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Children with downs syndrome

All children that are born with Downs Syndrome (previously called ‘mongolism’) have a common characteristic appearance and may also share similar congenital birth defects.

Dr John Downs, of whom the condition is so named after, found that children who were born with these similar characteristics and that after testing were complete. It was found that there was a common chromosome abnormality, which is known as ‘Trisomy 21’ (Cunningham, 1996).

Every pregnant woman is at risk of having a Downs Syndrome child. For example 1 in 1,000 women who are 28yrs will give birth to a child with this condition. However, the risk is much greater with a woman who is 38yrs,

increasing the risk by approximately 1 in 200 births.

Until recently, it was thought that a woman’s age was the only indicator to the risk involved. However, advances in medical practise can now carry out tests out by looking at a woman’s hormone and protein levels during pregnancy. Also with the information of the expectant mother’s age and the use of maternal screening, two thirds of Downs Syndrome infants can be identified whilst still in the womb.

Research into the origins of Downs Syndrome has been carried out worldwide all with one common question in mind; is the condition genetic, thus making it hereditary?

However, research that has been carried out has found, that children born with this condition have the same genetic makeup as a child born without the condition. However, there is one difference and that is a child born with Downs Syndrome, will have an extra chromosome.

By having just one chromosome extra is enough to tip the finely tuned balance of the human body and will in turn produce physical and intellectual characteristics that are found in Downs Syndrome.

It is commonly known that genes are passed from parent to child. And those most have two copies of every gene. In general one copy is passed on from both mother and father at the time of conception. The genes are made up of DNA (deoxyribonucleic acid). The arrangement of chemicals in the DNA strand is different for every gene (Cunningham, 1996). The genes are grouped together in long thin, thread like strands called chromosomes. Therefore, it is these chromosomes that carry the essential information, which will determine how we look, how healthy we are and whether there will be congenital defects when we are born.

This study will look at the effects of Downs Syndrome by drawing upon a number of resources of information such as the Internet, pamphlets, books and an actual case study of a child who suffers with the condition.

Genetics of Downs Syndrome

Downs Syndrome occurs when a child is born with the extra chromosome 21 materials in their cell structure.

Downs Syndrome is also known as ‘Trisomy 21’. Trisomy means that there are 3 (tri) copies of chromosome (somy) 21 (see figure, 1).

There are also three types of Downs Syndrome

1) Regular Trisomy 21- also known as Free or Standard Trisomy 21. In which all the cells carry the extra chromosome 21. 94% of people, who suffer from Downs Syndrome, suffer from this type.

2) Translocation – is where the extra chromosome 21 materials are attached to another chromosome. And only 4% of sufferers have this type of the condition (see figure, 2).

3) Mosaic – is where only some of the cells have an extra chromosome 21. This type is very rare and that only 2% of sufferers will have this type of the condition (Cunningham, 1996).

It is thought that chromosome 21 only contains 1% of the bodies’ genes. Therefor, Downs Syndrome arises from a change in gene quantity rather than a quality of genes.

It is not known why this condition occurs; it is for this reason that it is so different from other genetic disorders such as Cystic Fibrosis and Sickle Cell Anaemia. Which, the inheritance of these diseases or disorders, can be traced back through family medical histories.

However, Downs Syndrome can only be traced, through families of, less than 1% of people with the condition. These people all have rare types of Translocation (see bullet point 2, for explanation of this type) (Carr, 1995).

This could suggest that it is very unusual for parents to have more than one Downs Syndrome child or for relatives of these parents to also have a child with the condition.

Regular Trisomy 21 occurs when an unusual cell division has taken place, which has produced either an egg or a sperm with 24 chromosomes instead of 23. When this egg or sperm fuses with an ordinary egg or sperm, the first cell of the developing baby has 47 chromosomes instead of 46. This will then leave the child’s cells with 47 chromosomes.

There is no way of predicting whether a person is more or less likely to produce eggs or sperm with 24 chromosomes (Carr, 1995). The extra chromosome can come from an uneven division of the chromosomes (called non-disfunction) at either the first or second meiotic division, in either parent.

At present it is suggested that one child with Downs Syndrome is born in every 1000 total births. Also there are more conceived than are born, because the chance of miscarriage is higher if the foetus has Downs Syndrome (WHO, 1989).

