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Introduction Down syndrome is a genetic medical condition that is most common among live births across the world. It exists in three different forms but the most common type is the Trisomy 21, which is a congenital or developmental disorder in which extra genetic material causes delay in the physical as well as mental development of a child. Research studies have shown that Down syndrome affects 1 in every 800 babies. Under normal circumstances, a baby inherits genetic information from the parent in the form of 46 chromosomes: 23 chromosomes from the father and 23 from the mother (Wishart, 7). A child develops Down syndrome when in one way or another ends up with more chromosomes in one cell than it is expected normally i.e. the baby ends up having 47 chromosomes as opposed to the expected 46. It is this extra chromosome that causes the development of unique features and other developmental features associated with Down syndrome. At birth a child with Down

syndrome is likely to have the following features; low muscle tone, a face that appears flatter with eyes slanting upwards, small ears and a wider neck than usual. These children are likely to develop heart problems affecting the heart, digestive system and general development problems. Additionally, Down syndrome is characterized by intellectual disability; the child will develop and learn at a slower pace than usual thought his life (McConnaughey, 110). This paper will concentrate on discussing Down syndrome i.e. the causes, characteristics and the

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sort of effects it has on both the patient and the family not forgetting to; touch on the curative measures that can be taken. Genetic changes related to Down syndrome Every human cell, except the egg and the sperm cell has 46 chromosomes made up of 23 pairs. These chromosome pairs are numbered according to their size from number 1 to 22, with two sex chromosomes X in the females and Y in the males. When the sperm and egg cells are formed, the chromosome pairs separate so that there is only one pair in these cells i.e. 23 chromosomes instead of 46 chromosomes (Philip, 33). During fertilization, the egg and the sperm come together to form 46 chromosomes just like they are in their parents. In some cases, during the formation of the sperm and the egg, a mistake occurs causing the pairs to fail separating in ordered fashion. Consequently, an egg or a sperm with 22 or 24 chromosomes are formed. If an egg or sperm carrying 24 chromosomes combine with a sperm or egg with 23 chromosomes, it will result in the formation of an individual with cells containing 47 chromosomes as shown in the figure below.

24

23

47

Cases where there are three copies of a particular chromosome in a cell rather than the normal two is referred as trisomy.

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Genetics involved in Down syndrome The occurrence of the extra chromosomal material comes about in three distinct ways. A distinctive human keryotype gene is designated as 46, XX, or 46, XY, and this indicates a series of 46 chromosomes in an XX arrangement in females or 46 XY arrangements in males. The presence of an extra copy of chromosome 21 causes intellectual and physical characteristics of Down syndrome (Thomas, 62). In 95 percent of all cases of Down

syndrome, the extra copy of chromosome 21 is present in all the cells of new is present in all cells. This extra produced chromosome 21 occurs in three ways; trisomy 21, mosaicism and translocation. Trisomy 21 caused by amitotic non disjunction whereby a gamete either the egg or the sperm is produced with an extra copy of chromosome21. The distribution error of chromosomes occurs at the time of egg or sperm production or during fertilization. Consequently, the child ends up having extra chromosome 21 in all its cells (Philip, 41). Trisomy 21 This is the most common type of Down syndrome reported in more than 90% of all the children suffering from Down syndrome. This condition is mostly as a result of all the cells within that child having more than the required chromosomes. This condition is usually referred to as full trisomy 21 Downs syndrome. This condition is well known for the sort of complications that it brings about and especially how it affects physical as well as intellectual performances (McConnaughey, 111). Mosaicism Secondly, in about 1 percent of all cases of Down syndrome, the mistake in the distribution of chromosomes in cell division occurs shortly after fertilization of the egg by the

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sperm leading to a mixture of cells with different chromosome pattern, something known as mosaicism (Wishart, 8). This means that some individuals with Down syndrome have body cells containing 47 chromosomes because of the extra copy of chromosome 21, while others have body cells with 46 chromosomes, and these individuals as said to be mosaic for trisomy 21. The number of cells with an extra copy of chromosome 21 will determine the severity and the characteristics of Down syndrome condition that one is likely to exhibit. It is worthy to note that this form of Down syndrome is actually the rarest (Harris, Kasari and Sigman, 609). This form of Down syndrome can have serious affects on blood cells, gametes as well as the skin cells. As already mentioned, this form of Downs syndrome is very rare something which is made worse by the different symptoms which individuals suffering from it might show. The only way in which mosaicism can be diagnosed is by microarray analysis also known as chromosome evaluation (Thomas, 64). After the evaluation has been carried out it is always advisable to have a repeat of the test carried out in order to ascertain the results as well as identify the severity and type of mosaicism the patient might be suffering from after which the necessary treatment might be prescribed. Prognosis will largely depend on the severity of the mosaicism and also the sort of tissues affected even though it is usually a very difficult task of predicting how it will affect the individual. This is because patients found to have very high percentages of abnormal cells may physically appear as the same as normal people suffering from typical disease. It has also been found out that patients with very low levels of the abnormal cells might not even notice that they have such infections may be until they give birth to a child with the typical disease. Even though there are no ways known to prevent mosaicism it is very much possible for individuals with mosaicism to give birth to children with normal chromosomes (McConnaughey, 113).

