscle tissue. It must also be appreciated that the person who has Down syndrome has far more normal characteristics than abnormal characteristics. People with Down syndrome also inherit genes from both sides of the family and so have family characteristics and family resemblances. While there are over 50 physical characteristics that can be found in people who have Down syndrome, no person with Down syndrome will have all the characteristics described. Some characteristics may be present in one person, but not in another. The number of physical characteristics present does not have any influence on mental ability or vice versa.
Some common traits.
- low muscle tone
- eyes may have an upward and outward slant
- small white patches on the edge of the iris of the eye (Brushfield spots)
- ears tend to be small and low set
- nasal bone can be underdeveloped; jaw bone and mouth can appear to be small; roof of the mouth can have a high arch ; the tongue can have less space and protrude
- legs and arms are often shorter in relation to the torso
- hands are often short and stubby; may be a single crease across the palm instead of the usual two; tip of the little finger may turn inwards
- may be a cleft between the first and second toes
- genitals may be small
- skin may have a mottled appearance
- hair is sometimes fine and straight
- teeth may be slightly smaller and do not appear in normal 'order'; can also be abnormally shaped.
- delay in reaching milestones, eg. sitting, crawling, talking, toileting, etc
What can be expected from a child with Down syndrome?
As it is impossible at birth to give a precise statement as to the expectations of any child, it is also impossible to make predictions about the range of abilities of a child who has Down syndrome. All children can learn. However many children learn differently. Most children, given the opportunity, can learn to read, write, handle money, do simple maths, use a calculator and become competent and independent people. It should be remembered, however, that the genetic endowment of the child with Down syndrome could set a limit to his or her ultimate achievement, which is usually lower than that of most normal children. It is important to realise that the range of achievements of a person with Down syndrome varies with each individual, as with all people. However, with the knowledge, stimulation, encouragement and support available today from so many services - particularly through the availability of relevant information, early intervention and far more appropriate methods of education - expectations are much higher than they were just a few years ago. The future is brighter today for the child with Down syndrome than it has ever been before. Not all children with Down syndrome will behave and perform in the same way: each child is a unique individual. Any two children who have Down syndrome are just as different as any two so-called 'normal' children. Each child is a functioning being in his own right and there is no-one else in the world just like him, either in ability or temperament. The child reacts to the same pressures, situations, conditions, loving (or rejecting) in their own way. At the same time the child also needs discipline and direction. The child needs love, caring, warmth, stimulation, acceptance, socialisation, etc, to enable him/her to grow and mature into a thinking, independent adult. He/she is far more 'like' other people than unlike them. Early information on people with Down syndrome came from studies of adults who had always lived in the restricted atmosphere of institutions, and as a result it was thought that the abilities of these people were narrow. Current research in fact, shows that the potential range of ability and achievement is quite high, and varies greatly with each individual. Enormous benefits can result from intelligent stimulation, play and general encouragement given from the time of birth. Over the past few years there has been a surge of encouraging research in the area of education of children with Down syndrome which is aimed towards developing these children to their maximum potential. Programs provided by different groups are varied. Some are centre-based, some home-based and some a mixture of the two, but all give support, encouragement and information to families. Many groups are available where parents can meet and share information and experience. Children with Down syndrome now have the opportunity to attend early intervention groups (age range - birth to 6), normal playgroups, pre-school centres and then progress to the mainstream school where they work side-by-side other children. This enables the child to grow up in, and be part of the community in which they lives. They learn what is the normal and acceptable behaviour in the world he/she lives. They have the potential to take their place in the workforce - becoming a productive member of society and an asset to the community.
What are the needs of a person with Down syndrome?
Unless there is a particular health problem, the needs of a baby with Down syndrome are identical to any baby. The child needs to be fed, kept warm, have his/her nappy changed, be talked to, sung to, played with, loved, cuddled, taken shopping, visit Grandma, etc., in the same way as their brothers and sisters. The child's most important need is to get to know 'his/her family' and become part of it so that they can know the love, care, cherishing, security and stability that is vital to all babies, and the family needs to get to know the child. As they grow up, the child needs to be seen as an individual personality in its own right. A person first - with special needs second. They need to be accepted for who and what they are. The greatest handicap is probably the label attached to the child, along with the prejudices that go with it. Being part of the 'normal' world should enable people with Down syndrome to lead more fulfilled and independent lives and can only be enriching both for themselves and all those other people with whom they have contact. The child who has Down syndrome has much to offer - she can contribute so much as a valuable member of her family, and is an asset as a future productive adult to the total community.
Sex and marriage
In the past it has been unusual for people with Down syndrome to marry, although some have. It would appear that the sex drive might be reduced; though this does not mean that the person with Down syndrome is not interested in the opposite sex, and girl friends and boy friends play an important role in their lives. Females with Down syndrome menstruate, as do other women, and have been recorded as mothers. A proportion of the children who have mothers with Down syndrome will also have Down syndrome while others are not affected. A proportion of males who have Down syndrome will produce sperm and cannot be considered sterile.
With today's improving conditions, knowledge, changing attitudes and the stimulation from birth of the child who has Down syndrome, we are seeing a much more aware and normally socialising adult and this will contribute to major changes in his/her overall interests, potential, abilities, achievements and complete way of life.
Parenting a person with Down syndrome
All parents are different and the reactions of each person (even a husband and wife who share a close bond of love and understanding) to any problem they might face will be different and individual, even though there are certain common threads. When a child with Down syndrome is born into a family, parents will react differently for many reasons including their general family upbringing and environment, earlier experience of people who are handicapped, expectations of the child before birth and how a situation is presented to them. The emotional stress placed upon the family can cause enormous strain on a household and sometimes a marriage can be at risk. The birth of a child with Down syndrome can effect a relationship as up until this stage, parents have made their own decisions and governed their own lives but now something has happened which has taken away that centre of control. The unexpectedness of the event often brings initial shock and disbelief, as few people are prepared for life changing events. Suddenly facing this new situation which they did not expect, are not trained for, do not understand, do not want or deserve, but cannot escape, parents are often unsure of their capacity to cope. They are caught up in the world of the unknown and can feel helpless. Frustration, depression, disappointment, sometimes guilt and shame, and often grief for the child who has been "lost" can follow. How does a family cope in this situation? When the numbness wears off and the nightmare recedes, there are a whole host of questions to be answered, and lots of resolving to do. Parents have entered one of those change points in life - a time of adjustment. Fortunately there are many supports within the community.
Looking to the future
After the initial impact of the birth of a child with Down syndrome, it is natural to have apprehensions about the new responsibilities of the future. Some parents feel that there will be many changes made to their way of life but this does not need to occur immediately, or in some cases, at all.