The Down Syndrome - Coursework Example

Down Syndrome Name Course Name and Code Instructor’s Name Date Abstract Down syndrome has been around since its discovery in the mid 19th century. It is a genetic disorder that is caused by extra material in chromosome 21. This disorder was discovered by an English Physician John Langdon Down described a group of children with common behavioural traits that significantly differed with other children as having mental retardation. People suffering from this disorder were initially referred to as mongoloids; associated to the Mongolian race. With advances in science and medicine, the disorder was dissociated from he Mongolian race after the discovery that it was caused by an extra material in chromosome 21and hence it was named Down syndrome. The cure to this condition has not yet been discovered; however, people suffering from this condition can be rehabilitated using different therapies and can hence lead their lives without relying from the help of others. Similarly, different experts across the world are working day and night to come up with a cure to the Down syndrome condition. Table of Contents Abstract 2 Table of Contents 3 Introduction 4 Background 5 Objectives 5 History of Down syndrome 5 Characteristics and Features of Down syndrome patients 7 Definitive Diagnosis 8 Treatment and Rehabilitation 8 Symptoms 9 Description of Rehab Evaluation 10 Common rehab interventions 10 Cure Researches 11 Conclusion 14 References 14 Introduction Down syndrome is a genetic disorder that is caused by extra material in chromosome 21 that results into intellectual disability. It is a set of mental and physical symptoms that result from having an extra copy of chromosome 21. Sometimes, it is referred to as a set of physical, mental, and behavioural characteristics that result from a specific genetic abnormality (Leshin, 2003) Information as to how this occurs is yet to be established. According to the World Down Syndrome Day, it is estimated that incidence of Down syndrome is between 1 in 1,000 to 1 in 1,100 births globally. In this regard, there are approximately 3,000 to 5,000 children born with condition annually (News Medical, 2013). The quality of life of individuals living with Down syndrome can only be met by ensuring their health needs including regular medical check-ups to monitor their physical and mental conditions in order to timely provide the needed physiotherapy, speech therapy, and counselling or special education (Selikowitz, 2008). These individuals are only able to meet their optimal quality of life through excellent parental care and support, medical guidance together with community-based support systems such as inclusive education at all levels (News Medical, 2013). Ultimately, this will facilitate them to take part in mainstream society and hence fulfilling their personal potentials (Leshin, 2003). This paper is inclined to bring to light the background of Down syndrome, investigate the availability of treatment and rehabilitation for individuals suffering from Down syndrome, and lastly, the paper will discuss the researches that have been conducted in effort to come up with the cure of this disorder. Background Down syndrome is a disease caused by genetic disorder. Through extensive that took more than a century, it was discovered that the disease is as a result of extra material in chromosome 21. The disorder was first discovered in the mid 19th century by an English Physician John Langdon Down, who associated the disease with the Mongolian race. However, in 1960s through scientific evidence, it was established that the condition was caused by extra material in chromosome 21. Objectives To find out the history of Down syndrome disease Determine the quality of life treatment and rehabs for Down syndrome disease To investigate the researches of cure to Down syndrome History of Down syndrome The origin of this genetic condition, ‘Down syndrome’ dates back to the mid 19th century when an English Physician John Langdon Down described a group of children with common behavioural traits that significantly differed with other children as having mental retardation (Medicine Net, 2011). Given the fact that these children with mental retardation shared physical traits that resembled with those of Blumenbach’s race of Mongolia, they were referred to as mongoloids; however, this term was later changed to Down syndrome (Guralnick, 2002). The attitudes with regard to Down syndrome were mostly associated with racism as explained above. Down syndrome became widely recognized in the 20th century as a form of mental disability. Individuals with this condition were institutionalized and some of other medical complications associated with Down syndrome were treated (Prasher, 2009). Notwithstanding this, most of individuals born with this mental disability died in infancy or during their early adult life. The rise of eugenics movement among different US states and other countries initiated programs of forced sterilization of individuals with Down syndrome together with comparable degrees of disability. This practice was significantly exhibited in public policies like the “Action T4” in Nazi Germany; this was a systematic murder program (Guralnick, 2002). This led to extensive public revolutions, scientific advances in medicine, and numerous court challenges that resulted into the stoppage and discontinuation of these sterilization programs immediately a few decades after the World War II. Until the middle of the 20th century, not much had been discovered as to what is the exact cause of Down syndrome (Couwenhoven, 2007). Despite of this fact, it had been established the Downs syndrome is no longer a specific race disability, had a close relationship with old age, and the rarity of its recurrence had also been noticed. In some instances, some medical experts assumed that Down syndrome was as a result of ac combination of heritable factors that had not yet been identified, while other medical theories focused on injuries sustained during birth. Due to the discovery of karyo type techniques in the 1950s, advances with regard to what is the cause of Down syndrome were made; for instance, it was significantly possible to identify the abnormalities of chromosomal number or shape (Couwenhoven, 2007). Equally important, in 1959, Jerome Lejeune established that Down syndrome was as a result of an extra chromosome, which was then labelled chromosome 21 and thus the condition trisomy 21. Similarly, it was discovered that, Down syndrome is caused when an embryo has three copies of chromosome 21 instead of two, this supplemental chromosome 21 changes the embryo’s development thus culminating into characteristics associated with Down syndrome (Dierssen & de la Torre, 2012). In 1961, experts in genetics came to a reality mental retardation was caused by extra materials in chromosome 21 and the Mongolian idiocy was misleading and an embarrassing term which resulted into their support for Down syndrome as an official name of the condition. Accordingly, with regard to this discovery, The World Health Organization (WHO) dropped the term mongoloids and adopted Down syndrome (Dierssen & de la Torre, 2012). Characteristics and Features of Down syndrome patients Some of the characteristics of individuals suffering from Down syndrome are: Flattened face and nose Short neck and poor muscle tone Small mouth sometimes with a large tongue Small ears and short fingers Upward eyes that have small skin folds at the inner corner White spots in the iris (News Medical, 2013) These individuals are also susceptible to heart defects, hearing problems, Alzheimer’s disease, leukaemia and Thyroid conditions (News Medical, 2013). They have cognitive delays and difficulties in developing basic language skills, motor skills, and learning abilities such as memory and concentration problems. In the same line of argument, they have difficulties in solving problems and comprehension of consequences of their actions (Iarocci & Babul, 2006) Children with Down syndrome experience limited peer involvement and also have difficulties socializing with their peers (Dykens, 2007). They have fewer peer contacts and hence they engage in few activities with other children. It has also been established by Guralnick (2002) that, these children have a tendency of exhibiting problematic behaviours like stubbornness, inattention, difficulties in concentrating, attention seeking and impulsivity. These can be summed up as; children with Down syndrome have difficulties in interacting with each other and display abnormal behaviour and significant impairment when disturbed. Definitive Diagnosis Due to advancement in medicine, Down syndrome can be diagnosed before birth through screening or diagnostic tests (Medline Plus, 2011). Although screening is significant in determining the danger that the infant might have Down syndrome, it is not an ultimate measure. On the other hand, diagnostic tests are always 99% accurate, however, it is extremely risky as they are performed on samples extracted from inside the uterus, which might lead to miscarriage or escalate the complications (Medline Plus, 2011). Nonetheless, Down syndrome is normally recognized at birth since the characteristics of facial features together with other physical indicators can easily be observed by a naked eye. Treatment and Rehabilitation The establishment from above declares that Down syndrome is also called Trisomy 21 and is caused by a genetic problem that occurs before birth. This condition affects the manner in which the brain and body develops (Iarocci, et al, 2006). Children suffering from Down syndrome have distinct features, intellectual disability and also it increases the chances of one having numerous medical problems. Accordingly, the severity of Down syndrome widely varies from child to child since it is a lifelong disability. However, when these individuals are subjected to proper care and support they have the ability to grow up as healthy, happy and productive persons (Iarocci, et al, 2006). Symptoms Distinct facial features like flat facial profile, an upward slant of the eyes, small ears, small mouth and protruding tongue (Medicine Net, 2011) A short neck and short limbs Upper neck abnormalities Low muscle tone resulting in weak muscles and loose joints Below average intelligence Slow growth and development as compared to other normal children Approximately half of children suffering from Down syndrome have congenital heart defects All have high probability of developing pulmonary hypertension, which can result into lung damage (Dykens, 2007). Approximately half of Down syndrome children have hearing lose and/or vision problems and have higher chance being affected by cataracts Some may have intestinal abnormalities, thyroid problems, seizure disorders, obesity, respiratory problems, increased susceptibility to infections with a high-risk f childhood leukaemia (Dykens, 2007). Crucially important, children with Down syndrome have behavioural problems like oppositional defiant disorder and autism. These conditions can culminate into increased difficulties with socialization skills in life (Dykens, 2007). Description of