Some Thoughts About Autism Research
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.
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.