What is Down Syndrome?
Down Syndrome is probably almost as old as history itself.
In fact, 7th and 8th century writings describe people with Down Syndrome, and they are also depicted in may works of art which have withstood the ravages of time. Of course, the life expectancy of a child born with the Syndrome was relatively short, due to inferior medical knowledge of the day, and most of these children were taken and reared in convents where they became affectionately known as “Children of God”.
It was in 1866 that Dr Langdon Down, an English physician, first described the Syndrome and remarked on the resemblance of the facial features to those of Mongolian races, hence the unfortunate use of the words “Mongolian” or “Mongoloid”. There are other features noticeable at birth, but the most common of which is poor muscle tone. Certain abnormalities in the heart or intestines may also be present and can be detected by doctors in the early days of life. The feature which most concerns parents at this early stage is intellectual disability.
What Causes the Syndrome?
Down Syndrome is an accident of nature - no one is to blame. Nothing that the mother eats or takes as medication, nor any physical activity nor emotional condition during her pregnancy, can result in the birth of a child with Down Syndrome. It happens because there is an imbalance of chromosomes in either the development of the egg or sperm, or in the first or second division of the fertilised egg when an extra chromosome appears. So there is an error in the correct number of chromosomes to be found in the cells of the new growing baby.
Each cell of the human body contains 23 pairs of chromosomes (making 46 chromosomes altogether), and each chromosome controls up to some thousand genes which govern growth and development. The child with Down Syndrome has 47 chromosomes instead of the usual 46. The smallest chromosome (21) is present in triplicate rather than as a pair. Although the genes of these number 21 chromosomes are normal, because there are three instead of two, the gene’s balance is upset and thrown out of harmony, and so alterations in development are produced. Therefore, it is not surprising that as the body grows, there are alterations in every cell and tissue of the body, including the brain cells. These characteristics we know as Down Syndrome.
Down Syndrome Falls into Three Groups:
Trisomy 21
The majority (about 94%) of children with Down Syndrome are born with standard Trisomy 21, which is not hereditary. This is when either the egg or sperm carries the extra chromosomes prior to conception.
Mosaic
(About 1%). A person with mosaic Down Syndrome starts off with 23 pairs of chromosomes, and a mistake is made in early division of cells (either the first or second division). So we have two cell lines - a mixture or normal and trisomatic.
Translocation Trisomy 21
(About 4%). In a small percentage of cases, there are not three identifiable separate chromosomes. the long arm of the extra 21 chromosomes attaches itself to another chromosome (usually number 14). So chromosomes are produced which do not fit into the size scale, and the extra chromosome 21 material will develop the characteristics of Down Syndrome. It is possible in about one in three of these cases that the parent can be a balanced translocation carrier, though not having Down Syndrome themself. However, this brings about a hereditary factor (about 1% of Down syndrome is hereditary). It is therefore advisable to have chromosome analysis performed to exclude the possibility of the translocation type of Down Syndrome. If a baby has a translocation chromosome, parents should then have a chromoosomal study made to determine whether either of them is a balanced translocation carrier. Parents under 30 are more likely to be translocation carriers than those over 30.
Most couples who have given birth to a baby with Down Syndrome have little risk of producing a second baby with the condition. However, GENETIC COUNSELLING is available in all states to parents who suspect they are likely to have another child with Down Syndrome. Today, through AMNIOCENTESIS (or ante-natal screening), it is possible to tell whether a pregnancy will result in a baby with Down Syndrome. This is a special test done in which some fluid is withdrawn from the amniotic fluid space in the lower part of the mother’s abdominal wall. This fluid, which contains casts of skin cells of the foetus, is then cultured for two to three weeks and the chromosomes are stained and counted. This shows whether a child has the normal number of chromosomes. Parents can then decide whether or not they wish the pregnancy to be terminated. There is small element of risk attached to this procedure. If carried out by skilled people, the maximum risk of losing a foetus through miscarriage is under 1 in 100. Many doctors recommend that this test be carried out on all mothers over 35, or those who have already had a child with a chromosomal disorder.
How Common is Down Syndrome?
Reports vary. However, it is fairly much accepted that in every 600 babies born, one has Down Syndrome. The number of incidents increase as the parents become older.
