Down syndrome is a chromosomal disorder resulting from the existence of an extra copy chromosome 21. The condition got its name from John Land Down; the doctor who first described it. Down syndrome is associated with symptoms that impair cognitive ability, physical development and often alter facial appearance.
Down syndrome patients are also prone to various health complications including heart disease, hearing problems, dementia, gastroesophageal reflux disease, recurrent ear infections, obstructive sleep apnea and complications with their intestines, eyes, skeleton, and thyroid. Research has shown that the odds of having a baby with Down syndrome grow as the woman ages.
People with Down syndrome have largely varying levels of mental developmental disability. A few of these individuals have notable to extreme mental disability while others show little or no mental problem symptoms. Downs syndrome occurrence is estimated at about 1 in 800-1000 births.
A number of factors affect this statistic but the most profound influencing factor has been found to be the age of the mother. It is not unusual for people with the proper set of chromosomes to share some physical features associated with Down syndrome. Some of these shared features may include an unusually small chin, an unusually round face, a large protruding tongue, Simian crease across palms, uneven toe spacing and poorly toned muscles (Kumin, 113).
The health and overall development of children with Down syndrome can be greatly improved by early intervention, regular screening for any complications, vocational training, and the existence of a caring and supportive social environment. The physical implications of Down syndrome caused by the chromosomal disorders can however not be overcome. Ironically, Down syndrome has some positive health implications; Down syndrome patients have been observed to have greatly reduced incidences of cancer.
Mental development in children with Down syndrome varies greatly and at birth, it is not possible to predict the extent to which the child will be affected in terms of physical symptoms and cognitive development. Intervention methods for these children are normally unique depending on the individual and are developed soon after birth to ensure that the child gets the best chance at leading a normal life (Dykens, 250).
Speech delay is common among individuals with Down syndrome and the individuals need to be taken through speech therapy to help them develop speech. Walking in children could also be impaired by Down syndrome. Some children will not walk up to age 4, while others are able to walk at age 2.
Language learning can be enhanced by screening for ear problems and hearing loss, employing hearing aids (as necessary) and fostering timely communication intervention. The use of augmentative and alternative communication methods is common to aid in communication. Some of these methods include body language, pointing, signs, objects, and specially designed graphics.
Down syndrome does not have a cure or standard management program due to the diversity in its manifestation. Some individuals may need intensive surgery and therapy while others have minimal health complications and can lead normal lives without the need for any therapy. Parents of children with Down syndrome have come together to try and find alternative therapies to improve mental growth and physical appearance. Suggested methods are plastic surgery and nutritional supplements (Roizen, 150).
Ethically, there have been concerns about the number of abortions associated with Down syndrome. In the year 2002, 91-92% of pregnancies in the US diagnosed with Down syndrome were terminated. In the UK, the figure remains relatively constant at about 92%.
Strides have been made to ensure that individuals with Down syndrome are accepted more in society to facilitate their leading normal lives. Parents, teachers and other stakeholders have in recent years advocated the inclusion of these individuals in society rather than exclude them in isolated institutions as was the case before.
Works Cited
Dykens, Elisabeth M. Psychiatric and behavioral disorders in persons with Down syndrome. Mental Retardation and Developmental Disabilities Research Reviews 13(2007):272-278
Kumin, Libby. Speech and language skills in children with Down syndrome. Mental Retardation and Developmental Disabilities Research Reviews 2(1996):109-115
Roizen, Nancy J. Complementary and alternative therapies for Down syndrome. Mental Retardation and Developmental Disabilities Research Reviews 11(2005):149-155.
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.
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 patients 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 patients health conditions in general.
Dementia is another significant factor that requires consideration when assessing patients with Downs 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 adults 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 Downs 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 patients 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 Olas 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 Olas health-related needs and available opportunities. As already mentioned, there are nine fundamental assessment dimensions that require consideration. Achievable goals may significantly depend on Olas 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 Olas case. Second, cardiovascular problems are also normally observed in older age groups. However, it is vital to analyze Olas 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 Olas case.
There are some other health considerations that should be assessed in order to identify Olas general well-being. As obesity is relatively common among adults with Down syndrome, it may be critical to address the issue in Olas 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 Olas 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 Olas 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 Downs 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 Olas 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 Olas 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 Olas 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 individuals 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.246254.
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. 148156.
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.20492056.
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.119.
Sharr, C. et al., 2016. Detecting celiac disease in patients with down syndrome. American Journal of Medical Genetics Part A, 170(12), pp.30983105.
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.
Down Syndrome (DS) is a genetic disorder thought to occur in 1 of 800 births, causing cognitive and intellectual challenges in a childs 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 childrens with Down Syndrome: Goals, cognitive coping and resources. Journal of Intellectual & Developmental Disability, 34(3), 216-229.
To this day scientists are applying scientific knowledge, understanding, and inquiry to enable the development of solutions, discoveries, design action for sustainability, evaluate economic, social, and environmental impacts, offer valid explanations, and make reliable predictions. Resulting in both beneficial and unexpected consequences; all of which require monitoring, assessment, and evaluation of risk, and provide opportunities for innovation.
Scientists have applied knowledge and found ways to identify if an infant has Down Syndrome before the mother gives birth through Screening and Diagnostic tests. Including; Chronic villus sampling (CVS). In this practice, cells are detached from the placenta and used for examination of fetal chromosomes. This is typically performed in the 1st trimester between 10 and 13 weeks of pregnancy. Screening tests during pregnancy is offered as a routine of parental care. An unforeseen consequence is the risk of miscarriages through CVS, today this rate appears low as of improvements made over time. However, positive misdiagnosis of a child having Down syndrome was recorded in numerous publications, this is because often the cells can cause a false indication or there could have been a failure to take competent and thorough genetic screening history of parents. Therefore, causing false accusations and further calculations. Today there is only a chance of 1 in 100 women that will experience a miscarriage through this process. First trimester integrated screening tests include a blood test, whereas second-trimester testing uses a quad screen to measure blood levels, Alpha-fetoprotein, HCG, Estriol and Inhibin A; all of which are pregnancy-associated substances.
