9 Aug 2022

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Down Syndrome: Causes, Symptoms, and Treatment

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Academic level: College

Paper type: Research Paper

Words: 963

Pages: 3

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There are a number of factors that shape the development of children. Genetics is one of these factors. It is common for parents to pass on certain traits to their children. While genetic inheritance is a natural process that facilitates development, it can also expose children to certain developmental difficulties. Down syndrome is one of the results of faulty genetic composition. This condition causes children to suffer developmental challenges that they grapple with throughout their lives (NIH). While the condition remains without a cure, there are some measures that parents can take to offer their children more comfortable lives. This essay explores down syndrome. Some of the issues that are discussed are the signs and symptoms and the management approaches available to sufferers of the condition. 

How Down syndrome develops and statistics 

As mentioned above, genetics is responsible for the development of Down syndrome. It is important to note that this condition is not necessarily inherited. There are some parents who have had children with the condition despite lacking any history of the condition in their families (“What is Down Syndrome?” n.d). Children who develop this condition have defects in their chromosomes. Normal children have 46 chromosomes while children with the condition have 47. The additional chromosome causes alterations in how the child develops. Down syndrome comes in three varieties: translocation, trisomy 21 and mosaicism (“What is Down Syndrome?” n.d). While these three types are different, they all involve error in cell development. Down syndrome is a rather common genetic condition. In fact, of all genetic conditions, it is the most common. It is believed that as many as 200,000 individuals in the United States suffer from this condition (NLM, 2016). Another key statistic that highlights the prevalence of the condition in the US is the number of children born with the condition. This number stands at 691 (“What is Down Syndrome?” n.d).While the number may appear small, it must be remembered that this is a lifelong condition that causes great difficulty for sufferers. There are a number of factors that have been shown to expose children to the development of this condition. Advanced maternal age is one of these (“What is Down Syndrome?” n.d). If a mother becomes pregnant at 35 or higher, their child faces an increased risk of developing Down syndrome. A history of the condition in the family is also a risk factor. 

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Signs and symptoms 

Intellectual impairment is perhaps the most recognizable symptom that accompanies Down syndrome (NIH, n.d). All sufferers of the condition encounter learning difficulties as a result of cognitive impairment. They are also unable to maintain attention for long spans and are unable to demonstrate good judgment. Additionally, those with the condition exhibit impulsive conduct and they take longer to grasp language and develop speech mastery. The intellectual impairment is usually accompanied by some physical symptoms. Poor muscle tone, short neck, flat face and short hands that are rather wide are some of these symptoms (NIH, n.d). Sufferers of the condition can also be identified through their small heads and such other features as mouths and ears which tend to be unusually small. Their eyes also slant upwards and they usually have Brushfield spots (NIH, n.d). These spots are white in color and they may be seen in the part of the eye that is colored. When one observes the toes of those with the condition, they may spot a deep grove that sits between the first two toes. In addition to the symptoms mentioned above, children with Down syndrome tend to experience physical growth at a rather slow pace (NIH, n.d). The slow pace of development also makes it difficult for these children to perform such tasks as sitting and standing. The difficulty in performing these tasks can be blamed on the poor muscle tone that characterizes Down syndrome. The symptoms mentioned above are the main ones that children with the condition exhibit. However, it is important to add that Down syndrome exposes children to the development of other conditions. These conditions include autism spectrum disorder and heart problems. Children may also develop hormonal problems, hearing problems and the loss of vision, among other health conditions (NIH, n.d). 

Treatment and management 

It has been mentioned already that Down syndrome remains without a cure. However, this is not to say that children suffering from the condition should be at its mercy. There are a number of measures that parents and physicians can institute to minimize the impact of this condition and to boost the development of sufferers. Pharmacological approaches are among the measures that can be instituted. Essentially, these approaches involve the administration of medication with the goal of boosting the cognitive capacity of children (Rondal, Perera & Spiker, 2011). It should be noted that the medical community is yet to fully understand Down syndrome. Therefore, pharmacological approaches are in the infant stages of development and do not necessarily deliver success. These approaches are most effective in tackling the ‘opportunistic’ conditions that are developed by the sufferers of Down syndrome. Non-pharmacological approaches hold the greatest promise of ensuring that children with Down syndrome enjoy meaningful and comfortable lives (Clark & Griffiths, 2008). Support from family is one of these approaches. Parents need to love their children and be present in their lives. These children are usually unable to perform basic tasks and this highlights the need for parents to remain actively involved. Therapies that help with such functions as walking are recommended. While these therapies do not address all the symptoms that the children with the condition present with, they at least allow them to achieve some level of independence. 

In conclusion, Down syndrome continues to baffle the scientific community. Despite the immense effort that has been committed to shedding light on this condition, this community is still far from fully understanding the condition. However, there are some elements of the condition on which clear understanding has been gained. These include the symptoms that sufferers of the condition present with. The medical community has also gained some insights into the measures that can be taken to manage the condition and enhance the experiences of sufferers. More effort is needed to fully understand this condition. 

References  

Clark, L., & Griffiths, P. (2008). Learning Disability and other Intellectual Impairments: 

Meeting Needs throughout Health Services. Hoboken, NJ: John Wiley & Sons. 

National Institutes of Health (NIH). (n.d). Retrieved 2 nd November 2016 from 

https://www.nichd.nih.gov/health/topics/down/conditioninfo/pages/symptoms.aspx 

Rondale, J., Perera, J. Spiker, D. (Eds.). (2011). Neurocognitive Rehabilitation of Down 

Syndrome: Early Years. Cambridge, UK: Cambridge University Press. 

US National Library of Medicine (NLM). (2016). Retrieved 2 nd November 2016 from 

https://ghr.nlm.nih.gov/condition/down-syndrome#statistics 

What is Down Syndrome? (n.d). Retrieved 2 nd November 2016 from 

http://www.ndss.org/down-syndrome/what-is-down-syndrome/ 

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