Saturday, December 31, 2011

Genetics and Autism

I've been sitting on this report for a month or two while I did a bit more research on the original sources and similar studies. As regular readers of this blog know, I believe autism is better described as "autisms" and that likely contributors include de novo genetic complications (sometimes called pre-natal genetic copy variation). In these forms of autism, genes replication introduces errors. This is not the genetic of heredity, a common misconception when the term "genetic" is used to describe some forms of autism.

From CBS News:
Children with autism have distinct facial features
For the study - published in the Oct. 14 issue of Molecular Autism - researchers compared facial features in 64 boys with autism with faces of 41 typically developing boys, all 8-12 years old, with a 3-D camera system. After mapping out 17 points on faces, the researchers found significant differences between the two groups. 
The study found children with autism had wider eyes, and a "broader upper face," compared with typically developing children. According to the study, children with autism also had a shorter middle region of the face - including the nose and cheeks - as well as a wider mouth and philtrum, the divot above the lip and below the nose.
Our default physical features are genetic. (Injuries, diet, and other factors can change those features, but the default is what I am addressing.) There are several genetic neurological conditions that are accompanied by physical characteristics. Some of these conditions are inherited, while other are de novo replication errors. What's important is that this study suggests at least some forms of autism can be "seen" via facial characteristics.

The evidence of a correlation between facial traits and autism was found by the researchers. The more horizontally oval a young boy's face, the more pronounced the autistic characteristics. Because more than 50 boys with autism were examined, the statistical likelihood that this can be generalized is significant.
The study also found that children with more severe autism traits such as behavioral problems, language difficulties, and repetitive behaviors had distinct facial differences from other children with milder autism.
Previous research has found that autism is associated with an increased neural density in the frontal cortex and left frontal lobe regions of the brain. This neural density is the result of de novo "over replication" of some cells. Basically, the forming brain won't stop forming when it reaches the normal stopping point. More and more neurons are created, especially in the part of the brain that controls executive functions.

In 2011, Dr. Eric Courchesne presented a paper on this at the International Meeting for Autism Research. Dr. Courchesne found that autistic individuals have 25% to 65% more neurons in regions of the frontal cortex than are present in typically-developing individuals. (see: http://jama.ama-assn.org/content/306/18/2001)

The increase in neurons originates during cell division occurring between the 13th and 18th week of pregnancy. The early second trimester is when neurons develop. There is no known mechanism that could produce this abundance of neurons after birth, either.

The University of California MIND Institute found that this abundance of neurons is prevalent among autistic children who experienced "regression" — seemingly going from normal development backwards to a non-verbal stage. I've read various theories on this, from "the brain is too big" to "the brain gets overwhelmed."

We don't test "normal" children with MRIs to measure neural density. The only way we will know if the density does predict regressive forms of autism is to scan several thousand children shortly after birth and every six months from then on, until we start to determine which children are autistic.

I want to remind readers, again, that anything we learn about "autism" likely applies only to some people we describe as "autistic." For now, "autism" is a catchall that is more likely to be several different conditions. We are learning more every year, and what we learn also reveals how much we don't know.

Additional Sources:

Courchesne, E. et al. Neuron Number and Size in Prefrontal Cortex of Children With Autism. JAMA.2011; 306(18):2001-2010. doi:10.1001/jama.2011.1638

Lainhart, J. and N. Lange. Increased Neuron Number and Head Size in Autism. JAMA. 2011; 306(18):2031-2032. doi:10.1001/jama.2011.1633

Thursday, December 29, 2011

Autism Website Converted, Updates to Follow

My autism research and speaking website is slowly coming back online after a minor glitch. While this doesn't directly affect the blog you are reading, it does affect a few people kind enough to link to my personal site.

Over the Christmas break, my wife and I upgraded our home computer systems and much of our software. The upgrades included Adobe Creative Suite 5.5 and migrating our systems to the latest OS X 10.7 release. Overall, the process was uneventful. However, there was one small glitch: our personal websites were created in iWeb. For our business website, we have long used Dreamweaver (back to the earliest Macromedia versions), but iWeb was ideal for visually appealing sites for friends and family.

While I could have forced iWeb to continue working for us, we decided to migrate to RapidWeaver 5. The migration was relatively painless. I say relatively because moving to RapidWeaver did rearrange directories. Several websites linked to information on my personal autism pages… and now those links are broken. I'll do some redirecting of links, but I'm sure some links will simply be "dead" unless the linking site decides to update the URLs pointing to my pages.

The updated URL to my personal autism site is:
http://www.tameri.com/csw/autism/index.html

In the coming weeks, I will restore some of the charts, graphs, and information from my doctoral research. This process will take time, but the data will reappear eventually. The charts on autism rates and diagnostic criteria are useful and I will restore those as soon as possible. I'll also restore some slide shows, most likely during the summer months.

On another topic, I've been pondering adding a podcast to The Autistic Me. I'm not sure if that's a good idea or not, or even if there would be any interest. If you are a reader of this blog, how do you feel about a weekly podcast? Or, is the blog sufficient without the need for yet more of my ramblings?

Wednesday, December 28, 2011

Time Vortex

My wife tells me that I must exist within some sort of time vortex. When I estimate something will take an hour, it inevitably requires at least two. Yet, from my perspective, it seems only the anticipated hour has elapsed. I'll be working at my computer, certain a television show I planned to watch is about to start and my wife is left to explain that the show ended an hour ago. And that's nothing compared to my mornings.

No matter how early I wake and no matter how carefully I plan, most days require a two hour warm up period, at least. It is the rare morning when I am ready to work or leave the house before 9 a.m. — and far more likely that I won't start functioning normally before 10 a.m. When I do rush to leave early, I end up spending time feeling ill at work. No matter my intentions, my body rebels for two hours and I must submit to its terms.

