Down Syndrome: Characteristics, Causes, And Implications

XM0171 Linguistics and English Language

Features

The most influencing chromosomal condition to the infants is the Down Syndrome which has proved to be the highest known among the very many. In a study carried out, a total of over 691 children were found having the condition with an equivalent of another 400,000 personnel in the adult category living with the Down Syndrome in and around the United States of America. The occurrence of this disease or rather the condition is seen to be more prevalent to the young men compared to the ladies within the same category. The use of the physical features to identify the condition of the babies during the birth is of importance to be analyzed in a keenly manner so as to find out the articulation shift of the Down Syndrome (Antonarakis  2017). On the other hand, more stress should be added to some other factors so as to avoid being misled by the physical attributes of the disease. Once the syndrome is considered physical, the use of hereditary karyotyping is put into place so as to get the full decision based on the chromosomal quantities that are present within the eukaryotic cells of the body, (Hill et al  2016). The introduction of the hypotonia in the normal physical conditions of the chromosomes need to be observed so as to rouse the good results of the quick evaluation of the condition.

Throughout the population, Down syndrome has proved to come along with some moderated highlight. The main features of consideration with the clear understanding of the topic are, the capabilities of learning in a general form, the irregularities witnessed in the craniofacial and through the early stages, the occurrence of the hypotonia, (Antonarakis 2017). Variations in the phenotypes influences the way in which the people having Down syndrome including the atrioventricular heart septal and the leukemia. Once an individual is taken by the Down syndrome, there are some physical changes in the body such as the reduction in the jaw size, the eyes become inclined and with a very poor muscle tone. Some other qualities that could be considered to result from the Down Syndrome include the nasal scaffold and a protruding caused by the expansive tongue with a small mouth.

This research paper ought to analyze the following research questions:

1. What are the hearing features for the people living with the Down Syndrome?
2. What are the otologic pathologies causes of the Down Syndrome.

Chromosome 21 in the human body is the main cause of the Down syndrome, this is caused by the differences in the level of the gene’s location within the human body. Scientist gets to be motivated by the research since most of the Down Syndrome affecting the humans have not been fully checked, (Gilmore & Cuskelly 2018). From the early onset of the Condition, we tend to wonder why small children are the ones being victims of this, genes such as the APP, the amyloid precursor protein and the phosphatidylinositol provides the integral protein membrane that is made up of the concentrated synapse and the neuron which are the root increasing cause of the Down syndrome among the individuals (Wiseman et al 2015). The mental behavior of the human being has been tested several times by the use of the mouse models which have brought out clearly the observation of the basal forebrain degeneration.

The Current Review

The Down System hallmarks are the variability at the way in which most of the people living with an extra chromosome of the cell 21^st existing in every cell. Through this, we will be able to explain further to the parents whose children are affected with the disease or rather the condition of the Down Syndrome, (Valkenburg, Tibboel & Van Dijk 2015). Through this, we will say that there is a need to create awareness so that the can take earlier measure in the diagnosis of the condition. Quick responses to this earlier identified problem will bring more positive impact at the later stages of life. Once the condition is checked earlier will prevent the occurrence of the same at later stages of life. To evade from this, the small children need to be treated quickly since it comes along with some easily identifiable characteristics including a low cognitive mode of development where a child becomes slower in capturing some small issues like the basic learning such as to walk or crawl all the way upwards to the class learning as a result of this, the students thinking spans will be greatly affected.

The major cause of the mobility among the small children living with the down syndrome is as a result of some respiratory conditions that include following pneumonia, bronchitis and to more extend the obstructive of the child’s sleep, (Coskun et al 2017). The reason as to why we get almost more than half the number of patients in most of the hospital is due to this Down Syndrome condition. The stated congenital disease of the heart is considered the most cause of the deaths among the small children. During the sleeping hours, the obstructive sleep apnoea involving a partial or totally a complete lack of sleep in being reported to be over sixty percent with the Down Syndrome. On the other hand, disability issues are brought up by the problems of ophthalmological the condition. This is evident from the look in which more of the peers have been seen wearing glasses compared to their other friends giving us the clear meaning of the condition. Earing problems is yet another factor in which the children with the Down Syndrome are at a risk of having a higher hearing impairment and this is seen all through the stages to the point in which the children will never be able to even talk to their friends, (Halliwell & Gutteridge 2015).