These tests allow inform the risks of carrying a genetically impacted baby and can further help make decisions about diagnostic tests. A blood test measures the levels of associated-plasma-protein-A (PAPP-A) as well as the pregnancy hormone; Human Chorionic (HCG) this helps indicate problems with the baby. They also use a ‘Nuchal translucency test’ to analyse the baby’s neck through an ultrasound. When an abnormality is present there will often be a build-up of more fluid than usual in the neck tissue.
This disorder is non-curable but can be improved. Researchers are currently evaluating the proteins of individuals with trisomy 21 for the first time. To improve understandings of how supernumerary copies of chromosome 21 affects human development. The ‘NICHD’ (National Institute of Child Health and Development) scientists have researched development of animal models, helping study the syndrome, examination of specific genes and gene groups that may have a role in the cause, understanding the maternal age role within the disorder as well as developing methods of diagnosis parentally and postnatally.
Down Syndrome is profoundly involved with interactions of science within the world. New medicines and treatments have been introduced to help advance the skills of patients as the disorder cannot be cured. Speech, physical, occupational, and educational therapy are used to help people live happy and productive lives. In 1983 the life expectancy of a person living with Down Syndrome was only 25 years old. Today the average age is 60 years old showing the enhancement of medicines and treatment now provided within modern times. Individuals who have Down Syndrome have become increasingly integrated into society as well as community organisations, such as attending schools, health care systems, workforces as well as social and recreational activities. This Genetic disorder negatively affects the communication of effected people with society.
This disorder has a large influence on the lives affected. People who suffer from severe Down Syndrome require 24/7 care and monitoring to assist them with day to day deeds that others do with ease. It was recorded that the average IQ of a young adult with Down Syndrome is 50, equivalent to the mental ability of an 8–9-year-old. This indicates that it is harder for patients to get a job. Within today’s modern society several prejudice employers are hesitant to employee people suffering from this disorder. The workforce is self-sustaining and would require employers to fund support workers to work alongside these people. Unlike past times there are now places that only cater jobs for people with this syndrome as they have 24/7 providing’s such as ‘Hugs and Mugs café’. A favourable shop; Ikea, is known to go out of their way to hire people with Down Syndrome to incorporate them into the business and provide fulfilling undertakings. Delayed development and behavioural difficulties effect speech and developing of understandings instigating a barrier where children can’t communicate or socially interact; leading to behavioural issues of tantrums and obsessive and compulsive conduct.
Decades ago people with Down Syndrome were institutionalized at birth as society and doctors believed they couldn’t learn nor were they capable to add value to the world. This meant that they weren’t capable to get jobs, join schools or have an education. They have little to no independence and overall were not able to lead a normal life as they weren’t considered ‘normal’. Proving society has evolved to be accommodating and supportive, however, are still seen as less and divided from the public even if people won’t admit it; being a generalised statement based on public opinions. This disorder makes people more susceptible to several other conditions, such as giving birth to children who will have the same disorder, congenital heart disease, cancer, hearing loss, Leukemia, Gastroesophageal reflux, Celiac disease, and dementia. Kids who have the disorder are likely to get infections, effecting lungs and breathing. Kids with Down syndrome tend to develop slower than other children do making it hard for them to ‘fit in’. Common traits include low muscle tone, small stature, slanting eyes, Cognitive delays, heart defects, digestive abnormalities, vision issues and hearing loss, etc; all of which vary and are possessed differently.
Imagine having someone treat you different because you have a disorder. Imagine being criticized for understanding and viewing the world differently. Having a genetic disorder can greatly affect someone’s life in both positive and negative ways. According to Kumin and Schoenbrodt (2015), the commonness of Down syndrome is said to be about 8 per 10,000 people in the United States (pg. 330). In the article it states that “Down Syndrome is a genetic condition affecting memory, cognition, sensory and motor skills, hearing and communication (Kumin & Schoenbrodt pg. 330, 2015). For this life stage paper, the social worker student will be examining the challenges of down syndrome individuals in middle adulthood and how it affects them. It is the social worker student’s hypothesis that individuals who are diagnosed with down syndrome can be autonomous if the adequate facilities were built and created to help them function properly.
Topic Description
Three critical points that are important issues concerning Down Syndrome individuals are their longevity, the periods in their life at which certain tasks are mastered, and at what point is functioning independently is achievable (Gilmore, Campbell, & Cuskelly, 2003). People tend to treat people with disorders differently and sometimes they are unaware of how it affects them. People also tend to undermine people with disorders as if they are not capable of understanding. Kumin and Schoenbrodt (2015) stated that “because people with Down syndrome can often understand much more than they can express, these difficulties with speech and language often lead relatives, friends, and potential employers to underestimate the intelligence and capabilities of people with Down syndrome (pg. 331).” Some also believe that people with the disorder can not function by themselves however, from volunteer experience, the social work student believes differently. Because of the disorder, it was suggested that people with Down syndrome would not have a very long lifespan. But according to Kumin and Schoenbrodt (2015), the life expectancy of people with Down syndrome has dramatically increased between the years, with adults reaching their 50th and 60th birthday (pg. 330).
Problem Analysis
According to an article written by Gilmore, Campbell, and Cuskelly (2003), it was stated that “people generally feel uncomfortable when interacting with individuals with disabilities believed that this was mainly due to their lack of knowledge about the disorder (pg.66)”. If people would take the time to be educated on how a person with down syndrome works, they could feel more comfortable interacting and being around them.
Life Stage
The social work student chose to examine middle adulthood, ages 34-60 with Down syndrome. According to Newman and Newman (2015), the developmental tasks are managing a career and nurturing an intimate relationship (pg. 469). The prime adaptive ego and core pathology is care and rejectivity (Newman & Newman, 2015, pg. 469). A person with Down syndrome can perform all of the above but in their own special way of understanding. As stated in the paper, even with a disorder, a person could still maintain a job properly. Since Down syndrome is recognized in the earlier stages of life, the most intimate relationship would be with their parents and later their caregiver (Gilmore, Campbell, & Cuskelly, 2003).
