Research Development in Down Syndrome

What is Down Syndrome?

We all have chromosomes. Chromosomes are the bundles that store our DNA, and whilst a ’normal’ person has 46 chromosomes (or 23 pairs), a person with down syndrome has an extra chromosome that makes the 21st pair a trio. This extra chromosome causes a whole lot of effects on a person with Down Syndrome’s development.

Something that I found shocking was the very high level of termination for down syndrome pregnancies. In Australia, only 1 in every 1,100 babies is born with down syndrome, whilst throughout the world it is 1 in every 700. What does that say about us, other than the fact that there must be a pretty unaccepting culture regarding down syndrome here in Australia? It seems strange to think that one place in the world that has the capacity to really care for the disadvantaged actually doesn’t provide the support for people with down syndrome that is needed. 

We say that everything relates back to perception. We tell ourselves that we can run a marathon if we put our minds to it. We say that we can do this and do that, but when do we actually tell ourselves that we can accept disability and move on from the outdated views of the past? Having down syndrome is not a disability that limits lives, but it actually broadens their horizons. People are enriched by new experiences. We triumph multiculturalism, so we need to triumph disability with the same level of enthusiasm. 

What is Alzheimer's?

Alzheimer’s is a disease characterised by a progressive metal deterioration, resulting in impaired memory, thinking and behaviour. It would be such a tragedy for people with down syndrome to lose their memories - there would be so many precious ones that they would love to be able to remember. 

So, what is the link?

Evidence from studies of people with down syndrome who have passed away over the age of 40 have showed that nearly 100% of these people showed changes in their brain that is linked to Alzheimer's disease. Amyloid precursor protein (APP) is an abnormal bi-product of protein catabolism that forms plaques in the brain  and is essentially toxic. This is coded on chromosome 21, so people with down syndrome have 1.5 times as much APP as anyone else, and so this abnormal break down process is much more likely. However, this is not true for all people with down syndrome, so it is not an inevitable outcome. 

We heard there were going to be some complications…

One of the challenges of diagnosis of Alzheimer's in people with down syndrome is that many other conditions also present themselves in down syndrome, such as hypothyroidism and depression, which have signs and symptoms similar to that of Alzheimer's. Diagnosis actually usually occurs after you exclude all the other possible causes of symptoms. 

Now, for some exciting news…

In February 2016 this year I was fortunate enough to go on a New Colombo plan sponsored research trip to Kiribati to look at the effects of climate change on the local people. It was a great opportunity to really understand the complexity of issues that these people were facing. But an experience that came out of the trip that was quite surprising was my series of encoutners with traditional medicine of all things. I spent quite a bit of time talking with the local healers about the benefits of the coconut plant. I even had the experience of a healer going through the processes that he used to address conditions such as epilepsy - on me! It involved a series of complex massages and coconut bark of all things.

But the health benefits of coconut are not going to go unknown for much longer. It is exciting hear about the many uses of the coconut palm that are literally popping up everywhere. It is used as a nutritional supplement, an anti-inflammatory, an anti-microbial and there are many other various uses of coconut. 

Now, the big news. In My 2015, a Toronto University Trial looked into the link between a derivative of coconut palm (scyllo-inositol) and amyloid deposits in the brain. The study concluded that scylla-inositol has the potential to block the development of amyloid-beta plaques in the brains of transgenic mice. 

This sounds very promising, but there are still many facts that need to be confirmed. But things are hopeful. That is good. We have the potential to make big changes to lives across the world in terms of quality and quantity. Hooray!