I am writing this because I am in the somewhat unusual position of not only being on the autism spectrum and fairly involved in the autism community, but also of coming from a scientific background, even if not in the field of autism (I am a retired electronics engineer with degrees in physics, electrical engineering, and computer science who had a career in research and development laboratories). As such, I am a great believer in the value of scientific research to the autism community.
I should begin by noting that the very discovery of autism as a neuropsychological condition came about only as a result of modern science, originally through the work of Leo Kanner (1943) and Hans Asperger (1944, more recently rediscovered by Lorna Wing), and its subsequent understanding only because of the efforts of countless scientific and medical researchers.
Although I had suspected that I might have some form of autism for the preceding ten years, I did not finally self-diagnose until August of 2000 at the age of 44. I was able to do this because, when I examined the criteria for Asperger Syndrome, I found that I readily met virtually all of them and, when I looked at lists of the typical traits of affected individuals (which I should note were generally more specific than vague), I saw that a very high percentage of these applied to me – much too high for it to have been a coincidence. Nevertheless, I understood that this was entirely subjective and so I consulted a specialist who could confirm my suspicions and ascertain that I was not just “kidding myself”. As it happens, I also had very strong evidence from my childhood (my mother had kept a diary of my early development which described numerous classic autistic traits). This made straightforward and confident what might otherwise have been a difficult and tenuous diagnosis, given my advanced age. In short, I tried to approach this in as scientific a manner as I was able to at the time.
I responded to my diagnosis by learning as much about Asperger Syndrome and autism as I could, reading every book, article, and website that I could find on the subject and attending every conference and lecture that I could get to. When I learned that Temple Grandin had participated in scientific studies of autism, mainly involving brain imaging, I realized that this was something that I wanted to do (given my own scientific background). Consequently, when the opportunity to be in such a study presented itself, I immediately volunteered. I have since been in one study at the Seaver Center for Autism of Mount Sinai Hospital and two at the Child Study Center of New York University. I am also participating in the Autism BrainNet initiative that encourages people on the spectrum to posthumously donate brain tissue, which is in very short supply, for autism research purposes.
Current scientific research in autism primarily takes place in the areas of genetics/genomics and of neuroscience/psychology. Although it has not yet led to comprehensive explanations of either the nature or cause of autism, a great amount of knowledge has been gained and significant advances in understanding have been made. Although not a specialist, I frequently attend conferences and lectures about autism science and have enough of a layperson’s background to grasp the essence if not understand all the details of such talks. More importantly, I am often able to appreciate the significance of what is being discussed to those of us on the spectrum. As much promise as this research may have for fundamental understanding, we in the autism community nevertheless need to be concerned about things that have a more immediate impact on the lives of those who are affected by autism.
The true significance and value of current basic research will in many cases not be fully known until well into the future. What is of direct value in the present is the knowledge that autism, in its various forms, has a scientific basis and explanation even if it is only partly understood. This can help us in the areas of awareness, accommodation, and acceptance (what I refer to as the three A’s) of autism by our local communities and by society in general. We need to promote greater awareness that individuals with autism face certain challenges due to a condition that they were born with, better understanding of how to accommodate these challenges, and acceptance of the fact that we are as much a part of our society as anyone despite our unusual differences. Autism science has much to contribute in advancing all three.
Autism science has also yielded much that is of direct value to people on the spectrum. This has primarily been in the evaluation of therapies and treatments to determine which are effective and which are of no value (in some cases fraudulent). One good example of this was the discrediting of Bruno Bettelheim’s theories about “refrigerator mothers” and the ineffective psychotherapies which were based on them. More recently, controlled studies have shown that traditional psychotherapies have little or no effect on people with autism – with the notable exception of cognitive behavioral therapy (CBT) which has been successfully used on many. Although, as is well known, there is no single effective treatment for autism, numerous techniques and therapies have been demonstrated to be effective in addressing some debilitating traits, deficits, and challenges of autistic individuals. Most of these are the products of scientific work in areas related to autism.