Correlation of Topic and Stage
Down syndrome directly impacts middle adulthood negatively. For example, when things happen in life, people with Down syndrome react differently regardless if it’s happy or sad. Nevill and Benson state that people with Down syndrome should have access to psychosocial supports that teach coping and self-regulation skills when faced with life events and stressors (pg. 941, 2018). It impacts the age group because at this point in life, one should be independently living but because of the disorder, help is always needed. It also negatively impacts this life stage because with aging comes other diseases and problems. In an article written by Carr and Collins, it was stated that as person with down syndrome ages, they become high risk for deterioration in different areas of functioning and dementia (pg. 743-744, 2018).
Application of Research
Just because someone has a disorder does not mean they can not live accordingly just as a person without a disorder. Carr and Collins state that has been evidence of people with Down syndrome living past expectancy and living semi-independently (2018). This information can prove the social worker student’s hypothesis in saying that people with Down syndrome can be autonomous. It was also stated with stability and the right care and skills, a person with Down syndrome can learn to care for themselves with little no help needed (Carr & Collins, pg. 746, 2018).
Intervention Strategies
According to Kumin and Schoenbrodt (2015), people with Down Syndrome can receive government assistance such as SSI because they are disabled (pg. 335). They also can apply for employment at local store which can give them some type of resource for money. Living in a care facility can help someone with Down syndrome because not only are they being cared for they can develop long-lasting relationships with the other residents. Based on research, a person with Down syndrome could live semi-independently with a caregiver. Kumin and Schoenbrodt state that with the appropriate resources and training, a person with Down syndrome could maintain a full-time job which could improve a person with Down syndrome overall well-being (pg. 335, 2015). Having a job could increase how they feel about themselves, make them feel wanted, and instill great skills.
Implications for Social Work Practice
Social workers that work with people who have down syndrome can make things go easier by creating a care plan for their client. It is the social worker’s job to make sure their client is taken care of and comfortable. There could weekly meetings about the daily happenings of the client’s life either with the client, caregiver, and/or both. For future educational purposes, there could be more research done on a person with Down syndrome being more autonomous. Also pertaining to the social work student’s hypothesis, there could be more research done about facilities being built to host people with disorders.
References
Carr, J., & Collins, S. (2018). 50 years with Down syndrome: A longitudinal study. Journal of Applied Research in Intellectual Disabilities, 31(5), 743–750
Gilmore, L., Campbell, J., & Cuskelly, M. (2003). Developmental Expectations, Personality Stereotypes, and Attitudes Towards Inclusive Education: community and teacher views of Down syndrome. International Journal of Disability, Development & Education, 50(1), 65
Haddad, F., Bourke, J., Wong, K., & Leonard, H. (2018). An investigation of the determinants of quality of life in adolescents and young adults with Down syndrome. PLoS ONE, 13(6), 1–19.
Kumin, L., & Schoenbrodt, L. (2016). Employment in Adults with Down Syndrome in the United States: Results from a National Survey. Journal of Applied Research in Intellectual Disabilities, 29(4), 330–345.
Nevill, R. E., & Benson, B. A. (2018). Risk factors for challenging behaviour and psychopathology in adults with Down syndrome. Journal of Intellectual Disability Research, 62(11), 941–951
Newman, B.M., & Newman, P.R. (2015). Development through life: A psychosocial approach. (13th ed.). Pacific Grove, CA: Brooks/Cole.
When Paula had her son, Keaton, they didn’t know that there was a little something special about him. When Keaton was born, he looked a bit different from the normal baby, but Paula’s family physician dismissed her family’s concerns and insisted that he was a healthy, normal child. When Keaton was seven months old, Paula decided to submit him to a blood test to curb her concerns. As it turns out, Paula’s suspicions were right- Keaton had Down Syndrome. Paula knew nothing about Down Syndrome, if her little boy was gonna be alright, or what she needed to do to raise him safely. When having a child with Down Syndrome, it’s important to know about the condition and the highs and lows that come with such a life changing (Centers, N.D.).
Causes
Down Syndrome is a chromosomal condition that mainly occurs during the growth and development of a fetus. It is caused by Trisomy 21. Trisomy 21 is when each cell in an individual’s body has a third copy of chromosome 21. When the body has an extra copy of a chromosome, and in this case- an extra copy of chromosome 21, it can alter and interrupt the process of normal growth and development in infants and children (Genetics, 2012).
Symptoms
Down Syndrome can affect the body in many different ways. Typically associated with Down Syndrome patients include birth defects and delayed development. Various heart problems and heart defects are also popular with Down Syndrome patients. A few other examples of symptoms include digestive problems, hearing problems, and behavioral problems such as attention problems, obsessive/compulsive disorder, and tantrums (Genetics, 2012).
Incidence
Down Syndrome is currently the most common chromosomal condition that is diagnosed in the United States in children, especially boys. About 1 in 800 newborns that are born have Down Syndrome, and there are about 5300 babies born each year that have Down Syndrome. Currently, in the United States, there are about 200,000 people with the condition (Genetics, 2012).
Inheritance
Currently, it has been established that Down Syndrome does not get inherited through genetics, meaning, that it does not run in families. The condition is the result of a chromosomal error since there is an extra chromosome. Down Syndrome usually occurs at random, and the chromosomal error mainly occurs in the eggs of women than in the sperm in men. When it does occur, an egg or sperm when multiplied may have an extra copy of the chromosome 21 and can give it to offspring when fertilized. The parents may have this error in one sex cell, but not have the disease (Gentics, 2012).
