The given case study revolves around a patient suffering from Down syndrome. Additionally, there are pieces of evidence that could be used to diagnose a blunt abdominal trauma. The fact is that the given injury could be severe, especially for individuals suffering from other problems with the brain and mental health. Besides, Dua et al. (2012) state that in case the given trauma is discovered, it is crucial to create a treatment plan that guarantees less complicated and severe consequences. For this reason, the first examination is critical as it ensures that an appropriate and timely treatment plan will be created. The article also outlines the unique importance of the National Trauma Bank as it helps to identify similar cases and apply the data to this same case.
Delving into the case, we could also admit the fact that the usage of the given examination procedure helped to determine the signs of Systemic inflammatory response syndrome, which could be extremely dangerous for the patient. Hamaguchi et al. (2013) are sure that individuals suffering from this very disease should be related to a particular risk group as it deteriorates the quality of their lives significantly and results in the appearance of numerous complications. They admit the fact that in case these patients are hospitalized in the intensive care unit, the outcomes could be more positive. For this reason, an immediate response is needed to assist a patient in his recovery.
Furthermore, the patient also suffers from Down syndrome, which should be taken into account when creating a treatment plan. The article by Kira, Fawzi, and Fawzi (2013) provides several vital assumptions related to the issue. The fact is that patients suffering from the given syndrome have specific problems that appear during the traumatic process. The peculiarities of their brain functioning are affected by traumas in a way different from the traditional one. In this regard, the data obtained due to the examination should be processed to identify the trauma and the impact it might have on Down syndrome and the patients life.
At the same time, Wark, Hussain, and Parmenter (2014), in their article, admit the fact that traumas might trigger the further development of dementia and the deterioration of patients health. In case a child is injured, the problem could become even more complicated as his/her further evolution will be impacted by this same trauma. That is why it is essential to examine a child and assess the main parameters. In case some areas in the brain are damaged, the early onset of dementia could be observed. Wark et al. (2014) state that the negative impact of traumas on patients with Down syndrome could be even more complicated in case the first signs of depression or other disorders are disregarded.
Finally, Narang and Clarke (2014) are sure that abusive traumas are likely to have an even more severe impact on patients because of the complex character of damage. An individual suffers both from physical and mental abuse. In patients with mental disorders, it could trigger the development of complications and outbreaks of dementia. Applying the given information to the case, the unique importance of efficient assessment becomes obvious. The usage of the given tool could help to determine the first signs of complications and the character of the abusive trauma.
References
Dua, A., Desai, S., Kuy, S., Patel, B., Dua, A., Desai, P.,… Shortell, C. (2012). Predicting outcomes using the National Trauma Data Bank. Perspectives in Vascular Surgery and Endovascular Therapy, 24(3), 123-127. Web.
Hamaguchi, S., Hirose, T., Akeda, Y., Matsumoto, N., Osawa, T., Seki, M.,… Tomono, K. (2013). Identification of neutrophil extracellular traps in the blood of patients with systemic inflammatory response syndrome. Journal of International Medical Research, 41(1), 162-168. Web.
Kira, I., Fawzi, M., & Fawzi, M. (2013). The dynamics of cumulative trauma and trauma types in adult patients with psychiatric disorders. Traumatology, 19(3), 179-195. Web.
Narang, S., & Clarke, J. (2014). Abusive head trauma. Journal of Child Neurology, 29(12), 1747-1756. Web.
Wark, S., Hussain, R., & Parmenter, T. (2014). Down syndrome and dementia. Journal of Intellectual Disabilities, 18(4), 305-314. Web.
Also known as Down’s syndrome, Down syndrome is a set of genetic disorders that result from the inheritance of an extra chromosome, thereby making one cell to have 47 chromosomes instead of the usual 46. This extra copy of chromosome affects the development of the body and brain of the children born with this condition. Mental development of children born with this condition is usually slower than those born without it (Centre for Disease Control and Prevention, 2010).
There are three types of Down syndrome: Regular trisomy 21, Translocation and Mosaic.
Regular trisomy 21 is the most common and is characterized by an extra chromosome 21 on all the cells while translocation accounts for almost 5 percent of all cases. It is characterized by the attachment of the extra chromosome 21 to another chromosome, this type is not as common as Regular trisomy 21.
Mosaic accounts for about 2 percent of all cases and in this type of Down syndrome, only a few cells have an extra chromosome 21 (Macnair, T. & Hicks, R. 2010).
Symptoms
People suffering from Down syndrome have a different facial profile; the face is typically flat with eyes tilted upwards. Symptoms may also include smaller ears and mouth making the tongue to protrude. Those affected with this disorder tend to have a smaller body size and are also shorter in stature with low muscle tone and a short neck.
Other problems include heart defects and gut problems. Nearly half of those suffering from Down syndrome are usually affected by heart defects although not all cases can be treated. Gut problems bring about difficulty in eating and may lead to other health problems such as constipation.
Low immunity is another health problem that results from this condition, this leaves the person at high risk of contracting infections. The disorder can also affect the hearing and sight senses. As Down syndrome causes mental impairment, learning ability of affected persons is affected (Macnair, T. & Hicks, R. 2010).
Prevention and Treatment
There is no known prevention or treatment method of this disorder but the health problems accompanying it can be treated through a variety of ways. Speech or occupational therapy and exercises improve on the physical and mental activity of the persons. According to research findings, the existence of some specific genes in women can interfere with the state of vitamin B9 (folic acid) metabolization. Moreover such women stand a high chance of having a baby with Down syndrome. Prevention steps by pregnant mothers include taking multivitamin daily with vitamin B9 and avoiding smoking or taking of alcohol. Down syndrome is a genetic disorder and the probability of having a child with this condition increases if any member of the family is born with the disorder. Antenatal screening can also be used to identify those women who are at a higher risk of having babies with the defect. Those found to be at a higher risk can then have their babies tested for Down syndrome. Giving birth to a baby with Down syndrome can occur especially as the mother grows older.
Aim
The aim of the paper is to demonstrate my understanding of Down syndrome and explain how it impacts on those who have it in their daily lives. The role of my discipline in the management of this disorder is also discussed in the paper.
Discussion
My choice of Down syndrome was based on and the myths and stigma attached to it and the neglect that these people suffer. Most people believe that people with the disorder have a short life span while this is no the case, life expectancy for these individuals is 60 years. Some people also believe that children suffering from this condition should be placed in special institutions for learning. It is useful to know that these children have been included into the normal institutions and are using the same curriculum that other children are using. There have also been instances where an employer denies an individual an opportunity due to this condition.
Impact on Daily Activities
Individuals with Down syndrome have a life expectancy of about 60 years; this is due to extensive research that has now made it possible to lessen its effects. Health and social problems associated with this disease are discussed below. Heart Defects: almost 50 percent of people suffering from Down syndrome have heart conditions (March of Dimes, 2010), some cases are mild but some require surgical procedures. An individual suffering from this disorder should have regular check-ups by medical personnel in order to arrest heart problems at an early stage. Vision and sight problems: the disorder may affect the eye leading to conditions such as cataracts, far-sightedness or near-sightedness. Vision problems affect more than 60 percent of babies with the disorder. This can be corrected by surgery, use of contact lenses or glasses. Partial or full hearing loss may be as a result of defects in the middle or inner ear. Infections: babies suffering from this disorder have low immunity and thus at a high risk of contracting colds, pneumonia and smallpox.
Preventive and curative precautions must be taken to ensure that these infections are not contracted by the individual. An example is feeding the persons on diet meals that improve the immunity system.
Thyroid disorders are usually caused by the absence of a thyroid hormone hence it may interfere intellectual development. Diagnosis of this condition is done through screening and treatment is by taking doses of thyroid hormone. Tests for this condition should be carried out annually for babies with Down syndrome since they are at a high risk of contracting this disease. Leukemia: this is cancer of the blood and affects less than one percent of babies infected with Down syndrome. This disease results to an abnormally high number of white blood cells, studies have shown that persons with Downs syndrome have an 18 percent of developing leukemia and this normally occurs before the baby is 3 years old (Chen, H., 2010). Leukemia can be treated through chemotherapy.
Intellectual disability: this is perhaps one of the greatest hurdles that people with Down syndrome have to face. Most of the people with the disorder have less than average IQ levels though some are only mildly affected and can live independently (Mothers 35, 2010). This also affects locomotive skills such as sitting and walking and also affects cognitive skills like speech and communication skills. These children are also at a higher risk of developing Alzheimer’s disease at later stages of their lives; this disease leads to memory loss. Locomotion skills can be improved through physiotherapy while cognitive skills can be improved through speech therapy by trained personnel. These children, however, have different capabilities and interests just as the normal children and should not be discriminated upon based on their condition.
A range of support systems are now available for children with Down syndrome.
Fertility: persons suffering from Down syndrome have reduced fertility. Infertility is common in males while pregnancy for women is possible though this probability reduces with increase in age. A woman with this condition has a 50 percent chance of getting a child.
Support
People suffering from Down syndrome should be accorded the necessary support by their immediate families and the community at large. These include academic and health institutions. As a healthcare specialist, it is my duty to make sure that an individual suffering from Down syndrome accesses all the facilities that he may require. This would require that I make regular visits to the persons to check on their health and recommend treatment for cases that require medical attention. Check-ups to be done during such visits include hearing and vision, infections such as colds or pneumonia and thyroid tests. Speech therapy must also be included in such visits for this improves the ability o the children to communicate with others.
When the individual is an adult, tests for leukemia and Alzheimer’s disease will be occasionally carried out at the medical facility. Physiotherapy will also be undertaken in order to strengthen the child’s muscles. The immediate family of the individual will also be trained on the care that these persons should be given. Since these individuals require special diets and academic needs, the services of trained dieticians and therapists will be enlisted. Schools for children with special needs are located around the country and medical personnel will regularly visit such institutions to check whether the set requirements have been met. Individuals with mild cases of the disorder can be allowed to take the regular curriculum with other students not affected with the disorder.
Role Played by Healthcare Professionals in the Management of Down Syndrome
The importance of healthcare professionals in the management of chronic diseases cannot be over-emphasized. These personnel play an important role in the advancement of the health of those affected with a disease or disorder.
The professionals are in the forefront in training and educating the public on the care for patients under the home based care program. They are part of the medical response systems and are prepared for any health emergency at local, regional or national levels.
