Facts about Down Syndrome - Literature review Example

Down Syndrome Introduction Down Syndrome is a disorder in human chromosome due to an error that occur during cell division which result to a person having an extra portion or entire 21st chromosome (Grant, Goward, Ramcharan & Richardson, 2010). This condition results to impairments in physical growth and cognitive ability that range from mild to moderate developmental disabilities (NMT, 2009). A person with Down Syndrome is easily identified for he or she has a particular facial features and if the person is a young adult he or she may have an IQ of as low as 50 and this explains why children with Down Syndrome have a serious intellectual disability (Grant, Goward, Ramcharan & Richardson, 2010). According to NIH a normal person is supposed to have 23 chromosome pairs (2012). But there are instances in which an individual may have an extra copy of chromosome 21 making the total number of the chromosome to be 47. This abnormality contributes to change in the brain’s and body’s normal development (Roizen & Patterson, 2003). John Langdon Down, a British physician, described the condition in 1866 and as a result the syndrome was named after him. Edouard Seguin and Jean Esquirol had clinically described the condition in 1844 and 1838 respectively and it was not until 1959 when Jerome Lejeune identified Down Syndrome as a chromosomal disorder. In this paper causation, characteristics, health management needs, home, recreational /vocational /educational issues, future prospects and support implication of individuals with Down Syndrome are discussed. Causation According to NMT, the occurrence of Down Syndrome is influenced by an abnormality in the 21st chromosome (2009). This abnormality is characterized by presence of a replica genetic material on part or the entire 21st chromosome. Any cell in the human body has genes which are located along the chromosomes situated in the center of the cell. Every cell should contain 46 chromosomes where half of them are inherited from the father while the other half are from the mother (NMT, 2009). When all or some cells of a person contain a partial or full copy of chromosome 21, then the person has Down Syndrome (NMT, 2009; Roizen & Patterson, 2003). Trisomy 21 is the commonest type of Down Syndrome. In this condition, a person has an extra chromosome in each cell. Instead of the normal 46 chromosome, a person suffering from Trisomy 21 will have 47 chromosomes in each cell. This is due to nondisjunction, an error in the cell division that leaves an egg or sperm cell that has two 21st chromosomes at or before conception (NMT, 2009). 95% of those suffering from Down Syndrome have the Trisomy 21 with four fifth of this coming from nondisjunction of egg cell of the mother (NIH, 2012). Iannelli observes that 8% cases of the condition the fathers provide an extra 21st chromosome with 2% being a result of mitotic error just after fertilization when ovum and sperm are joining (2005). Translocation and mosaicism are the other conditions that contribute to Down Syndrome. Robertsonian translocation takes place when a portion of chromosome 21 detaches itself from a given chromosome during cell division process thereby attaching or translocating itself to chromosome 14 (NMT, 2009). This abnormality causes some characteristics of Down Syndrome. This means that a person suffering from translocation can look physically normal but chances are high that the person may produce a child who has 47 chromosomes. Mosaicism comes as a result of some cells having Trisomy 21 while others are normal. Both translocation and mosaicism contribute to the remaining 5% cases of Down Syndrome. Maternal age also plays a role in causing Down Syndrome (Iannelli, 2005). It has been established that a woman may develop an extra 21st chromosome as she ages. This means that older women have a high chance than a younger mother of giving birth to a child with Down Syndrome. This being the scenario few older mothers get babies with three quarters of the babies born with Down Syndrome being delivered by younger mothers (Iannelli, 2005). This translates to 75% of children with this condition being delivered by younger mothers for less older women than younger women get babies (Iannelli, 2005). Majority of the specialists highly recommend that females who want to get babies when they are past 35 years have to make sure that they undergo a prenatal test for Down Syndrome. There is one in thousand chance of a mother under 30 to get a child with Down Syndrome compared to one in four hundred for mothers who get babies when at 35 years of age or more (Iannelli, 2005). Iannelli continues to observe that when a woman is at 42 chance is one in sixty of delivering a baby with Down Syndrome while at 45 it is one in twelve (2005). As far as it is known environmental factors do not influence chances of a person getting a child with Down Syndrome (Schoenstadt, 2008). Characteristics Down Syndrome’s symptoms can affect one in various ways. But the obvious symptom is the effect of one’s physical features. Those with Down Syndrome have some typical physical appearances with others being more seriously affected (NHS, 2012). Some of the features that people with Down Syndrome may have includes but not limited to; small ears and mouth, eyes which are slanted upwards, flat back of a head, flat nose bridge, protruding tongue and short fingers (NHS, 2012). Other features such as vertical epicanthic folds between inner eye corner and upper eyelids, hypotonia, loose back neck skin, loose joints and low weight are common among those with Down Syndrome (NHS, 2012). Additionally, those children with this condition have