Diagnosis
When diagnosing Down Syndrome, healthcare providers have the options to do it in a number of different ways during pregnancy. Some tests they run can include a prenatal screening test, which can only show if there is an increased chance of Down Syndrome- but it cannot determine if it is present. If there is an increased chance, then a prenatal diagnostic test may be ordered, which is a test that can determine with certainty is Down Syndrome is present. It is a test in which a genetic sample is removed from the fetus. Although, unlike the screening test, the prenatal diagnostic test has a slightly greater risk to harm the baby. There are different types of diagnostic tests, such as an amniocentesis test, which is when amniotic fluid is removed and tested for an extra chromosome 21. This test cannot be performed until the 14-18th week of pregnancy. Another diagnostic test includes a percutaneous test, which is when a sample of fetal blood is taken out through the umbilical cord and tested for the extra chromosome. Unlike the amniocentesis test, it cannot be performed until the 18-22nd week of pregnancy. Other tests that can be performed include an ultrasound test, which is when the back of the fetus’s neck is checked for fluid- which is a great indicator of Down Syndrome (Eunice…How, N.D.).
Treatment
While there are a variety of ways to treat Down Syndrome, there is no cure (Medline, 2018). There are no single or standard treatments for the condition. Treatments are mostly long-term, with a few surgeries here and there for different problems. When a newborn with Down Syndrome is born, he/she may require immediate care or treatment right after their birth. Down Syndrome patients can receive care or help from different personnel such as physicians, special educators, speech therapists, occupational therapists, and physical therapists. Some examples of treatments include physical therapy, speech/language therapy, occupational therapy, and emotional or behavioral therapy. Physical therapy can help build motor skills, increase the child’s muscle strength, and improve their posture and balance. Speech/language therapy can help Down Syndrome children learn proper communication skills, and can help them use language effectively. Occupational therapy can help adjust everyday tasks to match the child’s needs and abilities, and can help the patient learn self-care skills. Emotional or behavioral therapy can help children deal with their emotions and help build their coping skills and mechanisms (Eunice…What, N.D.).
Discovery and Current Research
Down Syndrome was first discovered in 1866, by John Langdon Brown, who first successfully classified the symptoms and causes of the condition as Down Syndrome (Down, N.D.). Over the years, different clinical trials have been performed to help better the lives of people who live with Down Syndrome. Currently, the relationship between Down Syndrome and Alzheimer’s has been looked into. Scientists have been identifying signs in the blood that track Alzheimer’s in people with Down Syndrome (Down…Alzheimer’s, N.D.).
Support
There are many different support groups and resources that help people with Down Syndrome, but the most well-known and popular group is the National Down Syndrome Society. NDSS is a non-profit organization that helps people with Down Syndrome by providing them with information regarding their condition, treamments, and lifestyle (Genetics, 2012). In Wichita KS, the Down Syndrome Society of Wichita is a local support group for citizens with Down Syndrome. They help raise awareness for people with Down Syndrome and provide resources for people and families to reach out to when they may need help or have questions (Improving, N.D.).
Promotion
There are many public figures in the Hollywood movie industry that either have or raise awareness for Down Syndrome. Some of these people include fashion model Jamie Brewer and actress Lauren Potter. Jamie Brewer was the first woman with Down Syndrome to walk down the runway at New York fashion week. She has been working with the Texas lawmakers to try and ban the use of the word retarted. Lauren Potter is a well-known actress who uses her platform to speak out against bullying and prejudice against people with Down Syndrome (Bevan, 2016).
Conclusion
Overall, Down Syndrome can seem like a scary thing when it comes to having children. But with the right resources and education about the condition, children like Keaton can live long and happy lives with the people they love. It’s important to treat people with Down Syndrome like normal people, and to not shun them- but instead help them (Centers, N.D.).
Background: Down syndrome is an extensively studied chromosomal disorder characterized by mental retardation and distinct physical manifestations, and it is the second most common cause of mental retardation in Iraqi children after idiopathic mental retardation. However, the chronic cutaneous conditions associated with the syndrome have received relatively inadequate attention. The aim of this paper is to determine chronic cutaneous disorders persisting more than six months or reoccurring over six months in Down syndrome patients
Introduction
Down syndrome (Trisomy 21) was first described by Jean-Etienne-Dominique Esquirol in 1838, and later by Edouard Séguin in 1846. However, the disorder was named after John Langdon Down, a British physician who emphasized that the syndrome is a distinct form of mental retardation in 1862. Down syndrome was recognized as a chromosome 21 trisomy by Dr Jérôme Lejeune in 1959, and the condition became known as trisomy 21 [1].
Down syndrome is an extensively studied chromosomal disorder characterized by mental retardation and distinct physical manifestations, and it is the second most common cause of mental retardation in Iraqi children However, the chronic cutaneous conditions associated with the syndrome have received relatively inadequate attention [2, 3]. The aim of this paper is to determine chronic cutaneous disorders persisting more than six months or reoccurring over six month in Down syndrome patients
Patients and methods
Twenty seven patients (17 males and 10 females) with Down syndrome were observed at the Children Teaching Hospital of Baghdad medical City and the Medical Consultation Clinic of Iraq headquarter of Copernicus Scientists international panel in Baghdad during 2018 and 2019. Their ages when they were first seen ranged from 4 months to 30 years. Thirteen patients were seen during infancy and toddlerhood. Four patients were first seen during early childhood before the age of five years. Two patients had atrial septal defect including a female infant and a boy who had secondary tricuspid regurgitation. One female infant had and evidence of hepatic hemangioma on ultrasound. One infant developed transient minor skin rash during infancy and two patients had prominent synophrys including a female infant and a boy. One four-year old boy had undescended testes.
Results
Chronic cutaneous disorders were observed in four patients of the twenty seven patients observed. Three patients including a thirteen-year old girl and two boys had alopecia areata and a man aged thirty years had familial baldness and Tinea corporis of the dorsum of the right hand.
Discussion
The association of alopecia areata which is an autoimmune disorder with Down syndrome has been suggested during the 1960s [4], and confirmed during the 1970s and 1980s [5-10].
