Down's Syndrome

Trisomy 21 & Nondisjunction

Definition and Causes of Disorder

  • who discovered this disorder and how was it named?
In 1866, Doctor John Langdon Down first described Down Syndrome as a disorder, but he misunderstood how Down Syndrome arises.
  • what part of the body is affected?
Individuals with Down syndrome can have abnormalities affecting general health that may affect any organ system or bodily function. They have an increase risk for cognenital heart defects, respiratory and hearing problems, Alzheimers disease, childhood leukemia, epilepsy, and thyroid condition.

Treatment and Reasearch Outlook

What treatment is offered and what reasearch is being done to help people with this disorder?

what diagnostic tests are done?
screening tests, such as an ultrasound or a blood test during your first or second trimester. These can help show if the developing baby (fetus) is a risk for Down Syndrome.
Medications?
Drug therapy is not currently a component of the standard of care for down syndrome.
Medications are indicated only for symptomatic treatment of pain.
Therapy? Gene therapy?
While there are many treatments for Down syndrome. Down syndrome is not a condition that can be cured.
Current Reasearch?
Most reasearch into Down syndrome has focused on understanding the mechanisms behind its symptoms, Jeanne Lawrence, PhD, from University of Massachussets Medical school (UMMS) and her team have directly addressed.