Imagine having a 50% chance of congenital heart disease; of being infertile and unable to have children. Think about having a statistically greater chance of acquiring a plethora of conditions, including epilepsy, leukemia and hearing loss. These are the everyday conditions of a select group of people who have been born with Down’s Syndrome. This genetic condition is currently the most recognizable type of mental disability known to man, and is present in millions of individuals throughout the world. In this presentation, we will examine the symptoms of Down’s syndrome, as well as the research into its management and treatment.
Opitz, in the American Journal of Medical Science, states that Down’s Syndrome was first classified by John Langdon Down, a British physician in 1862. The condition is characterized by a slowing of the brain’s maturation known as neotony – this leaves victims in a childlike state of physical and mental development. Physical symptoms of a Down’s Syndrome patient include a small chin, oblique eye fissures, poor muscle tone, protruding tongue, and other abnormalities. According to Rubin et al. in a chart of DS symptoms, all Down’s Syndrome victims exhibit mental retardation and stunted growth, while most experience some kind of obesity. Young in the magazine New Scientist, states that, most victims experience average lifespans of 49 years of age; causes of death are typically chronic neurodegenerative diseases due to age.
Despite the genetic nature of Down’s Syndrome, there are many potential methods of management available today, with potential treatments being researched. At the point at which newborns are thought to have Down’s Syndrome, according to Rondal in Rehabilitation of Down’s Syndrome, ultrasounds are typically performed to check for congenital heart disease; hearing tests can identify hearing loss, and other screening methods are used to find out what a Down’s-afflicted child is capable of doing. Once that is determined, cognitive development methods are also used to provide an early intervention to teach learning and communication skills; this makes them better able to integrate into society. However, these teaching methods and early education interventions must often continue into adulthood, and great effort is often placed on creating an individual program for each child, according to his or her unique cognitive capabilities.
As for full treatment, Rondal states that genetic therapy is becoming a stronger possibility as the years go on. As medical science advances, and the human genome is more intricately understood, it is becoming possible to use gene therapy in prenatal fetuses to change chromosomal conditions like Down’s Syndrome. Despite this incredible possibility, testing and implementation is still years from being practical.
In conclusion, Down’s Syndrome is an unfortunate, terrifying and debilitating condition for people to endure. However, given the strides in medical technology and management that exist today, it is possible for people with Down’s Syndrome to live long, full lives of relative comfort and usefulness. Despite the arduous struggle that those with Down’s Syndrome have to endure on a daily basis, there are numerous options available to grant them a chance at a normal life.
Opitz John M., Gilbert-Barness, Enid F. “Reflections on the Pathogenesis of Down
Syndrome”. American Journal of Medical Genetics, vol. 7, pp. 38–51. 1990. Print.
Rondal, J.A., Perera, J., & Spiker, D. Neurocognitive Rehabilitation of Down Syndrome: Early
Cambridge University Press, 2011. Print.
Rubin, SS; Rimmer, JH; Chicoine, B; Braddock, D; McGuire, DE. “Overweight prevalence in
persons with Down syndrome”. Mental retardation, vol. 36 no. 3, pp. 175–81. 1998.
Young, Emma “Down’s syndrome lifespan doubles”. New Scientist. 2002. Web. Retrieved 2006-