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Webcast Video Interviews
New Developments in Autism Spectrum Disorders
Eric Hollander, MD; George D. Lundberg, MD
Medscape J Med. 2008;10(6):152. ©2008 Medscape
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Dr. Lundberg: Hello, I'm Dr. George Lundberg. Welcome to The Medscape Journal of Medicine and a Webcast Video Interview with Dr. Eric Hollander, who is Professor and Chair of Psychiatry at the Mount Sinai School of Medicine in New York, and we are taping at the annual meeting of the American Psychiatric Association in Washington. Thank you very much for being with us today, Dr. Hollander.
Dr. Hollander: It is my pleasure.
Dr. Lundberg: Our topic is that area in which you are the director of a center of excellence, in autism and disorders of impulse control. I want you to tell me and our audience whether autism is a psychiatric disease, a pediatric disease, a neurologic disease, a genetic disease: What kind of disease is it?
Dr. Hollander: It is a developmental disorder, which means that it begins before the age of 3, and clearly it is a disorder of the brain, although other aspects of the body may be affected as well, so we consider it a neuropsychiatric developmental disability.
Dr. Lundberg: So neuropsychiatric developmental, age 3 -- and what is the latest it could show up? At what age?
Dr. Hollander: It has to occur before the age of 3.
Dr. Lundberg: So it is a pediatric disease.
Dr. Hollander: Right, although of course autistic children grow up to be autistic adults, and clearly it affects the whole life span.
Dr. Lundberg: Of course. Is there a simple definition of autism?
Dr. Hollander: A simple definition is a marked impairment in 3 core symptom domains. So marked social deficits, problems with eye gaze, understanding what other people are thinking, reading their body expressions, the give and take of social interactions. That is the first core deficit. The second core deficit has to do with narrow restricted interests and repetitive behaviors, so these are people who may be experts in a small area of special interest, and have rigid routines and lots of stereotype behaviors, or compulsions, for example. And then the third main deficit is language-based difficulties that occur in most individuals with autism; sometimes their language ability catches up later on.
Dr. Lundberg: I'm a pathologist. Is there such a thing as a pathology of autism?
Dr. Hollander: There is a neuropathology in the brain circuitry associated with autism, and, in fact, we think that there are distinct brain circuits that are associated with these 3 different core symptom domains, so certain circuits are involved in repetitive behaviors and other circuits may be involved in the social deficits, and others related to language. There are regions of the brain for neuropathology that have shown abnormalities as well, so clearly it is a brain-based disorder. Interestingly, the brain volume seems to be large, and the number of structures seems to be large, but as a developmental disorder, what you see is that over time there are marked differences between normal brain development and what happens in autism, so they start off with bigger brains and then a more marked regression.
Dr. Lundberg: Has there always been autism or is it a new disease?
Dr. Hollander: One big area of controversy is whether it is an epidemic. We know that about 1 in 150 individuals now get diagnosed with an autism spectrum disorder. There are a couple of issues. First, we have broadened the diagnostic boundaries, so we think of the autism spectrum rather than just autism, and that includes Asperger's syndrome and pervasive developmental disorder, so in a sense the boundaries have been broadened a little bit. People do much more active screening, because we know that you want to make the diagnosis as early as possible because early intervention will speed up the developmental trajectory, so there is more intensive screening. Partly there is an ascertainment bias, so some people who have been called mentally retarded or learning disabled are now getting autism spectrum diagnoses, but one issue that is sort of a hot controversy is whether or not there are environmental factors that may interact with the very strong genetic predisposition to be associated with sort of a rise in the number of people coming in.
Dr. Lundberg: So as far as you're concerned, there is no question that there is a genetic component?
Dr. Hollander: There is a very strong genetic component. Of all neuropsychiatric disorders, it is probably stronger in autism than any other condition.
Dr. Lundberg: Then there may be a variety of environmental influences, which layered on top of that genetic predisposition, may combine to produce 1, 2, 3, or altogether the variants of autism.
Dr. Hollander: That is right. The interesting thing is there seem to be a number of different genes with minor effects that may sort of interact to be associated with these different core and associated symptoms of autism. We are starting to learn about these cytogenetic abnormalities. It turns out that older fathers have a 6-fold increased risk of having offspring, and so there may be these small deletions or duplications of the chromosomal material that can cause these sporadic cases, for example.
Dr. Lundberg: It has been an amazing thing to watch over the last several years. I really first learned about autism at the Institute of Medicine annual meeting a few years ago, where there was an in-depth discussion of it, and so much has happened since then in terms of knowledge of it. On a geographic level, to your knowledge, are people diagnosed with autism in all ethnic groups, all continents, all racial groups, and everywhere?
Dr. Hollander: It does seem to cut across the socioeconomic sort of boundaries in the United States, and surveys done in other developed countries also suggest similar rates.
Dr. Lundberg: So we know about developed countries, but we are not so sure necessarily about South Pacific Islanders or thereabouts?
Dr. Hollander: Right. The CDC [US Centers for Disease Control and Prevention] does these surveys, and there actually are some variations within the United States. So states like Arkansas and Alabama have a relatively low rate; states like New Jersey seem to have a higher rate. Part of that may just be a screening and educational issue.
Dr. Lundberg: It is always an issue of diagnosis as opposed to actual rates. One always has to wonder about that. For early intervention, what sort of prognosis if one gets the best treatment early on?
Dr. Hollander: There is a lot of heterogeneity in autism, so you have some individuals who have normal...
Dr. Lundberg: You can't generalize. If it is not really bad, it is easier to treat. Okay.
Dr. Hollander: It turns out that the better they are doing at baseline, the better their IQ and verbal skills, the better they will do over time.
Dr. Lundberg: Of course, but there is reason to treat and there is reason for optimism in many patients with autism.
Dr. Hollander: Absolutely. It turns out that early interventions can be really very helpful, and we are starting to learn that tailored medication treatments can be very helpful for the different problem behaviors and even core symptoms of autism.
Dr. Lundberg: It is going to be fabulous to watch this understanding evolve, because this is really rapidly happening. One final question: Again, as a pathologist, do we know whether the life span of patients with autism is affected?
Dr. Hollander: Some individuals with autism have accidents. They run into the street or they drown, for example.
Dr. Lundberg: Right, so there is that risk. Maybe we haven't been diagnosing it long enough to be able to answer that question?
Dr. Hollander: It is an interesting question, whether it affects other organs that may decrease the life span, but as we know it now, other than accidents they seem to have a normal life span.
Dr. Lundberg: Okay. Thank you very much for being with us. I appreciate it. And thank you for watching our Webcast Video Interview with Dr. Eric Hollander, Professor and Chair of Psychiatry at the Mount Sinai School of Medicine in New York, on the topic of autism and disorders of impulse control. Thank you.