Of greatest personal interest to me as an adult on the spectrum, however, is the development of a quick, simple, and reliable method of diagnosing adults, especially older adults. Straightforward as it may be for qualified professionals to identify or diagnose a child on the autism spectrum, diagnosing an adult is an entirely different matter. This may be one of the most difficult diagnoses to perform in all of medical science due to the great variety of coping mechanisms that individuals with autism develop to compensate for their deficits over the course of their lives. Current diagnostic practice usually involves a large battery of psychological tests, many of which are far better suited for children than adults, and interviews of childhood caregivers, who may have long forgotten much relevant information or even be deceased.
Ideally, I would like to see a test that can be done in a clinician’s office to quickly determine whether a patient is on the autism spectrum and, perhaps, to what degree – I consider this to be the “holy grail” of adult autism research. Given that the prevalence of autism in the general population is currently estimated as 1 in 68, and that the dramatic increase in this figure over the past 20 years is largely attributed to improved diagnosis (i.e., the prevalence in the past was not dramatically lower), the number of undiagnosed and unidentified adult autistics is staggering. In New York City alone, there are probably around 100,000 adults on the spectrum, and the number for the U.S. is in the millions. Although many have managed to “get by” and even enjoyed some degree of success (as did I), most of them have lived entire lives with the challenges of autism but never even heard of an autism spectrum disorder, let alone known that they were on the spectrum. Scientific research offers the only hope of finding a practical means of identifying them.
Brain imaging techniques such as MRI and PET have been used in much research, but not yet yielded any reliable method of performing a diagnosis. Also, brain scans are far too expensive for use on such a massive scale. Other neurological techniques such as transcranial magnetic stimulation (TMS) have actually shown statistically-significant results in studies at Harvard Medical School where autistic subjects responded differently from neurotypical controls. I attended a talk at which these results were described, and immediately saw their potential as a possible diagnostic method. Surprisingly, there was little interest on the part of the attendees, who were more interested in very preliminary findings related to possible therapeutic methods using this technique. To me, this is indicative of a general lack of interest in the issue of adult diagnosis. It is also indicative of the interest in finding “cures” rather than providing the accommodations and services that our community needs. Magneto-encephalography (MEG) is another method that has been used in research on response times to auditory stimuli at Children’s Hospital of Philadelphia and may have some potential as a diagnostic tool.
Genetic and genomic research is another avenue that may have diagnostic potential. It is by now well-established that there is no “autism gene” – in fact, hundreds of genes have been found to be connected to autism, and estimates show that approximately 1000 genes are so connected. Given that the human genome consists of 22,000 genes, this means that as many as 5% of all genes in some way affect autism. Consequently, it will be very difficult, and most likely impractical, to effectively diagnose autism using genetic tests alone. This will provide some assurance to those in the autism community who fear that such a test might be used for eugenic purposes. Where such tests will have value, in conjunction with other methods, is in the early detection of autism which can in turn lead to effective interventions in small children. Such methods may also be of use in performing adult diagnoses. In addition to genetics and genomics, autism research is finding applications for epigenetics (the activation/deactivation of specific genes) and proteomics (mapping of the actual proteins that are synthesized by cells from DNA sequences with the genetic code); the latter is currently being studied at Clarkson University and other places, and has shown some promise towards future diagnostic methods.
I want to take this opportunity to encourage readers who are involved in any relevant research to consider its possible implications for adults on the autism spectrum. In particular, anything that could lead to a diagnostic method will be of great benefit to our community.
In conclusion, science is more responsible for the benefits that we all enjoy in the modern world than any other single factor. In the same manner, science offers enormous potential for addressing the issues and challenges that people living on the autism spectrum face. Let the march of scientific progress continue, especially in the area of autism.
For more information, Karl can be reached at firstname.lastname@example.org.