It is an accepted fact that in many pregnancies which end in miscarriage, there is a genetic imbalance, and one fourth of all embryos lost by spontaneous miscarriage have an altered number of chromosomes.
Note the Following Table
Mother’s Age Numbers of Down Syndrome births
Under 20 years Less than 1 in 2,000
20 - 30 years Less than 1 in 1,500
30 - 34 years About 1 in 750 - 880
35 - 40 years About 1 in 280 - 290
40 - 44 years About 1 in 130 - 150
Over 45 years Between 1 in 20 - 65
Characteristics of the Person with Down Syndrome
It is important to remember that, although there are many possible physical characteristics to distinguish Down Syndrome, it is extremely unlikely for all of these to be present. Nor do physical characteristics have any influence on mental ability, or vice versa. Each child is an individual in his/her own right. The following are a few of the physical characteristics found in some people with Down Syndrome.
- The eyes have an upward and outward slant with an exaggerated fold of skin on the inner side of the eye (the epicanthal fold).
- Small white patches (Brushfield spots) can sometimes be seen on the edge of the iris.
- The face has a flat appearance because the bridge of the nose tends to be low and the nose short and flat.
- The back of the head may appear less prominent and the head tends to be a little smaller than average. Frequently the fontanelles are larger than usual, with an extra soft spot in the middle.
- Often the neck is short, and babies across the back of the neck which disappears as the child grows.
- Ears tend to be small and low set.
- The mouth appears to be small, the roof of the mouth flattens with a high arch in the middle. The tongue has less room and tends to protrude.
- The legs and arms are often short in relation to the torso.
- Hands are often short and stubby. Sometimes there is a single crease across the palm instead of the more usual down. The tip of the fifth finger frequently turns inwards.
- Sometimes there may be cleft between the first and second toes.
- Skin may have a mottled appearance and may become somewhat dry as the child grows older.
- At birth some babies have poor muscle tone (hypotonia) and will feel floppy. There is also a tendency towards lax ‘joints, especially at the hips.
Will The Child With Down Syndrome Be a Sick Child?
As late as 1927, 80% of children with Down Syndrome died before reaching six years of age. In 1960, the Carter report stated that (6%), died before five years at the time. However, with the improvements in today’s medicine, the person with Down Syndrome can enjoy a fairly normal life span with reasonably good health unless he has one of the physical problems sometimes found in children with Down Syndrome.
The child with Down Syndrome may be more prone than others to colds or bronchial complaints, may suffer from skin rashes, sore lips, inflammation of the eyes etc. However, today’s antibiotics, increased knowledge and better care means that the lives of those people are no longer threatened by such things as pneumonia and gastroenteritis.
It is wise to check eye-sight and hearing regularly, as these are areas where there is often an impairment.
The most common problem is congenital heart disease, and about 40% of children born with Down Syndrome have heart problems. The heart can be abnormal in many ways, the mildest forms causing little trouble and being self corrective, other problems need surgery, and the most severe will shorten life. Most cardiac problems involve the condition known as “a hole in the heart”, however, strictly speaking there may be more than one hole.
Owing to poor muscle tone and lax joints, some babies are slow in reaching such milestones as sitting, crawling, walking etc. The assistance and advice of a physiotherapist is invaluable in these instances.
The child who has no serious physical defect and receives adequate attention for childhood ailments should not be a sickly child.
What Can be Expected From The Child?
It is impossible at birth to give a precise statement to the expectations of a normal child, and so it is also impossible to make a similar statement about a range of abilities of a child with Down syndrome. We must remember that the genetic endowment of the baby with Down Syndrome does not set a limit to his or her ultimate achievement.
However, with the knowledge, encouragement and support available today, from many sources, expectations are comparatively higher than they were just a few years ago. The future today is brighter for the child with Down Syndrome than ever before.
The range of achievements of the child with Down Syndrome varies with each individual (as with normal children).
The efforts of educationalists (especially those involved with early intervention programs) engaged in developing new approaches to the education of children with Down Syndrome are aimed towards extending these children to their maximum potential. Programs provided by different groups are varied, but all give support for families and children both ‘in a group situation and in the home.
Children with Down Syndrome now have the opportunity to attend early intervention groups (age range - birth to six years), normal play groups, pre-school centres, and then often progress to the mainstream school where they work side by side with their peers following the same curriculum.