Other people could wonder how this Down Syndrome could affect the people from one generation to another, the answer is, the condition is never acquired from any other personnel, (Gupta, Radhakrishnan, Mahapatra & Saxena 2015). A chromosome name the Trisomy 21 takes into the point of alluding the possession of the chromosome 21 in a duplicate manner meaning there will be a total number of three duplicates of the same chromosome in each and every body cell. Due to this abnormality, there will be a variation in the way each of the chromosome to occurs and through this, there will be a resultant regeneration and development of the body cells. The occurrence of this disorder is generally from the conception in the egg’s cell or at times sperm cell but the probability of occurring in the egg’s cells tend to be higher compared to the sperm cell. During the phase in which the condition occurs in the egg cells, the resultant is the nondisjunction where through cell division, there occurs a division making this cell to have an odd number of the said chromosomes. Through the arbitrary events of the division of the cells, each of the phases is brought out in an advancing hatchling resulting to each of the cell having a team of the chromosome 21 in a duplicate form.

From the mellow to the more advance direct ranges of the disorder comes along with its seriousness where only the hindrance that is presently reliable in the young children, this resulting state comes along with only a single percent in mental impediment and the psychological make-up of the being, (Frazier, Gabriel, Merians & Lust 2018). Many other people are described as the charming, tend to be friendly and the individual upbeat even though these impedances do exist. Long back in the year 1883, the living time was only to a maximum of 25 years while today, we have up to a lifespan of 60 in the current living standard. With respect to their responsive tongue, kids resolved to have Down Syndrome routinely have vernacular gratefulness that is about the proportionate as their mental age. Note, this is often not the equivalent as their successive age. If all else fails, they are bowed for vernacular recognition is more essential than their tendency for expressive lingo, especially talk. Note that these youths frequently show comparatively awesome headway of vernacular in their most punctual stages and infant composes.

An examination was done in the year 1998 by Hassman and his team aimed at assessing all the hearing features and their incidences with the number of the individuals having the Down Syndrome via the assess of audiology and the examinations basing their conclusion in the otorhinolaryngological, (Arumugam  et al 2016). To be precise, over 56 percent of the overall population were tested positive which led to the end saying that the individuals had cut down the bending transmission of the otoacoustic so as to cut down all the amplitudes of the adolescents who were involved and resolved to have the Down Syndrome.

An examination by Kattan and the team were able to tell that half of the 26 adolescents they attempted had a conductive hearing disaster, other four percent were found with the hearing setback of sensoirneural, other four percent also demonstrated hearing adversity in terms of the sensorineural, while the remaining percentage were reported to have normal hearing. Regardless of the way that a little report, it reinforces the general accord that youths with Down Syndrome have a high event of the consistent conductive hearing setback, (Osman 2017). This must be commandingly broken down and administered in light of the fact that this conference mishap may wind up being one of the essential issues that may cause the talked correspondence limits of Down turmoil children to rate in a general sense lower than their genuine mental limits.

The conductive adversity much of the time found in individuals with Down Syndrome can result from a couple of otologic pathologies, for instance, stenotic ear conduits, otitis media, stick ear, cerumen impaction, and cholesteatoma. Stenotic ear channels suggest an outside ear conduit, the trench that interfaces the external ear to the middle ear, that has ended up being unusually tight. If the ear channel is adequately confined it may cause a gathering mishap. The stenotic ear conduits can show a couple sensible issues, the channels may end up being successfully halted up, and it may be difficult to precisely break down focus ear infection in stenotic ear trenches.

Another stress is the veritable craniofacial and orofacial life structures of Down turmoil kids which may in like manner incite unending ear issues, (Coffey, Tolley, Howard, Hickson 2018). Certain anatomical qualities may prevent the air dissemination of the inside that in the most case has an incitement effect to the inner ear resulting in otitis media. From the conduits of the outside ear to the tympanic film and towards the sound meatus in the external view, there is a self-cleaning process and the movement of the cerumen through this track. For the youths who have been affected by the Down Syndrome, this track is normally made narrow in that it does not allow smooth movement of the ear wax resulting in much more problems.

