Starting January 5, 2009, voting for the 2008 Weblog Awards begins—–and this blog, which I’ve been writing since April of 2006, is among the finalists for best Medical/Health Issues Blog. I’m included in some good company, including Respectful Insolence—-The Differetial—-Junk Food Science—-Stirrup Queen.

Thanks to everyone for reading Autism Vox, writing in, sounding off—-it’s been a great year and onward into a new one (very very soon!).

If Charlie’d had a younger sibling, would we have decided to participate in studies like this one at the University of Washington, as noted in the Seattle Post-Intelligencer:

Autism researchers at the University of Washington are seeking parents who will allow them to do brain scans of their infants.

………….

The UW scientists are looking for 84 six-month-old infants from California, Oregon, Washington, Montana, Idaho, Nevada and Alaska who have an older sibling who has been diagnosed with autism. They also need 34 infants with typically developing older brothers or sisters.

Each child will be scanned three times over two years.

Certainly I would have considered having a sibling of Charlie’s participate in such a study—-and then, after reading (wading) through so many studies, so much research, about or said to be related to autism over the years—-sometimes one wonders a bit about where it’s all going.

Some research from June: Are low birth weights and preterm births risk factors for autism? Does autism present diffrently in girls and women?

June was, too, the month that a certain female celebrity led, along with some others, a rally about “vaccine safety” in Washington, D.C.. Questions swirled about the extent to which said celebrity’s own child is recovered or not, or undiagnosed—-and perhaps this sort of discussion is beside the point, especially if you consider the notion of neurodiversity, according to which, just as we’ve come to understand that there’s diversity in terms of race, ethnicity, and gender, so we’re also starting to learn to think of diversity in terms of different ways of thinking, of different minds.

Autistic Self-Advocacy Network President Ari Ne’eman and I were interviewed for a Good Morning America segment on neurodiversity in early June—-a show which provoked quite a bit of discussion.

An autistic child was removed from an American Eagle flight in late June and, in July, a family with four children, one with autism and one with cerebral palsy, was told they were “too disruptive” to continue on a connecting flight from Phoenix to Seattle.

The NIMH put a study on chelation on hold, leading to considerations of whether the study should just be done to prove the efficacy, or lack thereof, of this alternative, and dangerous, treatment for autism. —–Another new diagnostic technique looked at whether one looks at the mouth or eyes of a person’s face. —- And findings about the rates of autism in Somali children in Minneapolis led to a lot of speculation and fears of some external “thing” causing such an increase. — Talk show host Micahel Savage launched a thousandfold of ire towards him for some, indeed, savage comments about autistic children and their parents.

Bringing the focus back to what we can do for autistic individuals in the here and now, it was reported that restraints are being used more and more in public schools

With the advent of summer, Jim and Charlie began another summer of bike rides, with Charlie more and more taking the lead and Jim devising newer, and longer courses. And July and the 4th of the month prompted more thoughts on the meaning of independence and also about why I don’t hold Charlie’s hand anymore (well, most of the time).

And please remember, with flowers and swings, Evan Kamida.

It’s the countdown to the end of 2008 and here is some of what was going on at the beginning of the year:

The trial of Dr. Karen McCarron began on January 7th. On January 16th, McCarron was ruled guilty on all counts. On April 1st, she was sentenced to 36 years in prison for the May 13th suffocation of her then 3-year-old daughter, Katherine “Katie” McCarron.

January also saw the publication of further evidence refuting a link between vaccines and autism, with the publication in the Archives of General Psychiatry on the decline in thimerosal exposure and the continue increase of autism rates. A study in Pediatrics offered further proof that the vaccine-autism hypothesis is a hypothesis. The study showed that ethyl mercury is expelled faster from babies’ bodies than thought, and that there is “…..little chance for a progressive building up of the toxic metal.”

Nonetheless, a new legal drama, Eli Stone, based its first episode around a (highly fictional) case involving a child becoming autistic due to a vaccine. (And what celebrities have to say about science was a constant irritant throughout the year.)

Also, new research on genetics (on chromosome 16 and a test for autism) appeared in January, and throughout the year, with one scientist proposing a unified theory of autism.

