Primary Characteristics of the Down's Syndrome - Essay Example

Down’s syndrome Order No: 213708 No. of pages: 7 Premium 6530 Introduction: DOWNS syndrome (DS) or trisomy 21 is the most common genetic cause of mental retardation.” (Coyle, J. T.,1986). According to Chen, 2007, Down’s syndrome (DS) is the most common chromosomal disorder in humans. Development of the DS brain is associated with decreased neuronal number and abnormal neuronal differentiation.” Colon, E. J. (1972) Becker, L., et al. (1991) The history of its knowledge dates back to the nineteenth century, when Down described the clinical characteristics of this syndrome, and as a result of which this disorder is named after him. Besides mental retardation, the other characteristic features of DS are mental dysmorphic facial features, and phenotypic traits that are distinctive (Chen, 2007). Primary characteristics of the Down’s syndrome: The Down’s syndrome poses a real challenge to all sectors of health care providers as the incidence of this disease occurs one in every eight hundred live births irrespective of race or class. Children with Down’s syndrome have a real setback when compared to normal children and are unique where their growth and development and medical aspects are concerned. It is considered as one of the most frequent genetic causes or disturbances resulting in different levels of mental retardation in children depending on the severity of the disease. The causes for this kind of neurodegenerative process in DS are still unknown. According to a report, it is believed that there are great differences between the cortical neurons from a DS fetal and age-matched normal brain, but the neurons of the DS fetal degenerate subsequently and undergo the process of apoptosis whereas normal neurons remain viable and in tact. During invasive testing of mothers who were over the age of 35, it was found that “there is an increased miscarriage rate after first trimester invasive testing and a high spontaneous loss rate of chromosomally abnormal fetuses between the first and second trimesters and term (Macintosh MCM. et al., 1995) The results also showed 80% detection of Downs syndrome, and that about 7% of women will be ‘Downs positive’ (a risk of 1 in 400 or higher) and who will have to undergo an early invasive test with a risk of miscarriage of about 2% to find out if they have Downs syndrome, out of which about 50% of them would never be born. . The genetic defects associated with DS are an extra chromosome 21 found in all cells in ninety-five percent of the cases and translocation and mosaicism in the remaining five percent. There are a variety of congenital malformations and medical conditions that are found with DS. (Van Cleve & Cohen, 2006). Other associations of this disease are Cardiac defects which are present in nearly half the children with DS, and which primarily consists of atrio-ventricular defects. The most significant factor that is responsible in determining the longevity of life in DS is congenital heart disease. There is speculation that the high mortality witnessed in DS may be the consequence of premature aging (Chen, 2007). Other defects that frequently occur in Down’s include mid-facial hypoplasia, large adenoids or tonsils, narrow hypo-pharynx and ear canals, small or badly formed teeth, and hypotonia of the smooth muscle of the upper tract are other anatomic abnormalities that frequently occur in DS. These anatomic abnormalities could consequently lead to other complications such as otitis media, conductive hearing loss, obstructive sleep apnea and neurological problems. Ophthalmologic conditions frequently associated with DS include strabismus, accommodative esotropia, myopia, hyperopia, and blepharitis. Other implications that are quite frequent include an increased incidence of thyroid disease and other autoimmune conditions. Down’s also affects the ligaments, bones and muscles in the musculoskeletal system causing musculoskeletal disorders that include poor mass density of the muscles and ligamentous laxity that usually occur at the joints leading to major problems of the hip, knee and shoulder. Down’s syndrome also affects the whole digestive tract leading to various Gastro- intestinal disorders like constipation, gastro-esophageal reflux, and celiac. Patients have great difficulty in digesting their food due to indigestion and constipation. Dermatologic conditions are another problem associated with DS. Different areas of the skin become rough and dry and in some places the skin becomes very thick and lesions occur quite often. Some of the most obvious problems associated with DS are Neuro-developmental disorders which include attention deficit/hyperactivity disorder and autism spectrum disorder that occur in association with psychiatric disorders such as depression and obsessive-compulsive disorder. There is a strong link between DS and Alzheimer’s disease. Increased incidence of Alzheimer’s disease is believed to occur in individuals with DS (Van Cleve, Cannon & Cohen, 2006). The life expectancy associated with DS is much shorter than the life expectancy of a normal individual and what is most remarkable according to Potter, (2008), is that “all Down’s syndrome individuals develop Alzheimer’s disease by the age of 40”. The chief cause of Alzheimer’s disease is the result of the damage caused or in