Rehab Evaluation Children with Down syndrome are always referred to paediatric therapist who reviews the child’s medical history. Accordingly, the physical therapist will determine the child’s balance, strength, movement, and the ability to walk and move around (Randal & Rasore-Quartino, 2007). On the other hand, the occupational therapist will evaluate the child’s capacities to care for him/her self. In this regard, the occupational therapist will seek to know if the child is able to feed, dress, bath, brush the teeth, comb the hair and take care of his/her toilet need on him/her self. Similarly, they will seek to know if the child actively participates in their homes, play, and do school related activities or learning (Intermountain Healthcare, 2013). Equally important, a speech-language pathologist will determine the child’s communication skills together with the ability to comprehend language and speak so that other can understand him/her. After these therapies, the therapist will discuss the results of their evaluation and come up with a working plan that will best meet the needs of the child under investigation. Common rehab interventions First, the physical therapist will work to ensure that weak muscles are strengthened; improve the child’s balance, coordination and posture. In this regard, the therapist will engage parents and caregivers on the exercises and activities essential for the child to practice at home to ensure his physical growth and health are enhanced. The occupational therapist on his behalf, will work to help the child to accomplish his/her daily activities on his/her own (Intermountain Healthcare, 2013). These activities include eating and feeding themselves, using their hands, hand-eye coordination to manage fastenings on clothing, colouring, writing, and other duties like with scissors. If the child has a sensory concern, attention issues, and/or behavioural disorders, then he/she may learn activities that will improve attention and focus, manage anger, and/or acquire social skills. For instance, the Occupational therapist will determine whether he child may need specialized equipments in order for him/her to gain independence in his/her everyday life (WebMD, 2013). These may include pencil grips and wheelchair. The speech therapist will work to help the child to learn how to speak. Children suffering from Down syndrome learn to speak later in life. This is mainly because of the structural abnormalities of the mouth or the tongue that usually make it difficult for them to talk. The speech therapist will help the child to learn speech and language skills like making sentences and speaking clearly. Accordingly, a speech therapist can teach sign language that will enhance his/her ability to communicate (Intermountain Healthcare, 2013). Cure Researches Currently, there are various researches underway with a singular objective of finding the cure to Down syndrome. Genetic engineers and medical engineering as a whole are faced a puzzle that they determined to make sure it is solved. Universities and Medical labs across the world are working unendingly to come up with the cure to this disability that wrecked the world for decades. According to Human Molecular Genetics (2013), Down syndrome is caused by trisomy of chromosome 21 (Hsa21) which is associated with numerous deleterious phenotypes that include learning disability, heart defects, early-onset Alzheimer’s disease and childhood leukaemia. They also established that Down syndrome individuals are affected by the said phenotypes at different levels. In this regard, understanding the cause of these variations is vital in finding the cure to Down syndrome (Human Molecular Genetics, 2013). The research progress in Down syndrome in this essence is viewed in terms of both human patients and relevant animal models. Under this research, the researcher’s main objective is to improve the cognitive functions of people suffering from Down syndrome and understanding the gene content of Hsa21 (Selikowitz, 2008). For this matter, the research recommends for use of chromosome engineering to generate new trisomic mouse models and large-scale studies of genotype-phenotype relationship. This will vastly contribute to the understanding of Down syndrome and thus coming up with its cure. According to Stamford School of Medicine (2013), improved learning and memory of individual suffering from Down syndrome can be improved by injecting them with formoterol; a long-acting β2 adrenergic receptor agonist. The formoterol at lower doses is an approved treatment for asthma together with chronic obstructive pulmonary disease (COPD). In the Biological Psychiatry issue of 2013, reported that Salehi Laboratory showed that the Ts65Dn mouse model of Down syndrome exhibited improvement in learning and memory after injections with formoterol, a long-acting adrenergic receptor agonist (Stanford School of Medicine, 2013). However, the formoterol that was used in the research cannot be safely administered to humans without potentially risking the respiratory side effects. Although not yet a cure, these results is a promise for potential new classes of drugs that target this receptor, which is key in addressing this intellectual disability in Down syndrome (Stanford School of Medicine, 2013). Similarly, BBC News Health reported that “US scientist say they have moved a step closer to being able to treat disorders caused by an extra chromosome” (Briggs, 2013). For instance, the report also indicated that the scientists were able to switch off the chromosome that causes the symptoms of Down syndrome in