As yet the reason why older women are more likely to have a child born with this condition, is still unknown. However, there are two current theories available which attempt to explain why it does happen.

Carr (1989) suggests that all women have a certain amount of extra ovum, which contain the extra chromosome. It is these extra ova’s which are more likely to be used last and towards the end of a woman’s reproductive life.

Another theory looks at the rate of Trisomic conceptions are the same at all ages, but that affected pregnancies are more likely to go full term in older women, rather than end in miscarriage?

The assumption of both these theories is that the body recognises that this is a late pregnancy and may be the last or only pregnancy that the woman can achieve. Thus the body tries to make sure the pregnancy goes to full term (Cunningham, 1996).

Parents with one child, who suffer with this condition, are usually informed that the chance of conceiving another child with the Down syndrome condition is about 1 in 100. Very few families are known to have more than one child with Downs Syndrome. So in reality the chance is probably a lot less than this statistic.

Selikowitz (1997) found that 4% of Downs Syndrome does not have an extra or separate chromosome 21. But have an additional part of chromosome 21, which is attached to another chromosome. This usually arises when the small arms of the chromosome 21 and other chromosomes break and that the two remaining long arms join together at their exposed ends. It is this process of chromosomes breaking and then fusing back together which is known as "Translocation", because the chromosome material has transferred its location. It must be pointed out that the features and characteristics of Downs Syndrome are no different from those of a child with regular Trisomy 21 (Selikowitz, 1997).

In two thirds of people with Downs Syndrome due to a Translocation, the actual Translocation was an isolated event during the formation of the individual egg or sperm involved at the time of conception. As with Trisomy 21, there is no known cause why this occurs. It cannot be predicted and is not a result of anything the parents have or not done.

In one third of sufferers who have a Translocation type Downs Syndrome, it has been assumed to be inherited from one of the parents. The parent will already have two 21 chromosomes in each cell, but one of them will be attached to another chromosome. This is known as a balanced Translocation, thus the parent is the carrier of the Translocation.

It is important to realise that there is no loss or gain of genetic material. Also, it is vital to point out that, that because such parents have the usual amount of genetic material, they have no traces of the Syndrome themselves and will never suffer from the condition. The only way these parents can ever be made aware of the risk they carry, is if they allow a Geneticist to scrutinise both sets of the parents genes (Selikowitz, 1997).

However, people who carry the Translocation ovum or sperm, it is then possible for it to be passed on both with the Translocation and the free chromosome 21 egg or sperm. Thus, the conceived child will be born with Downs Syndrome.

As there is only 4% of people who suffer with this type of Translocation Downs Syndrome and one third of this group have inherited. Only about 1% of sufferers have actually inherited the syndrome (Selikowitz, 1997).

Unlike regular Trisomy 21, Translocation occurs equally and frequently no matter what age of the parents (Carr, 1995).

When neither of the parents is a carrier, the Translocation is an isolated event nor it remains a remote chance of it happening again (genetics quote less than 1%).

However, Translocation carriers can produce children who will in turn become carriers themselves. Also they may produce children who will suffer with the said condition and in certain cases show no signs of cell arrangement at all (Selikowitz, 1997).

There is no difference in the features or ability levels of people with regular Trisomy 21 and Translocation Downs Syndrome. The only way of knowing which type a person has, is by the study of their blood samples followed up by a study of their chromosomes (Cunningham, 1996).

However, sufferers of Mosaic Downs Syndrome have an extra chromosome 21 in only some of their cells. Therefore they have a mixture of Trisomic cells and ordinary cells. It is important to point out that, the mixture can vary between very few to nearly 100% Trisomic cells. However, depending on the proportion of Trisomic cells and which parts of the body which contain these cells, individuals may be less affected both in their physical features and in their ability level than those with regular Trisomy or Translocation. As for all the types of Downs Syndrome, it is not possible to say at birth how affected a person will be. It is only time that will tell, as the child develops (Cunningham, 1996).

