The "Raising Arizona" theory of autism?

A new study using new imaging techniques has discovered missing and/or extra pieces of DNA in cases of autism where the disorder cannot be genetically traced to the parents. Strangely, I couldn't find this article in the online version of Science Magazine. I'd like to read the study before I draw any conclusions from it, but it sounds as if it might give some support to my personal theory that there are different causes for autism, some genetic, some possibly not. This blurb makes it sounds as if the authors concluded that the DNA quirks arose spontaneously in the father's semen or the mother's egg, soemthing that sounds, well, quirky. I'd have to see that spelled out. It reminds me of that character in "Raising Arizona" who couldn't sire children because of his bad semen. In any event, that seems to beg the question what caused the DNA anomalies, whether they arose in the parents' reproductive material or in the children themselves. That the question is begged would seem to lend support to the theories that some cases of autism have environmental causations:

New Gene Mutations Linked to Autism
By Erik Stokstad
ScienceNOW Daily News
16 March 2007

Autism has been a frustrating puzzle for geneticists. Searching for genes involved in the disorder, they have focused mainly on the 10% of cases that seem to be inherited. Now a group has made progress toward figuring out what goes wrong in the other 90%, the so-called sporadic cases.

Led by Jonathan Sebat of Cold Spring Harbor Laboratory in New York, the team looked at DNA from 264 families. Using a variety of techniques, the researchers scanned the genetic material for so-called copy number variants, in which relatively long stretches of DNA are lost or gained. Sebat and colleagues found these defects in about 1% of the 196 people without autism they tested. The rate was 10-fold higher among 112 sporadic cases (people who were the only ones in their families with autism). In contrast, copy number variants turned up in just 2% of 47 families with multiple cases of apparently inherited autism, the team reports today in Science. When the researchers further tested the families with a single case, they found that the parents did not have the mutation, suggesting that the mutations were not inherited but had arisen spontaneously in mom's egg or dad's sperm.

Sebat estimates that at least 15% of cases of autism and closely related disorders are due to these kinds of mutations. And he expects that fraction to rise considerably when the team continues the research on more families and with more sensitive DNA probes--work that will also help pin down the genes involved. "Increasing our resolution and sample size is going to give us a better idea of where the major players are," he says.

In the meantime, the finding could be useful for parents with an autistic child who worry that the disorder is inherited in their family and that future children will also be autistic. "If a [spontaneous] deletion is identified, the recurrence risk seems greatly reduced," says Linda Brzustowicz of Rutgers University in New Jersey.

Edited to add: Thanks to gentle reader Ros, Ph.D., I have paroused a copy of the report. It looks like good research to me, and, as I said previously, raises questions about what might cause spontaneous deletions. I wonder whether hospital genetics departments will obtain the imaging technology to conduct these tests when a child is diagnosed with autism so that parents can make informed decisions on how to proceed with future procreation. Probably not.

On a personal note, we went in for genetic counseling after our first son was diagnosed but before the second son was diagnosed. The doc told us that we had a 5% chance of our second child having autism (he does) and a 10-12% chance of any third child having the disorder. I joked afterwards that "genetic counseling" is a euphamism for "get yourself fixed," which is what I did shortly after our second autism diagnosis. It seemed like it would be irresponsible and unfair to create another life knowing in advance there was a very good chance that the child would be born with a potentially lifelong, severe disability.

Family gathering?

Apoligies to gentle reader Bill, but this is what I feared would happen last weekend at our Utah gathering:



I love DW's family and all (and my own family-of-origin collectively is batshit crazy), but I was on my guard to keep DW from getting sucked--or jumping--into any controversies that might have arisen. Fortunately, none did, so I had myself a "whew!" glass of Cutthroat Ale at the hotel bar last Saturday night, where I was busted by two brothers-in-law in search of late night chicken wings. Oops.