other words the death of the neurons that occur in regions of the brain that are involved in the systematic processes of memory and cognition. Therefore it is extremely important to take extra care from the infant stage itself. Children with DS are invariable extremely slow to speak, understand or learn things because their memory and cognition is badly affected due to brain damage. Therefore, to develop or enhance a child’s communicative skills and social competency from the very onset is vital and crucial. Individuals who have neuro-developmental disorders like Autism and Down’s syndrome are capable of adjusting to independent or quasi- independent settings depending on the social skills and cognitive factors that have been inculcated from the early stages. Family members and other loved ones play a major role in the lives of children with DS because they need a lot of understanding and care from them. Families who have children that are handicapped because of this disease are often filled with warmth and compassion and exhibit a lot of understanding and humor in all their interactions. Handicapped children who exhibit more emotional or social control contribute significantly to harmony in family life, unlike children who are unresponsive or explosive. Therefore the extent to which an individual develops or matures depends largely on the social competence displayed or exhibited by the individual. The mechanism involved in Alzheimer’s disease is yet to be clearly established. A clue in this direction was provided with the finding, that those individuals with DS, who live to 40 and beyond, develop brain neuropathology that is the same as that seen in classical Alzheimer’s disease. This gives rise to the possibility that the chromosomal disorder of three copies of chromosome 21, from the time of conception in place of the normal two copies of chromosome 21 associated with DS may be sufficient to cause Alzheimer’s disease in the later stages of life (Potter, 2008). Considering the high risks of various diseases children with DS get, it is no wonder that mortality rates too are very high. Approximately around 15% of the infants born with DS die even before they complete one year and only fifty percent live beyond the age of fifty with the most significant factor responsible for this high mortality rate being the congenital heart disease. Research continues into trying to identify the gene or genes that are responsible for the several medical conditions associated with DS, like Alzheimer’s disease, so as to enable an understanding of why individuals with DS are susceptible to the strange medical conditions associated with DS (Sample, 2004). Conclusion: DS is a chromosomal disorder in humans, which gives rise to a variety of congenital and medical conditions, one of which is Alzheimer’s disease. All individuals with DS, who live to the age of forty and more develop Alzheimer’s disease. The inevitable link between DS and Alzheimer’s disease with advance in age, suggests that the genetic disorder associated with DS is also sufficient to cause Alzheimer’s disease. It is also believed by health care planners that nuchal translucency screening for Downs syndrome patient’s has a good cost- benefit ratio which could be easily adopted into the routine services of a hospital. The importance of research in pre- natal screening and diagnosis is inevitable in order to find better methods in order to identify fetuses that are afflicted by the Downs syndrome, and thereby reduce or prevent the need for conducting amniocentesis. The other areas of clinical research are the association of the Down’s syndrome with that of Alzheimers and celiac diseases. The Medical fraternity should have a systematic and organized approach in their assessment and monitoring of this disease. Vigilance at the time of inspection of mothers over 35 years would help to prevent a child with DS being born. Science and technology has advanced so much and resulted in the improvements made in medical care have all contributed to a much better quality of life for individuals suffering from Down’s syndrome. Literary References Becker, L., Mito, T., Takashima, S. & Onodera, K. Prog. clin. biol. Res. 373, 133−152 (1991).  Chen, H. (2007). Down Syndrome. Retrieved March 9, 2008, from, emedicine Web Site: http://www.emedicine.com/ped/topic615.htm Colon, E. J. Neuropediatrics 3, 362−376 (1972). Coyle, J. T., Oster-Granite, M. L. & Gearhart, J. D. Brain Res. Bull. 16, 773−787 (1986).  Macintosh MCM, Wald NJ, Chard T, Hansen J, Mikkelsen M, Therkelsen AJ, Petersen CB, Lundsteen C. (1995) Selective miscamage of Downs syndrome fetuses in women aged 35 years and older. Br J Obstet Gynaecol 1995; 102: 798–801. Potter, H. (2008). Downs Syndrome and Alzheimers Disease: Two Sides of the Same Coin. Future Neurology, 3(1), 29-37. Sample, I. (2004). Downs syndrome breakthrough. Retrieved March 9, 2008, from, THE HINDU Web Site: http://www.hindu.com/seta/2005/10/06/stories/2005100614341600.htm Van Cleve, N. S. & Cohen, I. W. (2006). Part I: Clinical Practice Guidelines With Down Syndrome From Birth to 12 Years. Journal of Pediatric Health Care, 20(1), 47-54. Van Cleve, N.S., Cannon, S. & Cohen, I. W. (2006). Part II: Clinical Practice Guidelines for Adolescents and Young Adults With Down Syndrome: 12-21 Years. Journal of Pediatric Health Care, 20(3), 198-205. Read More