So says Ellen Raphael, UK director of Sense About Science, regarding the “bad science tips” made by various celebrities and public figures (from Tom Cruise on psychiatry to, yes, President-Elect Barack Obama on vaccines and autism).

Here’s hoping that they’ll all take a New Year’s resolution to do a little fact-checking, or at least web-surfing, before offering those tips in 2009.

Seems a pity that, on seeing the words “top 10 unfounded health scares,” the first thing I thought about was……….vaccines and autism.

Many speak of a “debate” about an alleged vaccine-autism link and that there’s a “controversy” brewing here, but it’s a false controversy. 2008 saw the publication of more studies refuting a link, and yet there’s been a call for more studies—-among the $1 billion in research initiatives noted in the Strategic Plan of the IACC is an item about the “different health outcomes in vaccinated, unvaccinated and alternatively-vaccinated groups”—so it’s not as if this particular topic is going to go away.

Sometimes, one starts to wonder, will this particular topic ever go away? How many studies will it take to convince those who believe so very much that there is a link, that there really isn’t one?

Of the 3,393 or so posts I’ve written here, hundreds and hundreds and hundreds have been on vaccines. In the course of writing those posts, and reading about vaccines, about autism, about vaccines and autism, and about what people think about vaccines and autism and about why people think there’s a connection between their child becoming autistic and vaccines, the one thing I’ve mostly been left with is a sense of need—-a sense of needing to know—-of searching for the one answer about why and how this happened—-of needing to do the right thing. In an age when every single step of child rearing, from pre-conception to pregnancy, from labor to birth, from infancy to the first birthday to toddlerhood, from preschool to elementary school to hitting the double digits (10 years old!) to (gasp) adolescence, is not only scrutinized—-is written about in books, magazines, and websites galore, parents seem more and more haunted by the need to get it right.

And when one’s child is disabled, that need seems only to get compounded, as parents (myself included) seek “the best,” or the “most appropriate,” or the “highest quality” services, teachers, therapists, and programs for their child. As much as you know—as I know—that you and I did everything we should and could have done for our child, still that worry nags and lingers, that maybe you and I could have done something different. On the one hand, I’ve gotten pretty good at ignoring stares from strangers; on the other hand, there’s always an unspoken fear that maybe I am doing something wrong; that I’m a bad parent. Why else did those “autism is just another excuse for rotten parenting of rotten kids” remarks by Michael Savage and Denis Leary earlier this year strike such a note earlier this year?

What if we really are such bad parents; what if the likes of Savage and Leary are right?

And it’s that voice-in-the-back-one one’s mind, it’s that twinge, that “maybe” that has something to do with why, scientific evidence to the contrary, the notion that vaccines are somehow linked to autism just won’t die.

So here’s a possible resolution for the new year: How can we detox ourselves from talking about the hypothetical vaccine-autism “link”?

So, you’re reaching for the eggnog or another piece of gingerbread and Great Uncle W says to you, “Now what is all this I hear about autism and vaccines?”

Or, some friendly step-relatives happens to end up next to you while the Christmas carol sheets are being handed out and, just as you’re trying to sneak out of the chair to sit by your child who already has his hands over your ears while your musician second cousin starts playing something from Jersey Boys on the piano to expressions of delight, said step-relative says, with a concerned smile, “Does he have this thing called sensitive-processor disorder too? A friend says her nephew has it.”

Now don’t get me wrong. After the initial incredulity that Charlie “had” something, my extended (and not small) family has made it a point to reach out and include Charlie. Considering that a frequent family activity is “getting together in someone’s house or an economically priced restaurant in Oakland Chinatown,” and a certain amount of conversation is about the food we ate last time we met, the food we’re eating, and the food we’re going to eat (say, when we get together for dinner……..that night), Charlie is quite in his element and certainly knows how to work the lazy Susan.

Lest eating numerous Chinese meals (ok, sometimes we “go American” and eat sandwiches) in various settings with various combinations of relatives seems boring and repetitive to you, I can see how, if we lived in California, this would provide Charlie with constant opportunities for interactions with the same (more or less) people. I was a picky eater as a child, so I suspect my family watches Charlie’s hearty eating with some equally hearty approval (and I think he’s started on another growth spurt—-he spent most of a snow day last Friday and the weekend sleeping, and I just realized the sleeves of his coat ride up when he raises his arms). It’s true, Charlie doesn’t run off to hang with my cousins’ kids, but he does like to be in the same room or nearby them, with Jim or me or my parents around.

