· What is Down’s syndrome
· Prenatal testing for Down’s syndrome
· Interview with the Walker family
· List of references and sources
The reason I chose to write about Down syndrome is partly because my interest for various shapes of handicaps, but mostly because I know a lovely girl called Alexandra.
When I was an exchange student in New Zealand year 2000, I stayed with a family whom had adopted a Down syndrome girl, Alexandra. Before that, my experience of Down syndrome and other disabilities was very limited.
Alexandra thought me a lot of things and really made me more open-minded towards the intellectual handicapped. When I returned to Sweden I stared part-time working at a group housing for autistic teenagers. Something I would probably never had done if I had not been privileged enough to get to know Alexandra!
There is a lot of information regarding this subject, and people’s knowledge has increased sharply during the last 20 years. This has resulted in a strongly improved quality of life for the disabled people in our society. The average length of life for Down syndrome people has also increased, from 2-3 years in 1920, to 57 today. Alexandra Walker age 9.
What is Down’s syndrome
Down syndrome (DS) is a chromosomal anomaly that occurs in 1.3 per 1000 births. For some unexplained reason, an error in cell development results in 47 chromosomes rather than the usual 46. The extra gene material slightly changes the orderly development of the body and brain. The national population of individuals with DS is estimated to be 250,000.
About 80% of babies with DS are born to mothers under the age of 35. About 1 in 400 babies born to women over 35 have Down syndrome.
People with DS are more like typically developing individuals than they are different. There is great diversity within the population in terms of personality, learning styles, intelligence, appearance, compliance, humour, compassion, congeniality and attitude. Favourite pastimes vary from person to person and range from reading, gardening and travel to sports, music and beyond.
Children with DS look more like their families than they do one another, have a full complement of emotions and attitudes, are creative and imaginative in play and pranks, and grow up to live independent lives with varying degrees of support and accommodations needed.
There are three major types of Down syndrome. The most common one is to have Trisomy 21, meaning presence of extra genetic material on the 21st pair of chromosomes resulting from an anomaly in cell division during development of the egg or sperm or during fertilization. About 95% of people with DS have Trisomy 21. About 4% have Translocation, where the extra chromosome 21 broke off and became attached to another chromosome. About 1% has Mosaicism, where only some cells have Trisomy 21.
People with Down syndrome have been around in all times in all ethnic groups and cultures. One can find several images of children and adults with Down syndrome in churches as old as from the 15th century. In Holland you can find an altarpiece from 1505, which shows a child with typical signs of Down syndrome. Archaeological diggings in England shows that the condition probably was there before year 1000.
The first description of a person with DS was made 1838 by Jean Esquirol. Eight years later Edouard Seguin described a patient with Down syndrome. None of these gave the syndrome their name tough.
Down syndrome got its name from the English doctor Down who was the first to make a detailed description of this condition. John L H Down wrote an article 1866 about classification of different kinds of retardness. He was deeply influed by Darwin’s development theories, and in the article he described a Mongolian race, since he thought DS would have arose from a Mongolian type. Which is in many ways wrong. People with Down syndrome are as easily recognised in Japan and China as in Sweden.
Not until 1956 scientists could prove that humans had 46 chromosomes. The scientists Levan and Tio made the discovery in Lund, Sweden. After this discovery, Tio requested a change of name from mongolism to Down syndrome.
One million retarded children are born every year in the world. Of them 100,000 have Down syndrome. In Sweden the figures is estimated to be 5000 people with DS, and 120 babies born each year.
Trisomy 21 is the most frequent retardation in the wealthy western countries. In other countries there is usually no such statistics, and in some poor countries famine can be an important cause to retardation.
Scientists believe that DS has been equally common in all times. They have not found any secure differences between differing races. Neither has found any links within social circumstances, economic situations and so on.
The frequency of Down syndrome is connected to the mother’s age.
Risk and maternal age – the chance of having a baby with Down’s syndrome:
17 years old 1 in ....500
25 years old 1 in ..1,400
30 years old 1 in ....800
35 years old 1 in ....380
38 years old 1 in ....190
40 years old 1 in ....110
45 years old 1 in .....30
48 years old 1 in .....10
The majority of babies with DS are still born to younger women, since the overall birth rate is higher in younger women.
During the last 20 years there has been less babies born with DS to women aged 35 or older, this is due to prenatal testing, which I discuss further on.
There are more girls than boys born with Down’s syndrome, roughly 6 boys in 5 girls. It is not yet clear why.
“Down’s syndrome may be an indicator on various unfavourable factors in our environment, which can result in damage to the chromosomes.” – Maj-Britt Sandlund, socialstyrelsen 1988 PM Down syndrome.