human cells in the lab (Briggs, 2013). In this research it was also determined that normal human beings are borne with 23 pairs of chromosomes including two sex chromosomes thus adding up to 46 chromosomes in one cell. Individual with Down syndrome have three instead of two copies of chromosome 21. This situation results into symptoms such as learning disabilities and early Onset-Alzheimer’s disease together with high probabilities of blood disorders (Briggs, 2013). The gene therapy, a standard treatment for gene diseases has been used to solve problems caused by a single defective gene. However, until recently this idea was unable to yield any significant results of silencing the effects of a whole chromosome. Scientist at the University of Massachusetts Medical School that, theoretically, the idea is possible, however it will take some decades before a practical solution is realized (Briggs, 2013). Despite of this assumption, they conducted study by inserting a gene called the XIST into the stem cells of an individual with Down syndrome in the lab (Briggs, 2013). The XIST gene plays a role in the normal cell development by switching off one of the two X chromosomes present in the female embryos thus ensuring that daughters avoid a double dose of X chromosome genes. The exciting research established that the gene XIST gene was able to silence the extra copy of chromosome 21 and hence helping in correction of the abnormal growth patterns in the cells (Briggs, 2013). This was a great promise towards realizing the cure of Down syndrome. Conclusion The discussion above has established that Down syndrome is a genetic disorder that is caused by extra material in chromosome 21 that results into intellectual disability. This disorder was first discovered in the mid 19th century where individual with Down syndrome were referred to as Mongoloids as the condition had been associated to the Mongolian race. With regard to comprehensive studied with on Down syndrome, it was discovered that the condition was caused by an extra chromosome 21. In 1965, Down syndrome was accepted by the WHO as the official name of the disability (Welsh, 2006). Individuals with Down syndrome can be helped to lead a normal life through rehabilitation treatment; for instance, there are specialists trained in this field including the physical, occupational, speech and language therapists that can assist these people to lead a life on their own without necessarily depending on others. Significantly important, various studies have been and still are being conducted in order to come with a cure to this menace. References Briggs, H. (2013) BBC News Health: Genetic Advance in Down’s syndrome. Retrieved on 11/08/2013, from; http://www.bbc.co.uk/news/health-23340924 Couwenhoven, T. (2007) Teaching children with Down syndrome about their babies, their boundaries and sexuality: A guide for parents and professionals. Sydney: Woodbine House Dierssen, M. and de la Torre, F (2012) Down Syndrome: From Understanding the Neurobiology to Therapy. Oxford: Elsevier. Dykens, E. M (2007). Psychiatric and behavioural disorder in persons with Down syndrome. Mental Retardation and Development Disabilities, vol. 13, pp. 272-278 Gogia, P. and Rastogi, N. (2009) Clinical Alzheimer Rehabilitation. Manchester: Springer, 56 Guralnick, M. J. (2002). Involvement with peers: Comparisons between young children with and without Down’s syndrome. Journal of Intellectual Disability Research, vol. 45, no. 5, pp. 379-393 Human Molecular Genetics (2013). Down syndrome – recent progress and future prospects. Oxford Journals. Retrieved on 11/08/203, from; http://hmg.oxfordjournals.org/content/18/R1/R75.full Iarocci, G. Reebye, P. and Virji-Babul, N. (2006). The Learn at Play Program (LAPP): Merging family, developmental research, early invention, and policy goals for children with Down syndrome. Journal of Policy and Practice in Intellectual Disabilities, vol. 3, no. 1, pp. 11-21. Intermountain Healthcare. (2013). Paediatric Rehabilitation Services: Down syndrome. Retrieved on 11/08/2013, from; http://intermountainhealthcare.org/services/pediatricrehab/symptoms-conditions/Pages/down-syndrome.aspx Leshin, L. (2003). Trisomy 21: The story of Down syndrome. Retrieved on 11/08/2013, from; http://www.ds-health.com Medicine Net. (2011).What are the characteristic features and symptoms of Down syndrome? Retrieved on 11/08/2013, from; http://www.medicinenet.com/down syndrome/page 3.htm Medline Plus. (2011). Down syndrome. Retrieve on 11/08/2013, from; http://www.nlm.nih.gov/medlineplus/downsyndrome.html News Medical (2013) Down Syndrome History. Retrieved on 10/08/2013, from; http://www.news-medical.net/health/Down-Syndrome-History.aspx Prasher, V. P. (2009) Neuropsychological Assessments of Dementia in Down Syndrome and Intellectual Disability. New York: Springer. 68 Randal, J. A. and Rasore-Quartino, A. (2007). Therapies and Rehabilitation in Down Syndrome. New York: John Willey and sons Selikowitz, M. (2008). Down Syndrome. London: Oxford University Press Stanford School of Medicine. (2013). Down Syndrome Research Center. Research update: new therapeutic target. Retrieved on 11/08/2013, from; http://dsresearch.stanford.edu/community/ Stokes, M. (2004). Physical Management in Neurological Rehabilitation. Wales: Elsevier Health Sciences. 538 WebMD. (2013). Children’s Health: Understanding Down Syndrome – Diagnosis and Treatment. Retrieved on 11/08/2013, from; http://children.webmd.com/understanding-down-syndrome-treatment Welsh, M. E. (2006) Trends in Alzheimer’s Disease Research. New York: Nova Publishers. 121 Read More