Some Thoughts About Autism Research

Charlie on his way out for an evening walk with his dad after a rainy afternoon (actually, it was still raining when they went out---that's what matching hooded sweatshirts are for)

The significance of Charlie standing by our front door, raring to go on an evening walk yesterday with Jim (it was raining; Charlie pulled on his hooded sweatshirt and handed Jim his) will be revealed towards the end of this post.

First.

A new study published in yesterday's Nature by researchers from the Autism Genome Project is the 'largest study [on the genetics of autism] to date.' 996 individuals on the autism spectrum of European ancestry were compared to 1287 individuals who do not have autism. While previous studies have looked at genetic variants, this study focused on 'rare, genic copy number variants' (CNVs) which affect only about 1% of the population. From The Great Beyond blog at Nature.com:

[Researchers] found that autistic people did not have more rare copy-number variants than those without the disorder, but their variants were more often found within genes rather than in the vast amount of DNA located between genes. Specifically, 20% more genes contained a rare copy-number variant in autistic participants in the study. And among genes previously linked to autism spectrum disorder or intellectual disability, 70% more of them contained a rare copy number variant. [my emphases]

As noted in a Time magazine article on the study, CNVs 'may include either missing copies or additional copies of genes; most genes have exactly two copies, one inherited from the mother and the other from the father.' The CNVs resulted from 'numerous de novo and inherited events'—that is, they sometimes occur spontaneously in children, and are sometimes inherited from their parents.  Further, from studying the genes showing the CNVs, researchers found four new genes (SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53–PTCHD1) that may be associated with autism.

The Great Beyond blog at Nature.com, the Time magazine article, an article about the study on US News & World Report, a press release from Autism Speaks, all also note potential actual applications of these findings, to develop 'novel treatments' by offering

shared targets for new drugs, so that even people whose autism has slightly different genetic or environmental causes may benefit from the same therapies. If the biology of the disorder converges on similar pathways in the body, a single treatment or therapy targeted at these pathways could hopefully treat a good proportion of cases. [Time magazine]


Geraldine Dawson, chief science officer for
Autism Speaks and a psychiatrist at University North Carolina Chapel Hill, also notes that the findings offer new information about diagnosing autism, perhaps through some kind of genetic testing.

As I've written before, I understand that, at least in the case of our son Charlie, autism is genetic, and I'm very interested in any and all new findings in genetics about autism spectrum disorders. Taking the long view, I'm hopeful that someday genetic research might lead to a better understanding of autism that in turn might lead to the development of medications that might, again in turn, better help Charlie with anxiety and obsessive-compulsiveness, both of which seem to play a large role in his neurological storms, in those 'challenging behaviors' that always seem to get in the way of progress, of learning and of communicating for him.

But in regard to Charlie's immediate future and his most pressing needs, the new study seems—and I am so sorry to sound cynical and, may I dare say, jaded—as full of promise as so many others but mostly of interest in what seems to be increasingly an intellectual sense. That is, it is of interest to see our knowledge of autism genetics being finessed, but there's little, and really not any, direct impact on helping Charlie with what he needs.

Which would be—taking in view the fact that is now 13— the following: we need to start thinking about transition (from school to what lies after) and about guardianship; about training Charlie to work and take care of his basic daily needs; about finding employers and convincing others to hire persons with disabilities; about finding Charlie a place to live in the community; about providing Charlie with activities in his leisure time; about finding and training and retaining staff; about finding medical professionals (doctors, dentists) for an autistic adult; about financing all this. 

I'm not saying that every scientific study and research paper about autism has to be about these needs, about what are 'best practices' for creating programs and services and training staff. Research is important and necessary, nobody can deny that. But as my son, and all the 200 or so children in his school (a county center for children on the autism spectrum and other developmental disabilities), age out of the school, what's going to happen? 

