The Negative Effects Of Down Syndrome

Down Syndrome is the most prevalent and recognizable chromosomal abnormality in live born children, with a current prevalence of 2.8 out of 1000 children born with the genetic disorder [1]. In 1866, John Langdon Down termed the condition “mongolism” before it was later termed Down syndrome in honor of his discovery. Nearly a century later, geneticists Jerome Lejeune and Patricia Jacobs reported the chromosomal abnormality for the first time in humans to be secondary to a trisomy of chromosome 21 [1]. The reason that Down syndrome is still so common today is because there has been an increase in older women having babies. Maternal age is an important factor that plays into the possibility of a child being born with Down syndrome. More than half of the pregnancies with Down syndrome occur in women who are over 35 years old [1].
For the past 50 years, medical technology has drastically improved and created the ability to observe abnormal fetal characteristics through the use of modern techniques, such as ultrasound and aneuploidy screenings. Once the child is born, some characteristics of humans affected with Down syndrome include having a broad, flat face, oval eyes, a small nose, a thick Down Syndrome: From History to Genetic Mechanisms 2 tongue, and large, thick lips [2]. …show more content…
The skin also often has a slight dirty­yellowish tint and has elasticity deficiency, which creates the appearance that it is too large for the body [1].
Fortunately, with the advancements in the medical field, life expectancy for individuals affected with this disorder has continuously increased over the years. While it was previously thought that individuals with Down syndrome would not have an adequate lifespan, more than half of the individuals affected now are expected to live to be older than 50 years of age. The primary cause of death among individuals is the occurrence of heart problems. Various irregularities of chromosome 21 can lead to different forms of Down syndrome, and while some forms are more common than others, the lasting effect is still the same.
Symptoms and Treatment Although symptoms of Down syndrome are not found during pregnancy, screening and diagnostic tests may be done to determine the possibility and degree of risk of having a baby with Down syndrome [3]. Neither one of these tests can for sure determine if the baby will have Down syndrome or not. However, knowing the possibility can allow for parents to prepare for a child with Down syndrome. Once the baby is born, physical symptoms may include poor muscle tone, a compressed face, short fingers, upward slant of the eyes, a short neck, and a smaller head, ears, and mouth. The degree of the intellectual problems someone has can vary from person to person. Usually, their cognitive impairment ranges from mild to moderate, only rarely being severe. Those with Down syndrome also tend to be more prone to other health issues, such as gastrointestinal blockages or heart defects [3]. Down Syndrome: From History to Genetic Mechanisms 3 Despite having setbacks, people with Down syndrome are able to lead normal lives, including going to school, having a social life, and playing sports. They may end up living independently or in supported independent living homes. Currently there is no cure for Down syndrome, but there are plans that can help with hardships that they go through. Children who attend school and have Down syndrome may be put into specialized classes where their specific needs can be met. Physical therapy involves treatment including activities and exercise to build motor skills and strength. Speech­language therapy helps those with Down syndrome improve their communication skills. Occupational therapy helps with everyday tasks, and emotional and behavior therapies help in finding useful responses for wanted and unwanted actions [3]. There is new research being performed at the University of Massachusetts Medical School in Worcester in hopes of one day reversing the symptoms of Down syndrome. In order to do this, they insert XIST, which is the silencing function found on one of the X chromosomes in women that is used to suppress one. The scientists believe that if inserted into the extra copy of chromosome 21, some of the symptoms may be able to be silenced as well [4]. Genetics The genetic