Du and Munro (1974) studied 1000 cases (560 males and 440 females) of Down syndrome aged from 5 to 67 years with average age in males of 30 years and in females 33 years). Alopecia areata was found in 60(37 males and 23 females) cases. Du and Munro also reported that only one case of alopecia areata was found amongst 1000 subnormal controls [5]. Carter and Jegasothy (1976) reported that 19 cases of alopecia areata and four cases of vitiligo were found in 214 institutionalized patients with the Down syndrome [6]. Colomb, Vittori, and Zonca reported four Down syndrome patients who developed alopecia areata [7]. Doutre et al (1978) reported two Down syndrome patients who had alopecia areata. One patient also had Hashimoto’s thyroiditis and the second patient had vitiligo [9]. McCulloch, Ince, and Kendall-Taylor (1982) reported a 29-year-old man with Down syndrome who developed alopecia areata and aautoimmune chronic active hepatitis [10]. Hatamochi and Ueki (1984) reported the successful treatment of alopecia areata with dinitrochlorobenzene in a patient with Down syndrome [11]. Scotson (1989) reported a patient with Down syndrome and alopecia who also had mild hypothyroidism [12].
Storm (2000) from Germany reported a 9-year-old girl with Down syndrome, and alopecia areata and developed celiac disease [13]. Dourmishev et al (2000) emphasized the association of Down syndrome with various cutaneous manifestations including atopic dermatitis, alopecia areata, elastosis perforans serpiginosa, syringomas, and skin infections. Dourmishev et al reported an 8-year male patient with Down syndrome who developed alopecia areata [14]. However, a study of alopecia areata in Singapore suggested that the association with Down syndrome [15].
Schepis, Siragusa, and Happle (2017) reported the occurrence of psoriasis and alopecia areata in a Down syndrome patient [16].
Tinea corporis is also called ringworm, is a skin infection that may occur on any part of the body and typically causes a red, itchy, scaly, circular lesion. The condition is caused by various species of dermatophytes including Trichophyton and Microsporum [17]. Tinea corporis which was seen in one patient in this study has not been noticeably highlighted in the previous literature.
Conclusion
This paper highlights the association between Down syndrome and Tinea corporis which has not been noticeably emphasized in the medical literature.
References
Al-Mosawi AJ. Down syndrome Atlas. 1st ed., Saarbrücken; LAP Lambert Academic Publishing: 2018 (ISBN: 978-613-9-58120-7).
Al-Mosawi AJ. The etiology of mental retardation in Iraqi children. SunKrist Journal of Neonatology and Pediatrics.2019; 1(1):1-9.
Al-Mosawi AJ. The pattern of mental retardation in Iraqi children.1st ed., Saarbrücken; LAP Lambert Academic Publishing: 2019 (ISBN: 978-613-9-47350-2).
Wunderlich C, Braun-falco O. Mongolism and alopecia areata. Med Welt 1965 Mar 6; 10:477-81. PMID: 14276234[Article in German].
Du Vivier A, Munro DD. Alopecia areata and mongolism. Proc R Soc Med. 1974 Jun; 67(7):596-7. PMID: 4277355.
Carter DM, Jegasothy BV. Alopecia areata and Down syndrome. Arch Dermatol 1976 Oct; 112(10):1397-9. PMID: 134671.
Colomb D, Vittori F, Zonca C. Cutaneous manifestations in trisomy 21. Sem Hop 1977 Apr 9-16; 53(14-15):801-3. PMID: 194329 [Article in French].
Brown AC, Olkowski ZL, McLaren JR, Kutner MH. Alopecia areata and vitiligo associated with Down’s syndrome. Arch Dermatol. 1977 Sep; 113(9):1296. PMID: 143244.
Doutre MS, Ortonne JP, Floret D, Thivolet J. Alopecia areata and trisomy 21. About 2 cases. Ann Dermatol Venereol 1978 Jun-Jul; 105(6-7):587-90. PMID: 153723 [Article in French].
McCulloch AJ, Ince PG, Kendall-Taylor P. Autoimmune chronic active hepatitis in Down’s syndrome. J Med Genet. 1982 Jun; 19(3):232-4. PMID: 6213775.
Hatamochi A, Ueki H. Successful treatment of alopecia areata with dinitrochlorobenzene in a patient with Down’s syndrome. J Dermatol. 1984 Apr; 11(2):191-3.
Scotson J. A patient with Down’s syndrome, mild hypothyroidism and alopecia. Practitioner. 1989 Feb 8; 233(1462):121.
Storm W. Celiac disease and alopecia areata in a child with Down’s syndrome. J Intellect Disabil Res 2000 Oct; 44 (Pt 5):621-3. PMID: 11079358. PMID: 11138359.
Dourmishev A, Miteva L, Mitev V, Pramatarov K, Schwartz RA. Cutaneous aspects of Down syndrome. Cutis 2000 Dec; 66(6):420-4.
Tan E, Tay YK, Giam YC. A clinical study of childhood alopecia areata in Singapore. Pediatr Dermatol 2002 Jul-Aug; 19(4):298-301. PMID: 12220271.
Schepis C, Siragusa M, Happle R. Psoriasis and alopecia areata in a Down syndrome patient: a Renbök phenomenon. Eur J Dermatol 2017 Jun 1; 27(3):300-301. PMID: 28251896.
Antuori A, Fernández G, Fernández A, Alcaide M, Boada A, Bielsa MI, Romaní N, Matas L. Epidemiology of dermatophytic infections between 2008 and 2017 in Barcelona, Spain. Enferm Infecc Microbiol Clin. 2019 Dec; 37(10):642-647. PMID: 31076176.
Down syndrome (DS) is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. This extra genetic material is the cause of the developmental changes and physical features associated with DS (Mayo Clinic Staff, 2018). There are 3 different types of DS; Trisomy 21 accounts for 95% of people who have DS and is a result of three copies of chromosome 21, instead of two. The other two rare types are translocation, resulting from when part of chromosome 21 attaches itself to another chromosome (usually 14), and mosaicism, occurring when some cells during cell division end up having 3 copies of chromosome 21 instead of two (CDSS, 2018).