The reasons to retardness are usually 70% heredity and 30% depending on our environment. Apart from heredity shapes of Down syndrome it arises through mutation. Mutations are different types of changes, which have not arisen because the hereditary from both parents has been combined in new ways. Mutations can come up by chance. It can also originate because that something has damaged the cell kernel or disturbed its functions. For instance viruses can break in to living cells, herpes may also be a possible cause to Down syndrome. Different poisons, x-ray and other radiant may have the same outturn.
It is possible that one do not find the cause/reason to Down syndrome because it is not one, yet many.
Down syndrome is normally suspected soon after the birth, because a doctor, nurse or sometimes a parent recognises the characteristic features. Chromosome tests are then carried out to confirm the diagnosis.
The features which people look for include:
· Eyes that slant upwards and outwards. They often have a fold of skin that runs vertically between the two lids at the inner corner of the eye.
· A head which is rather flat at the back with a hairline that is low and ill defined at the nape of the neck, often with rather loose skin in this area.
· A face that appears somewhat flat with a flat nasal bridge.
· A mouth cavity that is slightly smaller than average, and a tongue that is slightly larger. Thus the child’s tongue may protrude, a habit that can be stopped with teaching.
· Hands that is broad, with short fingers and a little finger that curves inwards. The palm may have only one crease across it.
· A deep cleft between the first and second toe extending as a long crease on the side of the foot.
· Reduced muscle tone, which results in floppiness. This improves spontaneously as the child gets older.
· A below average weight and length at birth.
You can recognise a person with Down syndrome on the eyes, facial shape, other details or the whole face. They are often short, have rounded chins and the eyes appear to us in west to have an Asian shape. One often think that people with Down syndrome look alike and resemble to each other, and they do in many ways because they have lots of similar features.
Still there are lots they do not have in common, a few are tall (over 170 cm), etc. Most of them have straight lank hair, but none of all these distinctive features and no characteristic is common for every Down syndrome person. But everybody with DS has enough characteristics that it is obvious he/she has Down syndrome.
As with behaviour it is a general opinion that Down syndrome people are very loving and kind-hearted. Regarding each peculiarity you will find in people that do not have DS, it is the same with looks as with the behaviour.
Researches have been done to show if peculiarity in behaviour and personality are due to expectations or if it actually does originate from the gene in the 21st chromosome. A few has been confirmed, e.g. Behaviour problems due to:
- developing delays
- speech defects
- thoughts of the future
- medical problems
- others attitude
One behaviour problem can be a child’s fear for some everyday phenomenon; for instance, a child might be terrified and wet their pants when a train enters the platform even though he/she holds her parents hand. Another problem might be the child’s need for attention. Night problems are common, many children are afraid of the dark.
Attitudes towards persons with Down syndrome have historically gone through major alterations. Typical for the Western world in our time might be the scenes in the TV-series Dallas, when Donna finds out she is pregnant and after prenatal testing get to know that the baby she is carrying has Down syndrome. She wants to be delighted over her long expected child, but her man is totally negative and want to have a new baby instead, someone with better qualifications to be a successful cowboy or an oil trader...
People with Down syndrome look a little different and are in general relatively less able to do certain things than the population as a whole. Consequently, people react in different ways to those who have a learning difficulty. Some avoid contact because of embarrassment. Others are over-protective; insisting on helping with things people can do themselves.
Stereotyping and generalisations such as, “people with Down syndrome have lovely temperaments” are fairly common, but mean that those people are not being treated as individuals, as they should.
Under 1930s and 40s people had a strong faith in experts, and thought that the best thing for all disabled was to be taken care of trained personnel rather than their parents. Through the 80s and 90s most of the institutions has been put down and no disabled child are now being placed in institutions. The few children that cannot be taken care of by their parents will today be placed in foster homes.
People with Down syndrome can learn effectively. However, they will nearly always require a statement of special education needs. The trend has been towards the integration of children with Down syndrome into ordinary schools rather than the segregation in special schools. Successful integration requires support, planning and extra staffing. At primary and secondary school level a teaching assistant is generally required to support the child with Down syndrome for at least a part of the week.
Most parents to a child with Down syndrome favour integration. They fear that in special school, their child will be socially isolated, travelling long distances on a special bus and having no local friend to play with on holidays. They might also feel that it is important for their children to have the role models of children without special needs, and for other children to mix with children with a learning disability.
For some parents a special school is their first choice. They are concerned that their child should be taught in a more protected, specialised environment. Alternatively the parents may feel that the resources are insufficient to make integration successful, and so they opt for a special school.
For DS people over 19, there is increasing learning opportunities available in local and residential colleges. This can cover learning for education and employment, personal development and leisure. In Sweden we have several schools of these kinds.
Prenatal testing for Down syndrome
It is possible to find out if a pregnant woman is carrying a child with Down syndrome. The tests that do this are known as diagnostics tests. The most commonly used diagnostic test is called amniocentesis. This is usually done in the forth month if the pregnancy and involves taking a sample of the fluid surrounding the baby in the womb. It is almost 100 % accurate in detecting Down syndrome, tough carries a risk of miscarriage of around 1 in 100.
