Dawn Syndrome - Research Paper Example

?Running head: DOWN SYNDROME Down Syndrome Insert         Insert Grade Insert 15 January Down Syndrome Introduction Establishing the exact history of Down syndrome may not be easy, but one fact that indicates the disease has a long history is that, Down syndrome originates from a common error in a primary life process (Evans-Martin, 2009). This aspect alone makes it possible to predict that Down syndrome has existed as far as humans beings have lived on this earth. However, before discovery of Down syndrome, human society in the past used to put Down syndrome victims together with those individuals exhibiting intellectual disabilities and those suffering from diverse kinds of mental illnesses. This scenario continued until mid 1860s when European physician by the name John Langdon Down identified the medical disorder (Evans-Martin, 2009). Afterwards, Down syndrome was named after this physician in 1866, and since then, every effort has been made to study the medical condition, with greater aim of identifying its causes and likely treatment (Evans-Martin, 2009). At the same time, since the discover of the disorder by John Langdon Down, focus has been directed at categorizing individuals with Down syndrome differently from other individuals who may exhibit mental illness like depression. Since it was discovered, many theories have been developed concerning how Down syndrome emerges. One influential theory that has been accepted and researched by many authors in the field postulates that, Down syndrome results from maternal age (Evans-Martin, 2009). In other words, women with advanced age have been found to give birth to children who exhibit more characteristics of Down syndrome as compared to women who are relatively younger in age. Therefore, the essence of this research paper will be to look at Down syndrome in terms of epidemiology, diagnosis, treatment, and the impact it has on victims and their parents or families. What is Down syndrome? Down syndrome is a medical condition said to affect one (1) person born in every 770 births (Margulies, 2006). In USA alone, it has been estimated that Down syndrome is exhibited in about 4000 births every year and on average, estimates indicate that about 350,000 people in USA have Down syndrome (Brill, 2006). The medical condition may be seen to be ineligible, but many incidences of the disease have been reported in different countries across the world, and victims tend to exhibit abnormal physical and mental characteristics as compared to their counterparts perceived to be normal. Down syndrome can therefore be described as a chromosomal disorder that comes as a result of an error in the copying of genetic material when it is passed from parents to offspring (Brill, 2006). This scenario can be understood through the following observation; in most instances, thousands of genes take part in encoding the human body’s instructions for physical and mental development, and they are contained in forty-six chromosomes (Brill, 2006). These chromosomes are initially found in the nucleus of every cell in human bodies. When a genetic error occurs, individuals with Down syndrome have an extra copy of one of these chromosomes in many or all of their body cells. Down syndrome (DS) is perceived to be a condition that ends up changing or affecting the physical and mental development of a child. In other words, Down syndrome can be said to have ability to impair both cognitive and mental abilities of the child, as well as the physical growth. The impact of the disorder may in most cases range from mild to moderate developmental disabilities and problems (Brill, 2006). Some of the physical changes or impairments likely to be observed include, a child having short fingers, eyes that are largely slanted, palms that are deeply creased, and also other related diverse traits (Brill, 2006). At the same time, Down syndrome has been identified to be the leading cause of mental retardation among individuals, where individuals experience difficult in learning and end up learning at slower than average pace. Down syndrome is known to occur in all races, religions, and economic levels, and this therefore means that anyone, irrespective of race or social status, is likely to have Down syndrome (Margulies, 2006). Detecting or identifying the possibility of a child suffering from Down syndrome is carried out through series of screenings and tests, which makes it possible to identify Down syndrome before or after the child is born. At the moment, the primary