An Expert Interview with Fred R. Volkmar, MD
As part of a special feature on autism, Medscape interviewed Fred R. Volkmar, MD, one of the world's leading experts on autism, to get his view on the current state in autism and autism spectrum disorder. Dr. Volkmar is the Irving B. Harris Professor of Child Psychiatry, Pediatrics, and Psychology and Director of the Yale University Child Study Center, Yale University School of Medicine. He is also the Chief of Child Psychiatry at Yale-New Haven Hospital, New Haven, Connecticut. He was the primary author of the American Psychiatric Association's DSM-IV's (Diagnostic and Statistical Manual, text revision IV) section on autism and pervasive developmental disorders section, and the author of several hundred scientific papers, chapters, and books. He also serves as the editor of the Journal of Autism and Developmental Disorders. Dr. Volkmar has been the principal investigator of several major grants for autism research.
Medscape:Let's start with big picture, the world view, of autism, ok?
Fred R. Volkmar, MD: The big picture -- which is why this is more relevant than an academic exercise -- is that there are very strong reasons to believe that, with earlier detection and intervention, children with autism are doing better and better. One of the happy problems we have these days is supporting kids with autism, Asperger's, and autism spectrum disorder who go to college. It's a problem that didn't happen so much in the past, but it's happening more and more. This has its own pros and cons because these young people have their own sets of issues, but it's a happy problem to have. It also is the case that more and more resources are becoming available for professionals as well as parents and teachers.
Medscape: Can you give us some examples?
Dr. Volkmar: Well my wife, a pediatrician, and I co-authored a book specifically written for parents and teachers. Also for the past 25 years I've taught an undergraduate seminar at Yale College where the students have weekly supervised experience working with children and adolescents on the autism spectrum and a seminar on a range of topics including diagnosis, braining functioning, genetics, early development, communication problems, behavioral programs, and so forth -- lectures given by Yale faculty or occasionally invited lecturers. We have been fortunate to have support from donors, which has allowed us to make the entire series of lectures public on the Internet.
Medscape: That is a great resource. Can you frame for us why these are important issues? For example, what are the economic issues with autism?
Dr. Volkmar: They are not trivial. Some good data have been published both here in the United States and in the United Kingdom about how much it costs for someone with autism to end up living in an institutional setting, with 24/7 care. We're talking millions of dollars per person.[2,3] So, with improvement in outlook for these patients, we're seeing the difference between somebody who's a tremendous financial drain on society as opposed to someone who is a taxpayer and is out there working, maybe getting married, and productive. So this is not a trivial issue. Many people with developmental disorders are now getting better -- and notice I say many, not all, because, unfortunately, not everyone gets better, even with early diagnosis, but more and more do.
Medscape: Are you seeing more patients with autism than you did earlier in your career?
Dr. Volkmar: When I came here in 1980 to do a fellowship in child psychiatry, seeing a 4- or 5-year-old with autism was a big deal. "Oh, this is amazing." In some ways this was paradoxical though, because, from the first description, autism has been generally thought to have its onset in the first months of life -- if not from birth. Part of the reason was lack of information on the part of the parents, but also pediatricians and healthcare providers were not realizing what the problems were and often gave the standard advice of "wait and see." It is now very common to see children with autism who are under a year -- I think the youngest child that we've seen and worried about was 3 months old.
Medscape: How have researchers studied young children?
Dr. Volkmar: This is an area where research has changed. In the past it was typical to rely only on parent report. The trouble is that when you're dealing with parents they may not be very good at remembering and many different factors can color their recollection. This gets to be even more of a problem as the child gets older. I have the same problem. You ask me, "Which one of my kids talked first and what month? What was their first word?" Well my wife might remember. I'm not sure I could, and the older that kids get, you have what are called telescoping effects. There are complicated issues in relying on people's memories, particularly for things that might seem, at the time, relatively subtle.
So, what are other ways we can go? The next thing researchers tried was to look at videotapes. There was a whole body of work looking at videos, let's say, first birthday videos, and finding some subtle deficits in many children and often by the second birthday lots of deficits. Indeed many of the items that current checklists and screeners include rely on focus on signs of autism from around age 18 months to 2 years. However, the videotape work had its own issues. Often you're looking at one particular context -- birthdays, Christmas, Hanukkah. It's not like a standardized setup or package of observations, but nevertheless, this gives us some information and helps us document some of the early features.