Mostly my relatives like to hear what’s going for Charlie at school and someone inevitably says that “X who they know has a child with autism,” and various therapies get listed. One side of my family being quite up-to-date regarding technology and TV, should anyone mention that December 11th The Doctors episode on which DAN! doctor Jay Gordon I am grateful to have checked in with Orac at Respectful Insolence’s thorough working over of supernova stupidity:

What’s really annoying about this episode is that, mixed in with some accurate information is a bunch of infuriating false “balance” and Dr. Gordon’s antivaccine stylings. The parents (Dan and Lori) featured in the segment have seven children, with another one on the way, and four of their children are autistic. I don’t know about you, but to me that fact alone would strongly suggest a genetic component, but naturally these parents blame vaccines for their children’s autism.

As Orac concludes, “the one thing that The Doctors demonstrates beyond a shadow of a doubt is that having physicians involved in the making of a show about medicine and medical controversies is no guarantee that the resulting show will be science-based”—-indeed, the resulting show will be TV medicine or science, Hollywood style, and, as noted when the comedic legal drama Eli Stone aired back in January of this year, the whole “child becomes autistic after receiving a vaccine and some professional [legal in Eli Stone; medical in The Doctors] proves there’s gotta be a link” gambit can fit very well in the allotted hour, with some commercial breaks allowed for. The idea that vaccines can be linked to autism is readily explained as a simple matter of cause and effect, plus you can insert, to good effect, a few shots of those needles and those mysterious vials that have had who knows what injected into them by some unknowing pharm tech.

So yes, I am feeling prepared to address any “but what about those vaccine” questions—-and the sensory stuff—-and, if no one’s rushing off to take a turn at Guitar Hero, am glad to speak to genetics and the fact that autism really is a family thing.

That’s how autism is referred to in a  story in yesterday’s Philadelphia Examiner about “assembling your medical team” including osteopathic physicians. There’s mention of finding “relief from autism” via homeopathic methods, and autism is discussed as if it were a disease like cancer—which autism is indeed not.

And no, after 11-plus years raising my autistic son, no way do I feel that it’s been some “horror” I wish to run away from, or that I ever need “relief from autism.” Sure I do (as one new story today puts it) “worry about everything,” but, really, it’s all better with Charlie.

Discussion continues about autism legislation, and is going to continue here in the US under a new administration. One piece of federal autism legislation that has been passed here is the 2006 Combating Autism Act (CAA), under which the Interagency Autism Coordinating Committee (IACC) was charged to create a Strategic Plan for research in autism spectrum disorders. (Regarding how the CAA was voted on and passed, and on its unfortunate name, go here.)

Over the past year-plus, the IACC has been developing a draft of the Strategic Plan. This draft was reviewed at the IACC’s November 21st meeting and, as review of the plan was not completed, the IACC met again on December 12th to continue review of the draft Strategic Plan and, per the agenda, to discuss cost estimates.

The IACC will be meeting next on January 14th (and go here for how to listen in virtually, via the web or conference call). This meeting will be to continue the review of the draft Strategic Plan, and to make budget recommendations and finalize the plan.  There’s a report about the December 12th meeting on the Autism Speaks website which notes that 38 research initiatives were approved, and that the budget for these will exceed the amounts authorized by the CAA in a certain period of years. The IACC Strategic Plan recommends that more than $1 billion be spent on research objectives.

I was able to listen to some but not to all of the December 12th meeting. Autism Speaks lists 10 of the 38 research objectives, which include (with my commentary on some initiatives and some emphases in italics)

Develop at least one new diagnostic instrument (briefer, less time intensive); [Interesting I think, recalling the two-day-plus process---ordeal---of having Charlie evaluated by a diagnostic team in Minneapolis; might something get missed, though, if the process is hurried up too much?]

