The idea that there is a cure for Down syndrome bothers some people. Over the weekend, I read a few blogs that say that we cannot remove the extra chromosome from every cell, therefore there cannot be a cure for Down syndrome. It is not about removing an extra chromosome -- our medicine doesn't do that for any medical problem. We treat the symptoms.
What the latest study from Stanford University showed is that 'balancing the brain chemistry', changed how the mice could perform. Treatment or cure for Down syndrome is all about balancing the brain chemistry. But if you think about it, balancing brain chemistry is exactly what psychiatric medicine has evolved into. At one time, you went to the doctor to talk about your problems. Now, you describe a symptom and you are given a prescription to balance the chemistry. It may take some trial and error to get it right, but researchers don't have a mouse model of you. That is where Down syndrome is lucky. They have a little mouse that can help explain what is going on inside their heads.
The other argument against treatment for Down syndrome is that there have not been clinical trials using these psychiatric agents. I would point out that there have not been clinical trials using any medicine commonly given to kids and adults with Down syndrome.
For example, we use antibiotics with Down syndrome and we know they have compromised immune systems. Would we demand a clinical trial before we gave our child Amoxicillin if they had an infection? No, we would just assume that the DS child is similar enough to the average child to safely use the antibiotic.
Have there been clinical trials on the reflux medicine that we give our Down syndrome children? No. Does that stop us from treating the reflux? No.
Have there been clinical trials on ibuprofen or Tylenol that we give our Down syndrome children? No. Does that stop us from giving those medications when they are needed? No.
I looked up clinical trials in Down syndrome and found a vitamin E study, Donepezil (an Alzheimer drug), antioxidant vitamin study, and some growth and thyroid hormone studies.
So, only when we move to try to treat the source of the difficulties is a clinical trial brought up. The source of the slow processing is the brain. The source of the low motor skills is the brain. The source of the low verbal skills is the brain. The source of the poor memory is the brain.
Dr. Craig Garner at Stanford University has been working on the cause of the poor memory in Down syndrome. We now know it is a little receptor called a GABA receptor. Without any treatment the receptor is stuck in the open position in Down syndrome. With some simple chemistry, the receptor can be rebalanced to open and close more normally. This simple chemistry balances the brain chemistry.
Dr. Salahi at Stanford found that the level of norepinephrine is low in subjects with Down syndrome. A common way to restore norepinephrine levels to a more normal level is ADHD medicine.
Dr. Mobley found that the transport system for Nerve Growth Factor was broken so the nerves did not get this necessary support. But when they added it to the nerves, they restarted as if they are lying dormant. To our benefit, a medicine as common as Prozac has been shown to increase another nerve factor chemical (BDNF). This is a fairly easy way to compensate for the brain chemistry imbalance.
Balancing brain chemistry is not new. Many of our friends and loved ones struggle with depression and other brain chemistry imbalances. We understand how they can be helped with the correct medicine. The situation in Down syndrome is the exact same thing; it is a matter of balancing brain chemistry to proper levels.