a delayed mental and physical development. Normally, growth is supposed to take place through out one childhood stage but people with Down Syndrome register height of below average with men getting as tall as 5.2ft and women going for a maximum height of 4.6ft (Cronk et al, 1988). Because of having mental development problems children with this condition take longer to reach such significant developmental milestones as reading, speaking, socializing with others in addition to walking and crawling (NHS, 2012). This does not mean that those with Down Syndrome do not acquire all or most of the social and mental skills; their development only takes longer than other people. Medically, those with Down Syndrome may also have some specific medical concerns. With proper identification, treatment, and information on medical condition of adults and children with Down Syndrome, majority of those with the condition can live a fairly healthy and longer life. On average the life span of those with this syndrome is 55 years though some live much more. Cardiac abnormality is the most life threatening medical problem associated with the condition. Almost half of children with Down Syndrome are born with congenital heart problem with majority being severe in nature and therefore this calls for a proper cardiac care for children with the condition. Majority of cardiac issues experienced by individuals with the condition are progressive and it is common for some to have a lifelong cardiac medication which may result to some having heart surgery. It is not uncommon for children with the condition to exhibit a poor immune system which expose them to many infections such as frequent flu, cold and cough. Epilepsy, hearing and vision problems, skin problems, thyroid and gastrointestinal problems, and respiratory problems are other medical difficulties faced by people with DS (Goldberg-Stern et al., 2001; Weijerman & de Winter, 2010). Obesity is another medical challenge encountered by those with the condition for food happens to be a driving urge for the majority. Men with DS are usually incapable of fathering children while women demonstrate pronounced low rate of conception compared to those without DS (Johannisson et al., 1983). Females with DS are mostly less fertile and when they become pregnant they may experience difficult labor, premature births or miscarriages. The biggest number of males with the syndrome is uniformly infertile demonstrating deficiencies in spermatogenesis. Health management needs Treatment of people with DS largely depends on specific expressions of the syndrome. For example, those with congenital cardiac disease can undergo a corrective surgery immediately after they are born. People, who manifest insignificant health problems, may not require any therapy. The characteristic facial features connected with DS can be reduced through plastic surgery. This surgery is at times advocated for children with DS so as to reduce social stigma in addition to bettering their quality of life (Olbrisch, 1982). Partial glossectiomy popularly known as tongue reduction is also performed to improve speech and oral competence. Those affected with Down Syndrome are supposed to go for a regular medical checkup and screening. This is because individuals with DS are at an increased risk of such illness as Leukemia, congenital heart conditions, Alzheimer’s disease, eye and hearing problems among others. An early screen can help detect the problem before the symptoms occur. Counseling for those with DS at different developmental stage is important and has also shown some benefits. It is important for both parents and the patients to know more about DS. Nurses and doctors can be at the forefront of assisting in answering any query regarding the condition. To comfortably cope with the syndrome the patient and his or her family need to meet with counselor or social worker for the latter can help discuss any concern about the syndrome. Home, recreational/vocational/educational issues It is worth noting that teenagers with DS undergo hormonal changes just like any other developing children. Young girls with DS receive regular menstruation and therefore parents, guardians or caregivers should ensure that they have given them appropriate instructions in regards to hygiene. Though females with the syndrome are less fertile it is not impossible for them to conceive. Males with DS have less sperm count but it is possible for them to father children. Therefore proper sex education should be given both at school and at home. As people with DS age they become susceptible to memory loss, dementia, hypothyroidism and tonic clonic seizures. Therefore caregivers should make sure that they are observant for symptoms associated with these conditions. Obesity is one of the factor that limit individuals with DS to participate in active sports and recreation a situation that contribute to retardation of their motor skills development producing a sedentary lifestyle as well as high weight gain. Children with DS have to be taught movement language so as to appreciate participating in sports and games which is an important component of developing motor skills. They should also be encouraged to practice because improved fitness, skill proficiency and muscle tone enhance participation opportunities. These practice sessions should be raced with aspects of varieties and fun to enhance and maintain interest (Jobling, 2001). NHS is of the opinion that any child affected by Down Syndrome experiences learning problems (2012). In average, most of normal people have an IQ of 100 while those with Down Syndrome having an IQ of between 25 and 75 which translate to 50 in average (NHS, 