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Translocation trisomy 21 Thirdly, 4 percent of those that suffer from Down syndrome have an extra copy of chromosome 21 that is attached / translocated to another chromosome i.e. a chromosome may attach a part of itself to another chromosome in the cell. This means that an extra part of chromosome 21 is involved in the replication process rather than the whole chromosome being involved. In this case, chromosome 21 is usually attached to another chromosome, and this is often chromosome 14. It is worth noting that a person with such a translocation is phenotypically normal. Besides, this type of Down syndrome is an inherited form of Down syndrome and it is also referred to as familial Down syndrome i.e. it can be passed from the parents to children. Due to this there are certain people who act as carriers i.e. they do not have any symptoms that might be used to indicate as having the condition but end up passing them to their children (Harris et al., 610). The duplication of a portion of chromosome 21 is likely to cause Down syndrome. This is because it leads to the creation of extra chromosome copies and if the duplicated region has genes responsible for Down syndrome cognitive characteristics consequently causing Down syndrome (Philip,53).

The figure above shows a cell from a female with trisomy 21. This cell has 47 chromosomes including three copies of chromosome 21 instead of the usual two ( Source:www. Genetics.edu.eu)

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Figure 2 above shows the three types of chromosomal abnormalities

The risk of a child having Down syndrome Research has established that Down syndrome occurs in about 1 in every 800 newborns. Moreover, as a woman gets older, the chance of having a child with Down syndrome increases. Particularly, women who are 35 years and above at the time of delivery are likely have an increased chance of having a baby with Down syndrome. Other factors apart from the age of the mother that might result to a child suffering from Down syndrome include one of the parents being exposed to radioactive materials, mothers who are addicted to smoking, and having the mother being exposed to some infective microorganisms the sorts of viruses among many others. Despite the fact that these mentioned environmental conditions result to babies being born with Down syndrome there are no concrete reasons as to how they affect the genes and result to the condition (McConnaughey, 114 -115).

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Chances of Down syndrome occurring in a family Notably, most cases of Down syndrome are not inherited, and the chances of Down syndrome occurring twice or more in a family greatly depends on its genetic causes. If the condition is caused by trisomy 21, chromosomal abnormality occurs as a random event during the formation of reproductive cells. Thus the likelihood of having any additional risk is low as compared to the age risk of the mother. Secondly, for a woman with a child with a translocation involving chromosome 21, there is an extra risk over her age risk in having another child with Down syndrome (Philip, 55). Besides, the risk is dependent on the type of translocation involved, and whether it has been inherited from one of the parents. Down syndrome has been described as the most common type of chromosomal abnormality that is experienced in live births across the world. Apart form the genetic make up of the condition there are several environmental factors that might result into a couple having a baby suffering from the syndrome. Most of these factors have been discussed above. Characteristics of Down syndrome in children The characteristics of Down syndrome can largely be grouped into physical and medical, behavioral, intellectual and language. The physical and medical include the sort of symptoms that can be observed such as the baby having a round face, head shape, as well as feet and hands. It is worthy to note that most of these physical and mental characteristics do not have any major implications on the development and growth of the child including their learning abilities. Research studies have not even linked any connections between the babys mental ability and the number of distinctive features he or she might be having even though hypotonia might affect the learning and development of the most of the babies diagnosed with Down syndrome (Jobling and Mon-Williams, 227).

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Other physical features include; the eyes of the child might appear as if pointing tend to be upwards with a small skin fold running between the nose and the corner of the eye, the hair may appear to be generally soft and sleek, most of the new born babies with Downs syndrome will tend to have additional folds in their neck which tend to go away as they grow, the size of the oral cavity tends to be smaller than usual with a slightly big tongue, the hands are often broad with small fingers and lastly the limbs and necks of small children are limp due to the weakness in muscles (Thomas, 65). Most of the intellectual characteristics resulting from Down syndrome such as mental retardation cannot be treated even though it is very possible to have their effects reduced by use of psycho-educational methods. The language characteristics mostly involve a child suffering from the syndrome not being able to communicate effectively like the normal children of the same age. It is assumed that these difficulties in expressive language are due to difficulties associated with loss in hearing, structural differences and oral-motor hypotonicty not to mention the difficulties of auditory processing (Philip, 67). Apart form the speech being delayed it is also accompanied by minor errors which make it unintelligible. Research studies have associated this with the size of the tongue, ear infections especially if they are frequent and low muscle tones. Due to this a number of children suffering from Downs syndrome may tend to rely more on their visual senses rather than on their auditory. Behavioral characteristics result as a combination of the already mentioned factors only that they tend to decrease as the baby grows past infancy (Jobling and Mon-Williams, 229-231).