Approximately 1 in 750 live born babies in Canada have DS, making it the most frequently occurring genetic chromosomal disorder in Canada, and one of the most common worldwide (Public Health Agency of Canada, 2017). Due to the well-defined physical characteristics associated with DS, including a small chin, slanted eyes, a flat nasal bridge, and a large tongue, most infants with DS are identified at birth, which can later be confirmed with chromosomal analysis (Down Syndrome Education International, 2018). Intellectual and developmental delays are common amongst children with DS, which also puts them at an increased risk of developing several medical conditions. According to the Public Health Agency of Canada, the most reported cause of death in children and young adults with DS are congenital heart defects and respiratory infections.
It is important to note that there are no known environmental or behavioral factors that cause DS, despite experts investigating potential links (Mayo Clinic Staff, 2018). Older mothers (over the age of 35), have a greater chance of giving birth to a child with DS because older eggs have a greater risk of improper cell division, although children with DS are born to parents of all ages, social, racial and economic backgrounds (Down Syndrome Education International, 2018). In unlikely cases (3-4%), both men and women can pass the genetic translocation for DS to their children, putting these couples at higher risk. Parents who have one child with DS have an increased risk of having another child with DS. In these instances, a genetic counselor can be helpful in accessing the risk of having a second child with DS (Mayo Clinic Staff, 2018).
Early research on families of children with DS reflected an automatic assumption to suffer because of the child (Cunningham, 1996). For parents, behavioral problems in the child with DS was the most significant factor contributing to negative stress (Cunningham, 1996). Cunningham states that lower mental ability, repeated infections, and health problems in childhood years were also more common amongst children with behavioral problems. Lack of resources was also linked to family well-being, showing that inadequate housing, financial problems, and lack of access to a car was associated with high parental stress levels and poorer family relationships between parents and their child with DS (Cunningham, 1996). It cannot, however, be assumed that the family or individual members of such are ‘at risk’ for psychological problems based solely on a child having DS. It was found that majority of families (~70%) had adapted positively to their child with DS and were more likely to feel the child had positively contributed to the family (Cunningham, 1996).
The perception remains that infants born with DS are still not openly accepted by society, and sometimes parents. This lack of acceptance creates numerous complex ethical challenges in treating babies diagnosed with DS. Studies argue that health professionals are responsible in making public attitudes more accepting of DS and should encourage social and community involvement of children with DS. Understanding attitudes of the public toward individuals with DS is crucial because negative attitudes can create barriers to social integration, which can consequently impact overall quality of life (Cuskelly, Hauser-Cram, & Van Riper, 2008).
Unfavorable attitudes were held by many youth with 30% stating that students with DS should go to separate schools, 27% agreed that they were not willing to work with a student with DS on as school project, and nearly 40% indicated they would not be willing to spend time with a student with DS outside of school (Petty & Sadler, 1996). Attitudes and beliefs are undoubtedly slow to change, and children with DS may still be categorized by a set of stereotypes that are related to outdated information and approaches. In a study on integration of children with DS in mainstream schooling, there was a 100% consensus from educators regarding the need to improve the standard of integration of these children into mainstream primary classes (Petty & Sadler, 1996).
On the other hand, there have been numerous studies focusing on the protective factors associated with DS. Evidence shows that around 70% of families who have a child with DS function like families who do not have a child with DS, and when compared to families without a presence of DS, parents did not show elevated levels of stress (Cunningham, 1996). Additionally, couples who have a child with DS sit well below the national average of divorce rates (Cuskelly, Hauser-Cram, & Van Riper, 2008). When surveyed, the consensus amongst couples who had children with DS felt that there were no disadvantages to having a child with DS. In fact, in most cases it was reported that it had changed their lives for the better and felt that they were less materialistic and self-centered (Cuskelly, Hauser-Cram, & Van Riper, 2008).
Early intervention is another approach aimed at improving child development outcomes. The Canadian Down Syndrome Society (CDSS) provides a variety of educational documents for expecting parents and the local support resources available across the country to support families who are expecting/have a child with DS. Specifically, the CDSS ‘New Parent Package’, contains numerous letters from parents of children with Down syndrome, their personal struggles, victories, and health complications to be aware of.
People with Down syndrome may face unique health complications beyond typical illnesses. Although no individual with Down syndrome will have all potential health complications, every child needs good preventative medical care. Teamwork and communication between the family and doctors is necessary to limit potential problems, and provide specialized individual treatments throughout their life, should they occur. Because no case of DS is the same, the Down Syndrome Medical Interest Group has published a set of guidelines suggested to be followed to ensure optimal health and development of a child with DS. The document includes information on the usual development of children with DS. By understanding and following what is normal for a child with DS makes it easier to recognize any additional problems at an early stage (DSMIG, 2011). The document contains information on timeframes of developmental milestones, associated health risks/problems, immunizations, a suggested schedule of health checks, sources for help and advice, and height + weight charts designed specifically for infants/children with Down syndrome.
Having a set of guidelines that is given to every couple/parent that has a child with DS is very important in maintaining healthy development for the child throughout their lifespan. These guidelines, however, are not compulsory to be followed, which could lead to undiagnosed health problems and reduced quality of life for children with DS if the guidelines are ignored. As previously mentioned, communication between the family and doctors caring for a child with DS is extremely important. To achieve the most favorable outcomes, these guidelines should mandatory for all families to follow. Since DS is the most common chromosomal abnormality in the country, there should also more awareness of the condition amongst doctors and the medical community.
The effectiveness of these guidelines were evaluated for Canada in a 2007 study with the results showing the guidelines on physical examinations and medical referrals were being followed in the 5-12-year old age group, but dropped below 50% in those 19 and older (Virji-Babul et al, 2007). In the 1-4-year old category, referrals for screening of celiac disease and hearing tests were reported to have occurred in less than 30% of those with DS. This is alarming, as rates of both problems are over double in children with DS compared to children without. Many of the recommendations regarding behavioral problems, transition planning, diet, exercise and issues on sexual health were followed sporadically in all age groups (Virji-Babul et al, 2007). This evidence presents a cause for concern for further research on the level of familiarity with the DSMIG guidelines among pediatricians and family physicians.