Validate a panel of biomarkers that separately, or in combination of behavioral measures, accurately identify, one or more subtypes of children at risk for developing ASD; [At the November 21st and December 12th meetings, some members of the IACC brought up the need for such "biomarkers" repeatedly, as well as the notion of "subtypes" of children who be "at risk" or susceptible to being diagnosed with autism.]

Establish an international network of brain and other tissue acquisition sites with standardized protocols;

Complete a large-scale, multi-disciplinary, collaborative project that longitudinally and comprehensively examines how the biological, clinical and developmental profiles of children, youths and adults with ASD change over time compared to typically developing individuals by 2020;

Coordinate and implement the inclusion of approximately 20,000 subjects for genome-wide association studies, as well as a sample of 1,200 sequencing studies to examine more than 50 candidate genes by 2011;

Study the effect of vaccines, vaccine components and multiple vaccine administration in autism causation and severity through a variety of approaches including cell and animal studies and understand whether and how certain subpopulations in humans may be more susceptible to adverse effects of vaccines; [Again, the mention of "subtypes" of individuals with certain susceptibilities, such as the so-to-speak "subpopulation of mitochondrial autism."]

Determine design and feasibility of addressing different health outcomes in vaccinated, unvaccinated and alternatively-vaccinated groups; [Yes, another mention of vaccines; this study being the long-called for study of various "health outcomes" in vaccinated vs. unvaccinated, and not "alternatively-vaccinated groups"---those vaccinated under an "alternate schedule"?]

Conduct a multi-site study of the subsequent pregnancies of 1000 women with a child with ASD to assess the impact of environmental factors by 2014; [Sounds like the UC Davis M.I.N.D. Institute MARBLES study.]

Standardize and validate at least 20 robust model systems (cellular and/or animal) that replicate features of ASD and will allow identification of specific molecular targets or neural circuits amenable to existing or new interventions; [But are "features of ASD" as seen in an animal (such as a mouse) model equivalent to features of ASD in human?]

Test the efficacy of 11 evidence-based services for people with ASD in community settings by 2015.[Would like to know about the what and where of these.]

And if the full $1 billion worth of research initiatives are not funded, what studies might be the first to be tabled…………….

“Restricted, repetitive, and stereotyped patterns of behavior, interests, and activities”—-these are noted in one of the DSM-IV criteria for Autism Spectrum Disorder. A study published in the December 10th Neuron has found that reducing the activity of the gene FKBP12 in the brains of mice affected their synapses, and increased obsessive behavior and “fearful memory.” As noted in today’s Science Daily:

The protein FKBP12 regulates several important cell signaling pathways, and decreasing its activity enhances long-term potentiation in the hippocampus, said Dr. Susan Hamilton, chair of molecular physiology and biophysics at [Baylow College of Medicine] and a senior author of the report. (Long-term potentiation means the enhancement of the synapse or communication between neurons.)

It accomplishes this by fine-tuning a particular pathway called mTOR signaling (mammalian target of rapamycin). The mice in whose brains the activity of the gene was reduced had longer memories and were more likely to exhibit repetitive behaviors than normal mice.

Researchers suggest that their findings might lead to the develop of drugs for autism and also for obsessive compulsive disorders.

Although—-what about the use of such repetitive actions to calm and self-soothe?

Earlier this year, reports that the US Federal Court of Claims had conceded that vaccines had contributed to the onset of autistic symptoms in the case of Hannah Poling led to much speculation and debate about (1) if mitochondrial disorders could be linked to autism and (2) how common mitochondrial disorders might be among autistic children. A number of experts on mitonchondrial disorders met in June to discuss the “controversial case” of Hannah Poling. An article in the November 26th PLoS One entitled Mitochondrial Disease in Autism Spectrum Disorder Patients: A Cohort Analysis investigates the medical records of 25 patients with a primary diagnosis of ASD by DSM-IV-TR criteria. These children were later determined to have “enzyme- or mutation-defined mitochondrial electron transport chain (ETC) dysfunction”; of these, 24 had “one or more major clinical abnormalities uncommon in idiopathic autism” and 21 had “histories of significant non-neurological medical problems.”