identified causative factor for the likelihood of a child having Down syndrome is the maternal age (Brill, 2006). For example, established sources indicate that, mothers aged 30 years and below are likely to have 1 in 1000 pregnancy cases of baby having Down syndrome (Margulies, 2006). On the other hand, in mothers aged 44 years and above, 1 in 35 pregnancies is likely to results in a baby with Down Syndrome (Margulies, 2006). Causes of Down syndrome The cause of Down syndrome for a long time remains elusive, and this can be associated with lack of interest or know-how by earlier medical experts regarding the disorder. As a result, numerous theories were formulated that attempted to hypothesize the cause of Down syndrome. For example, during the late 19th century and early 20th century, medical experts had relative knowledge about Down syndrome and most of their time was channeled in describing the disorder among children and adults. Through this, the medical experts were able to identify the special medical problems Down syndrome individuals were subjected to. Nevertheless, during the same period, little effort was made to clearly identify the cause of the disorder (Margulies, 2006). As the issue of what exactly causes Down syndrome remained a puzzle among many medical experts, another theory was developed by medical authorities, where it was established that, Down syndrome individuals, also known as mongoloids, appeared to exhibit similar resemblance characteristics with people of Asia (Margulies, 2006). Moreover, patients with Down syndrome were found in large numbers among the people of Asian and African origin and among Europeans. Due to this, medical experts discovered that women with advanced age exhibited potential ability to have a child with Down syndrome (Margulies, 2006). One reason that was given for this scenario was that, after having many pregnancies, older women appear to be exhausted, a situation that was suspected to contribute to birth of children with Down syndrome (Margulies, 2006). That can be the one reason why, in most cases, children who turn out to have Down syndrome are last born. Through extensive research over time, this theory of maternal age and the likelihood of mothers giving birth to Down syndrome children appear to be true, since older women irrespective of whether they have had earlier childbirth exhibit high chances of giving birth to a child with Down syndrome. Another prominent early theory on the cause of Down syndrome was associated with tuberculosis. In this case, it was believed that children born with Down syndrome were likely to be from families in which members were diagnosed to be suffering from tuberculosis (Margulies, 2006). For instance, it was believed that when a mother suffered from tuberculosis, the child to be born exhibited high chances of having Down syndrome. At the same time, this theory was extended to such extent that parents established to be victims to alcoholism and thyroid deficiencies exhibited high potential levels of giving birth to children with intellectual disabilities (Margulies, 2006). This scenario was therefore associated and linked to emergence of Down syndrome. Furthermore, other medical experts during this ancient period were convinced that occurrence of mental or emotional stress, especially during pregnancy was likely to be the reason for many childbirth defects, hence likely to be the contributing factor for the occurrence of Down syndrome (Margulies, 2006). Despite existence of these early theories about the cause of Down syndrome, it is well known that Down syndrome is the most frequent genetic cause of mental retardation in human beings, and it has been established that it is caused by an extra chromosome 21 (Kusters, Verstegen and Vries, 2011). At the same time, individuals with Down syndrome prematurely exhibit signs associated with aging, where for instance, older people with Down syndrome become early victims of Alzheimer’s disease (Kusters, Verstegen, and Vries, 2011). Further, clinical features reminiscent of immune-senescence are observed, with higher rates of infections, malignancies and autoimmune phenomena (Kusters, Verstegen and Vries, 2011). It can be said that, human beings have body cells that contain 46 chromosomes each, and are located in the cell’s nucleus. In addition, 23 cells are inherited from the mother while the other 23 cells are inherited from the father. Therefore, in cases where some or an individual’s entire cells are found to contain an extra full or partial copy of chromosome 21, the