Personally, I think the associated stigma and and lack of education the general public has on DS puts society at an immense disadvantage. Few to many people realize that if given the opportunity people with DS can actively contribute to society. Today, people with DS can go to school, finish university, find careers, and get married, just like those without DS. Working at L’Arche, I have had a range of experiences interacting with those with DS. As a society, I think we need to be more inclined to see the ability of those with DS and realize that it is not something to be afraid of. Through my experiences I’ve learned that those with DS can do everything I can do, sometimes in different ways, but it is important to acknowledge that different does not mean bad.
With reports claiming to be on the verge of ‘eradicating’ DS, it is important to look at the root cause, why? For many, it’s about quality of life; parents sadly believe that a baby with DS translates into an unfulfilled or bad life. However, in 2011, Harvard-trained physician Brian Skoto published a study that reveled people with DS have a very high level of satisfaction in their lives and are generally very happy. Similarly, family members of people with DS also ranked high in levels of personal fulfillment (Skotko). Personally, I’ve seen that people with DS are not just happy but make their peers and family members happy as well.
To reiterate, we need to change the way we speak about DS. If we stop associating the word ‘disease’ with DS there would be no reason to accompany breaking the news to new parents with the phrase, ‘I’m sorry’, or research into aborting all babies predisposed to the condition. For Canada, to better address DS, there should be integration policies in place so that children with DS can become actively involved in their communities, grow their social networks, and expose people without DS and inadequate knowledge on the condition to the wide range of abilities of those with DS have to offer.
References
CDSS. (2018). About Canadian Down Syndrome Society (CDSS). (C. D. Society, Producer) Retrieved November 12, 2018, from cdss.ca: https://cdss.ca/
Cunningham, C. C. (1996). Families of children with Down syndrome. School of Health, 4(3), pp. 87-95.
Cuskelly, M., Hauser-Cram, P., & Van Riper, M. (2008). Families of children with Down syndrome:What we know and what we need to know. Down Syndrome Research and Practice, pp. 105-113. Retrieved November 16, 2018, from https://library.down-syndrome.org/en-us/research-practice/online/2008/families-down-syndrome-what-need/?_ga=2.129041871.2103427367.1542582812-1062419210.1542582812
Down Syndrome Education International. (2018). About Down syndrome. Retrieved November 12, 2018, from down-syndrome.org: https://www.down-syndrome.org/en-gb/about-down-syndrome/
DSMIG. (2011). PCHR insert for babies born with Down syndrome. pp. 1-29. Retrieved November 16, 2018, from www.dsmig.org: http://www.healthforallchildren.com/wp-content/uploads/2013/04/A5-Downs-Instrucs-chartsfull-copy.pdf
Mayo Clinic Staff. (2018). Down Syndrome. (J. L. Hoecker, Ed.) Retrieved November 12, 2018, from mayoclinic.org: https://www.mayoclinic.org/diseases-conditions/down-syndrome/symptoms-causes/syc-20355977
Petty, H., & Sadler, J. (1996). The integration of children with Down syndrome in mainstream schools: Teachers’ knowledge, needs, attitudes and expectations. 4(1), pp. 16-24. Retrieved November 12, 2018, from https://assets.cdn.down-syndrome.org/pubs/a/reports-59.pdf?_ga=2.137023280.1063582956.1542160295-981616062.1541634810
Public Health Agency of Canada. (2017). Down Syndrome Surveillance in Canada 2005-2013. Healthy Living. Government of Canada . Retrieved November 16, 2018, from https://www.canada.ca/en/public-health/services/publications/healthy-living/down-syndrome-surveillance-2005-2013.html
Skotko, B. (2011). Self-perceptions from people with Down syndrome. Retrieved November 16, 2018, from https://www.ncbi.nlm.nih.gov/pubmed/21910246
Virji-Babul et al, N. (2007). Use of health care guidelines in patients with Down syndrome by family physicians across Canada. Peadiatrics & Children’s Health, 12(3), 179-183.
This paper explores seven published articles that report on the psychological and sociological impact of Down syndrome for the individual and their family. Parents discuss the many familial effects of having a child born with Down syndrome. Most parents report having a child with Down syndrome as a positive experience while other parents report having a negative experience. Included in this paper are two studies, one conducted by Janet Carr of St George’s Hospital in London, UK, and the second by Skotko, Levine, & Goldstein about the advantages and disadvantages of raising a child with Down syndrome. Although many individuals living with Down syndrome have made great strides in life, there are still many challenges they will endure daily.
Down syndrome is a chromosomal condition that occurs in approximately 1 in every 700 pregnancies. The chromosomal condition occurs when an error in the cell division results in a full or partial extra copy of chromosome 21. The additional gene affects the individual’s physical features, intellect, overall development and causes distinctive characteristics associated with an individual with Down syndrome. The common physical characteristic of Down syndrome is low muscle tone, a flat nasal bridge, short neck, upward slanted eyes, short stature, small ears, wide space between eyes, and protruding tongue. Developmental delays are common characteristics such as speech delays, difficulty thinking and understanding, and intellectual disabilities. Conditions and disorders commonly associated with Down syndrome are hearing loss, hypothyroidism, immune disorders, leukemia, dementia, blood disorders, gastrointestinal defects, and obesity.
The cause of Down syndrome is still unknown. There is no definitive scientific research that indicates how Down syndrome is caused. The only factor that has been linked to Down syndrome is the mother’s maternal age. Women older than 35 years old are more likely to give birth to an infant with Down syndrome.
People with Down syndrome have a wide variety of capabilities. Children born with Down syndrome can usually do the same things as any other child such as walk, talk, potty train, and dress themselves. The only differences between children born with Down syndrome are they accomplish these functional tasks at a later age than other children. Early interventions such as physical therapy, occupational therapy, and speech therapy are best to help a child reach their full potential of development.
The outlook for adults living with Down syndrome has changed dramatically over the last decades. In the 1900s, individuals with Down syndrome weren’t expected to live past 1o years, now many are living well into their 50s and 60s. This change in life expectancy has allowed people with Down syndrome to have a more active adult social life that includes dating and eventually marriage. People with Down syndrome rarely have children due to a reduced fertility rate. Most men with Down syndrome cannot conceive any children and the women have a 1 in 2 chance of conceiving. Unfortunately, if the woman does conceive the pregnancy will most likely end in a miscarriage.