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A picture showing a characteristics of the face, foot and hand a child suffering Down syndrome ( Source:www. Genetics.edu.eu)

Effects of Down syndrome There are several effects that the condition of Down syndrome might have on both the patient i.e. the baby as well as the family. According to Wishart (10) despite Down syndrome being common instances where it is misconceived could lead to stereotyping something which will affect both the parent and the child. On the part of the child, effects might be in the form of low expectations which could in turn lead to low performance especially in education. Other effects include psychological especially where the parents get concerned about their child not to mention the financial implications of the condition that the family will suffer. Due to this, screening is usually done before the child is born to ascertain whether he has any chromosomal conditions or not and if found the parents are then given the chance of choosing to abort the fetus or have the child. In the United States it has been found that most of the parents who undergo screenings and find their children having Down syndromes they prefer to terminate the pregnancies rather than having the child. There are several programs that have

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been set up n order to aid parents who want to go ahead and have the baby with the condition. The extent to which detection of the syndrome will be rendered as useful will depend mostly on the preferences and option the parents might have (Thomas, 66). The other major effects of Down syndrome include; heat problems where a very large proportion of babies suffering from Down syndrome are thought to be suffering from heart related problems, eyesight problems such as eye infections, long and shortsightedness among others, hearing problems, leukemia is also another problem that has been associated with babies suffering from Down syndrome, thyroid, digestive disorders, psychological, Dementia, and oral health problems are some of the other problems that have been identified as being prevalent among Down syndrome patients (Wishart, 48-49). Cure for Down syndrome Currently there is no known cure for Down syndrome even though many of the physical symptoms may be treated. Special intervention programs can also be initialed to assist the individuals develop their potential. It is important to note that children with this condition are able to do many things by their own such as walking, dressing, talking and being toilet trained (Philip, 87). In an effort to help parents several programs such as having expectant mothers undergo screening before delivery and choosing to abort a fetus suffering from the condition or have the child after thorough counseling have been initiated in a number of countries.

Conclusion Down syndrome is one of the most chromosomal conditions that affect newborn babies. Down syndrome is characterized by intellectual delay, distinct facial features,

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problems with the functioning of the heart and problems in the digestive tract. Down syndrome is basically due to one of the following reasons: 1. An additional copy of chromosome 21(trisomy 21) in all the cells of the body,

and this appears in approximately 95 percent of the cases. 2. An additional copy of chromosome 21 in some of the cells i.e. mosaic trisomy

21, and this appears in 1 percent of the diagnosed cases. 3. A chromosomal translocation involving chromosome 21 and this appears in

only 4 percent of the diagnosed cases. It also important to note that the chances of having a child with Down syndrome due to trisomy 21 increases with the age of the mother. As mentioned in the discussion above, there are a number of other factors which might result into an expectant mother giving birt to a baby with Down syndrome. Additionally, the translocation type of Down syndrome is an inherited disease that can run in families. Moreover, current research on Down syndrome indicates that trisomy 21 is the single most common chromosomal condition. Currently there is no any single known cure for Down syndrome even though some intervention measures such as psycho-education can be adapted to help the baby grow normally.

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Work cited Harris, S., Kasari, C., & Sigman, M.D. Joint attention and language gains in children with Down syndrome. American Journal of Mental Retardation, (100) 608-619, 1996. Jobling, A., & Mon-Williams, M. Motor development in Down syndrome: A longitudinal perspective. In D. J. Weeks, R. Chua, & D. Elliott (Eds.), Perceptual motor behavior in Down syndrome. Champaign IL: Human Kinetics, pp. 225-244, 2000. McConnaughey, F. Your babies' development. In K. Stray-Gundersen (Ed.), Babies with Down syndrome: A new parents guide. Kensington, MD: Woodbine House, pp. 109131, 1986. Philip, M. Down Syndrome: genetic diseases and disorders. The Rosen Publishers: New York, 2006 Thomas, H. Trisomy 21: Down syndrome: Health journal .62-66, 2009 Wishart, J. G. Early learning in infants and young children with Down syndrome. in L. Nadel (Ed.), The psychobiology of Down syndrome. Cambridge, MA: The MIT Press, pp 7 -50, 1988.