Down Syndrome Presentation By: Katherine Mateos Symptoms Life Expectancy Down Syndrome can shorten life because it increases the person’s risk for health problems. In the past two decades however, the life expectancy has almost doubled for people with Down Syndrome, from 25 to 49. Down Syndrome itself is not fatal. Physical signs Physical signs of Down Syndrome include: – – – – – – – – Flat face Upward slanted eyes Deep palm creases White spots in the iris of eyes Loose ligaments Small hands Short neck Abnormally shaped ears Health Problems Down Syndrome puts one at a higher risk for: – Congenital heart failure – Intestinal problems – Celiac disease – Eye Problems – Thyroid Dysfunction – Skeletal Problems – Dementia Other Symptoms Other symptoms can range from mild to severe. People with Down Syndrome have intellectual and developmental disabilities (IDDs) which limit intellectual and adaptive behaviors. They also may have delayed language development and slow motor development. Causes Why It Happens The reason for Down Syndrome is that there is an extra chromosome. This results in 47 chromosomes instead of 46. When someone has Down Syndrome, instead of having three copies of chromosome 21 instead of the two that they are supposed to have. The cause of the extra chromosome has not been discovered. How It Affects Other Systems Down Syndrome affects other systems by putting you at risk for diseases that affect various systems of the body. An example of this is that Down Syndrome may put one at risk for congenital heart failure and in that way affects the cardiovascular system. Prevention Risk Factors Although Down Syndrome can’t be completely avoided, the following things may increase the risk for Down Syndrome. • Older mothers • Mother exposed to X-Rays • Parents carrying the Down Syndrome gene Epidemiology When was it first seen? • A Saxon skull from the seventh century was found to have the structural changes of a child with Down Syndrome • Figures made 3,000 years ago resemble people with Down Syndrome. Who discovered it? • Down syndrome was first described by John Down in a published paper in 1838. • John Down is credited for describing details and distinguishing children with Down Syndrome. Treatments Therapy People with Down Syndrome may take certain therapies. One type of therapy people with Down Syndrome may take Physical Therapy to avoid poor muscle tone. They may also take Speech Therapy to help with speech, and Occupational Therapy to help the person learn to perform everyday tasks. Children with Down Syndrome may also take special education classes. Could there be a cure? Scientists think that they may be able to find a cure for Down Syndrome. To find a cure, it is important to pinpoint how Down Syndrome leads to retardation. One cure that is being tested is highpotency antioxidants, which seems promising. Scientists also believe that drugs used to treat Alzheimer’s disease may be useful. Resources • Unruh J.F. Down Syndrome: Successful Parenting of Children With Down Syndrome • Pueschel S. M. A Parent’s Guide to Down Syndrome Towards a Brighter Future • http://www.boston.com/yourlife/health/diseases/article s/2004/01/27/down_cure_might_be_within_reach/ • http://www.nichd.nih.gov/health/topics/down_syndrom e.cfm • http://www.mayoclinic.com/health/downsyndrome/DS00182/DSECTION=risk-factors http://mccneb.edu/ • http://click4biology.info/