Down Syndrome Diagnosis

What a Diagnosis of Down Syndrome Means Today

Down syndrome is a condition affecting many Americans and individuals across the world. It presents challenges socially, academically, and behaviorally. However, a diagnosis today is not nearly as detrimental to the person’s quality of life as it was decades ago. Strides have been made in Down syndrome awareness, education and overall acceptance. Screening is now available so that parents know in advance if they are going to have a child born with the condition, and resources are available to help educate and prepare them for creating and maintaining a good quality of life for their child. Down syndrome individuals have been known to graduate high school, enter the work force, and even leave
There is no definite cause for why it happens to certain individuals, only an explanation of what is different inside the body that creates the condition. Encyclopedia Britannica describes how it originates inside the cells of the individual’s body and within the nucleus. This is the place where genetic material is stored inside of the genes. Our genes are what make us unique as individuals, carrying the codes responsible for all of our inherited traits. These genes are grouped along rod-like structures called chromosomes. Typically, there are 23 pairs of chromosomes inside of each cell’s nucleus. We inherit half of these chromosomes from one parent, and the other half from the other. Sometimes, however, an extra chromosome can be present, creating a chromosomal condition called Down syndrome that occurs when an individual has 47 chromosomes instead of the usual 46. The extra chromosome present is either a full or partial copy of the chromosome 21 dubbing the condition with the alternate name of Trisomy 21. Unfortunately for the individual, the extra chromosome changes the body and brain’s normal development and causes mental and physical problems
These statistics have increased significantly over the years due to research and advancements in medicine. “Certain factors seem to influence how long a person with Down syndrome will live, including ethnicity, low weight at birth, and whether the baby was born with a heart defect” (Rasmussen, Lee-Yang Wong, Correa, Gambrell, & Friedman, 1979-1998, p. 807). Unfortunately, about 50% of babies born with Down syndrome today have heart defects, which is a much higher percentage in comparison to the 1% of children born without Down syndrome who have heart defects (www.downsyndrome.about.com). The most common heart defect seen in infants with Down syndrome is an AV canal (atrioventrucular septal defect). There are three other less common heart defects seen in infants with Down syndrome that include ventricular septal defects (VSD), atrial septal defects (ASD), and patent ductus arteriosus (PDA) (www.downsyndrome.about.com). Before, a diagnosis of Down syndrome usually carried a short life expectancy, but with today’s growing advancements in treatment options, most defects can be treated with medication and corrective