Once I'm working, I lose track of time. What seem to be minutes are often hours, as I've already explained. That's not a bad thing, since nothing would be worse than a slow, ponderous work day. However, I'm often left wishing there were twice as many hours in a day.

At night, I often have as much difficulty falling asleep as I do waking in the morning. I find myself drifting in and out of a light sleep for several hours. Some nights I give up and work or write, much as I am doing at this moment. It is as if my body clock is off by four or five hours.

I've adapted to my personal time vortex by trying to be extra early. Though I seldom manage to be as early as intended, the effort at least keeps me closer to on time.

Even when I've taught morning classes, I have managed to be on time. Often, barely on time, but that didn't matter because shared classrooms mean waiting for the previous class and instructor to exit before entering the room. For the last year in Minnesota and during my first year at my new campus, I scheduled "office hours" for the two hours before class. That's one way to never be late to class.

I'd love to know where the lost minutes and hours go. It would be nice to have some of them stored away for days with too many deadlines.

Monday, December 26, 2011

Distracted by Everything

I get distracted easily. While I prefer to think of it as a curious mind eager to learn, the truth is that I end up following tangents that consume hours.

I'll be reading something for work and encounter some little factoid that demands exploration. The next thing I know, an hour has been lost to reading about the history of Amish quilt designs. There's nothing too obscure or too mundane; every bit of information leads to a dozen more bits.

My wife and I share a passion for information and often watch History, Discovery, Science, and the other educational cable networks. While watching, I'll sit with my laptop and search for the sources they cite. My wife will do the same, especially while watching the Food Network.

It isn't a problem to follow tangents while watching television or reading for enjoyment. It is a problem when you can't resist the tangents while working. And… I can seldom resist.

The mix of Google Bookmarks, Safari's Reading List, and the wonderful "Save As Webarchive" feature have allowed me to save some articles for later reading, but it is still difficult to set something aside for later. I have a folder on my each of my computer systems named "Research" with more than a dozen categories within that folder. At the moment, there are 1,175 items in the folders (1.12 gigabytes of data). There's more, but those files are in other research folders for current projects.

This weekend, I'm working on a report for the university. The research leads me in dozens of different directions. Inevitably, I spend an hour here and an hour there off on those tangents. While working on a proposal for writing courses, I find myself reading about online education, the psychology of writers, and trends in technical communication.

Instead of skimming university course catalogs, I end up reading the detailed course descriptions and visiting writing program websites. The courses sound so interesting, I am compelled to read the syllabi and then research yet more. The right approach is to skim, take notes, and move on with my work. But, I love information.

A class on medical rhetoric? Of course I'm going to save the reading list and start researching the topic. Oh, and who wouldn't be interested in the rhetoric of physics? Yes, there is such a thing. As a fan of the Science Channel and Prof. Michio Kaku, how could I not wonder what the reading list for a course called "The Rhetoric of Physics" includes? Science is a series of ongoing debates.

Maybe you can understand my problem. There's so much information out there, so much knowledge to attempt to grasp, and I want to learn everything.

Even as I write this, I'm pondering a half-dozen or more things I'd like to research about research tools. Which web bookmarking tools are best? What's the best way to grab articles for later reading? Is my research properly organized?

At least my wife loves learning as much as I do. She's also compulsive at organizing data and information.

Saturday, December 24, 2011

Christmas Thoughts

To all our readers, we wish you all the best this Christmas.

We've had a quiet week and plan to have a quiet, relaxing Christmas Day at home with our little furry kids. I like simple Christmases, which are what we have had for several years now.

Living 2538 miles from "home" (according to Google Maps) means we don't have family gatherings to attend. There's no pressure to make the rounds from house to house. While I love my family, it's nice to have no pressure on us to be everywhere and see everyone over the two days of Christmas Eve and Christmas.

Also, we don't do parties or big social events. We attended one small gathering, and that was it. It wasn't easy for me, but it was at the home of two friends to whom we owe much. It was a nice gathering, with nice people. Plus, it was quiet. I like quiet.

We did make a few trips to local stores, a nearby mall, and into Ohio briefly for some craft supplies and other errands. The mall was surprisingly nice, with crowds but not so many people you couldn't move or shop in comfort. We even ate dinner on Tuesday at the mall and half the restaurant was dark.

There's no snow on the ground (a huge plus, to me), but a little fog and misting rain. The weather this week reminds me of home, too.

We watched movies tonight, Christmas Eve, and had our traditional Tex-Mex dinner of enchiladas, rice, and beans. It was perfect.

It's wonderful to spend some quiet time with my wife and our kids. That is the perfect holiday.

Monday, December 12, 2011

End of Semester Rush

I created a schedule for myself — technically my wife created it with/for me — so I would post to each of the blogs I either author or co-author on a weekly basis. But, this is that crunch time known as "finals" at universities. It's also the holiday season and several other things all at once.

I've read that everyone gets a bit stressed at the end of the year. We have Christmas, New Years, family gatherings, and there's the simple reflection on another year passing us by. The years seem to race on by as you get a bit older, too.

The schedule means I might not get the blogs updated as often as readers might enjoy. For that, I do apologize. It's nice to know people recognized I was offline here and elsewhere (Twitter, Facebook).

Grading will be a frenzy this coming weekend, so I might still be offline much of the time. I am hoping that after a year or two in the new post and in a new region I'll have adopted a better routine.

Also, someone asked me why I don't write with the same dry wit I exhibit when speaking. I've mentioned before that I don't try to have any wit — I merely state things as I see them.

It does make sense to try to be a bit more "entertaining" in the coming year. Maybe that's a "Resolution" to write more and about more topics.

For now, I just wanted to leave a note letting readers know I'm here and working. Lots of working happening.