Date: Thu, 20 Dec 2007 20:06:30 -0500 From: Matthew Belmonte To: Inter-Agency Autism Coordinating Committee Subject: NOT-MH-08-103 : RFI: Research Priorities for the Interagency Autism Coordinating Committee Strategic Plan for Autism Spectrum Disorders I submit these comments on NOT-MH-08-103, "Research Priorities for the Interagency Autism Coordinating Committee Strategic Plan for Autism Spectrum Disorders," from the perspective of a stakeholder as brother and uncle to two people with autism, and from the perspective of an autism researcher. 1. What topics or issues need to be addressed to advance research on the TREATMENT of ASD? Four particular aspects that I wish to single out for treatment attention are (1) SLEEP symptoms and sleep disorders comorbid with autism, (2) the potential of new behavioural methods and new TECHNOLOGIES to address the profoundly debilitating impairments of speech and COMMUNICATION that all but silence a huge number of people with autism, (3) identification and treatment of GASTROINTESTINAL SYMPTOMS in people with autism who may not be able to communicate their discomfort and pain, and (4) the management and care of autism across the life course and autism's interaction with AGEING. (1) Simply as a practical matter, irregular sleep is a huge problem in people with autism - especially in the youngest, whose parents are already being run ragged caring for children who often do not organise their own activities and cannot be left unsupervised and on top of all this are being deprived of sleep. It's widely known, from anecdotal reports and from a handful of studies, that the amount and timing of sleep in children with autism is abnormal, yet hardly anyone seems to see this as the very significant clinical problem that it is. (2) Communication methods for people with autism who cannot speak, or who have difficulty applying speech for meaningful communication, remain tainted by the flawed, poorly approached, and poorly studied method of Facilitated Communication. That this method is flawed and allows false communications from some people with autism at some times, though, doesn't mean that it mightn't have contained a grain of truth. Indeed, there are indications that FC and similar typing methods work for many people with autism, a significant number of whom have progressed to undeniably independent typing. What's going on, behaviourally and neurally, in the people for whom such methods work? What elements of the methods are working, and what elements ought to be discarded? Developments in virtual reality and other computing technologies have great potential to translate the perceptual world into a pace and a number of channels that a person with autism is able to manage, and likewise to translate the communicative attempts of the person with autism into a language that the rest of us can notice and understand. The development of innovative technologies to support communication in people with autism should be a major initiative. (3) Again anecdotally and also in a handful of published reports, many people with autism suffer from gastrointestinal symptoms - symptoms that cause pain and discomfort and which can be addressed if only they can be communicated, and if only professionals would not shrug off the patient's attempts at such communication as "part of the autism." What are the profiles of gastrointestinal symptoms in autism spectrum conditions, and how can these symptoms be addressed? (4) Although most attention focuses on children with autism spectrum conditions, there's a huge number of adults with autism spectrum conditions. Many of these are undiagnosed, in the case of Asperger syndrome, or misdiagnosed as mentally retarded or schizophrenic. Many of their parents are dead or will soon die, leaving them without vigorous advocates. Who will speak for these people? What difficulties will they face, medically and socially, as they enter old age? 2. What topics or issues need to be addressed to advance research on the DIAGNOSIS of ASD? Existing instruments are designed to identify autism spectrum conditions but not especially to track them; there remains no widely accepted and validated instrument that can be used repetitively to evaluate response to behavioural therapies or other putative treatments. In addition there is a need for instruments better able to differentiate variants within the autism spectrum (the ADI-R, for instance, tends to over-include people with Asperger syndrome as "autistic.") Efforts at educating paediatricians, teachers, and other front-line personnel on risk factors and warning signs of autism spectrum conditions need to continue and to expand: public health and community outreach should be a significant focus for all centres of autism research, and applications for funding should be evaluated with this criterion in mind. Lastly, of course, the quest for biomarkers (or more likely, sets of biomarkers) remains a "holy grail" for autism diagnosis. 3. What topics or issues need to be addressed to advance research on the RISK FACTORS for ASD? Advantage has not generally been taken of the straightforward contrast offered by clinically unaffected sibs. These individuals share many of the risk factors for autism spectrum conditions, yet have been developmentally rescued from autism spectrum conditions - either because their accumulation of genetic and environmental risk factors is subthreshold or because they possess protective factors not held by their affected sibs. The effects of these protective and liability factors may very well be traceable on many levels, from genetic variation to biochemical profiles to physiology, anatomy, and behaviour. Comparing sibs to individuals with autism and to unrelated individuals, using wide-ranging and integrative sets of assays, will help to identify these risk factors and protective factors. 4. What topics or issues need to be addressed to advance research on the BIOLOGY of ASD? Although candidate genes are a useful route to explore, they shouldn't be pursued to the exclusion of complementary strategies at biochemical, physiological, anatomical, and behavioural levels of analysis, or to the exclusion of links to each other in networks of genes and proteins. The currently developing emphasis on big science applied within a genetics-only perspective will, if pursued single-mindedly and with the degree of monomania that it seems to have attracted of late, displace other productive approaches. Single-gene studies are an important component of biological investigations of autism, but must be addressed within a broad context of systems and integrative neurobiology. PHENOTYPIC MEASURES ought to include not only diagnostic and psychometric information but also behavioural indices of perceptual function, attentional focus and shifting, executive function, and social cognition IN THE SAME INDIVIDUAL SUBJECTS, rather than in separate studies with subject pools in which measures cannot be correlated. Behavioural tasks must have ecological validity and must whenever possible be presented in an event-driven format rather than a timed format, one that can accommodate variation in subjects' pace of responding. Points of convergence or "final common pathways" may occur at all levels of analysis, from genetic networks to abnormal learnt behaviours and cognitive strategies. 5. What topics or issues need to be addressed to advance research on OTHER AREAS of ASD research? A medical diagnosis is a construction not only of its biological roots but also of its societal context. As we strive to prevent and to cure autism, we must take care to avoid "curing" those abnormalities in autism that are not, in fact disorders but which rather are simply different ways of perceiving and interacting with the world -- capacities which in some regards exceed normal human capacities. The study of autism presents a grave danger of such an over-inclusive "cure" since autism arises in the confluence of so many independent or largely independent genetic and environmental factors -- factors which, if they occur independently or in small numbers, may very well contribute to the individual's fitness and to the genetic, phenotypic, and societal diversity of the human population. In my view, the best cure for autism will be one that preserves autistic cognitive superiorities but which affords people with autism the communicative skills to share the fruits of these special cognitive skills in a social world. I firmly believe that such a cure will be possible, and I look forward to input from social scientists, historians of medicine, medical ethicists, and others in the broad field of SCIENCE AND TECHNOLOGY STUDIES which will keep us on the right path. Such input and study should be actively and formally solicited.