DOWN SYNDROME

Down Syndrome

Down Syndrome

Introduction

This paper intends to explore the disease called “Down Syndrome”. It explains the causes of this specific disorder, which is found in infants since birth. Further, diagnosis, treatment and characteristics are also discussed in the paper. In addition, a case of a 5 year old child is examined, who is suffering from Down syndrome. His present level of performance is analyzed in the areas of Gross motor, fine motor, communication, social and play skills, self-help skills, cognitive skills. Moreover, two teaching strategies are suggested in his case. Also, 2 ways are highlighted in which the parents of a child may get involve in order to teach their special child.

Discussion

Definition

Down syndrome is the most identifiable and common condition of chromosomal, which is related to intellectual disabilities and malformation in a new born. Further, there is also facial features impairment. The severity of these malformations depends from child to child (Cohen, W. et.al, 2003). Causes or Theory

The cause of Down syndrome is the presence of additional genetic cells on chromosome 21. Chromosomes are cellular structures that are known to carry genes. In general, each individual carry 23 pairs of chromosomes or in other words 46 chromosomes in total. It inherits a pair of chromosomes from the mother's egg and one sperm from the father. In usual scenario, the union of egg and sperm results in fertilized egg with 46 chromosomes (Scala, I., et al, 2006). Sometimes something goes wrong before fertilization. An egg or sperm development can be divided incorrectly and produce an egg or sperm with a chromosome number 21. When the sperm unites with an egg, the resulting embryo has 47 chromosomes instead of 46.

Occasionally, before fertilization, a part of chromosome 21 breaks off during cell division and attaches to another chromosome in the egg or sperm. The resulting embryo may have what is called translocation Down syndrome. Affected individuals have two normal copies of chromosome 21 plus extra chromosome 21 material attached to another chromosome. This type of accident in cell division is responsible for approximately 3 to 4 percent of cases of Down syndrome. 3 In some cases, the parent is a redistribution of chromosome 21, called a balanced translocation, which does not affect their health (Hassold, and Patterson, 1999). Approximately 1 to 2 percent of people have a form of Down syndrome called mosaic Down syndrome. 3 In this case, the accident in cell division occurs after fertilization. Affected individuals have some cells with an extra chromosome 21 and others with the normal amount.

Diagnosis

A pregnant woman can be screened to identify violations of the fetus. Many standard prenatal examinations are conducted to detect Down syndrome in the fetus. For example, there are specific ultrasound signs, symptoms. Genetic counseling with genetic tests ( amniocentesis , chorionic villus sampling , cordocentesis ) is usually offered to families in which the risk of having a child with Down syndrome is greatest. In the U.S., invasive and noninvasive examinations are available to all women, regardless of ...