The Identification of Down Syndrome - Article Example

Down Syndrome Definitions Down Syndrome or Down’s Syndrome, abbreviated as DNS or DS, is also referred to as trisomy 21. It is a disorder associated with the genes of an individual and it arises from the availability of a part of or all of the third copy of chromosome 21. This disorder is normally associated with delays in physical growth, facial features that are characteristic, and mental disability ranging from mild to moderate. The average intellectual quotient of a young adult who has Down Syndrome is 50, which is equivalent to the intellectual age of a child who is of 8 or 9 years of age, though this varies broadly (Winders, 2014). The identification of Down Syndrome can be done during the pregnancy period through prenatal screening proceeded by a diagnostic testing. The identification can also be done after birth by genetic testing and direct observation. Since the screening was introduced, pregnancies which are diagnosed with the disorder are often terminated. Throughout the life of a person, regular screening is highly recommended for the purpose of diagnosis of health problems that are in Down Syndrome. Proper care and education have shown the potential to make some improvements in the individual’s quality of life. A number of the children suffering from the disorder attain their education in classes from a typical school while others need education that is more specialized. Various individuals suffering from Down Syndrome complete their high school education successfully, but few of them attend post-secondary education. When these people become adults, approximately 20% of them in the United States carry out paid work in a certain capacity with most of them requiring a work environment that is sheltered. There is the need for support regarding legal and financial matters. The life expectancy of an individual with Down Syndrome is approximately 50 to 60 years if they are in the developed world that has proper health care. In humans, Down Syndrome is considered to be the chromosome abnormality that is most common since it occurs in one out of the 1000 babies that are born each year. The disorder derives its name from John Langdon Down, who was a British doctor and had succeeded in describing the syndrome fully. The description of some factors of the condition was given earlier in the year 1838 by Jean-Etienne Dominic Squirol and in the year 1844 by Edouard Seguin. In the year 1959, French researchers identified the major cause of Down Syndrome genetically, that is, having more copies of chromosome 21 (Judd, 2014). Characteristics After the child is born with the suspected Down Syndrome disorder, the first and foremost stage in the evaluation of a child or an adult suffering from Down Syndrome who has some behavior concerns is determining whether any chronic or medical problems that are related to the behavior that is identified are present. The more usual medical problems that may be related to behavior changes may comprise of: thyroid function, sleep apnea, deficits in hearing or vision, celiac disease, anaemia, constipation, anxiety, gastroesophageal reflux, and depression. The evaluation by primary care physician is a crucial constituent of the original work-up for the behavior problems found in children or adults suffering from Down Syndrome (Faragher & Clarke 2014). The challenges in behavior observed in children with the disorder are normally not so much different from the challenges observed in children that develop typically. However, these challenges may take place at a stage that is considerably late and may take somewhat longer period. For instance, temper tantrums are normally common in children of the age of 2 to 3 years, but for children with Down Syndrome, these tantrums may be witnessed at the age of 3 to 4 years. While carrying out the evaluation of the behavior exhibited in children or adults with Down Syndrome, there is a great importance to focus on the behavior in terms of the developmental age of the individual, but not his chronological age only. It is also crucial to be in the knowledge of the expressive and receptive language skill levels of the individual since many of the behavior problems are associated with frustration with communication. In most of the times, the behavior issues can be tackled through finding methods of helping the individual with Down Syndrome to have a more effective communication. It is important to highlight some of the usual behavior concerns (McFarlane, 2014). The first one is running off or wandering. The most crucial thing is the child’s safety. This may be composed of door alarms and good locks at home and a plan that is written at school in the IEP concerning the role of each person in case the child leaves the playground or the classroom. There should be visual supports, for instance, a STOP sign written on the door and the children seeking the permission to move out can act as a reminder to the children or adults with Down Syndrome to seek permission prior to leaving the house. The second behavior concern is oppositional