It is important to realise that the child with Down Syndrome is an individual personality who has the same physical and emotional needs as any other child:
- He/she has a need to be loved and cared for.
- A need to recognise his/her own self worth and have that worth recognised by others.
- A need to develop his/her own self confidence and self esteem.
- A need to be accepted for what he/she is and have others respect his/her rights as a person not to be limited to his/her abilities just because he/she has a disability.
Given these conditions, he/she can contribute as a valuable member to both a family and the community at large. The child has much to offer and can become a productive adult.
Problems Faced by Parents
Parents are ‘individuals and as such cannot be categorised into groups. Everyone win react differently to any problem according to his/her personality, background knowledge, and how a new situation or problem is presented.
When a child with Down Syndrome is born, the emotional stress placed upon a family can cause enormous strain on the household, and sometimes a marriage is at risk. Parents suddenly facing this new set of circumstances are so often unsure of their capacity to cope adequately in this situation for which they are not trained, do not understand, do not want, did not deserve but cannot escape. They are caught up in a world of the unknown.
The initial period is usually one of shock, anger, frustration and bewilderment - the new parents feeling helpless and full of fear. Fear first of the unknown, which brings about fear of inadequacy leading to a fear of failure, and so to ‘insecurity. Depression, guilt and grief for the child who was dreamed, but did not eventuate, often follows.
How does a family cope in this situation? Fortunately, there are many supports within the community to not only enable them to cope, but also to thoroughly enjoy this child whose birth at first appeared such a tragedy.
Some Special Needs by Parents
First, parents may need the support of the professional people who will assist the (often on a long-term basis).
Parents needs to have both communication and trust in the professional people who will deal with their child.
Parents need to be given information about their child which is carefully and accurately explained - the results of any tests carried out, what treatment is being, given, and what that treatment aims to do. The language used needs to be not only sensitive but concise and direct. Evasive conversations only confuse parents and ‘increase their anxiety.
Professionals must not expect parents to absorb all the information immediately, as it may be misunderstood or misinterpreted and may need to be explained again and patiently clarified. This can only be done if the professional people themselves are well-informed and are “aware” people.
Parents need to be given facts rather than advice. It is important for parents themselves to make decisions about their child, but these must be well-informed decisions. Once again, it is necessary for the professional people themselves to be well- informed, having an accurate knowledge of the child’s possible developmental potential and also having up-to-date information about the services which exist for both children and parents.
Parents need to be fully involved with what is happening with their child. They need to be able to work together with others as a member of a multi-disciplinary team.
Parents need to be given credit for their own knowledge - in most cases, special knowledge of their own child.
Parents need to be regarded as people of normal competency. They do not want to feel that they are a freak, or emotionally unbalanced themselves, just because they happen to have a handicapped child.
Professional people are like actors who pass through a family’s life - they can withdraw at any time. Parents, however, are permanent and their responsibility is always with them, therefore, parents need the commitment of outsiders for support.
Parents need to have their own needs to be considered as well as the needs of their children.
Parents need social, moral, economic and practical support given in appropriate and sensitive ways.
Where Help Should be Available
The following list details where assistance and support should be available. The names of groups and organisations may differ from state to state, as may the responsible Government department with regard to educational facilities.
Birth to 6 Years of Age
- Down syndrome Associations
- Hospitals - Paediatricians - Social Workers
- Family doctor
- Infant Welfare Centres
- Toy Libraries for children with disabilities
- Associations for citizens with disabilities
- Local councils
- Community Health and Welfare Programs
- Council Home Help (Baby-sitting services, etc)
- Handicapped persons Information Bureau (Health Commission)
- Regional Offices of Intellectually Disabled Services (Health Commission)
- Early Intervention Centres
- Local Play Groups
- Normal Pre-school Centres
to 16 Years of Age
- Includes some of the above
- Guidance and Counselling Services (Education Department)
- Normal schools (Education Department)
- Special schools (Education Department)
- Special Developmental schools (Education Department)
- Day Training Centres (Health Commission)
- Private Training Centres
16 Years Plus
- Includes some of the above
- Activity Therapy Centres
- Sheltered Workshops
- Possible Open Employment
* Source : Down Syndrome Society of SA