Sadly, "Rome" comes to an end tonight:



I've always loved historical fiction, and "Rome" has done that on a grand scale--so grand that TPTB had to pull the plug on it. It's probably for the best--the BBC's "I, Claudius" covers the post-Augustus period. As I mentioned in an earlier post, there are many what-ifs during the period covered in the show, but I suppose the biggest what-if of all is the question how western civilization would have been different but for the ultimate triumph of the boy wonder and his establishment of the Roman Empire. Rome obviously had a powerful cultural influence on the nations that later formed in the imperial territories, and the commercial/trading system that developed undoubtedly facilitated the spread of a certain tiny religious sect from Palestine into the West, despite fierce persecution early on from the Romans themselves.

Edited to add--the final episode was okay, but one thing messed it up for me. How the hell did Pullo get the dying Vorenus all the way from Egypt to Rome in that little cart before Vorenus, you know, bled to death? That was utterly ridiculous. I loved the way they handled the Antony & Cleopatra suicides. IIRC, they killed themselves about 12 days apart, and Cleopatra did negotiate with Octavian until she realized that he intended to have her dragged through the streets of Rome like a bag of potatoes. I loved Maecenas's snarky line to Octavian after Cleopatra's suicide: "you have that effect on people." Hee!

Weekend blues

Damn, I got hit by the depression stick this morning, and I'm still feeling the effects. At the grocery store a few minutes ago, my limbs felt like they were made of cast iron, and it was mildly painful to move around. That's a sure sign that what I've been feeling in my head all day isn't just fatigue. I suppose I was due for a good thwacking. Nevertheless, I've felt much better the past few months overall, though those damn middle-age issues keep popping up . . .

Zodiac, or, The Truth--is it really worth it?

Have you ever been so obsessed with discovering the capital-t Truth that you can't leave it alone, no matter what the consequences may be? Then, just as you think you've finally discovered the Truth, it a) gets away from you; b) is too scary to take on directly; or c) really wasn't worth the damage cased by the process of getting to it. Moreover, as the New Yorker's David Denby pointed out, the real end of an obsession is the obsession itself, and not the end it is ostensibly aiming to achieve. Those themes and subthemes set David Fincher's "Zodiac" apart from other procedural crime dramas, and brought up questions about some of my own, personal quests for the proverbial holy grail.

There is shockingly little actual violence in "Zodiac," seeing as how it's a movie about a notorious serial killer, the Zodiac, who terrorized the San Francisco Bay area in the late 1960s and early 1970s. But I didn't miss the bloodied, mangled corpses. The drama in the movie occurs mostly inside the SFPD and the SF Chronicle newspaper, and, to a lesser extent, police departments in outlying areas. But the real drama occurs inside the heads of Chronicle cartoonist Robert Graysmith (Jake Gyllenhaal), SFPD Detective Dave Toschi (Mark Ruffalo), and, to a lesser extent, Chronicle reporter Paul Avery (Robert Downey, Jr.). Graysmith wouldn't let the unsolved case die after the police departements moved onto other things, and he wrote the two books on which the movie is based. The case is officially unsolved, though Graysmith put together a pretty strong circumstantial case against a particular guy who died in 1992. The SFPD deactivated its Zodiac investigation in 2004, so it looks as though we'll never really know for sure.

That's the factual account. Gyllenhaal is brilliant with the psychological material. His Graysmith character moves from a groupie, trying to worm his way into discussions of the letters that arrived at the newspaper offices, to a throroughly obsessed madman, with boxes of files in his house and charts hanging on the wall. His wife (played by the fabulous Chloe Sevigny of "Big Love") left him over his obsession, after he endangered his family by announcing his plan to write a book in the newspaper and on television, and after he got his children involved in Zodiac-related activities. He comes off more as a geeky, obsessed, self-absorbed nut than as a dedicated crusader for truth. Mark Ruffalo is a little more low-key as the kind of "I hate to admit it, but I'm almost as obsessed as he is" Detective Toschi. Ruffalo's performance was understated, I suppose so that Gyllenhaal's charater's nuttiness would stand out. However, Robert Downey, Jr., is still a scene-stealer, and he steals his scenes in this movie, as the flambuoyant, alcoholic reporter who wrote most of the early Zodiac stories.

This is a very good movie, and I wouldn't be surprised to see a few Oscar nominations coming out of it.

Conspiracy Theorist

Now the Mayor appears to be blaming a racist conspiracy for the slow pace of New Orleans' recovery.