Should the bulk of the funds raised in the name of 'autism awareness' go to 'research' carried out in a laboratory that may one day lead to the development of some new medication that might help my son, or might make things worse? To creating tests to detect autism in children at younger and younger ages, even before they are born? Should we be devoting the lion's share of research dollars to trying to detect autism in younger and younger children who may or may be autistic? 

What about devoting even more funds than we presently are (or are not)  to create programs and facilities and training and supporting staff? Those teachers, therapists, and aides who spend hours with Charlie and his fellow students, who I see every day, quietly, very seriously, walking the students in from the many buses (like I said, there are some 200 children at the school), sitting with them through happy teaching sessions and tough anxious moments.  The school has a music teacher, an art teacher, a P.E. teacher and they are essential to Charlie's learning; would that there could be more individuals trained to teach music, art, athletics to kids and adults like him, as a child and when he is an adult.

What if every individual on the autism spectrum automatically had respite support by well-trained carers every week, and didn't have to beg request it? Jim and I are perfectly glad (indeed, we relish the occasion) to accompany Charlie on his walks 'round the neighborhood morning noon and night, in sleet and rain and under a boiling sun and in the snow, butwe are only getting older (and creakier in the limbs, etc.). Charlie was so eager to go on a walk Wednesday evening–he'd been pent up in the house all afternoon due to the rain—that he stomped and jumped and ran all over our front lawn waiting for Jim to grab his running shoes and an umbrella (the rain never stopped). Charlie's learned that the walks allay his anxieties, energies, racing thoughts. 

Without stepping into the hot water of discussions about curing and preventing autism, I think we need to ask ourselves, should we devote funds to find out how to prevent autism in yet unborn children, or to help those individuals who are here with us today and who (and whose families) can always use more? 

(Occurs to me that maybe I just got at least one foot rather wet……..)

What about research to develop better, improved, even new technological solutions for augmentative communication? To design schools and residences and other buildings using principles of universal design, to create accommodations that make it possible for someone with sensory sensitivities and motor (gross and/or) fine to be as independent as they can? To create computer home monitoring systems so that someone like my son could live in an apartment or house with a roommate(s) and someone (like us and also other carers) could keep track of what's going on, without actually having to be there? 

I know that, ideally, research funding would be dedicated to both science and to more practical applications. But I wonder, what is on the wishlist of needs of the 996 families whose children were part of the study? 

On the top of my list: I want always for there to be someone who can, who will, walk with Charlie.

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Comments
10 Responses to “Some Thoughts About Autism Research”
  1. Jersey Mother says:

    I’m with you, we should put more research, time and energy into helping these individuals with autism now! If we wait any longer, who knows what if we never find a cure, medication, or a true cause and the rise of autism is so high that there will be no hope for any kind of relief!
    I rather we put all the money into better programs, facilities, therapies, etc, and once we get this all somewhat okay, then we should look more into researching for a cure and a cause IMHO!
    I want to go to bed at night, knowing there that my child can survive happily in this world without me, if necessary!

  2. Melanie Harper says:

    We are heading to Emory University in Atlanta today to participate in the Simons Simplex Autism Study. I’m pretty excited about this because I also believe my kid’s autism is genetic, but also because the study only takes a few only children. To your point, though, there was a place on the mountain of forms for listing major concerns for our child, and my first one was “long-term supports leading to as independent a life as possible.” I’m not looking for a cure, and I think the causes will ultimately be extremely complex, but ongoing genetic research is important for optimal treatment of whatever symptoms most kick our boy and us in the rear. With my kid, it’s OCD. But, we equally need research on and funding of programs that help our kids be contributing members of society to their fullest extent – whether it be sheltered workshops, shared living spaces, or accommodations to a typical workplace. Otherwise, we are wasting so much potential.

  3. Joanne says:

    Can’t it be both? Can’t they figure out what is going on with our kids now, and what will help them now, and have it benefit children in the future?
    The thing that drives me the craziest about my son’s autism diagnosis is that you are told that your child has this diagnosis, one that will affect him the rest of his life, and they just … send you on your way. Good luck! Early intervention is key! Not helpful.