Mosaicism happens when an egg and sperm fuse together at the time of conception. As the cell divides and multiplies by ordinary cell division, a chromosome can go astray and a single cell with an extra chromosome 21 is formed. This cell continues to divide and multiply by ordinary cell division together with the non-Trisomic cells and a mixture of cells is formed and produced. As with the other types of Downs Syndrome (apart from where a parent is the carrier) there is no known reason why Mosaic Downs Syndrome occurs. It has also been found to happen often and equally in parents of all ages (Cassell, 1996).


Many children who suffer with Downs Syndrome actually enjoy attending their pre-school play group and it is fundamental that the basic building blocks to prepare children for the inclusion into mainstream school, can be learnt in these environments. These areas will include social inclusion, motor development, and self-help, speech and language development.

In the early years of the child’s life, the primary aim is social inclusion. This will allow the child or children to mix with other children in their local community (which is socially beneficial to all the children in that community). By this early socialising of the child will provide the early opportunities to learn from typically developing children of that age, who set the expectations for that age-appropriate behaviour and achievement.

However, many children who suffer from Downs Syndrome, will no doubt be at a lower development, social and emotional level due to their learning difficulties. They also may need additional help and support. Moreover, it has been found that, children with Downs Syndrome will and do not learn well from incidental learning and will not pick up conventions intuitively, as do their peers. So their understanding of the world will be a great deal less advanced and their behaviour may be on even par with children a lot younger than themselves. It must also be pointed out that, for any child with or without Downs Syndrome, it is much harder to make progress in cognitive areas, until they are able to behave and interact with others in a socially acceptable way and understand to respond and behave appropriately to the immediate environment. The focus of additional help and support in the early years should therefore be on learning rules for normal social behaviour (Alton, 1998). It is equally important to point out that, there are no behaviour problems unique to children with Downs Syndrome (Alton, 1998).

However, much of their behaviour will be related to their level of development. It is with this view, that when problems do occur, they are generally similar to those seen typically developing children of a younger age.

In addition, children with Downs Syndrome have grown up having to cope with more difficulties than many of their peers. Much of what they are expected to do in their everyday lives will have been much harder to accomplish due to their learning difficulties, speech and language problems, auditory short-term memory, motor co-ordination, and shorter concentration spans as a whole. The thresholds that trigger problem behaviour may therefore be lower than their typically developing peers. For example, children with Downs Syndrome are more likely to become frustrated and over anxious more easily. Thus, a child with Downs Syndrome does not lead inevitably to behavioural problems, but the nature of the difficulty makes them more vulnerable to the development of behavioural problems (Alton, 1998).

A particular aspect of problem behaviour is the use of avoidance strategies. Research has shown that, like many pupils with special needs, pupils with Downs Syndrome tend to adopt such strategies, which undermine the progress of their learning. Some pupils tend to use anti-social behaviour to distract adult attention and in doing so avoid learning. It is also recognised that they seem to be prepared to work only on tasks, which fall within a very narrowly defined cognitive range (Alton, 1998).

It is suggested that it is important to remain alert to the possibility of avoidance and to separate immature behaviour from deliberately bad behaviour. Also, to ensure that the child’s developmental, not chronological, age is taken into account together with their level of oral understanding. Thus, any reward offered also has to be taken into account of these factors (Alton, 1998).

Many children with Downs Syndrome have shorter concentration spans than their peers. They also have more difficulty in processing input from more than one sense, at any more than one time for example, copying from a white board and listening to the teacher at the same time. Thus, this factor alone inhibits their ability to focus and learn. These difficulties are particularly apparent in the early years of learning and many children with Downs Syndrome may be very distractible, thus flit from one activity to another.

This means that the less focused and the more informal the situation is, the more difficult it will be for the child to channel attention into one activity for any length of time.

However, children with Downs Syndrome do respond well to structure and routine, thus increasing their ability to learn. Teaching children with Downs Syndrome, routine and structure of their day, along with the aid of strong, clear visual clues. For example, photographs and objects with the appropriate reference can help a child with Downs Syndrome learn. By using these clues a child with Downs Syndrome can begin to understand their living environment better. Also, it has been noted that it is particularly useful in teaching appropriate behaviour for particular sessions and occasions, activities and predicting the next activities difficulties with understanding verbal explanations, also instructions are also overcome (Alton, 1998).