The slow pace of New Orleans' post-Katrina recovery is part of a plan to change the city's racial makeup, Mayor Ray Nagin told a national newspaper publishers' group last week.
. . . .
"Ladies and gentlemen, what happened in New Orleans could happen anywhere," Nagin told the association. "They are studying this model of natural disasters, dispersing the community and changing the electoral process in that community."

Read the rest here.

The Times-Pic's columnists aren't buying Nagin's latest bizarre comments. They seem to think that ineptitude on the state and local levels has much to do with the sluggish recovery. Check those columnists out here and here.

Utah Wedding Epic

My recent trip out west had a vaguely Eastern flavor to it, beginning over Provo, Utah, when I noticed the members of the family across the aisle craning their necks to view the campus of BYU from the air. I placed my hands in gassho and bowed to Happy Valley in a little salute. DW thought it was mildly funny, so the gassho/bow thing was a little joke of mine the whole trip; it's not something I do regularly, as there's a certain pretentious quality about using the zen gesture of respect in public these days, and, to quote Fawlty Towers, "pretentious? moi?" Anyhow, it seemed like it might be fun to write about gentle reader Bill's wedding to his amazingly gracious K. as a travelogue in the style of Matsuo Basho's "Narrow Road to the Interior," mixing narrative and poetry. Actually, I was bored on the flight home and decided to try my hand at haiku once again--and Basho I ain't.

DW and I arrived in Utah on Thursday and had dinner with gentle reader Jeremy.

asian flavor--yum!
good conversation; nothing
more clever to say

Friday afternoon, we made our way to the reception, which was held the night before the wedding.

reversed order? just
how radical dothey get
at this country club?

Saturday afternoon saw the big event itself. DW and I made our way from the hotel to Temple Square, evidently as the ceremony was getting underway. I am thoroughly unqualified to enter the temple itself, so we missed the sealing ceremony. It was fun walking around the grounds, watching the necessarily organized chaos of Saturday weddings at the Salt Lake Temple. I also noticed, for the first time, that Temple Square has some pretty funky landscaping. Evidently, one of my MIL's distant relatives was a landscape architect there way back when, and he made a point of importing interesting plants that could thrive in Utah.

cold stone edifice
golden angel watching o'er--
playing on the grass

Everywhere we looked, there were wedding parties, having pictures taken or waiting to have pictures taken. Speaking from personal experience, I can safely say that the bride and groom have more than pictures on their minds.

soon-to-be lovers
every staircase, photographs
anticipation

DW was appalled at what she saw as lowered dress standards for Mormon weddings. There was a gal in a very off-white dress that would have been verboten back when we were wed. Hilariously, there was a group of 20-something women seated outside the Temple, ample cleavage on display. One bystander broke out laughing when I blurted out, "well, it's certainly a more liberal Mormon Church than I remember!"

different wedding
different staircase, not ours
bridesmaids showing boobs

my wife, scandalized
told me to look; no, really!
implants on parade

Alas, no photographs.

After pictures, I hauled DW and one of her sisters-in-law to WalMart to purchase the fixings for a goody basket for the happy couple. We made it back to downtown Salt Lake just in time for the wedding dinner, inside the LDS Church's Joesph Smith Memorial Building. After the dinner, we took a stroll around the Main Street Plaza, which was controversial a few years ago because of some very bad lawyering on the part of the City and the Church. The legal issue was resolved, but the controversy brought up the long-standing tension between the Church and non-Mormon interests in Utah. I posed on the edge of a fountain.

We enjoyed our trip and, again, Puddle of Nothing extends congratulations to gentle reader Bill.

Identity crisis

This quiz about how I speak contradicts the last one I took. Perhaps not--there are quite a few Southern phrases in my speech (e.g., I used to say "I'm fixin' to . . ." deliberately, but "y'all" just slips out), whether or not I have much of an accent:

Your Linguistic Profile:

45% General American English

30% Dixie

15% Yankee

5% Upper Midwestern

0% Midwestern

What Kind of American English Do You Speak?

Indulgent parenting?