The health care personnel are also at the front line in increasing health literacy among the citizens of a country. This is essential because it eradicates secondary prevention. It has been noted that lack of good communication between the patient and healthcare personnel has contributed greatly to medical errors as a result of wrong diagnosis which translates to wrong prescription. Lack of health literacy has even led to some patients giving false information to the health care personnel due to shame. Health literacy is also important in informing the public on preventive measures of certain medical conditions and infections. Health issues such as obesity and lung cancer can be prevented through health literacy as the public will be able to know how to prevent these illnesses. The healthcare personnel are better placed to offer training to community health workers. These workers are in close contact with the members of a community and can promote health ideas among the locals.
The Chronic Care Model
A chronic condition refers to a medical condition that is persistent or long-lasting, it may also refer to a medical condition that keeps recurring. This model is used by medical practitioners in the management of chronic diseases including Down syndrome. It incorporates the community and the health system in the management of these conditions.
The model is applied in order to achieve better outcomes and it focuses on educating the patients through health care professionals so that they can accept their condition. A comprehensive medical care requires that patients visit medical personnel for long hours and this can lead to poor services due to limited staff.
This model therefore gives a summary of the elements for improving care for patients with chronic diseases; these are the health systems in collaboration with the community (Chronic Disease Management, 2007). This model has resulted to a rise in the life expectancy of individuals with Down syndrome to 60 years.
Conclusion
We should not discriminate against Individuals suffering from Down syndrome; be it in the house setting, educational institution, and social places or at the workplace. Having a baby with Down syndrome in the family requires that every member adjusts to assist him/her in the daily activities. Children may feel that their parents are paying more attention to this child than them; this can be solved by informing them about the condition. This helps to dispel any myths held about the disorder. Local authorities can also take it upon themselves to educate the public about this disease and on the need to avoid discriminating against those affected. Children suffering from milder cases of Down syndrome should be allowed to attend normal schools and partake in the daily activities at the school.
Reference List
Centre for Disease Control and Prevention (2010). Birth Defects: Down syndrome. Web.
Chen, H. (2010). Emedicine: Down syndrome. Web.
Chronic Disease Management ( 2007). British Columbia’s Expanded Chronic Care Model. Web.
Macnair, T. & Hicks, R. (2010). Physical Health: Down’s syndrome. Web.
The Down’s syndrome is the problem that may occur in a number of reasons. The main purpose of the research is to identify the authors who considered the problem of Down’s syndrome causes and analyze the results of the research conducted by those scholars. The main result of the current research is that it was enumerated a number of reasons which may be the causes for the Down’s syndrome appearance. The Down’s syndrome is mostly caused by an error during cell division process that is resulted in an extra genetic material. This extra genetic material creates 47 chromosomes in human organism instead of 46, a norm. The most frequently occurred consequences of those changes are lack of cognitive, physical and speech development. It was also possible to identify the types of Down’s syndrome, namely, mosaic, trisomy 21, and translocation.
Introduction
Down’s syndrome is a disorder which is caused by the addition of an extra genetic material that is associated to causing delays in the development of a child in this condition. Down’s syndrome was named after a British physician, John Langdon Down; he is the one who described the symptoms first in 1886. He published an essay illustrating different young children who suffered from mental retardation. While working in an asylum in England, Down found a distinction between children who are cretins and those he called Mongolods. Mongoloidism, a term he used because these children had similar characteristics as those of people from Mongolia who had arrested development. An extensive amount of research was conducted after Down’s findings. Though out this paper, different studies will be discussed to help us understand what causes a person to be born with Down’s syndrome; the paper will also analyze the relationship between maternal serum level of human placental growth hormone (HPGH) and fetal Down syndrome.
General Information on Down’s syndrome
Down’s syndrome has an occurrence rate of one out of 600 live births (5,500 lives annually) in nearly all races and across the economic classes1 . The occupational categories, still, influence people’s ability to give birth to a live-child with Down’s syndrom2 . It is proved that the chances to give birth to a baby with Down’s syndrome increase with the increase of mother’s age. Thus, 35-year-old woman has 1:385 chances to give birth to a baby with Down’s syndrome, while the risk of 40-year-old woman is 1:303 . There are a great number of different tests which are able to identify the Down’s syndrome on different terms of pregnancy. It was considered with the help of Serum, Urine and Ultrasound Screening Study (SURUSS), the First and Second Trimester Evaluation of Risks (FASTER) Trial and the Serum Biochemistry and Fetal Nuchal Translucency Screening (BUN) that the first trimester serum screening is the safest and allows identify the problem on the earliest terms4 . Three forms of Down’s syndrome are known to exist and they include translocation, trisomy 21, and mosaic. In trisomy 21, every cell in the body has the extra chromosome 215. Tristomy 21 has 97% of the population suffering from the disease. Translocation type of Down’s syndrome is the much more rarely met, it is a chromosomal abnormality that comes across in 4% of all cases of the disease. The mosaicism is the rarest and covers only 1% of the cases6 .
The problem of non-disjunction
It is impossible to dwell upon Down’s syndrome and its reasons without turning to the problem of non-disjunction. The main literally meaning of non-disjunction is “not coming apart”. It is the process when chromosome pairs fail to separate properly during cell division. To understand the Down’s syndrome occurrence is impossible without the understanding of the reasons for non-disjunction. There is a hypothesis that the main reason for non-disjunction is a cascading event, which is the subsequence of “hormonal imbalance, sub-optimal micro-vasculature around the ovarian follicle, reduced blood flow, increased carbon dioxide and lactic acid inside the follicle, decreased pH in the oocyte, reduced mitotic spindle size, spindle displacement and non-disjunction”7 . A number of the research was conducted on the problem of reasons for non-disjunction that causes the Down‘s syndrome. The following conclusions were obtained, the non-disjunction may be the result of secondary non-disjunction (when one of the parents was trisomy 21), translocation, the presence of the specific gene of non-disjunction in human organism, or the environmental effect that should not be omitted8 .
Types of Down’s syndrome
Translocation
Pic. 1. Possible gametes from translocation
Having considered some reasons for non-disjunction that may result in Down’s syndrome, it is possible to shift to the problem of three types of the disease, translocation, trisomy 21, and mosaic, in detail. Turning to translocation (Pic.1), it is necessary to mention that those who suffer from problems caused by translocation have “2-way exchange of material between 2 nonhomologous chromosomes, with no net gain or loss of genetic material”9 . Translocation is not actually a change of the chromosomal material, but it is the change of the genetic material location. The commonly occurred case of the translocation is the exchange of the genetic material between “arms of two heterologous chromosomes”9 . Being one of the most commonly met balanced structural chromosomal abnormality, translocation occurs in 1 one per 1175 cases. To the point, the unbalanced structural chromosomal abnormality in humans occurs in about 0.04% cases but it is an extremely significant factor in morbidity and mortality cases9 .
Trisomy 21
Pic. 2. Genetic map with three copies of chromosome 21
As it was mentioned above, trisomy 21 (Pic. 2) is one of the reasons for the Down’s syndrome occurrence. Being one of the most frequently befallen, trisomy 21 takes place in 1 of 700 cases without the relation to any specific ethnic group. Trisomy 21 is caused by the meiotic errors that occur in egg and involve an extra maternal chromosome in 90% of cases of Down’s syndrome presence. Still, trisomy 21 is the cause of a number of other problems which attend the Down’s syndrome, such as “congenital heart disease, duodenal.
A person suffers from Down stenosis or atresia, imperforate anus, syndrome. Hirschprung disease, muscle hypotonia, immune system deficiencies, increased risk of childhood leukemia and early onset Alzheimer’s disease”10 . Some research was conducted on the main effects of trisomy 21. It is an undeniable truth that gene changes in human organism are extremely harmful and negatively affect people’s mental and physical health. Thus, there are some facts that may not be omitted. The genetic changes that occur in human organism due to trisomy 21 affect the cancer development and prevent it. The research was conducted for about 50 years proved that the gene dosage of the trisomy 21 protectively affects cancer cells and especially Ets2 gene dosage that is responsible for the tumorigenesis11 .
Mosaic
Pic. 3. Mosaic Down’s syndrome
Mosaicism is one of the rarest types of Down’s syndrome. As it was stated above it covers 1% of disease cases in the world. Mosaicism is characterized by the possession of trisomy 21 but with specific characteristics when there may occur both normal and trisomic cell lines. Some sources report that “mosaicism is caused by the loss of the extra chromosome of a trisomic zygote in 80% of all cases and that the remaining 20% probably result from mitotic non-disjunction of an euploid zygote”12 . The main peculiarity of the mosaic Down’s syndrome is that people possessing it on the genetic level may either have the intellectual disabilities of omit them. It was proved via the research that people with mosaic Down’s syndrome may have strong signs on the intellectual level, the other patients may get just some of the signs and the last group may omit any characteristics of the disease and show absolutely normal IQ level12 . The more detailed results on the comparative analysis of children with trisomy 21 and mosaic Down’s syndrome may be presented. Thus, children with trisomy 21 managed to get from 18 to 75 range of IQ level with the mean of 52, while those with mosaic modification of the disease were able to receive from 43 to 92 and the mean IQ is 67 13.
There are various signs and symptoms that are characteristic of a person suffering from Down syndrome. The asynchrony in the development of those with Down’s syndrome is notable. It is significant to remember that children with Down’s syndrome have communicational difficulties. They prefer to use gestures and signs while communication to speaking14 {/867b}. Furthermore, due to weak and slow development, children are unable to lead the normal communication with others. The problem is also supported with the differences in physical development. Those suffering from Down’s syndrome start walking later. It is the result of the delays in motor development, “as well as the development of abnormal compensatory movement patterns related to abnormal foot, knee, hip and ankle kinetics”15 .
The difficulties in communication and differences in physical abilities create a number of complications while the collaboration between children with Down’s syndrome and their unaffected siblings. The prejudiced attitude of the society to people with Down’s symptom leads to their labeling as stigmatized identity. The situation is also worsen by the fact that those who suffer form the disease consider themselves retarded and different, their self-esteem is rather low and results in negative personal evaluation. The negative attitude of people with Down’s syndrome to their personality leads to isolation, and, as a result, to the social unawareness16 . The society, knowing not much about people with Down’s syndrome, tries to avoid them and this leads to some hostility. It is also notable to mention another effect, when people with Downs’ syndrome aggressively react to the society. People who suffer from the disease were interviewed and followed and the reaction on some situations was considered. IT may be concluded that the research showed that the aggressive reaction of people with Down’s syndrome was three times lower that that of people with learning disabilities, still it was. It is also crucial to mention that neither epilepsy no autism were the reasons for this aggression17 . The research of disease suffering people’s aggression should be continued as the mentioned study did not give specific answers; it just excluded two reasons for aggression of people with Down’s syndrome and put the problem higher than it was. In the relation to the behavior of people with Down’s syndrome, the research shows that the people with the disease are flexible in their behavior18 .
