Breakthrough in Down Syndrome – Cognitive dysfunction reversed in mice
Back in the 90’s, a woman named Dixie Lawrence made a splash on the internet by describing how her daughter with Down Syndrome experienced improved growth, health and cognition after starting a regimen of nutritional supplements and piracetam. I recall reading that she noticed that her infant daughter was not actually retarded – at least not yet.
Dixie’s routine for changing diapers always ended with a playful rub of Madison’s stomach. One morning, when Madison was eight months old, a fatigued Dixie said to her, “Well, honey, I’m tired, you’re going to have to rub your stomach yourself.” And Madison did just that.
It hit Dixie like a ton of bricks. She realized that her daughter was not retarded, and that if she wasn’t retarded, she would develop retardation. If this was the case, there had to be something that could slow it down or stop it! In a modest bedroom in rural Louisiana, Dixie Tafoya “looked through the telescope,” and in spite of what everyone “knew,” she saw perfectly round planets. With that insight, she jumped light years ahead of all the “experts.”
from Looking Through A Telescope, by Julian Whitaker M.D., Whitaker Wellness Institute
In other words, this was a view of Down Syndrome as a developmental problem, where the cognitive deficits increase with age.
Now studies are confirming the developmental aspect of Down Syndrome’s effects on learning. Researchers at Stanford have linked the cognitive deficits associated with Down Syndrome with neuronal breakdown in an area responsible for mediating the formation of memories in the hippocampus. When memories are being formed, neurons in an area called the Locus Coreolus use norepinephrine to carry information to areas of the hippocampus which perform contextual discrimination and allow important learning processes to take place.
When the neurons in the Locus Coreolus break down or don’t exist in great enough numbers, contextual and spatially encoded memories can’t be created, and it is much harder to learn many types of tasks. Interestingly, what are called “Cued recall” tasks, in which memory is elicited by sensory cues like color or sound, are not affected, because they are controlled by a different area of the brain. As children with Down syndrome age they fall further and further behind because they can’t use spatial and contextual information to learn as well as normal children.
It’s important to note that the receptors for the neurotransmitters exist, but they simply don’t get the chemical messages they need to perform their tasks. The Stanford study used this fact to try to improve learning performance in the mouse model of Down Syndrome by restoring normal concentrations of norepinephrine in the brain, using the norepinephrine precursor drug Droxidopa. The mice, who had cognitive deficits resulting in impaired nesting behaviors improved rapidly.
The authors suggest that it may be possible to treat Down Syndrome-related cognitive disability in humans by improving norepinephrine neurotransmission using targeted drugs such as Droxidopa.
Update: I’ve recently learned from Dixie Lawrence that her daughter is doing very well, graduating from highschool with a 3.5 grade point average. She also mentions
Never have I said that targeted nutritional intervention “cures” Down syndrome. However, we know enough now to have a prevention level that exceeds or at least equals the prevention level of neuro-tube defects – which is a big deal and due directly to a theory I had that was proven correct in 1999 by a study I participated in with Jill James of the NCTR. “
( The study is described in this article in american Journal of Clinical Nutrition)
She goes on to say
“targeted nutritional intervention stopped being a theory many years ago. While it is not called ‘standard of care’ most parents are provided with the option by their pediatricians.”
- Science Daily: Cognitive Dysfunction Reversed in Mouse Model of Down Syndrome
- Science Translational Medicine: Restoration of Norepinephrine-Modulated Contextual Memory in a Mouse Model of Down Syndrome: DOI: 10.1126/scitranslmed.3000258
More on Dixie Lawrence , Targeted nutritional intervention, and the research study on maternal risk factors for Down Syndrome, related to abnormal folate metabolism in the mother
- Looking Through A Telescope, by Julian Whitaker M.D., Whitaker Wellness Institute
- Targeted Nutritional Intervention (TNI) in the Treatment of Children and Adults with Down Syndrome
- James SJ, Pogribna M, Pogribny IP, Melnyk S, Hine RJ, et al. Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down Syndrome, Am. J. Clin. Nutr., 70: 495-501, 1999.