I had to wonder this past weekend whether I've been overly indulgent with my kids over the years. A. and T. both threw tantrums when things didn't go just as they wanted, and I always wonder how much of that is autism and how much is just bad juvenile behavior. I can understand how T. was pissed off that his Alexandria routine was changed due to our exigent circumstances--kids with autism tend to be very rigid about their routines--but his explosion inside Target about not buying french fries before going to the store struck me as just plain bad behavior. We always go to the store first. But it could be that he was angry that it was the Alexandria Target and not the Slidell one, where he now likes to shop for swimsuits for trips to the beach. Again, that would be bad behavior, not necessarily autistic behavior. It's always hard to tell.

I can't say that there aren't parenting manuals for people in my situation; there are some pretty good behavioral psychology texts out there. However, I pretty much decided to put those aside for a while after a brief, painful, terribly failed attempt to get applied behavior analysis (ABA) underway with T. I pushed for help with the formal educational programming from the school system and the state disabilities system, with mixed results. The schools took a while, but they finally got on the same page with us, and our kids had a couple of good years at school. However, as to an in-home behavior program, the state people managed to piss on everything we had going on with our kids, even the things that were working. I had to restrain myself from overturning a conference table at our last meeting with those people, but I digress.

My instincts told me that T. and A. needed a parent/friend who would accept them unconditionally more than they needed a parent/behavior trainer who was determined to change everything about them. My reading, and my observations of my kids' interactions with other children, made it clear that they would have a very hard time forming friendships with their peers, so I made it part of my job to become their peer and to interact with them on their own level. I'm no flower-power, be your kids' best friend kinda guy, but it just seemed obvious that I needed to do that. I tried my hand at mild ABA techniques over the years, but never at the intensity that is recommended for success, as I pushed for systematic help with that kind of programming, which they are finally getting at St. Mary's, albeit in limited doses. My hope was that I could build a strong enough friendship bond with my children that could be used to pull them along developmentally.

I suppose that part of my instinct was a projection from my own childhood. It's a cliche that you model your parenting on you own parents, but I was determined not to do that. My dad never hid his disappointment in me for not being his idea of what a boy should be; I was, and I remain, determined that my children will never feel as though they are disappointments to me. Also, even before we had kids, I resolved that any kids of mine would be encouraged to develop their own individual personalities and interests, and that my function was to help them along the way. There would be no value judgments based on preconceived notions of what boys or girls should be. After the kids were diagnosed with developmental disabilities, I resolved that I would give them exposure to as many activities and experiences as possible, and that I would do whatever I could to help them enjoy their preferred activities, even if that meant jumping for joy at the sight of water pouring through the storm drain down the street. There have been many public tantrums, but, fortunately, most of the people around here are kindhearted and quick to size up the situation. It amazed me how people offered help when things were really, really bad, with the notable exception of a certain local congregation.

We've been told that our kids are unusually aware of each other and of us. They now play with each other on a regular basis, after several years of T. deliberately ignoring A. I hope that my conscious efforts had something to do with all of that.

However, friendship/parenting has its obvious drawbacks, the most obvious being an inherently mixed message about whether you are a playmate or a disciplinarian. It is damn difficult to be both. Additionally, in my role as friend/playmate, I have tended to take my kids wherever they want to go and to buy them way too much junk at the store. I've also overlooked more bad behavior than I probably should--behavior that sometimes has nothing to do with autism. Part of that was necessary to keep an always volatile, unpredictable home situation from exploding. I don't care what the strict behaviorists say, two kids with autism means that the kids get away with away with more than you'd like them to. That's just life.

Now that I can view some of this with a bit of perspective, I'm left wondering how to integrate something of a disciplinarian piece into the equation. I'm naturally very tolerant and indulgent with children to begin with, so it's not something that comes easy to me. I've been working on it, mostly with T., as he nears the horrors of puberty, so we'll see how it goes.

Poetry Thursday

About a week ago, I decided to try out Poetry Thursday, something I noticed on gentle reader Sideon's blog. This week's assignment was based on the color red, something I had a few disjointed ideas on, but, alas, wasn't able to put together. Also, I was a little depressed on Thursday, so writing about an un-depressed color like red didn't seem right.