The relationship between maternal serum level of human placental growth hormone and fetal Down’s syndrome
It must be noted that the growth hormone (GH) is produces by human placenta. Before turning to the detailed research in the question, it is significant to understand the role of the human placental growth hormone (hPGH) in the extravillous cytotrophoblast (EVCT) invasiveness. This role is significant as according to the cellular model, hPGH is effective and influence the increase of EVCT invasive potential19 . Returning to the question of the significance of the placental GH on the fetal growth, it is important to know that different kinds of research prove the influence of placental GH on the fetal growth. Such conclusion was possible with the understanding that placental GH is interrelated with fetal growth. At the same time, there were no direct signs of IGF-I influence in fetal growth. Some logical conclusions may create a hypothesis that IGF-I influenced fetal growth indirectly, via placental size and function affection20 .
The suggestion was made that maternal serum level of hPGH may play a significant role in identifying the problems that deal with the chromosomal anomalies while pregnancies. The maternal serum level of hPGH may be a kind of marker that could help identify the signs of Down’s syndrome while screening21 . Frendo J.L, Vidaud M, Guibourdenche J, et al. made an attempt to explain why the maternal serum level of hPGH is a potential marker for chromosomal anomalies identification. They are sure that the Down’s syndrome is identified by means of a number of signs which are connected directly to the placenta development that is resulted in the hormones’ influence. First, the syncytiotrophoblast is the core layer in the placenta that is responsible for a number of processes while pregnancy. This syncytiotrophoblast layer is the surface one and is seen best of all. The significance of this layer is that it is formatted with abnormities in case of Down’s syndrome occurrence. Furthermore, the decrease “in the production of pregnancy-specific polypeptide hormones hPGH as well] by the placenta in Down’s syndrome” is observed22 . All the facts mentioned above prove that the relation between maternal serum level of human placental growth hormone and fetal Down’s syndrome is on the high level.
Maternal serum screening for Down’s syndrome
There are several types of screening which may be helpful while identifying the Down’s syndrome sighs while pregnancy. Fetal nuchal translucency method is one of the most effective one in the chromosomal abnormalities identification while screening. The increased thickness in fetal nuchal translucency is the sign for the Down’s syndrome occurrence. Still, the gestational age should be taken into account as its ignoring may result in false positive rates. Furthermore, the use of the mixture of methods may be a good opportunity to know for sure either the presence or the absence of the Down’s syndrome is observed in pregnancy23 .
The Down’s syndrome identification on the early terms of the pregnancy is important. There is an opinion that the early identification of the Down’s syndrome is unreliable and that the second trimester should be waited. Thus, this opinion is false. The research conducted among 4412 women showed the following (Pic. 3)
Pic. 4. Medium serum concentration of markers
The table allows consider the concentration of different markers in women organism while pregnancy on the first and second trimesters. Some of the rates are higher, the others are lower24 . The level of serum concentration in women organism allows us to conclude that there is no need to wait till the second trimester and the identification of the Down’s syndrome may be provided on the first one. Palomaki et al. is still sure that the conclusion about either the presence or the absence of the Down’s syndrome should be provided on the second trimester by means of combining the of the first and second trimesters as the use of the markers combination may help state precise results25 . Still, Mennuti and Driscoll still believe that the Down’s syndrome screening should be provided in the second-trimester on the general basis, while this does not exclude women’s desire to be screened on the first trimester of pregnancy26 . There is an idea to use the combination of the Downs’ syndrome, identification, the maternal serum test in the combination with ultrasonography27 . The combination of sonographic examination and maternal serum testing maximizes the benefits of Down’s syndrome identification, if it is present, no matter which succession is chosen28 .
It is significant to underline that women who were received positive Down’s syndrome results while the first screening are less likely to come thorough the other screening while the second pregnancy. Even the fact that the risk of Down’s syndrome possession is higher in those who were screen-positive for the first time, do not influence their decision to avoid screening while the second pregnancy29 . When the women have the negative rhesus blood group, the tests should be conducted twice and the combinations and analysis of the achieved results may be the final conclusion of whether the foetus is affected with Down’s syndrome or not30 .
The importance of screening on both, the first and the second trimesters is significant. Some medics stress that the screening on the first trimester helps not just in trisomy 21 identification, but also in checking the number fetal malformations31 . Driscoll and Gross ruin the prejudice that maternal age may be a good screening criterion stressing that the vast majority of children with Down’s syndrome appears in women who no older than 3532 . Furthermore, the very system of the Down’s syndrome screening was invented in late 1980s – early 1990s. The change in the software capacities and other life qualities should be taken into account and the change of the monitoring parameters should be provided to reduce the screen-positive errors rates33 .
Crang-Svalenius, Dykes, and Jörgensen are sure that the fetal neuchal translucency should be conducted on the first trimester while the serum screening is more promising on the second trimester term34 . The screening in the middle of the pregnancy term should be conducted with the help of different maternal serum biochemical markers “maternal serum α-fetoprotein (MSAFP), human chorionic gonadotropin (hCG), unconjugated estriol, and, recently, dimeric inhibin A”35 .
Some scholars stress that the reason for the false positive screen for Down syndrome may be the high level of serum concentrations of hCG36 . Most medics identify the error rate of 5% for Down’s syndrome positive screen37 . It is significant that some women consider the role of the serum screening in a wrong way. Thus, some participants of the experiment consider it as the helping strategy “to protect the fetus instead of finding cases of untreatable birth defects”38 .
Discussion
The researches above have clearly indicated a common trend in showing the relationship between maternal serum levels of hPGH and foetal Down’s syndrome39 . The levels of hPGH at Down’s syndrome pregnancies have been shown to change in the second trimester of the gestation period40 . The three main types of the Down’s syndrome were identified, trisomy 21, translocation and mosaic. Though, the type of the Down’s syndrome does not influence the choice of the type of identification of the problem. It is also understood that the first trimester of pregnancy is the best time to start the Down’s syndrome risk assessment with the help of the combination of fetal neuchal translucency thickness and maternal age41 . Fetal neuchal translucency is considered to be one of the most reliable tests on the Down’s syndrome possession42 . It is crucial to know that Down’s syndrome problem is one of the main prototypes for research of people’s aneuploidy43 . The translocation and mosaic syndromes are the types of trisomy which either replaces the chromosomes or changes their look. The change of the location of the trisomy 21 significantly influences the disease, but it still remains Down’s syndrome44 . The relationship between maternal serum level of hPGH and fetal Down’s syndrome is significant as the hPGH influences the placenta which, in its turn, creates some abnormalities which are easily shown on the screening and in case of Down’s syndrome may be easily considered.
Conclusion
There are some health conditions which have no cure and only require specialized care in order to reduce the patient’s suffering. They have been stigmatized in our societies therefore leaving the patients being locked at homes or caring centers. Thus, hospitalization may occur because of health problem reasons45 . Down’s syndrome which is also referred to as trisomy 21 is one of these conditions affecting our societies. Down’s syndrome occurs in 5,500 cases each year in nearly all races and across the economic classes46 . The condition is known to occur when there is an error during cell division process, this error is referred to as disjunction. Normally, it occurs as a result of a fault in cell division called non-disjunction47 . As a result an extra genetic material is added either to the ovum or the sperm. During conception, the embryo acquires extra genetic material to have 47 chromosomes instead of the normal 46. It is this extra genetic material that causes lack of cognitive development, physical development and speech development. There are three common types of Down’s syndrome. These include mosaic, trisomy 21, and translocation. Much research has been carried out to find the relationship between maternal serum levels of hPGH and Down’s syndrome. The results are unanimous in that maternal serum levels of hPGH are increased in people with DS pregnancies. More research should be conducted in the future to provide the much needed knowledge of finding the cure for this syndrome. When this is done it will be a relief to parents and the children suffering from Down’s syndrome.
Bibliography
Improved national prevalence estimates for 18 selected major birth defects–United States, 1999-2001. MMWR. Morbidity And Mortality Weekly Report. 2006; 54(51): 1301-1305.
Khoshnood B, De Vigan C, Vodovar V, Bréart G, Goffinet F, Blondel B. Advances in Medical Technology and Creation of Disparities: The Case of Down Syndrome. American Journal of Public Health. 2006; 96(12): 2139-2144.
Pinto S, Schub T. Down Syndrome. [serial online]. 2010; Available from: CINAHL Plus with Full Text, Ipswich, MA.
Weisz B, Rodeck CH. An update on antenatal screening for Down’s syndrome and specific implications for assisted reproduction pregnancies. Human Reproduction Update. 2006; 12: 513-518.
Pangalos C et al. Understanding the Mechanisms of Mosaic Trisomy 21, By Using DNA Polymorphism Analysis. American Journal of Human Genetics. 1994; 54(9): 473-481.
Down syndrome. In: Strickland BB, ed. The Gale Encyclopedia of Psychology. Detroit: Gale; 2001: 193-194.
Cuckle HS. Primary prevention of Down’s syndrome. International Journal of Medical Sciences. 2005; 2(3): 93-99.
Read S. The distribution of Down’s syndrome. Journal of Mental Deficiency Research. 1982; 26 (Pt 4): 215-227.
Dundar M, Caglayan A, Saatci C, Arslan K, Ozkul Y. Down syndrome like appearance with a novel de novo translocation t(6;21)(q21;q13). Indian Journal of Medical Research. November 2008; 128(5):666-668.
Sommer C, Henrique-Silva F. Trisomy 21 and Down syndrome: a short review. Brazilian Journal Of Biology = Revista Brasleira De Biologia. May 2008; 68(2): 447-452.
Sussan T, Yang A, Li F, Ostrowski M, Reeves R. Trisomy represses ApcMin-mediated tumours in mouse models of Down’s syndrome. Nature. 2008; 451(7174): 73-75.
de A. Moreira L, San Juan A, Pereira P, de Souza C. A case of mosaic trisomy 21 with Down’s syndrome signs and normal intellectual development. Journal of Intellectual Disability Research. 2000; 44(1): 91.