2012; Grant et al., 2010). Of particular interest is the fact that children with Down Syndrome have both long-term and short-term memory problems. Concentration problems is another difficult those with Down Syndrome experience. In fact, children suffering from DS have a very low attention span that make them fail to solve simple problems or comprehend consequences of their own actions. Majority of those living with the syndrome experience some aspects of developmental or cognitive delay. So as to benefit they may either attend adaptive or special education classes or go to schools which teach those who are developmentally delayed. Those who attend Montessori schools go on to benefit greatly. Due to the fact that those with DS differ in their communication and language skills, a routine screen for hearing loss and middle ear problem is necessary. Amplification devices like low increase hearing aids can be helpful for learning language. Timely communication intervention has played a big role in fostering linguistic skills. Tailor made individual speech therapy may target certain speech problems, boost speech intelligibility in addition to increasing advanced literacy and language. AAC (Augmentative and Alternative Communication) methods like body language, objects, graphics or pointing are used to help in communication. Future prospects of individuals with Down Syndrome Once those with the syndrome complete high school they enter the job market. Many of them will definitely be placed or find jobs that they will do with some form of assistance. At times, some will work with a part time or permanent job coach. In some other cases, the residential agency may provide them with staff help at work. Where an individual with Down Syndrome is unable to do a job in a community a full time supervisory staff or assistance staff is provided. Day programming is another option provided for those with the condition. In regard to accommodation, individuals with DS should be accommodated together with other normal people for doing otherwise will increase stigma and reduce their social development. Support implications Families and society at large should provide protection and care necessary for people living with DS. The need to educate and make these individual become as independent as possible will require unusual degree of dedication something that will translate to use of large amount of money. However with the current huge goodwill individuals with the condition are receiving from families and friends most of them are becoming independent to an extent of contributing socially and financially towards their well being something that is reducing the participation of helpful yet costly support services that offer such services as psychiatric disorder specialized care. Conclusion Anything that used to increase stigma for people living with Down Syndrome has drastically reduced in the last few years and improved lives of these individuals has been observed. Many families are seeing the need of staying with people with DS and therefore the rates of institutionalization has of late gone down. Increased knowledge of the condition has also enabled the care-givers necessary skills of dealing with individuals with Down Syndrome. The three main types of Down Syndrome are now well known and the dominant characteristic features of individuals with the condition well documented. This has gone a long way in making the society aware of the dos and the don’ts of the condition something which is a plus those with DS. Management issues have enabled those with the condition to improve their lives through education, recreational or vocational ways thereby improving their future prospects of securing jobs. Support implications have also been well pronounced. References Cronk, C., Crocker, A., Pueschel, S., Shea, A., Zackai, E., Pickens, G., & Reed, R. (1988). Growth charts for children with Down syndrome: 1 month to 18 years of age. Pediatrics 81 (1), 102–10. Goldberg-Stern, H., Strawsburg, R., Patterson, B., Hickey, F., Bare, M., Gadoth, N. & Degrauw, T. (2001). Seizure frequency and characteristics in children with Down syndrome. Brain & Development 23 (6), 375–78. Grant, G.,Goward, P., Ramcharan, P., & Richardson, M. (2010). Learning Disability: A life cycle approach to valuing people. New York, NY: McGraw-Hill International. Iannelli, V. (2005). What are the Causes OF Down Syndrome? Retrieved from http://pediatrics.about.com/od/birthdefects/f/down_syn_causes.htm Jobling, A. (2001). Life be in it: Lifestyle choices for active leisure. Down Syndrome Research and Practice 6 (3), 117-122. Johannisson, R., Gropp, A., Winking, H., Coerdt, W., Rehder, H., & Schwinger, E. (1983). Down's syndrome in the male. Reproductive pathology and meiotic studies. Human Genetics 63 (2), 132–38. NHS. (2012). Symptoms of Down’s Syndrome. Retrieved from http://www.nhs.uk/Conditions/Downs-syndrome/Pages/Symptoms.aspx NIH. (2012). Down Syndrome. Retrieved from http://www.nichd.nih.gov/health/topics/Down_Syndrome.cfm#TheOccurrence NMT. (2009). What is Down Syndrome? What causes Down Syndrome? Retrieved from http://www.medicalnewstoday.com/articles/145554.php Olbrisch, R. R. (1982). Plastic surgical management of children with Down Syndrome: indications and results. British Journal of Plastic Surgery, 35 (2), 195–200. Roizen, N. & Patterson, D. (2003). Down's syndrome. Lancet 361 (9365), 1281–89. Schoenstadt, A. (2008). What are the Causes of Down Syndrome? Retrieved from http://down-syndrome.emedtv.com/down-syndrome/causes-of-down- syndrome.html Weijerman M., & de Winter, J. (2010). Clinical practice: The care of children with Down syndrome. European Journal of Pediatric. 169:1445–1452. Read More