The Developmental Problems Associated with Downs Syndrome - Research Paper Example

Research on Case Studies on children with Down’s syndrome Introduction Discovered in 1866 by Doctor Langdon Down and thus its name, Down’s syndrome is a genetic condition that is brought about by an additional chromosome in the nucleus component of the body cells. Initially, when it was discovered by Down, it was identified as a disorder as he only made observations. However, later on in 1959, scientists ascertain its origin as being genetic (“Heyn”). Its complication arises from the fact that a person with the syndrome has a complete or part extra replica of chromosome 21. Typically, the cells found within the human body comprise of a nucleus component that houses chromosomes, which should be 23, and where half of each of them are inherited from either parent. This extra replica of chromosome 21 is what causes the developmental problems associated with Down’s syndrome as it changes the genetic material (“What is Down’s Syndrome”). Symptoms attributed to it include difficulties with cognitive functions, characteristic facial features, and low muscle tone, delays in development, leukemia, heart defects and early onset Alzheimer’s. It is fundamental to articulate that these symptoms contrast from mild to rigorous. It is approximated that an individual with Down’s syndrome and in good health will have a life expectancy of 55 years or more (“Heyn”). Case Studies a) ENT and Speech Disorders in Children with Down's Syndrome: an Overview of Pathophysiology, Clinical Features, Treatments, and Current Management Pathological processes, such as ENT disorders, are of considerable significance in the pursuit of boosting life expectancy, as they are quite frequent and severe in individuals with Down’s syndrome. The ENT disorders comprise upper airway and ear abnormalities, immunodeficiency and facial dysmorphisms. Accurate knowledge of these disorders is required in order to avoid their long-term effects or improve their prognosis. This case study was undertaken to assist health care professionals in ENT management by giving suitable recommendations (Frederic et al 784). First, the researchers attempt to explain the occurrence of the facial dysmorphisms, which relate to other soft tissue and skeletal defects. The major skeletal defects causing the facial dysmorphisms, further on referred to as craniofacial features, is brachycephaly where the brain has a regular structure and there is a mid-face deficiency resulting in a flattened profile (Frederic et al 785). The most common symptom in children with Down syndrome is impaired hearing; that occurs because of the external ear canals being blocked by skin debris and earwax. It is essential to diagnose and treat this early enough in order to lower communication problems and social impairments. The authors of this study suggest that for a proper diagnosis physicians need to conduct a clinical examination and behavioral audiometry depending on the age of the child and their developmental stage. Clinical examination is moreover significant with the upper airway obstruction that causes breathing disorders and obstructive sleep apnea syndrome (OSAS); therefore, the clinical examination is particularly useful in order to pinpoint the cause of OSAS as it occurs due to multiple reasons. Some of the features to be monitored during the clinical examination include snoring, noisy breathing and behavioral changes. This accompanied with heart defects determine the course of treatment where surgery is often implemented. However, before implementing surgery or in the event that it is contradictory, the physician should opt for C-PAP (continuous positive airway pressure) and oxygen (Frederic et al 787-789). b) Phonological awareness and oral reading skill in children with Down syndrome This study is undertaken to depict the link between phonological awareness and oral reading development where phonological awareness is defined as, the capability to focus knowingly on the sound composition of language. Usually, its assessment will involve manipulating the phonological parts of language, for example, breaking down words into their phonemes or syllables. This has now been credited for a while to the proper development of reading skills in children with Down syndrome. This is because it encompasses numerous measures such as reading of short passages, words and non-words including also comprehension (Cupples and Teresa 595). The research concludes that early oral reading skill as a measure of phonological awareness does indeed improve verbal communication among children with Down syndrome. The early oral reading skill is developed through phoneme segmentation skill. Fundamentally, children with these segmentation skills along with the knowledge of corresponding letter-sound structure are able to figure out how the new words that they come across will appear in print (Cupples and Teresa 606). c) Communication Problems and Down Syndrome James McDonald has over time attempted to find ways in which communication by children with Down syndrome may be improved. He has been able to do this by monitoring the interactions that the children have with their parents, peers and clinicians. This is because generally children with Down syndrome have a hard time communicating with people around them; therefore, it is important to formulate treatment programs that will enable them to develop pre-conversational skills. Therefore, in order to improve the child’s communication, the findings of this research propose that the children should be directed at natural approaches of interacting with