Fishier K, Koch R, Donnell G. Comparison of Mental Development in Individuals With Mosaic and Trisomy 21 Down’s Syndrome. Pediatrics. 1976;58(5):744.
Toth A. Bridge of Signs: Can Sign Language Empower Non-Deaf Children to Triumph over Their Communication Disabilities?. American Annals of the Deaf. 2009; 154(2): 85-95.
Whtt-Glover M, O’Neill K, Stettler N. Physical activity patterns in children with and without Down syndrome. Pediatric Rehabilitation. April 2006; 9(2): 1.
Cunningham C, Glenn S. Self-awareness in Young Adults with Down Syndrome: I. Awareness of Down syndrome and disability. International Journal of Disability, Development & Education. 2004; 51(4): 335-361.
Tyrer F, McGrother C, Thorp C, et al. Physical aggression towards others in adults with learning disabilities: prevalence and associated factors. Journal of Intellectual Disability Research. 2006; 50(4): 295-304.
Didden R, Sigafoos J, Green V, et al. Behavioural flexibility in individuals with Angelman syndrome, Down syndrome, non-specific intellectual disability and Autism spectrum disorder. Journal of Intellectual Disability Research. 2008;52(6):503-509.
Lacroix MC, Guibourdenche J, Fournier T, et al. Stimulation of Human Trophoblast Invasion by Placental Growth Hormone. Endocrinology. 2005; 146: 2434–2444.
Chellakooty M, Vangsgaard K, Larsen T et al. A longitudinal Study of Intrauterine Growth and the Placental Growth Hormone (GH)-Insulin-Like Growth Factor I Axis in Maternal Circulation: Association Between Placental GH and Fetal Growth. Journal Clinical Endocrinology Metabolism. 2004; 89(6): 384-391.
Baviera G, Carbone C, Corrado F, Mastrantonio P. Placental growth hormone in Down’s syndrome screening. Journal of Maternal-Fetal & Neonatal Medicine. 2004; 16(4): 241-243.
Frendo JL, Vidaud M, Guibourdenche J, et al. Defect of Villous Cytotrophoblast Differentiation into Syncytiotrophoblast in Down’sSyndrome. Journal Clinical Endocrinology Metabolism. 2000; 85: 3700–3707.
Wright D, Kagan KO, Molina FS, Gazzoni A, Nicolaides KH. A Mixture Model of Nuchal Translucency Thickness in Screening for Chromosomal Defects. Ultrasound Obstetrics Gynecology. 2008; 31: 376–383.
Haddow J, Palomaki GE, Knight GJ. Josephine Williams, Wayne A. Miller, M.D., and Anthony Johnson, D.O. Screening of Maternal Serum for Fetal Down’s Syndrome in the First Trimester.
Palomaki GE, Neveux LM, Knight GJ, Haddow JE, Pandian R. Maternal Serum Invasive Trophoblast Antigen (Hyperglycosylated hCG) as a Screening Marker for Down Syndrome during the Second Trimester. Clin. Chem. 2004; 50: 1804-1808.
Mennuti MT, Driscoll DA. Screening for Down’s Syndrome — Too Many Choices?. NEJM. 2003; 349: 1471-1473.
Wald N, Jenkins TM, Wapner RJ, Reynolds T, Zimmermann R, Wright E, Malone FD, D’Alton ME, Berkowitz RL, Watt H, Hackshaw A, Copel JA, Bahado-Singh RO. Integrated Screening for Down’s Syndrome. NEJM.1999; 341(7): 461-467.
Pinette MG, Egan JFX, Wax JR, Blackstone J, Cartin A, Benn PA. Combined Sonographic and Biochemical Markers for Down Syndrome Screening. J Ultrasound Med. 2003; 22: 1185-1190.
Rausch D, Lambert-Messerlian G, Canick, J Participation in maternal serum screening for Down syndrome, neural tube defects, and trisomy 18 following screen-positive results in a previous pregnancy. West J Med. 2000; 173(3): 180–183.
Muhcu M, Mungen E, Dundar O, et al. Reliability of second trimester triple screening for Down syndrome in rhesus-negative women. Journal of Perinatology. 2007; 27(5): 268-271.
Kagan K, Wright D, Baker A, Sahota D, Nicolaides KH. Screening For Trisomy 21 by Maternal Age, Fetal Nuchal Translucency Thickness, Free Beta-Human Chorionic Gonadotropin, and Pregnancy Associated Plasma Protein-A. Ultrasound. Obstetric Gynaecology. 2008; 31: 618–624.
Driscoll DA, Gross S. Prenatal Screening for Aneuploidy. NEJM. 2009; 360: 2556-2562.
Reynolds T M, Aldis J. Median parameters for Down’s syndrome screening should be calculated using a moving time-window method. Ann Clin Biochem. 2008; 45: 567-570.
Crang-Svalenius E, Dykes A, Jörgensen C. Maternal serum screening for Down syndrome–opinions on acceptance from Swedish women. Scandinavian Journal Of Caring Sciences. 2003; 17(1):30-34.
Lehavi O, Aizenstein O, Evans M, Yaron Y. 2nd-trimester maternal serum human chorionic gonadotropin and alpha-fetoprotein levels in male and female fetuses with Down syndrome. Fetal Diagnosis And Therapy. 2005;20(3):235-238.
Abdul-Hamid S, Fox R, Martin I. Maternal serum screening for trisomy 21 in women with a false positive result in last pregnancy. Journal Of Obstetrics And Gynaecology: The Journal of the Institute of Obstetrics And Gynaecology. 2004; 24(4):374-376.
Soergel P, Pruggmayer M, Schwerdtfeger R, Muhlhaus K, Scharf A. Screening for trisomy 21 with maternal age, fetal nuchal translucency and maternal serum biochemistry at 11-14 weeks: a regional experience from Germany. Fetal Diagnosis And Therapy. 2006; 21(3):264-268.
Chiang H, Chao Y, Yuh Y. The maternal self in pregnant women undergoing maternal serum screening. Journal Of Clinical Nursing. 2007;16(6):1180-1185.
Papadopoulou E, Sifakis S, Giahnakis E, et al. Human Placental Growth Hormone Is Increased in Maternal Serum in Pregnancies Affected by Down Syndrome. Fetal Diagnosis & Therapy. 2008;23(3):211-216.
Baviera G, Carbone C, Corrado F, Mastrantonio P. Placental growth hormone in Down’s syndrome screening. Journal of Maternal-Fetal & Neonatal Medicine. 2004; 16(4): 241-243.
Snijders RJ, Noble P, Sebire N, Souka A, Nicolaides KH. UK Multicentre Project on Assessment of Risk of Trisomy 21 by Maternal Age and Fetal Nuchal-Translucency Thickness at 10-14 Weeks of Gestation. Fetal Medicine Foundation First Trimester Screening Group. Lancet. 1998; 352: 343–346.
Chang, TC. Antenatal screening for Down syndrome in New Zealand: Time for a national screening policy?. Australian & New Zealand Journal of Obstetrics & Gynaecology. 2006; 46(2):92-96.
Korenberg J, et al. Down Syndrome Phenotypes: The Consequences of Chromosomal Imbalance. Proctor National Academy Science. USA. 1994; 91: 4997-5001.
Shapiro, B. Whither Down Syndrome Critical Regions? Human Genetics. 1997; 99: 421-423.
So S, Urbano R, Hodapp R. Hospitalizations of infants and young children with Down syndrome: evidence from inpatient person-records from a statewide administrative database. Journal of Intellectual Disability Research. 2008; 52(6): 503-509.
Improved national prevalence estimates for 18 selected major birth defects-United States, 1999-2001. MMWR. Morbidity And Mortality Weekly Report. 2006; 54(51): 1301-1305.
Ghosh D, Sinha S, Chatterjee A, Nandagopal K. A study of GluK1 kainate receptor polymorphisms in Down syndrome reveals allelic non-disjunction at 1173(C/T). Disease Markers. 2009; 27(2): 45-54.
Down syndrome or trisomy 21 is an inherent condition that may lead to the occurrence of diverse barriers throughout life. It is a genetic disorder that is closely linked with chromosome 21 and may cause mild intellectual and learning disabilities and physical issues. Even though the disorder may affect both the physical and mental health of the patient, people may lead gull lives despite having trisomy 21. However, conditions may vary significantly depending on the circumstances of each individual case. Therefore, it may be crucial to provide an individual approach to the assessment of every patient to provide holistic care. Moreover, the conditions of patients with trisomy 21 may be complicated by a number of associated disorders and health problems. According to some sources, associated disorders may include diabetes, depression, cardiovascular problems, hearing difficulties, and dementia. In addition, patients with Down syndrome may demonstrate unpredictable behavioral patterns. Hence, it may be vital to develop an individual care plan for each patient.
To develop a comprehensive care plan and set adequate and achievable goals, it may be essential to conduct a thorough assessment of the patient’s conditions. As already mentioned, these conditions may vary considerably from one case to another. Furthermore, many diverse mental and physical disorders may be related to trisomy 21. Therefore, unified assessment criteria were developed in order to not only provide a holistic approach to assessment but also conduct it with high efficiency and in a limited amount of time. Such frameworks are broadly implemented in practice as they may significantly contribute to the development of adequate care plans and their timely implementation.
Assessment
Assessment frameworks may differ slightly depending on the priorities of a concrete patient or general principles of the facility. In addition, modern medicine advances rapidly, and new methods, including assessment techniques, emerge consequently. Consequently, more and more essential factors are added to the evaluation criteria. However, recent sources outline nine fundamental dimensions, including behavior, dementia, diabetes, cardiovascular disease, obesity, atlantoaxial instability, osteoporosis, thyroid, ad celiac disease (Tsou et al., 2020). Each of these nine dimensions requires particular attention during the process of assessment. Sufficient investigation of these elements may lead to a higher quality of care and better patient outcomes.
Behavior is one of the essential dimensions of the assessment of patients with Down syndrome. It should be conducted annually and rely on both the current state of the patient and on history. There are several factors that require consideration, such as the evaluation of the functional and adaptive skills of the patient. It may also be highly beneficial to evaluate significant events that may influence the physical and mental health of the patient. The behavioral factor should include an analysis of personal attitudes and general mood. The functional and adaptive dimension implies considerations regarding the presence of social skills and basic skills, which are essential for everyday life. The absence of rapid behavioral changes may indicate overall mental stability and health. However, behavioral issues and mental disorders are closely related to Down syndrome and may occur frequently. It may be critical to monitor patients’ behavior to diagnose mental health disorders and provide necessary treatment and care. Moreover, consistent monitoring may prevent misdiagnosis and contribute to the understanding of the patient’s health conditions in general.