result reflects a child who suffers from Down syndrome (Kusters, Verstegen, and Vries, 2011). Bascetta (2011) agrees that Down syndrome comes about because of chromosomal error that produces an extra copy of chromosome 21. According to the author, the extra chromosomal material influences children to develop Down syndrome, which eventually makes the child to experience mental and physical problems and later exhibit potential of developing certain medical problems. These medical problems may include hearing loss, eye disease, and congenital heart defects (Bascetta, 2011). According to statistics released by the American Academy of Pediatrics, Down syndrome results into the following medical conditions in terms of percentages. Children with Down syndrome and those who eventually develop hearing loss as a medical condition constitute 75%, while those with eye disease as medical condition constitute 60% (Bascetta, 2011). At the same time, Down syndrome children who eventually develop congenital heart defects account for about 50%, those that develop otitis media account for 50-70%, thyroid disease account for 15%, Gastrointestinal atresias 12%, acquired hip dislocation 6%, while leukemia and hirschsprung disease occurs among less than 1% of Down syndrome children (Bascetta, 2011). Types of Down syndrome In most cases, genetic error may take place in three ways, and this will be discussed in detail in the subsequent paragraphs (Kerr, 2007). The first type of Down syndrome that has been identified is known as Trisomy 21. According to research that has been carried out by majority of researchers, it has been established that majority of children diagnosed with Down syndrome (95%) exhibit an extra whole chromosome in every cell of their body (Selikowitz, 2008). The occurrence of this scenario is known as trisomy 21 and it has been found to be the most common form of Down syndrome among children born to mothers of any age (Carr and Carr, 1995). This type of Down syndrome comes about when one parent gives two number 21 chromosomes, instead of the usual one chromosome 21 (Selikowitz, 2008). As a result, the child ends up having 47 chromosomes in each cell instead of the required 46 chromosomes. Medical experts have noted that this type of Down syndrome is caused by an error that occurs during cell division known as non-disjunction (Carr and Carr, 1995). The second type of Down syndrome is known as translocation. This type is believed to account for about 4% of the cases of Down syndrome among newborns (Wright, 2010). This type occurs when there is presence of an extra part, instead of whole, of chromosome 21. In most cases, this occurs when the small top portion of chromosome 21 and another chromosome break off, leaving the two remaining portions to stick to one another at the exposed ends (Wright, 2010). When one chromosome sticks to another chromosome, the process is known as ‘translocation’. No genuine reason has been given or established as to why translocation occurs, but like in the case of dis-junction, the age of the parent is not a factor for the occurrence of this type of Down syndrome. The last type of Down syndrome is known as mosaicism (Wright, 2010). Medical experts note that this type of Down syndrome affects about 1% of children. What actually happens is that, there is always an extra whole chromosome 21 in only a proportion of the body cells, while the rest of the cells are normal (Carr and Carr, 1995). Such children are termed to be mosaicism, since the cells of their body reflect a mosaic make-up of different pieces, where some are normal while some exhibit extra chromosome. Unlike other children with trisomy 21 and translocation, mosaicism children manifest less prominent physical features of Down syndrome, and in most cases, such children develop and function just like normal children (Selikowitz, 2008). However, in rare cases, children with this form of Down syndrome can be intellectually normal. Clinical Features Numerous clinical features have been identified that characterize people with Down syndrome. In most cases, medical experts recognize the features at birth; in some instances, some children may exhibit less of these features unlike others, and in such cases, the children end up leading normal life. Nevertheless, once the medical conditions have been identified, it has been recommended that medical attention should start right away and therapy has to be initiated for many years the child may require such therapy. Major clinical features that have been identified include head and face