Downs Syndrome & Effective Testing

NewScientist (13 August 2016) reports that if you’re a mouse with Down’s Syndrome, doctors may be able to help you:

Several compounds have improved memory and learning in a mouse version of the condition, suggesting that its cognitive effects can be changed. Until recently, this idea was unthinkable, says Mara Dierssen at the Centre for Genomic Regulation in Barcelona, Spain. …

People with Down’s syndrome seem to have fewer neurons in some brain areas, fewer connections between neurons, and altered neuron behaviour.

In both mice and people, a molecule called NKCC1 seems to be involved. Reducing levels of this compound in neurons taken from Down’s syndrome mice makes them sprout more connections, Laura Cancedda of the Italian Institute of Technology in Genoa told the Federation of European Neuroscience Societies conference in Copenhagen, Denmark, last month.

In 2015, her team found that using a drug called bumetanide to block this molecule made Down’s syndrome mice perform as well as other mice in memory tests. The drug is already used to treat heart disease, and trials in adults with Down’s syndrome are set to start towards the end of this year, says Cancedda.

There’s been some evidence suggesting Prozac given to pregnant women carrying a Down’s child may be helpful. This has led to an interesting blockade in testing:

[Carol] Tamminga [at the University of Texas Southwestern Medical Center] has now begun a small placebo-controlled trial of Prozac in pregnant women. However, she has found that many families would rather try Prozac themselves than risk being allocated to the trial’s placebo group. “Those who are potentially interested in doing this are doing it anyway,” she says.

When my father was diagnosed with pancreatic cancer and recommended for an experimental study, it was not a blinded study, so we knew which arm he landed in, and I recall vividly our relief that he was in the arm in which the new treatment would be studied; the other arm was a standard treatment. Given the morbidity of pancreatic cancer, it seemed going experimental was the best approach.

Since Prozac is easily procured, I can see how desperate parents would decide on self-medication, despite the dangers and unknowns.

Finally, and reminiscent of some in the deaf community, comes objections from those who value Down’s Syndrome patients for themselves:

Rather than trying to develop drugs, it would be better to change our education and work systems to enable people with Down’s syndrome to live fuller lives, says Simone Aspis at the UK campaign group Changing Perspectives.

I glanced around the Changing Perspective website but didn’t find anything on this subject. To me, not working on resolving the disability seems like madness, unless you believe there’s a divinity which has commanded that a child shall have a severe disability. That, too, seems like madness.

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About Hue White

Former BBS operator; software engineer; cat lackey.

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