Activities that depend on gross, and fine motor co-ordination skills, such as sitting, crawling, walking, running, manipulating toys, feeding and drinking independently. These activities all increase a child’s opportunity to find out about their world in which they live. Therefore, it is important to bear in mind that any delay in motor development in early learning years, is more likely to restrict cognitive development. Children with Downs Syndrome who tend to have lax muscle tone (Hyptonia), need additional help in developing their motor skills thus they benefit from a wide variety of materials such as specially made spring loaded scissors, extra thick paper, chunky pencils and large knob set puzzles, also they benefit from a wide range of multi-sensory activities such as building blocks which encourage hand and eye co-ordination (Alton, 1998).

In addition to this, developing self-help skills is important, in order to prepare a Downs Syndrome child as much as possible for the demands of school life, especially as other children may "mother" them. Thus, they may need additional help in areas such as toilet training, dressing, and feeding/drinking independently. Skills such as these should be targeted through a small steps approach. Also, it is important that, there is liaison between pre-school and the home which is equally important, in order to maximise consistency.

Although most children with Downs Syndrome have some degree of speech and language impairment, most will start to speak at about 2 – 3 years old. However, the vast majority manage to communicate extremely well from an early age with very little or no use of spoken language. These language-learning difficulties tend to result in a smaller vocabulary and less general knowledge, delaying other cognitive development. Downs Syndrome children are not able to use language for thinking, reasoning and retaining information to the same extent as most 5year olds. In order to encourage and develop their speech, it is vital that every opportunity is given to aid communication and understanding. By teaching children with Downs Syndrome, to use signs and gestures is an immense aid to their understanding and their ability to communicate. At first, signs and speech are used together, as the child begins to understand the word and linking sign that is used to illustrate the word, then the sign is dropped or taken away. Often this occurs by the age of 5 years old (Alton, 1998),

Another factor to consider is that many children with Downs Syndrome suffer with some degree of hearing loss even if it is only a fluctuating one. This will also affect the development of their speech to a certain extent (Alton, 1998).


The following is a case study of a 7-year-old boy and for the purposes of this study, shall be called "Sam". Sam is a child who suffers from Downs Syndrome.

After a difficult pregnancy, Sam was born with Downs Syndrome at 38 weeks. It was a normal birth, following which he was transferred to intensive care for 7 days. Sam had a very difficult post-natal period due to the fact that a congenital cardiac defect was detected. Sam had what is commonly known as (in medical circles),’ ASVD’ Atrioventricular Septical Defect or ‘hole in the heart’. There are two types of this condition, Complete ASVD and Partial ASVD. It was found that Sam was suffering from the partial form of ASVD.

In the partial form, it is found that there is a hole between the two receiving chambers and an abnormal valve between the ventricles. In the Complete form of the condition, this hole extends into the wall between the two pump chambers and there is one single valve between the atria and the two ventricles.

The hole allows excess blood to pass from the left side to the right side of the heart. If the valve leaks, this increases the work of the heart by allowing blood to be pumped backwards into the receiving chambers as well as forwards into the arteries (Reese, 1992).

However, in the partial form of the condition, a child may be free from symptoms, unless the valve leaks significantly. In the complete form symptoms may include breathlessness, difficulties in feeding/drinking and poor weight gain in the first few months of life. It is the most common of congenital defects in Downs Syndrome sufferers (Alton, 1998).

Repair of the partial form involves patching the hole between the two receiving chambers and repairing the valve if it leaks.

In the complete form, the larger hole again is closed and the single valve is divided into two halves, the middle portions of the valves are attached to the patch. This is a major operation and needs to be conducted early in life before damage to the lungs occurs. For example, in some children, a condition occurs and it narrows the lung artery. To prevent this a banding ( a surgical procedure) can be planned in the first instance to protect the lungs from damage, thus enabling the child to grow (Reese, 1992). However, long term follow up care is required.

Too much protein in the blood, which can be attributed to the chromosome defect in Downs Syndromes, causes the heart defect. However, this can occur in any newborn child with or without Downs Syndrome.

About 50% of babies born with Downs Syndrome, are born with this congenital defect (Reese, 1992).

Sam had open-heart surgery at 4 months and grew from strength to strength. Also, Sam was delayed in his development, compared to other children of his age. This led to Sam receiving and attending skill development sessions. Where he was popular with both staff and with other children who attended the sessions.