people, encouraged to play with people as opposed to simply being left alone to engage in their toys. In addition, they should be given the chance to communicate independently about things they can do and have the time to do them; the child should be exposed to more and longer interactions with people. Furthermore, parents or guardians should teach the children to adapt new sounds and movements as they go along and later on translate this into words, instead of stopping at basic communication. Ideally, the child should be taught words that go with his present knowledge and motivations, which implies that they should have words for home activities before school activities. d) Parental reports of spoken language skills in children with Down syndrome This study sought to scrutinize individual variation and growth trends in spoken-language development in a representative sample of children with Down syndrome in Sweden. The spoken-language development was measured against a pre-set criterion that includes utterances- referring to standard pronunciation of long words, vocabulary size, grammar and practical skills. The main purpose was to provide clinicians and researchers with pertinent information on development of communicating skills (Berglund, Marten and Irene 179-180). The findings point out that there is a wide-ranging variation in the onset of spoken language and later progress concerning communication among children with Down syndrome. This study evaluated this progress whilst comparing children with and without Down syndrome. Results were that both groups of children spoke their first words at the around the same age though language development in children with Down syndrome was shown to be lagging. Another important aspect identified by this study was a difference in language development concerning sex where girls are seen to progress faster than boys do while they are at an early age. The other issue is that children with Down syndrome are unable to talk about absent objects, past and future situations at the same time as the unaffected children. In conclusion, the study proposed that children with Down syndrome should be introduced to more vocabulary than unaffected children are in order to develop their grammatical skills (Berglund, Marten and Irene 188-191). Case studies in Down syndrome children Thesis: Down syndrome is a condition that results in developmental problems in children leading to impairment of cognitive functions. ENT and Speech Disorders in Children with Down's Syndrome: an Overview of Pathophysiology, Clinical Features, Treatments, and Current Management There are pathological processes, classified as ENT disorders, which are brought about by Down syndrome and are observable early in children: Craniofacial defects Hearing impairments In order to improve life expectancy, it is crucial to detect these disorders early and formulate a treatment plan Early detection is crucial in order to enable clinicians deal with resultant symptoms such as OSAS, hearing impairments and improving communication Phonological awareness and oral reading skill in children with Down syndrome In developing the spoken-language structure in children with Down syndrome, phonological awareness is quite useful. This involves teaching the children to identify sound structure in words thereby enabling them to figure out the new words that they face in print Communication Problems and Down Syndrome To improve communication in children with Down syndrome they should be encouraged to interact with other people Engage in activities with people learn how to talk about things that they can do and go about doing them independently learn words that will replace their sounds, gestures and movements Parental reports of spoken language skills in children with Down syndrome Children with Down syndrome require exposure to a wider selection of vocabulary compared to unaffected children in order to improve their grammatical skills Reflection Down syndrome is a condition that requires parents or guardians and teachers at school to have extensive information regarding its management. More importantly is that early detection is necessary in order to ensure that the overall life expectancy is increased. The symptoms of Down syndrome vary with every individual meaning that treatment cannot be standardized all persons that are affected by it. Some of the symptoms such as difficulties in cognitive functions can be mitigated while children are at a young age. This is when they should be taught how to, for instance, interact with people, develop a proper structure for spoken-language and overall communicate effectively with people around them. Works Cited Heyn, Sietske N. “Down’s Syndrome”. MedicineNet. n.d. Web. 27 November 2012 ”What is Down Syndrome”. National Down Syndrome Society. 2012. Web. 27 November 2012 < http://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/ > Frederic Venail, Quentin Gardiner and Michel Mondain. "ENT and Speech Disorders in Children with Down's Syndrome: An Overview of Pathophysiology, Clinical Features, Treatments, and Current Management." Clinical pediatrics 43.9 (2004): 783-91. Cupples, Linda, and Teresa Iacono. "Phonological Awareness and Oral Reading Skill in Children with Down Syndrome." Journal of Speech, Language, and Hearing Research 43.3 (2000): 595-608. Macdonald, James. “Communication Problems and Down Syndrome”. Communicating Partners. n.d. Web. 27 November 2012 Berglund, Eva, Marten Eriksson, and Irene Johansson. "Parental Reports of Spoken Language Skills in Children with Down Syndrome." Journal of Speech, Language, and Hearing Research 44.1 (2001): 179-91. Read More