Down's Syndrome: Research
1. Research on detection of Down's syndrome during pregnancy by blood tests
According to the analysis done by Aria Diagnostics, the blood tests developed by them can detect Down’s syndrome and Edward’s syndrome before 20 weeks of gestation. This study was published online in the American Journal of Obstetrics and Gynecology. Another study by University College London and University of London reveals that the prenatal blood tests accurately detect all the cases of Down’s syndrome and about 98% of the cases of Edward’s syndrome. Dr Brian Skotko of Children’s Hospital Boston, who worked in a Down’s syndrome program believes that the accuracy of these tests is pretty good and because of so much competition in blood tests, the prices can reduce to a large extent. While Dr Kypros H. Nicolaides believes that the universal screening depends on cost of these tests as the current methods like biochemical testing and sonography are quite cost effective.
2. Research to maintain excitation and inhibition in an individual with Down's syndrome
This novel research evaluates the circuit actions that are associated with memory and learning abilities. This research is funded by Down Syndrome Research and Treatment Foundation (DSRTF). Excitation and inhibition are responsible for these circuit actions. When the mouse model of Down’s syndrome was studied, it was found that both excitatory and inhibitory inputs were not balanced in the hippocampus area of brain which is accountable for memory and learning abilities. Excess inhibition was found in the mouse model of Down’s syndrome. The main objective of inhibition is to lessen the capacity of circuits so that it can change according to learning processes. The analysis of these researches serve as the basis for many researches that boost memory and learning abilities and reestablish the effective balance in patients of Down’s syndrome. The multiple subtypes of GABA-A receptors, which are responsible for inhibition, are being studied by scientists at Dr. Craig Garner’s Lab at Stanford University. Research is going on at Johns Hopkins University on methods to balance excitatory and inhibitory inputs to the hippocampus.
3. Research on ineffectiveness of Alzheimer's medicines on Down's syndrome
According to this study, medicines which are effective in managing Alzheimer’s disease are ineffective for Down’s syndrome. A drug named memantine is not very promising for people suffering from Down’s syndrome and people who are more than 40 years of age. The drug was previously thought to be effective on mice with Down’s syndrome. When memantine (88 people) and a placebo (85 people) was given to people for about one year, the functionality of brain got reduced equally in both the cases. Around 11% of the people showed adverse effects of these medicines.