features. Many children diagnosed with Down syndrome tend to have head that is smaller than the head of normal child. The neck is also short and in most cases, has folds in back after birth (Brill, 2006). In most cases, when children are born, they normally have soft spots on their heads and these spots are where bones failed to grow. However, in the case of children with Down syndrome, such spots are large and are soft in nature, and the spots normally take long to close (Brill, 2006). Moreover, children with Down syndrome have eye openings that slant upwards on the outside, and this is due to a fold known as epicanthic fold. The fold is further responsible for covering the inner corner of each eye, and this leads into creation of almond shape. In addition, the colored section of the eye (iris) exhibits white dots known as Brushfield spots, which occur on the outer rim. Ears of children with Down syndrome have also been found to exhibit features that are different as compared to those of normal children. In most cases, the ears appear small and sometime appear to be set lower on the head (Brill, 2006). This situation leads to fluid buildup, which blocks pathways responsible for clear hearing. As a result, DS children end up experiencing hearing loss. Moreover, facial features of DS children tend to be slightly smaller than those of children who have no Down syndrome, and also have smaller, flatter noses, which largely result into smaller nasal openings. At the same time, DS children have been found to have small mouths, a situation that sometimes makes tongue to stick out and appear to be large (Brill, 2006). On the same measure, these children are likely to have unique tooth problems, where some teeth are slow to come out and in other cases, fail to emerge completely. When teeth come out, they normally vary in size, shape or shade of color (Brill, 2006). Hands and feet are also other parts of the body that DS children are likely to exhibit unique features. In most cases, children with DS have short, think hands, and feet (Brill, 2006). At the same time, the fifth finger on each hand may curve inwards, large space than normal develop between the first and second toes, and the sole of the feet and palms of the hand display a single side-to-side crease (Brill, 2006). With regard to muscles and joints, children diagnosed with Down syndrome have weak muscles. As a result, the muscles become relaxed to extent that head and other body parts appear to flop. Moreover, there is normally little strength in the arms and legs, hence end up moving too easily. At the same time, as the children grow up, it becomes clear that they have slow mental development as compared to children without DS (Brill, 2006). Aspects like learning, sitting, walking, talking, reading, and taking care of themselves among DS children are learnt at slower pace as compared to children without. Diagnosis of the Disease Diagnosis of Down syndrome can be made before or after the child is born. In case of prenatal diagnosis, several diagnostic tests can be used although the tests carry a small risk of miscarriage (Gibbs, Danforth, Karlan, and Haney, 2008). In the case of post-natal diagnosis, identification of DS is made through chromosome analysis/screening. Some of these screening tests include nuchal translucency testing which is undertaken during the 11th to 14th week of pregnancy (Gibbs, Danforth, Karlan, and Haney, 2008). During the testing, ultrasound is used to measure clear space in folds of tissue normally found behind the neck of the child who is developing in the womb of the mother. The second type of screen testing is the Triple screen, also known as quadruple screen (Gibbs, Danforth, Karlan, and Haney, 2008). This is normally done at 15th to 18th week, and medical expert is likely to measure the quantities of normal substances in the blood of the mother. Related to this is the integrated screen, where combination is done on the first trimester screening test, either using or not using the Nuchal translucency (Gibbs, Danforth, Karlan, and Haney, 2008). At the same time, blood tests are incorporated using the quadruple screen. The last type of screen is the genetic ultrasound, which is undertaken during the 18th to 20th week. During the screen, detailed ultrasound is conducted and effectiveness is achieved when it is combined with blood test. On the other hand, diagnostic tests include Chorionic villus sampling, normally carried out between 15th and 20th week (Semrud-Clikeman and Ellison, 2009). During the diagnosis, a small