Dementia is another significant factor that requires consideration when assessing patients with Down’s syndrome. In most cases, dementia is an age-related disorder that occurs more frequently after the age of forty. As Ola Adeyemi is only thirty years old, the above-mentioned criteria may be less relevant than for older patients. However, it may be necessary to address the issue regardless of age, even though it may rarely occur in patients under forty. Timely diagnosis is crucial in terms of care plan development, resource planning, and treatment implementation. It is also essential to provide a holistic approach to assessment as dementia-related misdiagnosis may have a destructive impact on the conditions of the patient. For instance, an adult’s functional decline may be falsely linked with dementia. Consequently, insufficient attention to other possible medical factors may be provided. Dementia-related assessments should include an investigation of both the current conditions of the patient and medical history. It may be beneficial to cooperate with caregivers and interview the patient in order to identify potential decline in everyday skills and provide a timely diagnosis. Hence, a comprehensive behavioral assessment may considerably contribute to the evaluation of other dimensions, including dementia.
Unlike dementia, diabetes may occur in adults with Down syndrome regardless of their age. Therefore, it may be essential to conduct regular screenings in order to diagnose diabetes and prevent diabetes-related complications. Adults over thirty with Down’s syndrome but without characteristic symptoms of diabetes and without diabetes-related disorders should be assessed at least once every three years. Patients with related problems such as obesity require screening every two years regardless of their age. Recent research has shown that diabetes occurs much more frequently in patients with Down syndrome than in adults without it (Alexander et al., 2016). Provision of early diagnosis and implementation of necessary treatment plans may have a considerable positive impact on outcomes in adults with Down syndrome. The benefits of timely identification of diabetes outweigh the potential problems related to treatment imperfections. Another significant benefit of regular diabetes screening is the possibility of diagnosing adults with pre-diabetes. In such cases, relatively minor procedures and care plan adjustments may prevent further development of the disorder. Even though regular blood draws may cause discomfort for patients and require additional resources, the possible advantages of timely diagnosis cover these costs.
Cardiovascular disease assessments and considerations represent another essential dimension closely linked with the age of the patient. However, it may be necessary to conduct regular screenings for adults with cardiovascular disease history or related disorders regardless of their age. Some sources state that cardiovascular disease represents the highest cause of death in the United States (Centers for Disease Control and Prevention, 2021). Therefore, it may be vital to provide comprehensive criteria in order to assess potential risks and inform patients with Down syndrome and their families. Even though conditions related to trisomy 21 may influence the cardiovascular system, the impact is insignificant and current studies provide insufficient knowledge regarding this subject. Hence, heart assessment frameworks for adults with Down syndrome do not differ from frameworks developed for patients without it.
Obesity also represents a significant factor of health-related considerations in patients with Down syndrome. As already mentioned, trisomy 21 may have diverse effects on behavior patterns. In many cases, these behavior variations may lead to a lack of exercise and an unhealthy diet, which may cause obesity. Therefore, it may be critical to evaluate potential risks and introduce an appropriate care plan that includes diet regulations and exercise recommendations. Moreover, it may be essential to address possible health-related consequences of obesity in order to provide a timely response and reduce them. In order to achieve these goals, regular monitoring should be conducted in order to track weight change. It is also critical to calculating the body mass index annually to diagnose the early stages of obesity and prevent its development. In addition, adults with Down syndrome may face a number of barriers that prevent needed physical activity. Hence, the U.S. Preventive Services Task Forse Behavioral Weight Loss Interventions to Prevent Obesity-Related Morbidity and Mortality in Adults should be implemented.
Atlantoaxial instability by radiographic criteria may occur in patients with Down syndrome. Hence, it may be beneficial not to use cervical spine X-rays to assess adults with trisomy 21. Moreover, the screening may lead to significant expenses, which, in some cases, may be unnecessary. The process may also involve restriction of patients with Down syndrome, which may be complicated by behavioral limitations and the need for physical activities. However, it may also be critical to conduct an assessment in order to identify potential risks of spinal cord injury in patients. The screening should be performed annually and should involve a physical exam and targeted history analysis. Such an approach may avoid the high cost yet provide sufficient data to introduce a timely diagnosis. Avoiding spinal injury is particularly important due to the possible risks of morbidity and death.
Osteoporosis considerations in patients with Down syndrome remain a highly debatable topic. There is no sufficient scientific data that would support the need for existing osteoporosis assessment frameworks. However, osteoporosis represents a considerable risk for adults with trisomy 21, and hence screenings should be conducted. It may be beneficial to introduce an individual approach for every patient in terms of decision-making about the necessity of assessments. Osteoporosis is an age-related disorder that may lead to deterioration of the bone structure, increasing the risk of fracture. Therefore, older patients may require more frequent screenings designed to diagnose osteoporosis. Furthermore, adults who experienced fragility fractures should be examined with osteoporosis-related screenings.
Adults with Down syndrome should be screened for thyroid annually starting at the age of 21. The condition emerges in adults with trisomy 21 and develops throughout the patient’s life. Hence, it is essential to conduct regular screening in order to provide a timely diagnosis, treatment, and care. However, patients with trisomy 21 are frequently exposed to obesity, fatigue, and constipation, which may significantly complicate the process of screening based on symptoms. In order to improve diagnostic accuracy and medical history analysis, it may be beneficial to use a thyroid-stimulating hormone test. Some sources also state that such an approach to assessment may provide additional information that might be valuable in terms of treatment plan development (Woodward et al., 2020). Better outcomes may be achieved by utilizing regular tests and subsequent treatment rather than providing a response after the occurrence of noticeable symptoms. Recent studies have also shown that hypothyroidism is more frequently observed in patients with Down syndrome than in other patients (Alexander et al., 2016). Hence, it may be particularly important to provide comprehensive and timely treatment with thyroid hormone as well as an individual approach to care plan development.
Celiac Disease represents another threat for people with Down syndrome and hence, requires regular assessment. Recent studies proved the interrelation between trisomy 21 and higher chances of celiac disease prevalence (Sharr et al., 2016). Both gastrointestinal and non-gastrointestinal indicators and symptoms should be evaluated annually during assessment procedures. In addition, it may be highly beneficial to utilize behavioral symptoms and medical history in order to improve diagnostic accuracy. However, there is no sufficient scientific evidence that human leukocyte antigen may be effectively used to diagnose celiac disease in patients without trisomy 21. Hence, further research may be needed as well as the implementation of other supplementary methods of diagnosis. If medical history and physical examination indicate possible risks of celiac disease, it may be necessary to conduct additional tests without delay.
Achievable Goals and Care Plan Development
In Ola’s case, it may be essential to develop a set of adequate, desirable, and achievable goals in order to ensure and support the transition to a more independent life. However, during the process of development, it may be necessary to address a wide variety of factors, including health conditions, personal goals, and choices. Therefore, it is vital to provide preliminary assessments in order to better understand Ola’s health-related needs and available opportunities. As already mentioned, there are nine fundamental assessment dimensions that require consideration. Achievable goals may significantly depend on Ola’s health conditions, and hence, it might be highly beneficial to consistently address all nine factors.
The case study states that Ola is a thirty-year-old man with Down syndrome. He is relatively young, and hence, several age-related risk factors may not require in-depth assessments. First, the risk of dementia becomes significant after the age of forty, which reduces the need to address the issue in Ola’s case. Second, cardiovascular problems are also normally observed in older age groups. However, it is vital to analyze Ola’s medical history in order to identify if he has any cardiac conditions, which may increase health risks. It is recommended to conduct diabetes-related assessments in patients with Down syndrome beginning at the age of thirty. Therefore, it may be necessary to evaluate the possible risks of diabetes in Ola’s case.
There are some other health considerations that should be assessed in order to identify Ola’s general well-being. As obesity is relatively common among adults with Down syndrome, it may be critical to address the issue in Ola’s case. Unfortunately, the case does not provide sufficient information to draw any conclusions regarding this subject. However, it is stated that Ola never learned to prepare and cook food for himself. The issue may be closely linked with one of the desirable and achievable goals. It may be highly beneficial not only to teach Ola how to prepare and cook but also to develop an appropriate diet that uses calorie management techniques and may prevent obesity. Such a goal may not only contribute to more independent life but also to healthy dieting.
It is also necessary to conduct annual assessments in order to address such risks as atlantoaxial instability, osteoporosis, thyroid, and celiac disease. Even though these factors may significantly influence care plan development, further assessments are needed. Nonetheless, one of the most significant factors that influence achievable goals and care plans is Ola’s behavioral models. As Ola attended school until the age of 18, there is a high probability that he has sufficient social skills and may take further steps towards independence. Moreover, it may be essential to consult with Ola and develop achievable goals in cooperation. Providing choice for patients is one of the fundamental principles of holistic caring. In addition, it may also contribute to the development of Ola’s self-confidence and independence. Socialization is the key element that may help Ola use public goods and start working. Recent research has shown that patients with down syndrome are able to acquire new skills (Oxelgren et al., 2019). Hence, it may be possible to help Ola learn to dress and use public transport. These critical activities of daily living should form the basis of achievable goals.
Attending social groups and communicating with people who have Down’s syndrome may also encourage independence. In addition, some sources state that the general well-being of adults with Down syndrome is closely linked with their social functioning (Robles-Bello et al., 2020). Ola might be able to achieve his desirable goals by sharing his experiences with other people. Moreover, a prime example of adults with Down syndrome who are currently working may encourage Ola to bring his independence to a new level.
Ultimately, it may be possible to divide Ola’s care plan into two essential elements. The first element includes his behavioral patterns, skills related to daily activities, socialization, and mental health. The second element is based predominantly on Ola’s physical health conditions and involves regular testing and care. Recent studies have found that the quality of life of patients with trisomy 21 is closely linked with health conditions and social life, which supports the importance of these two elements (Haddad et al., 2018). Moreover, healthy relationships and social activity correlate significantly with the physical health of the patient. Therefore, it may be vital to address both of these factors in order to improve Ola’s quality of life and help him achieve more independence.