or stubborn behavior. A description of the behavior of the child or adult during a normal day at school or at home may sometimes be helpful in identifying the event that may have led to non-compliant behavior. Sometimes, oppositional or stubborn behavior may be the way of communication of frustration to an individual or failure to understand due to their language or communication problems (Dymond, 2014). Children known to have Down Syndrome are very good in the distraction to teachers or parents when they face a challenge of a difficult task. The third typical behavior concern is the attention problem. Individuals diagnosed with Down Syndrome may have ADHD though they are supposed to be evaluated for the span of their attention and impulsivity considering the developmental age but not chronological age strictly. The usage of teacher and parent rating scales, for instance, the Conners Parent and Teacher Rating Scates and the Vanderbilt can be very crucial in diagnosis. The disorders related to anxiety, problems of language processing and loss of hearing may also avail themselves as attention problems. The fourth behavior concern to children or adults with Down Syndrome is compulsive or obsessive behaviors. These behaviors may sometimes seem to be very simple, for instance, a child may want the same chair always. However, compulsive/obsessive behavior may also be subtly repetitive most of the times, manifesting itself through habits like dangling belts or beads during the time he is not directly engaged in an activity. This sort of behavior is usually exhibited mostly in younger children who have Down Syndrome. The number of obsessive/compulsive behavior in children who have Down Syndrome has no much difference from that exhibited by normal children who are at similar mental age, though the intensity and frequency of the behavior often seems to be greater. Increased levels of worry and restlessness may result in the children or adults behaving in a way that is very rigid. The fifth behavior concern is the autism spectrum disorder (Miller, 2014). The presence of autism is normally witnessed in about 5-7% of the individuals with the Down Syndrome. In the general population, the diagnosis is normally carried out at a later age, approximately at 6 to 8 years of age. The regression of language skills also, if present, takes place at a later stage like 3-4 years of age. Potential intervention strategies are similar to that of any child suffering from autism. Early identification of signs of autism is very essential so that the child can be offered the educational and therapeutic services that are the most appropriate. General Teaching Strategies and Prognosis for Adult Years It is very crucial that the nurse understands the usual physiological changes that take place with age and to have the knowledge of adapting teaching strategies so that they can accommodate the usual aging changes. Since in the fifth or the sixth decade of a person’s life chronic diseases seem to show a higher prevalence, many of the health teaching for the older people focus on disease and illness management. Often, older people are coping with different types of losses which include loss of life-long friends, spouse, and the individual physical capabilities. While carrying out the education at adult years, it is essential to interact with all elderly patients as an individual who is unique and able to learn and change (Judd, 2014). During all stages of the process of teaching and learning, that comprises of assessing, planning, implementing, and evaluating, the teacher should not just focus his attention to the medical problem that is existing but also to the probably numerous psychosocial and functional problems that are associated with old age. References Winders, P. C. (2014). Gross motor skills for children with Down syndrome: A guide for parents and professionals. Judd, S. J. (2014). Genetic disorders sourcebook: Basic consumer health information about heritable disorders, including disorders resulting from abnormalities in specific genes, such as hemophilia, sickle cell disease, and cystic fibrosis, chromosomal disorders, such as downsyndrome, fragile x syndrome, and klinefelter syndrome, and complex disorders with environmental and genetic components, such as alzheimer disease, cancer, heart disease, and obesity; along with information about the human genome project, genetic testing and newborn screening, gene therapy and other current research initiatives, the special needs of children with genetic disorders,a glossary of terms, and a directory of resources for further help and information. Faragher, R., & Clarke, B. (2014). Educating learners with down syndrome: Research, theory and practice with children and adolescents. McFarlane, J. (2014). Writing with Grace: A journey beyond Down syndrome. Dymond, S. (2014). Removing the fear of raising a child with down syndrome: Waising Miss Chloe. Miller, S. (2014). All by Myself: Snapshots of a child with down syndrome learning the value of independence. Charleston, SC: CreateSpace Independent Publishing Platform. , Read More