At the age of 3 years old Sam was a very bubbly, adventurous and confident boy. Who were competent at most physical activities and tasks? He always liked to be busy and could walk, climb stairs, ride a bike and he loved running and playing.

Sam wears spectacles, which is quite common amongst other children with Downs Syndrome.

Although Sam appears to be a healthy young boy, his chest is quite troublesome in the winter months. Sam tries very hard at his everyday tasks and has learned to wash himself, brush his teeth and comb his hair. He can dress and also undress himself, but sometimes finds it difficult due to co-ordination. Sam is toilet trained and can eat with a knife and fork.

It is important to point out that, although these tasks are expected to be in use by the time a child is about 3-4 years old, due to learning difficulties in Downs Syndrome, Sam has achieved theses tasks by the age of 6 years old which is considered to be above average in these circumstances.

Sam has a pleasant and outgoing nature and mixes well with his peers. However, he does need firm discipline as he is quite strong willed and he can be quite stubborn at times. He also has a good use of language, although sometimes he gets frustrated at his own lack of fluent speech.

Sams’ parents treat him as an ordinary little boy. Before Sam was born they were made aware that Sam would suffer from Downs Syndrome and would face difficulties in life. But they decide that they were prepared to give him the love, support and care he needed. Sam has an older sister who is 10 years old and as often the case does not suffer from Downs’s syndrome, her brother also loves her dearly.

At the age of 4 years old, Sam attended a normal local education authority (LEA) nursery school. He mixed well with his peers. During his nursery school placement, Sam enjoyed communicating with both adults and his peers. He was able to take turns in activities with other children, and follow the classroom routine. Sam’s play skills continued to develop. His listening and attention skills also developed so he could sit and listen well at story time. He also enjoyed therapy sessions, provided that the activities were changed frequently. Sam could follow instructions with in the class. At this time was receiving speech therapy sessions.

The recommended approaches for Sam was that, Sam could attend mainstream school, have support from a key worker on a daily basis to carryout language programmes and to ensure that Sam had access to all areas of the curriculum. Also, support from a speech and language therapist, to develop programmes to encourage Sam’s communication skills.

However, when it was time for Sam to start primary school, the problems began for Sam’s parents.

Although a mainstream school was prepared to take Sam, the LEA was not prepared to meet his needs. It was suggested that there was no ‘carer’ to look after Sam during school hours.

Sam had been statemented at the age of 5 years old. This meant that, up to the age of 18 years old, Sam’s needs were to be met by all agencies. Sam needed speech therapy, regular assessments by educational psychologists and regular meetings with all professionals involved with his care and well-being.

Although the LEA met all the requirements of his needs before the age 5 years old, these needs were not guaranteed to be met after the age of 5 years old, if Sam attended a mainstream school.

This disgusted Sam’s parents and they were not prepared to send their Downs Syndrome son to a mainstream school without the child’s needs being met and without the a support key worker to look after him. They were also afraid for Sam’s safety if he was left alone during school hours without this help, as Sam has no fear of danger.

The parents of Sam then disregarded the LEA’s recommendation of Sam to attend a mainstream school. As a result of extensive research and exploration of options within the wider educational system. They concluded the best option was to send Sam to a school that did provide the special educational needs that Sam needed. As a result they found a school that they thought would benefit their son, in meeting his needs. This was a moderate teaching difficulty school which had the learning resources available to educate Sam. It offered smaller class sizes, thus enabling quality time with individuals on a one to one basis – which would not be available in mainstream schools. As the school was specialised, they provided specialised tutors who have a flexible and understanding approach to the individual needs that children like Sam need.

Sam’s parents found that if he attended a mainstream school he would not have any of the special resources that were provided at the specialised school they chose, thus they felt that he would be distinguished as being different from other children. So would become isolated and segregated from his peers. Sam’s parents felt they were fighting for not only his happiness but also his well being. Thus after some considerable thought they decide to apply to the LEA for a placement at the school in question.

In deciding whether Sam was eligible to attend a special-needs school, Sam had to go through assessments by many professionals. This resulted in Sam getting the all clear to apply to the school of his parent’s choice. However, this was not as easy as first hoped. Sam was refused a place at the school, as the authorities claimed that Sam was not in the catchments area for the school.