There is also screening tests available, but these do not state whether or not the unborn child has Down syndrome, instead they give an estimated chance of the baby having the condition.
Since the chance of having a baby with Down syndrome is related to the mother age, amniocentesis is offered to all pregnant women age 35 or older and to those women who had a previous child with Down syndrome.
Depending on outturn, it is the parents’ decision whether they want to have an abortion or not.
Roughly about 80 % chose to abort the foetus.
The positive thing about these tests is that parents get the chance to prepare themselves on the thought of having a retarded baby. Since some parents feel incapable to take care of a DS baby, they will chose to have an abortion, instead of being overwhelmed by a great disappointment when the baby is born.
Here follows an interview I made with Fiona Walker, Alexandra’s foster mother.
Family Walker and me. From left to
right; Trevor, Carin, Alexandra,
Fiona and Peter.
1. What was your experience of Downs syndrome before you got in touch with Alexandra’s foster parents?
- My experience was working at Templeton Psychopaediac (intellectually disabled) Hospital as an Occupational Therapy Aid for 1 year where I worked with many Downs, and then I went on to Sunnyside Psychiatric Hospital as a training nurse. I worked with many Downs there in the "handicapped" wards where lots of them lived their lives at that time. (They are now out living in the community)
2. How did you get to know about Alexandra?
- I found out about Alexandra through the Foster care society. A lady who knew I loved Downsies rang and told me there was a little girl, then 6 weeks old, whom had been abandoned by her parents at birth and was still in the hospital.
3. Who was the driving force to adopt her and why?
- Trevor, Peter and I all wanted her straight away and that hasn’t changed. She couldn’t have a better or more loving brother than Peter.
4. What were the reactions from friends and relatives? Positive/negative? And how did you respond to that?
- Most friends were supportive but several have cut ties with us now as they couldn’t really cope with our decision to adopt her. My Mum was very supportive but my brothers and sister weren’t. One brother and sister in law didn’t see her until she was 5 years old and then only by accident, my sister didn’t think I should do it at all and it completely strained our relationship and my other brother and his wife didn’t really care as long as it wasn’t them. I see all of them very rarely and they don’t ever really ask how she is or have any input into her life. I was a little hurt by the negative reactions but we all knew we were doing the right thing and have never worried about what other people think of our decision.
5. In what way has Alexandra affected your life situation?
- Dramatically. Firstly she has always taken up huge amounts of time and energy, both physical, emotional and mental to get her to achieve to be the very best she can be, we have a different marriage relationship because we always have a little girl with us as even though she is nearly 11 she is still really only 4-5 and needs such a lot of time and input. Financially she is really expensive to run. At the moment we are going to have to put in a new bathroom just for her as she grows her physical problems become more pronounced. She affects nearly every part of our life situation......but mostly for the very best and we wouldn’t change our decision to adopt her, we would do it again.
6. What types of problems have you as parents come a crossed with?
- We never get time to ourselves, we get tired of being older parents of a little girl and not having freedom to come and go as we may please. We occasionally get stupid and bigoted people saying and doing hurtful things to us about our decision to adopt her or her disability. She’s very stubborn so have to always find ways around that type of thing. We always have to fight for her rights, or for teacher aid hours and so on.
7. What are your expectations for Alexandra’s future?
- To be the very best she can be and for her to live her life to the fullest she is able to. For her to achieve respect and fulfilment in what she undertakes and for her to simply have a happy and safe life.
8. Do you think she will be able to live a life of her own (job, flat and so on)?
- YES!!! Not only live a life of her own but find a career she is capable of doing e.g.: working in a childcare centre, live independently of us but with minimal supervision, fall in love get married, have a sex life, need warmth and love in a relationship with a "like" young man. Everything I would hope for a so-called normal daughter. No different.
9. Does she have any contact with other Down syndrome children?
- She has one special D.S. friend Racheal who is one year older than her. As she gets older I would like to see her find more friends like her. That will happen at secondary school in a special unit.
10. Does Alexandra attend a school for children with special needs or a common one? How does she cope with school?
- She is mainstreamed in a normal school. She is coping very well but of course is way behind the other children her age. They all look after her though.
11. What are your academic expectations for her?
- She has to be able to read and write, count money for shopping, work on a computer and learn to use her common sense. Life skills are what we want her to learn. I don’t care whether she can write an essay on the Rise and fall of the Roman Empire!! That will not help her gain the sensible life skills she needs to get through life.
12. How is her health condition? Is it related to Down syndrome?
- Her health in general is very good. She has medication for thyroid... Ladda upp arbete
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Katrin Carlsson-Thorn 2006-05-27
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KällhänvisningInactive member [2002-11-28] Down syndrome
Mimers Brunn [Online]. http://mimersbrunn.se/article?id=1287 [2017-04-28]
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