analysis of amniotic fluid obtained from cervix or abdomen using needle is conducted to ascertain elements of DS. The second diagnosis is the Amniocentesis, which is carried out during the 15th and 20th week. During diagnosis, analysis is carried out on small amount of amniotic fluid, which is obtained from the abdomen of the mother. The last type of diagnosis is the percutaneous umbilical blood sampling that takes place after 20th week (Semrud-Clikeman and Ellison, 2009). During the diagnosis, a small amount of blood is obtained from the umbilical cord by inserting needle in the abdomen and thereafter, analysis is conducted to ascertain presence of Down syndrome (Semrud-Clikeman and Ellison, 2009). Treatment of the disease Observation made is that, although DS constitutes a genetic disorder, its cure remains unavailable given the complex and dynamic nature of chromosomal genes. Great volumes of research work tend to pay more attention to the causes of impaired cognition that is associated with Down syndrome. However, in the last few decades, efforts have been directed at identifying potential therapies that can be used in order to improve the general learning, socialization and self-care of Down syndrome victims (Gibson, 1978). As a result, treatment of DS is conceptualized in the management efforts that have been undertaken to reduce the impact of the disorder. In most case, management strategies in terms of therapeutic initiatives tend to recommend diverse nutritional, physical, educational, and socio-behavioral strategies that should be incorporated in managing the disorder (Cohen, Nadel, and Madnick, 2002). Nevertheless, some of the identified treatment strategies include regular checkups that also incorporate screening, medications, surgery, and counseling and support initiatives. Surgery is particularly incorporated to correct the identified heart defects among the victims and this may include surgery to rectify gastrointestinal irregularities and related health issues (Gibson, 1978). Moreover, health checkups are incorporated in order to screen for other conditions that may require attention. Such regular checkups may involve; visual impairments, ear infections, hearing loss, obesity and related medical conditions (Gibson, 1978). Lastly, education, nutritional and socio-behavioral initiatives are undertaken to ensure the individual with DS is integrated in the family and community life appropriately (Cohen, Nadel, and Madnick, 2002). How to identify talents among the DS children Down syndrome children just like other children are likely to lead a productive and meaningful life if enough support is given to them. The support to be provided to these children should aim to improve and enhance the general environment in which DS children live and interact with others. In other words, the environment has to be physically, socially, psychologically, and emotionally supportive (Aubrey, 2000). Identifying critical talents that DS individuals have can only be possible when there is productive and quality socialization with the rest members of the society and family. As such, parents and close family members are the first people to identify and nurture talents that DS children may exhibit or expose. As the children continue to grow, the school may be another avenue to identify and nurture talents of these children. In doing so, teachers and all concerned have to be aware of the medical condition of the child and device appropriate strategies of learning for the children (Sinagatullin, 2009). Through repeated and quality interaction, teachers are likely to help DS children identify and nurture critical talents. Conclusion Down syndrome is a genetic disorder that has existed as far as the human race has been in existence. The disorder was given its current meaning and conceptualization from the works of John Langdon Down. Since then, more researchers have attempted to conceptualize the disorder in-depth, and this has led to identification of the major causes of the disorder. Although great strides have been made in identifying the causes of the disease, less fruits have been realized with regard to the cure of the disease. As a result, treatment of the disorder has only been undertaken through management and therapeutic initiatives. These therapeutic initiatives have resulted into realization of improvement in the lives of DS children where they have been able to live quality and productive lives just like other children. However, even as management of the disorder becomes the appropriate means of managing