On seeking the advice of a solicitor, they decided to take the matter further. A special educational needs tribunal then resulted. This action cost Sam’s parents a great deal of money. They felt they were getting nowhere with the action. The authorities then claimed that there was a waiting list for the school they had chosen and that they could not guarantee a place for Sam.

Another set back for the family, was that the LEA had not completed the statement of special needs. Sam’s parents felt they were fighting a loosing battle!

The month was June and Sam was supposed to start attending full time school in the September, yet there was no place agreed upon as to where to send Sam. His parents felt they were not being represented properly by their solicitor thus, they decide to change their solicitor.

After a great deal of correspondence between solicitors and the LEA, a firm offer of a place was offered at the chosen school. This came as a great relief to Sam’s parents as they then knew that, the needs of their son would finally be met.

Sam started school in the September of 1998. He continues to respond well and has learnt a wide range of vocabulary, which he has, began to use in the right context. He has also learnt to read and write quite well. Sam also responds well to oral approach to numeracy. He enjoys joining in number rhymes and can match colours together. Sam is now at the exploratory and observational stage in his life. He also uses his senses for investigation. He has simple prediction skills and can explain that some animals have fur, hair or scales. Sam demonstrates a natural love of animals and can name most of their body parts. Sam also enjoys painting, gluing and using scissors. He is now also able to use a computer with adult supervision. His tracking skills are becoming quite good also, although he does tend to go astray if he is sent on a message in school alone.

Sam is now happy and settled in both his school and home life. He has built up good relationships with both staff and children in school and also his family members. He can now play collabouratly and independently. Sam has always shown a keen sense of personal hygiene. He has also won awards and certificates for his manners and his consistency to be courteous at all times.

Sam is a very popular little boy and fun to be with. Although Sam can be sometimes stubborn and if chastised, can react in a negative way, his enthusiasm for new and exciting situations and experiences is very refreshing.


Although there is extensive research to find out why Downs Syndrome occurs, there are no definite answers as to who will become a sufferer. However, great advances in medical technology can now offer choices that (until the last 25 years have been unethical and immoral), have never before been available.

Perhaps more research needs to be conducted in respect of how Downs Syndrome can be combated. Yet this stirs up more moral and ethical arguments around the world such as ‘who has the right to play god’ and also not to look at whether it can be done, but should it be done?

However, each year it is evident that more and more young adults with Downs Syndrome are beginning to live independent lives, gaining more qualifications and experiences.

It is also evident that, creating and providing better and more appropriate opportunities for the disabled in early life, they can understand the world around them. Thus, they can learn and progress to their full potential. This could be seen as a first step for true inclusion into the community and be the full contributing members of society, which any person ‘disabled’ or ‘otherwise’ long for.


As with many conditions such as Downs Syndrome, it is evident that there is a stigma attached. However, more special support and specialised teachers and tutors in local authority education facilities can rectify this. So that in the future, children can become more aware that there are people in our society that need special care and attention. Also to be made aware that, although there is a need for these special carers and their care and should not be seen as pity as so often is the case, which isolates many of the less able and disabled members of the society in which we live.

This important factor in the development of fully inclusive education for all types of people such as Downs Syndrome, is one of a shift in attitudes towards the recognition that all people, be it able or non-able bodied need to learn differently thus have the same right to education and information as their peers.

By putting these naïve statements in to context, it is meant that essentially this is the ‘social model of disability’. In simple terms, this means that it is the environment (both physically and society’s attitudes), which are the problems and not the condition that leads to physical mental impairments. With this model, the emphasis is on overcoming the negative environments so that a person with different needs, qualities and attributes can feel included in that community.

As the human race goes forward into the new millennium, is not time that we pick up those less able and carry them with us, instead of leaving them behind hoping the problem may go away ?...


Carr. J. (1995): Downs Syndrome: Children Growing Up.

London: Cambridge University Press.

Cassell. S. (1996): New Approaches To Downs Syndrome.

London: Brian Stratford & Pat Gunn.

Cunningham. C. (1996): Downs Syndrome: An Introduction For Parents.

London: Souvenir Press.

Rees. P. (1992): Heart Children.

Surrey: Heart Line Association.

Selikowitz. M. (1997): Downs Syndrome: The Facts.

London: Oxford University Press.

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