We have A. at home this weekend. He woke us up at 2:00 a.m. today, which is very unusual for him. A few years ago, however, sleepless nights were routine for him, and your humble correspondent generally was "it."

One of the gentle readers of this space is getting married on March 17. This is one of the very finest people I know, so congratulations are in order. Your humble correspondent will be on-hand for most of the festivities. One problem--anybody who has ever seen my tie collection would know that all of them are hilariously inappropriate for the requested dress for photos at this event. If Craig the Filosopher is reading, he can vouch for me here. I wear really loud ties to compensate for my introverted personality--and because I happen to like them. I came home from Target last night with a tie that I thought might do, but DW questioned that. It's a funny problem to have, actually--a lawyer who cannot dress conservatively to save his life.

New blog subtitles?

Some friends--including some of the gentle readers of this space--directed your humble correspondent's attention to this fun title generator. I don't know which one to use as the subtitle for this blog:

1. The Objectification of Deviance and the Oral in Randy's Puddle of Nothing
2. Corpses as Objectification: Savaging Alien Autobiography in Randy's Puddle of Nothing
3. Poetics and Madwomen in Puddle of Nothing: Randy Deflowering Lesbian Violence
4. The Testicular Reclaiming The Bourgeois: Randy, Puddle of Nothing and Capital
5. The Outrage of Semiotics and the Bourgeois in Randy's Puddle of Nothing

Accent quiz, second time around

Last time I took this quiz, it said I sounded like someone from North Jersey. I told that to a friend who lives there, and he just laughed. This quiz will figure me out one of these days.

What American accent do you have? Your Result: The Inland North   You may think you speak "Standard English straight out of the dictionary" but when you step away from the Great Lakes you get asked annoying questions like "Are you from Wisconsin?" or "Are you from Chicago?" Chances are you call carbonated drinks "pop."
The Midland
The Northeast
Philadelphia
The South
The West
Boston
North Central
What American accent do you have? Quiz Created on GoToQuiz

Disappearing Louisiana

The New Orleans Times-Picayune has a scary series of articles this week about the rapid loss of wetlands in south Louisiana. According to the wetlands experts interviewed for the articles, it is possible to reverse the devastation of the past 75 years, but it will take time. If nothing is done, the open Gulf of Mexico will be right up against the levees on the southern end of the New Orleans metro area by the year 2020.

BTW, nobody mentions global warming as having anything to do with this problem. I thought I'd mention that in light of the announcement at the Oscars about how Hurricane Katrina brought home the need to do something about global warming. Not that global warming isn't problematic in its own right; it just has nothing to do with our vulnerability to storms.

King of Creepy

For my fellow "Rome" watchers--my oh my, what an icy, creepy reptile Octavian has become. Ewww! But the highlight of last night's episode had to be Servilia's spectacular public suicide outside of Atia's house, and Antony's "now THAT is an exit!" immediately thereafter was the line of the evening. There was some good dark humor in the ep., and Antony usually gets the best lines, even if he will end up dead at the end of the series.

Crummy Title; Good Movie

We saw the espionage drama "Breach" the other night, about FBI analyst Robert Hanssen, who spied for the Russians for 15 years or so of his 25-year FBI career. Hanssen led what must have been a tightly compartmentalized life--he was a fanatical Catholic, a mild sexual deviant, a counterintelligence wizard, and a traitor to his country. Those pieces don't fit together in any coherent fashion or form, and the movie makes no effort to explain the jarring incongruities in the man's life. In the end, it doesn't give any simple explanation as to why he took up spying for the former godless commies he denounced from his position as a devotee of the Opus Dei brand of Catholicism. DW said that there was a very simple explanation--he did it because he could. I suppose that's as good a reason as any, and, in real life, are there really simple explanations for many of our own inconsistencies and hypocricies?

Chris Cooper is awesome as the creepy Hanssen, and he plays all aspects of the character very convincingly. Ryan Phillippe is good as Eric O'Neill, the aspiring FBI analyst who was planted in Hanssen's make-work office; he was told that he was put there as part of an investigation into Hanssen's sexual deviancy. Only later was he told that his boss was suspected of treason. Laura Linney was kind of wasted as the head of the Hanssen investigation unit; a shame, as she is a good actress.