  4. Louise says:

    This study is fascinating./ The fact that these extra chromosomes can be the result of inheritence OR spontaneous development is also striking. It’s imortant that parents understand thatthey are not to “blame” for their child’s autism. The “inheritance” model is just as much a reason for parental self-reproach as the “refrigerator mother model” is.
    I also believe that withing ten years, a model for autistic intervention – let’s not call it a “cure” – will emrge based on the new science of neurogenesis. So many of the disorders of the brain were thought to be untreatable, because the brain was considered to be fixed inplace at about 18. Now we know that that model just isn’t accurate. This has big implications for autism treatment.
    As far as exercise goes, I’m still a big proponent of an exercise bicycle, a treadmill, or even a Nordictrack. Charlie loves being outdoors; that much is absolutely obvious. But he also has learned that exercise, in and od itself, is a relief for him.
    Can’t you try out an exercise bike temporarily? Buy one and return it if he doesn’t like it. Borrow one from a friend. At least give it a chance.
    He needs to be in control of his own activity level. Right now, he is stomping, slamming, jumping. What if he starts breaking, smashing, or knocking holes in things because of his pent-up energy? He’s only 13; wait until he’s 15, 5′ 10″, and another 145 lbs or so heavier. That change almost happens right before your eyes – they seem to grow like weeds, overnight.

  5. autismvox says:

    @Louise, Charlie’s much more in control of his activity level than he has been and the slamming and all that is much less than might seem to be from my post yesterday! It’s generally very quiet around here, actually; most of the noise seems to be traffic and people operating lawn-mowing implements and leafblowers. Another friend wrote about her kids simply needing to be outdoors and I think it’s the being in the ‘natural environment,’ rain and shine, that Charlie favors. (I do; I’d rather run in the rain than exercise in a gym.)
    I see the newest study as adding evidence to a number of studies that have appeared in the past couple of years, such as those on de novo and inherited events.
    @Joanne, I do think it can and should be both things that are focused on, ‘what is going on with our kids now, and what will help them now.’ Often it just seems like the preponderance of funds goes to basic research sorts of studies—which I understand is part of how scientific research operates, in part—but I sometimes think that the distance between that sort of basic research and the needs of autistic individuals is so wide, that it’s one reason treatments that are ‘biomedical’ and seem to have more immediate, notable results.
    @Melanie Harper, I hope everything goes well at Emory—OCD is one of the main issues for Charlie too; I’ve traced it time and again to so many of his biggest ‘storms.’ It’s gotten a bit better of late, maybe as Charlie has matured and learned, the world won’t fall apart if things aren’t ‘just so.’ Though there are plenty of times when he does rush into catastrophic thinking.
    @Jersey Mother, I go to bed with exactly the same thought! I look at Charlie sleeping secure in his room and think, I want to make sure that can be the case, in 10 years, in 50…….

  6. “it can and should be both things” – spot-on Kristina! With the prevalence rate increase there is certainly justification for research in cause. The increased prevalence has also resulted in a desparate need for research into developing effective services and supports. Supports that promote positive quality of life outcomes for those living with autism today.

  7. autismvox says:

    I was trying to get the phrase ‘quality of life’ into this post—thank you for mentioning it, Patricia!

  8. Barbara says:

    I like Melanie’s phrase in reference to unplanned futures of people with autism: “wasting so much potential”. That won’t happen if they are provided a good quality of life – reasonably including opportunities to functionally contribute.
    At the same time I am over-the-top interested in the underlying neurology of autism – if the genetic studies could quickly translate into how the brain functions differently from the genetic changes identified. Seems like a ‘medication’ target is too narrow. The meaning of the research needs to be broader. *falling off the rambling now*

  9. Nancy says:

    I love your post!

  10. autismvox says:

    thank you so much!

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