A common misconception about people who have Down syndrome is that they are always happy. The reality is, individuals with Down syndrome are more like everyone else than they are different. Everyone has different feelings and moods, and just like the general public, adults with Down syndrome must have adaptive life skills, work skills, and educational and social opportunities. It was believed many years ago that individuals with Down syndrome would not be able to work and live independently. Now many individuals with Down syndrome are employed and have independence with little assistance from family or that state. Even though individuals with Down syndrome have made great strides there still are many challenges they still endure daily. Living with Down syndrome not only affects the individual personally, but it also affects the daily lives of their family and friends.
When expecting parents first learn their unborn child is diagnosed with Down syndrome, it can be devastating news. Some couples are plagued by the life-changing decision on whether to continue or terminate the pregnancy. In the study Having a Son or Daughter with Down Syndrome conducted by Brian G. Skotko, Susan P. Levine, and Richard Goldstein (2011), the majority of parents surveyed reported being happy the chose not to terminate their pregnancy and expressed pride and unconditional love for their child (Skotko, Levine, & Goldstein, 2011). Parents also report feeling their outlook on life is more positive because their son or daughter has Down syndrome and report being comfortable with answering questions that pertain to their child’s disorder (Skotko, Levine, & Goldstein, 2011). Many parents described learning patience, acceptance, and unconditional love. While some parents have become advocates for their children by fighting for their rights and being their voice box.
A small percentage of parents report having a more negative experience, feeling like life isn’t fair and daily life is miserable. When it comes to the parent’s social life, some parents feel most of their friends will either disappear or pretend to be nice to their child while harboring prejudice and bias feelings. Some parents reported feeling embarrassed their child has Down syndrome and regret not terminating the pregnancy in utero. Stating having a child with Down syndrome will exhaust you, challenge you, a subject you to discrimination. The stress of having a child with Down syndrome has also been attributed to causing marital stress and divorce, but contrary to belief, statistics show lower divorce rates for couples who have a child with Down syndrome compared to couples with a non-disabled child. This fact is attributed to the parents being older, more educated, and married before having children.
Studies have shown the positive impacts of having a sibling with Down Syndrome. Growing up with a sibling who has Down syndrome can present unique challenges and opportunities for growth and character development. Siblings tend to be helpful and empathetic due to their awareness of the difficulties their sibling may have to face. Parents frequently note that the non-disabled siblings tend to have a high tolerance of acceptance when they have a sibling with Down syndrome. Siblings develop patience at a young age and learn how to simplify tasks into smaller units. There is also is an appreciation for one’s own life. The non-disabled siblings often learn early on to appreciate their health and abilities and not to take the simplest things for granted. Although most siblings have a positive experience with having a brother or sister with Down syndrome, studies have shown some siblings face a lot of challenges and some disadvantages.
The more challenging or negative impacts on siblings can vary from parental neglect to peer acceptance. Children with Down syndrome need a lot of care physically, emotionally, and financially. Parents may often have less time and energy for the other children which could lead to anger and resentment. Siblings are often frustrated with excessive rules and restrictions such as keeping doors locked and closed, keeping small items out of arms reach, and any other rules due to having a sibling with Down syndrome. The financial cost for a child with Down syndrome can be high, resulting in the other siblings going without. Parents may not be able to afford educational expenses, recreational activities, holidays, and material goods. Many brothers and sisters have a hard time coping with the emotional challenges that come with having a sibling with Down syndrome. The siblings may not have friends over to their house due to misunderstandings, biases, and insults toward their sibling with Down syndrome. Ultimately, the lack of peer and adolescent norms can often lead to siblings mourning the loss of not having a “normal” sibling relationship.
A study conducted by Janet Carr focused on the wellbeing of the parents and siblings, and focused on their health, social life and friendships. Data was collected from groups of families who had a member with Down syndrome and a control group of non-disabled family members. Each group was followed from infancy to age 40. Participants were the families of 34 surviving 40-year-olds with Down syndrome, of whom 21 had at least 1 parent, 7 fathers, and 18 mothers still living (Carr, 2008). There were sixteen families in the control group, 14 fathers and 14 mothers were still in the study. Earlier in the study, mothers were asked to rate their own health. Two-thirds of those in the Down syndrome group and half the control group stated their overall health was good with the minority saying it was poor. The Down syndrome group had 5% of the mothers feeling run down, 29% depressed, 17% felt both, and 67% felt neither. The control group had 7% of the mothers feeling run down, 7% depressed, 29% felt both, and 57% felt neither.
The mothers were asked about their social life, friendships, and how often they went out on their own. When surveyed on how often the mothers went out 1 or more times a month, mothers of the Down syndrome group went out 23% of the time accompanied, 50% alone, and 60% to clubs. Mothers of the control group had 58% accompanied, 50% alone, and 55% to clubs. When surveyed if they would like to go out more often, 35 % of the Down syndrome group and 20% of the control group said yes.
The mothers were surveyed on outside friendships and the results revealed 42% of the Down syndrome group had none to a few friends with 26% having many friends. The control group revealed 53% had none to a few friends with 40% having many friends.
Data on the fathers and siblings were provided from information supplied by the mothers. The findings showed the fathers and siblings to be well adjusted and without strain. The brother and sisters have continued into adulthood with good relationships with their sibling with Down syndrome, averaging more contact with them compared to the control group siblings. The mothers who reported being less social and having zero to a few friends scored higher stress scores than the more social mothers.
In conclusion, the impression of families with a child who has Down syndrome is one of normality. Factors that influence the wellbeing of the families and siblings of a person with Down syndrome are largely the same as those that influence any other family. It should not be assumed that family members are at risk of psychological issues due to the single fact one member has Down syndrome. Most research has found many of the families to be satisfied with life with relatively normal levels of stress contrary to the minority whose experiences were negative. Overall, the majority of families expressed feeling the child contributed positively to the family.
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