Another Piece of the Complicated Puzzle

As we have been discussing, in the case of Down syndrome, the balance of DYRK1A gene and DSCR1 gene is off. They are at 1.5 times the normal amount. Another aspect of this imbalance that may make it a really big deal is that one of the major things this affects is the immune system.

Immunosuppressant drugs are used to turn down the immune system when, for example, a person has an organ transplant. The drugs help to turn down the immune system so that the organ is not rejected. The way immunosuppressant drugs work is exactly like having too much DYRK1A and DSCR1. The person with Down syndrome is in a constant state of suppressing their immune system.

PANDA

PANDA is not about a cute black and white bear. It stands for pediatric autoimmune neuropsychiatric disorders. I wanted to mention this at the July conference but we ran short on time. I couldn't stop the intelligent questions the participants had of the scientist from Stanford so I cut myself out. Just as an aside, my friend, Debbie, commented on how well informed the audience was.

PANDA is an idea or theory that some of the obsessive compulsive behaviors (OCD) could be caused by an out of whack immune response. Once Neal's ability to learn and remember improved, we observed much more OCD behavior. Actually, the OCD behavior was always present. It is just that as his function improved you could tell how deliberate the OCD behavior was.

My pediatrician suggested we look at the PANDA theory. Neal had a blood test for antibodies against 'group A beta-hemalytic streptococcus (GABHS). The results showed that he had a significant number of antibodies and he was placed on a month of antibiotics. The regimen included Amoxicillin (250mg 2 x daily) and Azithromycin (250mg 1 tablet/day Monday through Friday).

After one month, we have seen no improvement in Neal's behavior. The pedi wants to try a second month so we are about to start. I'll report back any changes.

Some examples of OCD behaviors include: pushing buttons, closing doors, cabinets, drawers, getting stuck on a thought or idea, pulling out hair, kleptomania, to name a few.