Down’s syndrome “is a medical diagnosis, not a name.”

Peter Elliott, Research Director of the Down Syndrome Research Foundation – UK, elaborates on his view of Down Syndrome as a medical problem warranting intervention. Money quote:

The children need our help; they have put on a brave face all of their lives. There is nothing to fear from a cure that is going to improve their memory and reduce brain injury.

More after the jump.

Dr Langdon Down was the doctor who first described similarities in a group of patients who were in his care. They were in a mental asylum. These were just the patients with Trisomy 21 who survived long enough to end up in his asylum, most would have died as babies and young children. After he had described the collection of medical problems in this syndrome including the facial similarities between these patients, these patients were described as having Down’s syndrome. So its a medical diagnosis, not a name.

90 years later Trisomy 21 was discovered by Prof. Jerome Lejeune, to be the cause of Down’s syndrome. Trisomy 21 is a genetic disruption to the functioning of the genes, an extra set of (about 300) Ch21 genes make changes to the function of the normal compliment of (about 60,000) genes and this happens in billions of cells in every part of the body and the brain. Trisomy 21 is life threatening from the moment it happens. Most of these pregnancies will miscarry and the parents not know it has happened. Those babies that survive need a great deal of help throughout their lives. Many of the positive aspects we observe are a fight for survival and acceptance. We all learn how to survive as babies and as children, this survival instinct is something we inherit from our parents, and 100% of our genes are from our parents.

A child with Trisomy 21 is entirely like its parents. Not more like other children with Trisomy 21, (not a new race of people). They may look similar but genetically every child is unique and very different. Those extra genes are making chemicals which screw up the functioning of the other genes. This is especially true in the brain where signalling is controlled by chemicals made by the genes. We can now understand what is going wrong with this signalling and it has nothing to do with a happy smiling face or jumping for joy. Its entirely to do with parts of the brain being shut down by chemicals that are disrupted by those extra Trisomy 21 genes.

Brain function is a lot easier to influence than parents might think. Children can get a sugar high*, some foods give us a headache, aspirin cures a headache, teenagers soon learn about addiction to (so called soft) drugs like cigarettes, alchol, but even the smell of some chemicals will disrupt the brain and make us ill. The brain is very sensitive and accessible to outside influence.

Medicine to help the brain should not scare anyone. If we live long enough we will all need that medicine. Curing the mental disability caused by Trisomy 21 is a search for a very safe (targeted) treatment therapy to allow proper brain function where we know what chemicals are over expressed. It will not be the injection of a chemical into the brain.

Most likely it will be a pill that is taken every day and something that wears off in a couple of weeks if its not taken. In these patients there is evidence of brain injury that leads to dementia and to Alzheimers in the adult years. Any therapy to improve memory will include a therapy to reduce this very high incidence of injury to the brain. Most likely this will be a lipids therapy as simple as taking a small dose of omega 3 (fish) oil or a special lipids prescription.

All of this research is needing our support this is not the time to get cold feet, or make a romance out of a medical condition. The children need our help; they have put on a brave face all of their lives. There is nothing to fear from a cure that is going to improve their memory and reduce brain injury.

* It’s not terribly germane to the issue at hand, but Mr. Elliott is wrong about sugar causing a “sugar high.” Numerous double-blind studies (here, here, here, and here) have failed to support the widely held parental view that sugar ingestion causes hyperactivity. As one author put it, “[This] is one of those cases where the conventional wisdom’s gotten itself a size-16-EEE foothold, and nothing as iffy as mere science is likely to dislodge it. Nonetheless, we struggle onward.”


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