Reflection on Individual Role in the Implementation of Care to Meet the Needs of Service Users
As modern medicine develops, new methods and approaches are implemented into practice. Such transformations are relevant regardless of the field of implementation as technological advancements, social frameworks, and principles emerge and influence every aspect of medicine. For instance, broader attention was provided to such topics as the significance of an individual’s personal values and beliefs. It may be essential to introduce caring services in accordance with the concepts of holistic care. According to some sources, holistic care relies on such factors as the physical, psychological, social, emotional, economic, and spiritual wellness of the patient (Cook et al., 2021). These fundamental principles of holistic care correlate significantly with current frameworks designed to assess patients with down syndrome and develop care plans. In order to achieve the goals of holistic caring, it may be vital to introduce a unified approach that addresses all factors. These goals emphasize the individual role of the person who is responsible for assessments and care planning. It may be necessary to introduce a comprehensive approach to meet the needs of the patient and improve outcomes.
My role in devising and implementing the care plan for Ola Adeyemi correlates significantly with the principles of holistic care. I tried to address as many significant factors as possible in order to improve both the physical and psychological health of the patient. Moreover, the social and emotional wellness of the patient represents essential elements that receive consideration. However, further assessments and care plan development may be required in order to address the economic factors and spiritual wellness of Ola Adeyemi. The concepts of patient-centered care also increase the individual role in the implementation of care to meet the needs of service users. During the process of care plan development, insufficient personal information served as the main barrier. Such a barrier may indicate the importance of healthy, trusting relationships between the patient and the social worker. It may be vital to collect as much data as possible in order to provide a comprehensive multi-factor assessment, which may serve as a basis for further care plan development.
This assignment helped me transform my understanding of principles related to the process of devising and delivering care. Even though I was familiar with the concepts of holistic care, this practical assignment encouraged me to use additional sources and provided broader knowledge. I also acknowledged the importance of such elements of holistic care as the social and psychological wellness of the patient. The “meeting the needs of service users” assignment served as a prime example of how different physical and psychological well-being aspects may interrelate and influence each other. It also helped me understand the significance of both hard and soft skills for social workers. For instance, health-related assessments rely predominantly on complex medical knowledge and skills. In contrast, behavioral evaluations and care provision are closely linked with interpersonal skills. A combination of comprehensive medical knowledge, empathy, sociability, and desire to help and support people in need represents an inseparable part of holistic, goal-oriented caring.
Reference List
Alexander, M. et al., 2016. Morbidity and medication in a large population of individuals with down syndrome compared to the general population. Developmental Medicine & Child Neurology, 58(3), pp.246–254.
Cook, N.F. & Elliot, M.L., 2021. Providing holistic care. In B. McCormack et al., eds. Fundamentals of person-centred healthcare practice. John Wiley & Sons, pp. 148–156.
Haddad, F. et al., 2018. An investigation of the determinants of quality of life in adolescents and young adults with down syndrome. PLOS ONE, 13(6).
Oxelgren, U.W. et al., 2019. An intervention targeting social, communication and daily activity skills in children and adolescents with down syndrome and autism: A pilot study. Neuropsychiatric Disease and Treatment, Volume 15, pp.2049–2056.
Robles-Bello, M.A. et al., 2020. Preliminary study on emotional competence in adults with down syndrome. International Journal of Disability, Development and Education, pp.1–19.
Sharr, C. et al., 2016. Detecting celiac disease in patients with down syndrome. American Journal of Medical Genetics Part A, 170(12), pp.3098–3105.
Tsou, A.Y. et al., 2020. Medical care of adults with down syndrome. JAMA, 324(15), p.1543.
Woodward, J.F., Jan, S. & Ciccarelli, M.R., 2020. Guidelines for care of adults with down syndrome. JAMA, 324(15), p.1509.
Children born with Down syndrome have an additional chromosome that alters how their brains and bodies develop throughout time. Consequently, those born with Trisomy 21 syndrome encounter various psychiatric difficulties (Söylemez, 2022). Observing their physical and facial characteristics makes it easy to identify them. Extra duplicates of genes are thought to cause several physiological and developmental disorders. To see which parts of the body this condition affects, check out the list below.
Heart
Many people with this condition have a congenital cardiac abnormality. Abnormalities of the atrial and ventricular membrane and valves result from an endocardial neoprene development problem. As a result, blood builds up in the heart muscles, making pumping more difficult.
Ears
Face morphology and upper nasal mucosa infections are the primary causes of chronic ear problems in newborns with Down syndrome. One-half of all Down syndrome newborns are born with stenotic earholes (Kreicher et al., 2018). As a result, it is more difficult to pinpoint the source of middle ear problems. When there are issues in the respiratory system, the eardrum becomes inflamed and bloated.
Eyes
It is prevalent for this genetic mutation to cause vision difficulties at birth. These are a few examples: Conjunctivitis and other eye diseases, vision loss, and glaucoma are all examples of refractive errors (Söylemez, 2022).
Trisomy 21 Concept Map
Effect on Other Body Systems
The baby’s chance of having several medical issues is raised because of the presence of Down syndrome. Signs include an overflow of stomach acids into the throat, known as atrophic gastritis, and celiac disease, sensitivity to wheat protein. Furthermore, the two-year chances of developing auditory and visual issues are significantly raised. Leukemia of blood-forming lymphocytes has a fair chance of developing in this youngster. Developmental delays and behavioral issues in youngsters with Down syndrome are common (“Trisomy 21 mosaicism”, 2020). People with Down syndrome deficiency are more likely to have developmental delays, such as growth retardation and delayed speech/language acquisition, than infants without the disorder. Attention deficit disorder, monomaniacal disorder, and temper tantrums are all examples of behavioral difficulties. Developmental situations known as autism spectrum disorders (ASDs) impair communication and interpersonal interactions in some individuals with Down syndrome (“Trisomy 21 mosaicism”, 2020).
In many cases, health problems that are sometimes apparent at birth or take time to develop affect persons with Down syndrome. Antipsychotics or other treatments may be able to alleviate these symptoms (“Trisomy 21 mosaicism”, 2020). Down syndrome is associated with a wide range of diseases, including but not limited to:
Problems with the heart, which are often apparent at birth
Thyroid abnormalities
Visual and hearing impairments
Obstructive nocturnal hypopnea
Diarrhoea and other digestive issues such as constipation, gastric reflux illness, and gluten intolerance (wheat protein sensitivity)
Aspects of autism include a lack of social skills, difficulty communicating, and repetitive conduct.
Kreicher, K. L., Weir, F. W., Nguyen, S. A., & Meyer, T. A. (2018). Characteristics and progression of hearing loss in children with Down syndrome. The Journal of pediatrics, 193, 27-33.
Among the most well-known chromosomal abnormalities in people, Down’s syndrome is brought on by a trisomy of chromosome 21. The syndrome has an impact on the majority of bodily functions, resulting in a number of distinctive clinical traits, notably learning disabilities, short height, a flattened face, a flattened nasal bridge, and a prominent tongue (MacLennan, 2020). Additionally, there is a higher chance of developing additional illnesses in people with Down’s syndrome (MacLennan, 2020). However, it is noteworthy that the risks of Down’s syndrome recurrence with following pregnancies depend on age and number of pregnancies.
Among doctors, it is common knowledge that once a mother’s age exceeds 30 years, her probability of having a child with Down’s syndrome rises sharply. A 30-year-old mother has a 1 in 1000 chance of giving birth to a child with Down’s syndrome (MacLennan, 2020). When reducing the risk of 1 in 1000 by three, it is possible to calculate an increasing likelihood that a woman will give birth to a child with Down’s syndrome with every five years beyond the age of 30 (MacLennan, 2020). Suppose the woman is younger than 35 years old, and the chromosomal anomaly was present in previous pregnancies. In that case, there is a 1 in 100 chance that the pregnancy will result in another Down’s syndrome diagnosis for the child (MacLennan, 2020). Future parents can choose to have a Down’s syndrome test as part of their prenatal treatment. According to current standards, a combined test should be used to assess for Down’s syndrome during the first trimester.
Hence, trisomy of chromosome 21 results in Down’s syndrome, one of the most well-known chromosomal disorders in humans. Yet, the rising likelihood of having a pregnancy with a child who is at risk of Down’s syndrome depends on the age of the mother and previous pregnancies with the fetus developing Down’s syndrome. In the first case, a woman over 30 years old has a higher chance of having a child with this condition. Furthermore, a woman who previously had a child with this syndrome has a 1% chance of recurring cases.
Reference
MacLennan, S. (2020). Down’s syndrome. InnovAiT, 13(1), 47-52.
This paper seeks to establish information on the mechanisms, which parents apply in handling children diagnosed with Down syndrome. This is in connection with teaching and educating children with Down syndrome. For some time now, there has been little awareness to parents with children suffering from Down syndrome on how they can deal with their children especially when it comes to teaching and educating.
Most parents will leave these duties to specialists and other supervisors in this field because they do not know their contribution towards such cases. Down syndrome is a chromosome disorder characterized by an extra chromosome number 21(Trisomy 21). Down syndrome, which is a relatively widespread birth defect, causes multiple malformations, mental retardation, and a characteristic face.
Objectives
This study aims at showing people and especially parents with exceptional needs solutions and options to broaden their choices in providing a healthy normal life for the child. The focus of this research will be on children with Down syndrome, show how perfectly it is to raise and educate a child who is diagnosed with this disability at home with no need for a specialist’s supervision.
This also outstanding by clearing a misconception that educating and taking care of children with this disability starts from home, not at school as some people may think. With only a little bit of awareness about this disability parents can raise children with Down syndrome just like normal children? The question this research is aiming to answer is how could parents teach and educate children diagnosed with Down syndrome.
Literature Review
Parents with disabled children have always faced anxiety and coping struggles with their exceptional children, it is already hard, raising children but to have a child with particular needs requires resources and a healthy positive mental state to make the lifestyle less anxious for both the child and the parent.
However, in reality when research was conducted coping with disabled children and keeping that healthy attitude is not as easy, so this research aims to understand the stressful reality of families with disabled children in the Saudi mainstream with the different factors and limitations that make this experience more stressful than parents who live in other regions.
Research tells us that parents have a high level of distress found up to 70% in mothers and 40% in fathers for severely disabled children, in addition the general psychological literature, and specific studies of disabled children show that the parental distress and family lifestyle affects the child’s behavioural, social and cognitive functioning and development to the worse or better, also levels of stress are related to how the family surrender to the limitations of their child and let it control and dominate their life, on the contrary optimistic attitude tends to show lower stress levels (Byrne & Cunningham & Sloper, 1988).