DS, there is need to enhance efforts in individualizing therapeutic initiatives to ensure they fulfill the needs of each child suffering from DS. References Aubrey, C. (2000). Early Childhood Educational Research: Issues in Methodology and Ethics. NY: Routledge. Retrieved February 13, 2012 from http://books.google.com/books?id=CAcOAAAAQAAJ&pg=PA201&dq=nurturing+talents+of+Down+syndrome+children&hl=en&sa=X&ei=_Fg7T4moNYrv8AP3yaH8Cg&redir_esc=y#v=onepage&q=nurturing%20talents%20of%20Down%20syndrome%20children&f=false. Bascetta, C. A. (2011). Children with Down Syndrome: Families are More Likely to Receive Resources at Time of Diagnosis than in Early Childhood. NY: DIANE Publishing. Retrieved February 13, 2012 from http://books.google.com/books?id=W96MiPke9jYC&pg=PA6&dq=causes+of+down+syndrome&hl=en&sa=X&ei=wAc6T_umMurR0QXV5sybCw&redir_esc=y#v=onepage&q=causes%20of%20down%20syndrome&f=false. Brill, M. T. (2006). Down Syndrome. NY: Marshall Cavendish. Retrieved February 13, 2012 from http://books.google.com/books?id=iO2osN_KVV4C&printsec=frontcover&dq=down+syndrome&hl=en&sa=X&ei=ZBA5T86wO9Hn-gamnOi_AQ&redir_esc=y#v=onepage&q=down%20syndrome&f=false. Carr, J., & Carr, J. H. (1995). Down's Syndrome: Children Growing Up. UK: Cambridge University Press. Cohen, W. I., Nadel, L., & Madnick, M. E. (2002). Down Syndrome: Visions for the 21st Century. MA: John Wiley and Sons. Evans-Martin, F. F. (2009). Down Syndrome. NY: Infobase Publishing. Retrieved February 13, 2012 from http://books.google.co.ke/books?id=BJf2JgWbYoYC&printsec=frontcover&dq=Down+syndrome&hl=en&sa=X&ei=jQU6T5n6GOOy0QWeisGaCw&redir_esc=y#v=onepage&q=Down%20syndrome&f=false. Gibbs, R. S., Danforth, D. N., Karlan, B. Y., & Haney, A. F. (2008). Danforth's Obstetrics and Gynecology. PA: Lippincott Williams & Wilkins. Retrieved February 13, 2012 from http://books.google.com/books?id=v4krPhqFG8sC&pg=PA112&dq=Nuchal+translucency+testing,+Triple+screen,+integrated+screen+and+genetic+ultrasound&hl=en&sa=X&ei=l3I6T-yhG-Wv0QXRgrG-Cw&ved=0CC8Q6AEwAA#v=onepage&q=Nuchal%20translucency%20testing%2C%20Triple%20screen%2C%20integrated%20screen%20and%20genetic%20ultrasound&f=false. Gibson, D. (1978). Down's Syndrome: The Psychology of Mongolism. London: CUP Archive. Retrieved February 13, 2012 from http://books.google.com/books?id=DyQ9AAAAIAAJ&pg=PA1&dq=TREATMENT+OF+DOWN+SYNDROME&hl=en&sa=X&ei=_HM6T6CgAsTKrAfcqdXSCA&ved=0CFgQ6AEwBg#v=onepage&q=TREATMENT%20OF%20DOWN%20SYNDROME&f=false. Kerr, D. (2007). Understanding Learning Disability and Dementia: Developing Effective Interventions. London: Jessica Kingsley Publishers. Retrieved February 13, 2012 from http://books.google.com/books?id=iYayoJhWdxsC&pg=PA17&dq=types+of+Down+syndrome&hl=en&sa=X&ei=nlM7T7_QAo-W8gOfw7TsCg&redir_esc=y#v=onepage&q=types%20of%20Down%20syndrome&f=false. Kusters, M. A., Verstegen, R. H., & Vries, E. (2011). Down Syndrome: Is It Really Characterized by Precocious Immuno-senescence? Aging and Disease, Vol. 2, No. 6, pp. 538-545. Retrieved February 13, 2012 from http://web.ebscohost.com/ehost/pdfviewer/pdfviewer?vid=3&hid=13&sid=da29d4a4-3c56-4eb5-a8b8-41737f8d29c5%40sessionmgr13. Margulies, P. (2006). Down Syndrome. NY: The Rosen Publishing Group. Retrieved February 13, 2012 from http://books.google.com/books?id=IQtSg_dgoroC&printsec=frontcover&dq=down+syndrome&hl=en&sa=X&ei=ZBA5T86wO9Hn-gamnOi_AQ&redir_esc=y#v=onepage&q=down%20syndrome&f=false. Selikowitz, M. (2008). Down Syndrome. UK: Oxford University Press. Retrieved February 13, 2012 from http://books.google.com/books?id=aCO8QHF2-AoC&printsec=frontcover&dq=Down+syndrome&hl=en&sa=X&ei=Ozo6T5YTo9HRBd_0zLYL&redir_esc=y#v=onepage&q=Down%20syndrome&f=false. Semrud-Clikeman, M., & Ellison, P. A. (2009). Child Neuropsychology: Assessment and Interventions for Neurodevelopmental Disorders. NY: Springer. Retrieved February 13, 2012 from http://books.google.com/books?id=NBGSF9Jyg6AC&pg=PA334&dq=diagnosis+techniques+for+down+syndrome&hl=en&sa=X&ei=CXA6T_jSF-bF0QWg3pHJCw&ved=0CDkQ6AEwAQ#v=onepage&q=diagnosis%20techniques%20for%20down%20syndrome&f=false. Sinagatullin, I. M. (2009). Teaching is more than Pedagogical Practice: Thirty-three Strategies for Dealing with Contemporary Students. UK: R&L Education. Retrieved February 13, 2012 from http://books.google.com/books?id=k590ol_L1cEC&pg=PA122&dq=nurturing+talents+of+Down+syndrome+children&hl=en&sa=X&ei=_Fg7T4moNYrv8AP3yaH8Cg&redir_esc=y#v=onepage&q=nurturing%20talents%20of%20Down%20syndrome%20children&f=false. Wright, D. (2010). Down's Syndrome: The Biography. Oxford: Oxford University Press. Read More