Sunday, July 08, 2007

Williams syndrome: infantile colic, dorsal/ventral balance, patterning genes and genetic determinism

The NYT has a long article on Williams syndrome. There's a lot in there, as noted by "bestyoucanbe" (emphases mine):
Be the Best You can Be: Williams syndrome: the NYT Magazine review

Williams syndrome has some features in common with autism, but it is, scientifically, much easier to study. For one thing it's much better defined than autism; persons with "Williams syndrome" resemble one another more more closely than persons with "autism". For another, we have a reasonable understanding of the gene injury involved, and we can expect to match up the gene products with the "phenotype" (behaviors)...

....Williams syndrome is fairly well characterized because of the physics of our chromosomes. The defect involves a patch that is prone to being "wrongly ripped", but the absence is not lethal. It is very likely that some of these genes are injured in other ways, or they vary in other ways. Persons with these variations won't have Williams syndrome, but they will have some characteristics of Williams syndrome. Some of those characteristics will have adaptive advantages, some won't. Something to remember when conversing with a "normal" person who's very talkative, doesn't seem to know when to pause for breath, and isn't very good at abstract thought ...

... There's a lot here. For example, the incidental comment on infantile colic made my eyebrows jump. Does Williams offer clues to one of the most puzzling and common disorders of infancy -- the mysterious disorder we call "colic"?!

The "dorsal" and "vental" regions remind me of the "left" and "right" hemisphere of the 1980s. Just like "left" and "right" hemispheres the "dorsal" areas sound more "male" and the "ventral" sound more female. One wonders how they morph during adolescence. As to dorsal/ventral balance (and SAT score balance) being rare; I suspect it's not so much that a "balance" is rare but rather that there's a comparatively flat normal distribution -- any point in the curve is 'rare'.

The "patterning genes" are also likely to feature in many stories over the next few years, as we learn how they influence talents and preferences. Sociopaths, of course, are of great interest to all of us these days ...
There are a few predictable outcomes of this research in the our evolving world. One is that, like Downs syndrome, Williams syndrome will become very rare over the next twenty years. The other is expectation is that we will learn how to tweak the dorsal/ventral balance; we'll misuse this knowledge somehow.

1 comment:

Maddy said...

We're hoping that when DSM IV is revamped that a far tighter diagnostic criteria will evolve to help clinicians and parents.
Best wishes