In a research on family adaption, coping and resources for disabled children stated that lack of resources and financial problems adds more stress and mal-adaptation to the family, because with financial support the family can contact immensely powerful programs to help them provide an almost normal life for their child in terms of education, discipline and even cognitive neurological checkups (Dykens, Hodapp & Finucane, 2000).
The research used The Family Stress and Support Questionnaire to gather data concerning issues parents encounter in raising children with disabilities, but out of 17 issues the research concentrated on two items, which are the interaction with family, friends and neighbours and the interaction and communication with different professionals and doctors.
The results of this research matched the results of others that emphasized the importance of coping strategies and perceptions in reducing the stress of the parents. More specifically this study revealed that strategies involving a healthy optimism, cooperation and family integration were strongly associated with reduced stress.
The research also found that the behavioural problem itself is not the indicator of the level of stress but the severity of that behaviour and frequency is what influences parental stress. In addition, the assessments used to convey these results were rating scales so they are not as direct as other measures, which are an appropriate measure to use for future research in this topic to yield different results.
More research in this area should examine the different developmental stages of the child in association with different stress levels and duration, also select a wider number of participants to reveal more accurate statistics, also the concentration on a specific population would give more understanding on how the culture plays a prominent role in influencing such cases and, therefore, showing different stress levels according to culture or society.
Methodology
In research, information can be from primary or secondary sources. Primary sources of information involve first hand information obtained using interviews, questionnaires, and observation. In this paper, most of the information is from a primary source. The method in use in this paper is a qualitative method; data will be collected from a case study of a Saudi family with a son who is diagnosed with Down syndrome.
This will be by interviewing the mother and her child after signing an informed consent for reasons of the research and previewing professionalism and confidentiality to further understand the experience and struggles mothers undergo. The methods in use will also reveal the role of the father in supporting such a problem with minimal knowledge and resources.
Discussions and Results
In trying to understand the families’ ways of dealing with their child, we gathered much information from the mother, father and child. It can be more traumatising to parents of a child with this condition who did not plan their pregnancy and may not be aware of the main cause for the condition of the child. In the event, the pregnancy was not planned for the parents may link the condition of the baby to other factors like contraceptives not knowing that it is Down syndrome.
In this case, the family had prepared to have another baby when the couple was in their late years. At the conception of the child, the mother was 39 years while the father was 45 years and the gap between the last child and this conception was five years. One of the risk factors in having a child with Down syndrome is the maternal age of the parents. In this situation, the parents need to have been aware that the chances of the coupe having a child with Down syndrome were high because the mother was above the age of thirty years.
The risk factors of having a child with Down syndrome include advancing maternal age, being carriers of the genetic translocation for Down syndrome, and having a child with Down syndrome. In the case of the Saudi family, the mother’s age was above 30 years. A woman’s chances of having a child with Down syndrome increase with age.
The reason behind this is with age older eggs have a greater risk of reprehensible chromosome division. Statistics have it that out of four hundred women above the age of 35 years one of them will give birth to a child with Down syndrome. In this case, it is noteworthy that parents are aware of their chances and the doctor can monitor the progress of the baby so that they can know of what to expect (Jones & Passey, 2005).
In being aware that conceiving at an older age for the woman may lead to giving birth t a child with Down syndrome, parents can prepare both psychologically and physically for the child. Most parents find it difficult to deal with Down syndrome children because they did not prepare for them and this situation gets them off guard. From the response, of the Saudi family they were not aware of the condition or possibility of the Down syndrome occurrence.
Despite the mother, attending all the anti-natal care needs, the tests did not reveal anything and neither did the doctor detect any abnormalities. As much as the mother was aware of the dangers of conceiving at her age, the doctor kept on assuring her that everything was okay and the that the pregnancy was normal.
The only notable abnormality was noted when the pregnancy was eight months old as the weight of the baby was less compared to the normal weight. Therefore, the parents did not have the idea they could have a child with Down syndrome. This is evident in the way the parents tried to detect other diseases and conditions that the child could be suffering from and not having Down syndrome in mind.
At birth, the child developed heart problems and the parents took the child for the tests except Down syndrome. Most parents do not believe in the option of them having a child with Down syndrome and will, therefore, try to relate the first signs of this condition to other problems but not Down syndrome.
This, in turn, makes exceedingly few parents to know mechanisms in which they can teach and educate their children with this condition. Down syndrome condition has impacts on both the intellectual and physical development of the individual and it calls for individual attention to the patients. In addition to the physical malformations, the intellectual handicap from Down syndrome is a serious issue to parents.
The intellectual problem of Down syndrome children is not evident in the early years of their lives but in the later stages of development. For this reason, the children will not develop as normal children and will require exceptional care from their parents and caregivers. There is a notion that these can only be done by specialized people and caregivers. This is not true as any parent can learn how to handle his or her child irrespective of their condition (Selikowitz, 2008).
Educating and teaching children with Down syndrome becomes an easy task when the parents get enough support from the relevant people. For instance, the news that their children had Down syndrome was devastating to the parents considering they did not expect this of their child.
In this society, the duty of taking care of the children lays most with the mothers as the fathers play the role of breadwinners. The difficulty of dealing with Down syndrome children comes when the mothers do not get enough support from their husbands. This is a responsibility that calls for both parents to play and in supporting each other; the parents can learn more ways of teaching and educating their child. In the end, there will be no need for employing the services of a specialist in dealing with the child.
Having support from the spouse will improve the way in which the parent will cope with a child with Down syndrome. The reason as to why the level of stress increases in mothers attending to Down syndrome children is the fact that their husbands distance themselves from the family leaving them to be the only parents to children.
Another notable coping mechanism for parents dealing with children with Down syndrome is talking about the issue with other people. Most people will opt to keeping the situation to themselves in most severe cases parents hide these children. Lack of being open about the situation of the Down syndrome child limits the ways in which the parent can obtain information on how to deal with the children.
Regarding the information of the Saudi family it took, them time before they could reveal the condition of their baby to other people. The parents only informed other family members but not the people dealing with the baby on a daily basis. This is dangerous as children with Down syndrome need exceptional care and cannot be taken care of in the same way as other normal children. Informing other people about the condition of the baby is paramount, so that other people can know how well to cope with the child.
Hiding or not revealing the condition of the baby only makes matters worse because the caregivers will not understand some of the characteristics of the child. In order for a parent, to cope well with a child with Down syndrome it is necessary that he or she becomes open to people about the condition of their child.
The major reason as to why parents with children with Down syndrome fear revealing their condition is for fear of stigmatization. These parents want their children to be categorized as normal, and yet they know that their children are not normal. Some families may associate these conditions with other elements like witchcraft hence the parents chose to keep mum about the issue.
The family in this case waited until their child was five years old that they let everybody know about his condition. At this age, the child may have already undergone stigmatization due to lack of knowledge on the part of the other people dealing with the child. It is, therefore, essential that parents be open concerning the condition of their baby, as this will improve the way in which they deal with their Down syndrome children.
Being open about the condition of the children will call for support from other people especially those dealing with the baby on a daily basis. Family and friends can be instrumental in coping with children with Down syndrome. For instance, in the case of the Saudi family the other members of the family turned out to be supportive of the child especially the youngest child.
Most of the learning the child with down syndrome has gotten from the seven and a half brother who keeps involving him in his play. As much as the other family members know about the condition of their brother, they do not treat him differently, but help him in his growth and development.
The extended family can also be supportive as long as they are aware of the child’s condition. In so doing the parents can come with better coping mechanisms and; hence, bringing up the child in a friendly and receptive environment. Increased support from the people around the child creates a positive environment for his or her growth and in most cases; the people learn how to handle the child without discrimination and stigmatization.
Lastly, the parents can cope with the condition by getting as much information in connection to the condition. Since most people are not aware of the condition, there is less information concerning the condition in most countries. It takes travelling to other established countries to even detect Down syndrome in a child, which means there is also less information about the disease.
It is notable that parents with children with Down syndrome get access to information concerning the condition so that they understand the growth and development of the child. The availability of information makes it easy for one to understand and deal with the situation and the child. Information can be in various forms for instance through books, the internet, physically through doctors, and other organizations.
Psychological help is also needed especially to the parents and other people in the child’s life. Through counselling and therapy, the parents can easily accept the situation and instead of basing so much on the negative side, they can use the energy to help the child.
Having a child with Down syndrome is not an everyday occurrence and may be depressing to parents and the people staying with the child. The availability of psychological help enables these people to cope with the situation bravely, and in turn help the child to grow (Ranad, Mona & Reem, 2005).
Coping with a child with Down syndrome requires several mechanisms because it is dealing with a person whose physical and intellectual state are not stable. For instance in the case study, the child is extraordinarily weak having undergone an open-heart surgery at six months of age.
Such a child will need exceptional attention and care including the food he eats so that he can be strong enough to develop and grow. In teaching and educating, such a chid requires information and support from every area of life. It is notable that the family members know the condition of the child so that they can offer the right support and advice to parents.
This can be by playing with the child, feeding the child, educating and teaching the child. The view of leaving the work of teaching and educating a child with Down syndrome to specialists needs to stop as this can start from home. By family members playing and interacting with the child, they will be educating the child on the basics of life and the rest they can get from school.
Conclusion
Down syndrome is a condition that can occur in any child of any family, and this makes it indispensable for everyone to have information regarding the condition. People need to know the causes of Down syndrome and how to deal with children having the condition.
Interacting with the child with Down syndrome is the main mechanism of coping with the situation. By regularly interacting with the child, we provide a positive environment in which the child grows and develops. This, in turn, will be a way of teaching and education a child with Down syndrome and hence, reduce the notion that these cannot take place at home.
Being open about the situation is also another way in which parents can easily deal with children suffering from Down syndrome. Revealing the condition to other people especially family members enhances the support one gets in dealing with the child also increases the child’s acceptance in the family. In so doing, people will be ready to understand and help the parent in coping with the child with Down syndrome.
In the event, parents become aware of the several methods of dealing with children with Down syndrome the availability of information concerning the condition will increase. It is, therefore, noteworthy that parents accept the occurrence of the situation as a first step of dealing with children with Down syndrome.
References
Byrne, A. E., Cunningham, C., & Sloper, P. (1988). Families and their children with Down’s syndrome: one feature in common. New York: Routledge.
Dykens, E. M., Hodapp, R. M., Finucane, B. M. (2000). Genetics and mental Retardation syndromes: a new look at behaviour and interventions. Virginia: Paul H. Brookes Publisher Company.