The cerumen may accumulate to much more levels that will now become a problem making the wax to accumulate in the external surrounding of the meatus. As a result of this, the middle ear space becomes another factor to be considered where the nasopharynx and the tube leading, for instance, the Eustachian may get broken making much more otitis media bringing more discharge making the earing process a much more problematic to the individual, (Patel, Balagopalan, Aruljothi & Alphonse 2016). The condition of the Eustachian tube for the individual having the Down Syndrome becomes unresolvable. With everything considered, the tube may be littler and more level than run of the mill and the nasopharynx may be close to nothing. Moreover, kids may have the hypotonia resulting from the suffering of the Down Syndrome which is generally referred to as the low muscle which poses a lot of challenges when it comes to the opening and the closing of the tube

An ongoing report by Bacciu, Pasanisi, Vincent, et al., had the main intention of directing the recording of the treatment of every watchful and the cholesteatoma that was concerned with the Down Syndrome, (Pontillo, Barbara, De Robertis, & Quaranta 2018). This examination exemplified a part of the procedures used to respect cholesteatoma and the challenges normal in the treatment of this otologic pathology for the individuals with the Down Syndrome. The study involved 9 patients who were pediatrically treated though deliberately. From this, they were able to record that 2 of the total patients were totally not able to ear as a result of the cholesteatoma which was found from both of the ears.

Measure of the Outcomes	The intervention	The Comparison
Size of the sample	Mean Score	Deviation Standard	The Sample Size	Means Score	Standard deviation
Reading of a single word	44	4.76	11.38	30	5.72	13.34
Letter-Sound knowledge	45	14.32	9.18	28	12.2	9.22
Blending of the Phoneme	44	8.02	2.21	25	4.60	2.49
Reading of Nonword	45	0.47	1.05	20	0.87	1.52
Expressive vocabulary	44	6.01	2.89	28	5.8	4.00
Receptive vocabulary	54	11.87	7.5	29	11.87	3.49
Expensive grammar	48	4.8	4.7	23	3.7	5.61
Expressive information	51	12.78	6.3	27	10.97	5.7

Having the condition, the ears could encounter a divider channel upwards to the mastoidectomy whose main role is to insinuate the clearing of all the polluted portions of the mastoid bones. For the ossicles to be more perfect and tenser gauges, there wan need to adjust the Bondy framework of one of the ears which brought about a difference including the mastoidectomy in the exterior gap of the mastoid. It was later on concluded that a single ear among the individuals who were examined only accomplished the process while the other had cholesteatoma through the divider in the up game of the mastoidectomy. On the other hand, having compared the whole process, the procedures involved were really tiresome since it required conduit divider so as to lower down the levels of mastoidectomy, (Kim,  Kwon, Jun & Kim 2017).

Down Syndrome is the most more often than not happening chromosomal condition, and examination into upgrading the individual fulfillment for people with Down turmoil is, clearly, astoundingly basic. It may be anything other than hard to have a poor opinion of the impact that a gathering setback may have on a man’s close to home fulfillment, especially in youths when even a smooth incident can be destroying to their talk and vernacular change, anyway hearing is a fundamental mastery for correspondence which is a basic bit of a respectable individual fulfillment. Along these lines, in order to give to the individual a justified fulfillment, then there is a need to treat the otologic pathologies as the best way to deal with the ontologies of the hearing problems.

Conclusion

Having leaned the Down Syndrome causes and its effects to the general public, a conclusion is hereby that the most common cause of the condition is the cell division of the trisomy 21 chromosome that duplicates itself int three within the human body cells. Even though there are some other causes like the inheritance of the single translocation from one chromosome to another within the same region, we cannot surely depend on this type of information. Once we get to understand, the parents preparing for the childbirth should be well informed so as to take all the procedures that involve the prenatal diagnosis of the child if by chance they develop the Down Syndrome. Many symptoms have been discussed about the condition including the defects to the heart and the vision congenital just to mention but a few.

References

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