“Idiopathic autism” has “become somewhat of a catch-all phrase where a cause, most often genetic, is unknown,” according to the Not Mercury blog. The “non-neurological medical problems” noted in 21 of the 25 participants in the PLoS One  study were primarily gastroinesstinal dysfunction; some also had “pancreatic dysfunction or liver disease–gastrointestinal disorders that are rare in persons with ASD.” Indeed, the authors later state that “non-neurological disorders were nearly universal in our patients.” Also noted was an “increased frequency of prenatal and perinatal complications ….. in children with ASD” and a “high frequency of multiple gestation births.” And, while autism spectrum disorders are diagnosed at a much higher rate in males than in females, in the cohort studied in the PLoS One article, there was an equal number of males and females. In regard to a link between vaccines and mitochondrial disorders, only one of the 25 participants was reported as having “autism/neurodevelopmental deterioration appeared [following] vaccination,” but “such timing does not prove causation.”

Among the conclusions of the researchers was that “careful clinical and biochemical assessment identified clinical findings” in the 25 participants that differentiated them from children with idiopathic autism; accordingly, it is possible that a “disturbance of mitochondrial energy production as an underlying pathophysiological mechanism” might be found in a “subset” of autistic individuals. How common, indeed, are mitochondrial disorders among autistic individuals—are they widely prevalent or a subpopulation? Journalist David Kirby writes about the study in the Huffington Post and seeks to argue that they are not so rare.

Much of the energy fueling the past several months’ discussion about mitochondrial disorders and autism has stemmed from an ongoing interest in identifying a biological cause for autism. The researchers of the PLoS One article note that they found “diverse and complex developmental, neurological, and medical phenotypes of persons with mitochondrial autism”:

Although many children with ASD exhibit some degree of hypotonia, most attain their early gross motor milestones on time. In contrast, 64% of our patients were delayed in attaining early developmental milestones and 32% were five or more standard deviations later than the mean in walking independently. In addition, although regression has been reported to occur in approximately one third of autistic children, typically before age three years, 40% of our patients demonstrated unusual patterns of regression–either repeated regressions, regressions involving losses of gross motor function, and/or regressions after age three years.

I note this mention of hypotonia—decreased muscle tone—and regression. In accounts of the onset of autistic symptoms in Hannah Poling, it was noted that she “refused to walk” and that she “lost her ability to speak” and showed other signs of regression in her development. On a more personal note, my son Charlie was very delayed in meeting all of his gross motor milestones as an infant and toddler. He rolled over, sat up, and walked late—he was 15 months when he was able to walk. He never “regressed” as he often seemed to take a very long time to acquire skills that other children his age had long had. Charlie was often said to be hypotonic when he was younger.

I have to say “was” because it’s been a long time since I heard the word used in reference to Charlie. Charlie learned to swim at 6, around the same time that Jim got him going on his bike (with and soon without training wheels, Jim soon had Charlie pedaling all over the sidewalks and then into the street). Charlie walks for miles with us now, and bikes for even more, and probably would swim for miles in the ocean, if we let him (no we are not). Friday afternoon he pedaled so fast that Jim could barely keep up with him at some moments. Hypotonic no more, Charlie’s in shape.

The authors of the PLoS One study conclude:

Overall, our results demonstrate substantial clinical heterogeneity of individuals with co-occurring autism and defects of mitochondrial oxidative phosphorylation, nearly all of whom we found to be clinically distinct from children with idiopathic autism. The data do not exclude the possibility of persons with isolated autism having a disorder of oxidative phosphorylation–in fact, one of our patients did not have any major clinical features that distinguished her from typical autism. In addition, it is possible, if not likely, that a still broader clinical, biochemical and genetic spectrum of mitochondrial autism exists.

………………The data reported here, and other cases of mitochondrial autism, argue that defective mitochondrial oxidative phosphorylation is an additional pathogenetic basis for a subset of individuals with autism.

The reasons that children may have “co-occurring autism and defects of mitochondrial oxidative phosphorylation” arise from a number of varying causes and much more–”a still broader clinical, biochemical and genetic spectrum of mitochondrial autism”—remains to be explored. It’s suggested that such cases of mitochondrial autism are a “subset,” whose size remains to be determined.