Jones, J., & Passey, J. (2005). Family adaptation, coping, and resources: Parents of children with developmental disabilities and behaviour disorders. New York: Cengage Learning.
Ranad, K., Mona, F., & Reem, H. (2005). The Coping Mechanisms of Parents with Down Syndrome. New York: Routlege.
Selikowitz, M. (2008). Down syndrome. London: Oxford University Press.
Down Syndrome (DS) is a genetic disorder thought to occur in 1 of 800 births, causing cognitive and intellectual challenges in a child’s development (Heyn & Perlstein, 2011). DS is one of the foremost causes of cognitive impairment in children; however, with early interventions and medical advances, the potential for individuals with DS is expanding by the day.
Although DS is associated with mild to a moderate learning disability, heart defects, gastrointestinal problems, thyroid disorders, and developmental delays such as difficulties in hearing or vision (Heyn & Perlstein, 2011), the interventions currently available guarantees individuals with DS and their families a stress-free, fulfilling and prosperous life. Indeed, life expectancy for people with DS has noticeably improved over the last couple of decades as a direct consequence of the improvement of medical care and social inclusion (Veek et al., 2009). Currently, an individual with this genetic disorder but in good health will live to celebrate his or her 55th birthday.
What individuals with Down Syndrome Need to Know
It is important to stress that just like their counterparts who have developed normally, individuals with DS can live to go through the formal system of education and secure rewarding careers if early intervention measures are taken (Veek et al., 2009). Like all people, individuals exhibiting symptoms and signs of DS possess a multiplicity of talents and abilities. As such, these individuals are always encouraged to take a positive outlook on life and develop a strong self-identity. In particular, individuals with DS should acknowledge the following.
DS is not linked to race, nationality, ethnicity, religion, or socioeconomic standing. Anybody can be born with the defect to develop a positive coping mechanism. Individuals with DS need to realize that everybody has abilities and disabilities and that people have been able to turn their disabilities into abilities. A positive coping mechanism is essential in the management of DS (Veek et al., 2009).
The health challenges that associated with the genetic disorder can be treated, and there exist a wide range of resources with rich information on the management and coping of individuals and their families who are living with DS.
Research demonstrates that parents/family members of individuals with DS experience a high level of stress and associated adverse outcomes than parents/family members of average children (Veek et al., 2009). With modern intervention strategies and educational opportunities for children with DS, this need not be the case.
Parents/family members and educators of individuals with DS need to realize that the health, development, and capabilities of these individuals sorely rest on them, thus the need to provide an enabling environment that will encompass medical intervention, social skills development, educational nurturing, and social and emotional support to spur knowledge development, social and emotional control, and creativity in these individuals (Veek et al., 2009). As a matter of necessity, parents should:
join social networks and medical platforms that provide information and emotional support so as to curtail high levels of stress associated with rearing children with DS;
know that every individual with DS, like any other child exhibiting disabilities, is assured the basic right of a free and meaningful education offered in an environment that is least restrictive (NDSC, n.d.);
make sure that in addition to fundamental education, children with DS are exposed to continued school experiences to assist in the development of a strong feeling of personal identity, self-respect, and self-confidence. Research has demonstrated that inclusion in routine classrooms provide a chance for these children to engage in mutually fulfilling relationships with others, hence triggering and reinforcing the development of cognitive and academic skills (NDSC, n.d.);
ensure that children with DS undergo the necessary immunizations and screening procedures to enhance management.
Reference List
Heyn, S.N., & Perlstein, D. (2011). Down Syndrome. MedicineNet.com. Web.
National Down Syndrome Congress. (n.d.). Web.
Veek, S.M.C., Kraaij, V., Garveniski, N. (2009). Down or up? Explaining positive and negative emotions in parents of children’s with Down Syndrome: Goals, cognitive coping and resources. Journal of Intellectual & Developmental Disability, 34(3), 216-229.
Down syndrome (DS) refers to a genetic disorder marked by the occurrence of an extra chromosome 21. It can be found in individuals of all races, nationalities, and socio-economic levels and is considered one of the most common chromosomal conditions (Meneghetti et al., 2021). People with Down syndrome experience developmental and cognitive delays and are characterized by a distinctive facial appearance. This disorder varies in severity and can be associated with a number of medical abnormalities and co-occurring conditions, such as heart defects, obesity, immune system problems, blood disorders, short- and long-sightedness, and others (Duffy, 2017). Furthermore, DS can affect learning abilities, which implies that a student with this syndrome would need support with education. This paper aims to discuss Down syndrome in a student and explore how the condition can affect individuals, as well as their learning abilities.
Condition and Characteristics of Down Syndrome
Down syndrome refers to a condition that combines physical and cognitive symptoms resulting from the presence of an extra chromosome 21. This paper summarizes my observations of a student with DS and scientific research findings with regard to this syndrome and its implications on people’s lives. Currently, the causes of DS remain unknown, and this condition is not attributed to any actions or habits of the mother-to-be before conception or during pregnancy. At the same time, the woman’s age of 35 and older is considered a risk factor that increases the chance of Down syndrome in the baby (Duffy, 2017). An extra chromosome 21 changes the way the body develops, which can cause physical and learning issues, which suggests that a student with DS requires additional support.
The effects of Down syndrome can vary in different individuals. The student observed was diagnosed with the most common form of this condition, trisomy 21. Generally, three types of DS are distinguished: regular trisomy 21, mosaic DS, and translocation DS (Duffy, 2017). Trisomy 21 is the most common condition, which is characterized by the presence of three copies of chromosome 21 and found in 94% of people diagnosed with this disorder (Duffy, 2017, p. 16). In about 2% of people with Down syndrome, some cells have three while others have two copies, which is defined as mosaic DS (Duffy, 2017, p. 16). This condition is marked by less distinctive characteristics of this syndrome due to the presence of typical cells. Translocation Down syndrome is found in about 4% of people with DS and is diagnosed when the person has “extra chromosome 21 material attached to another chromosome” (Duffy, 2017, p. 16). This condition results from an abnormality in the genes of one of the parents.
The characteristics of Down syndrome can be present to a lesser or greater extent in different people. They include short stature and neck, hypotonia, a flattened face, almond-shaped eyes, small ears and mouth with protruding tongue, larger space between the big and second toes, and a palmar crease (Duffy, 2017). Furthermore, people with Down syndrome experience delayed physical growth and intellectual disability. Most of the distinctive physical features along with cognitive delays can be found in the student observed. DS implies an increased risk of thyroid dysfunctions, obstructive sleep apnea, leukemia, epilepsy, immune deficiencies, and heart defects. Furthermore, as reported by Duffy (2017, p. 17), individuals with this syndrome may develop “Alzheimer’s disease or dementia around 20-30 years earlier than people in the general population.” Nevertheless, they can live a fulfilling life and reach traditional milestones with extra support. A student with DS is characterized by both difficulties and strengths resulting from the condition, which can be considered to increase learning opportunities.
How Down Syndrome Affects People
People with Down syndrome can face additional challenges in comparison to the general population. In addition to distinctive physical features and increased risk of certain medical co-occurring conditions, individuals with DS experience various levels of cognitive delays, ranging from mild to severe. As stated by Annus et al. (2017, p. 11), people with this condition are characterized by late maturation of the central nervous system and have “a neurodevelopmentally distinct brain and invariably developed amyloid neuropathology by age 50”. In other words, the trisomy of chromosome 21 alters the brain structure and development. According to Duffy (2017), common difficulties include delayed speech and language development, memory issues, slow learning, impulsive behavior, poor judgment, and short attention span. The student observed has language and memory difficulties, as well as distractibility.
At the same time, social stigma presents a significant challenge for people with DS and their families. Despite positive changes over the recent decades in terms of social support, widespread stigmatization and discriminatory attitudes continue to affect children with Down syndrome, deterring their self-actualization (Duffy, 2017). The needs of students with this disorder differ from the general population, along with the emotional and practical challenges they face. Social inclusion is essential, and increased awareness of the syndrome has a beneficial effect on the productivity and life span of people with DS.
Learning Disabilities and Abilities with Down Syndrome
This paper reflects on a student with Down syndrome and explores the effects of this condition on his learning profile, supported by research findings. As Meneghetti et al. (2021, p. 2) report that “individuals with DS generally have an intelligence quotient between 25 and 70, and a mental age of 5–7 years.” Such characteristics need to be considered when supporting students in their education. Difficulties can include vision and hearing weakness, slower motor development due to lower muscle tone, poor auditory memory, struggling with number skills, and delays in using spoken language compared to non-verbal communication. The gap between the child’s understanding and ability to express themselves presents a significant challenge and can trigger behavioral problems (Meneghetti et al., 2021). At the same time, students with DS are characterized by relative strengths, and a relevant approach can provide a constructive learning experience and unveil individual abilities and talents.
In particular, social functioning is less delayed in students with DS, and their non-verbal skills and high capacity for social understanding and empathy can be utilized to encourage cognitive development. According to Meneghetti et al. (2021, p. 3), “visuospatial reasoning seems crucial to path learning, especially in individuals with DS.” This observation implies that supporting education with pictures, objects, and gestures can benefit students during the acquisition of literacy, language, and motor skills. Furthermore, many children are characterized by strong visual short-term memory and advanced reading abilities compared to the expectations based on their cognitive levels (Duffy, 2017). Overall, the unique strengths and weaknesses of the student with Down syndrome constitute a foundation for developing an effective educational strategy that will meet the specific needs.
To conclude, Down syndrome is a common chromosomal condition that can affect a person’s physical and cognitive abilities and increase the risk of co-occurring medical conditions. Hence, it is critical to contribute to an inclusive society and overcome social stigmatization that can prevent people with Down syndrome from reaching their full potential. A student with DS is characterized by both strengths and difficulties which need to be considered to improve learning outcomes and encourage cognitive development.
Reference List
Annus, T. et al. (2017). The Down syndrome brain in the presence and absence of fibrillar β-amyloidosis. Neurobiology of Aging, 53, pp. 11-19. doi: 10.1016/j.neurobiolaging.2017.01.009
Duffy, R. (ed.) (2017) Down’s syndrome: The essential guide. Peterborough: Need2Know.
Meneghetti, C. et al. (2021) ‘Path learning in individuals with Down Syndrome: The challenge of learning condition and cognitive abilities’, Frontiers in Psychology, 12, pp. 1-7. doi: 10.3389/fpsyg.2021.643702