Leo Kanner, when he described autism, said children were born with it. He thought it was congenital, and most of the time we think that's probably true. What's happened in the past 10 years is that people have really clued into how strongly genetic autism is, which also means that they're thinking about risk for siblings -- who have a risk probably somewhere between 2% and 10%. This has given rise to some new and very interesting strategies. Over the past few years, there have been a number of studies, mostly prospective, in this country, and some in Canada and other countries. These studies are following siblings of children already diagnosed with autism from birth and observing autism as it first develops. We have recently edited an entire book devoted to the topic of autism in infants.
Medscape: What research is going on at Yale in this area?
Dr. Volkmar: Here at Yale, we have a large interdisciplinary group looking at early development by using eye contact and listening preference. We have a series of studies using neuroimaging methods such as magnetic resonance imaging and functional magnetic resonance imaging to study brain functioning, and another series of studies concerned with genetic mechanisms. Still others are look at issues of treatment and the evidence base of treatments. Our Web site has descriptions of these studies as well as links to good resources.
Medscape: What are some of the ways clinicians can learn more about early diagnosis? Are blood tests available that will help to diagnose autism?
Dr. Volkmar: There are very promising leads in the area of genetics, with some potential candidate genes now being identified. We also know that autism is sometimes associated with other conditions, such as Fragile X and tuberous sclerosis. On the other hand we don't have simple genetic tests as yet and so clinician awareness and screening remains the major thing we rely on in picking up cases early in life. The Centers for Disease Control (CDC) and American Academy of Pediatricians have good resources on autism for clinicians. And the Yale seriesI mentioned previously has lectures on diagnosis, genetics, and early development in autism.
One of the very active areas of research is development of better ways to detect autism early in life.
Medscape: How long would it take to be able to introduce diagnostic criteria into practice based on prospective studies?
Dr. Volkmar: If you're doing a study that started, say, 4 or 5 years ago, only now would could you be absolutely sure of the diagnosis of autism in those kids. There's intrinsically a bit of a time delay built in there.
Medscape: By the way, when you say autism, are you talking about classic autism or the autism spectrum disorder?
Dr. Volkmar: That's another very interesting question. It depends on how you want to phrase it. When I say autism, I usually mean classical autism. Autism spectrum is very au courant, and it's probably 4 or 5 times more common than classical autism and not unrelated to it in terms of genetics and, indeed, interventions. On the other hand, most of the research is done on classical autism. There's been very little on the broader spectrum, comparatively speaking. There's even less agreement on the best ways to come to a good definition of the broader spectrum. The autism spectrum is a very interesting conundrum because that's when you here, "Oh, the chance of your kid going to Carnegie Hall is like the chance of your kid having autism." they're not talking autism, they are talking autism spectrum disorder (ASD).
Medscape: Do you think the increase in autism is mainly due to the expanded definition?
Dr. Volkmar: It's a couple of things. First of all, there's more public awareness. The fact that we're having a discussion like this, 20 years ago nobody would have ever called me to talk about autism. It's partly the media and it's organizations like Autism Speaks and other things for good or bad. Even on the Internet, if you type in autism into Google, you will get 15,000,000 hits. The trouble is, only about 100 of those are worth anything and of that 100, about one third are quite problematic. There's more information, there's more media attention, there's more public awareness. We now get referrals from daycare providers, who in the past wouldn't even know what the word meant. It's much more in the public conscientiousness.
Back in 1994 when we revised the most recent DSM, we made a conscious effort to be sure the system worked well for more cognitively able people. That was going to increase the numbers, not because people with ASD weren't there before, but they weren't said to have autism because they were brighter.
Medscape: What are the public implications of the expanded definition of autism?
Dr. Volkmar: I was just having this debate with a faculty member. It's fascinating because I can tell you that when you say we're going to move from autism to autism spectrum, the public schools are not going to magically increase their budget 5 times for special ed. They're going to be dealing with the same pool of money, only it's going to be spread out more. So one of the questions is going to be: "What does this do for the kids with classical autism?"
It's a very interesting time to be involved in autism research, and there's a lot to be said about the earlier diagnosis business. However, I think one problem in the field is that although there's some very interesting research done over the past decade that is just starting to permeate out, people have not done such a great job thinking about the implications -- what does it mean in terms of clinical interventions, clinical services. I think people are trying for the first time to really translate some of the research knowledge into information that parents and teachers and clinicians can use.
Medscape: So is early intervention in autism and ASD making a difference?
Dr. Volkmar: There's a wonderful book if you haven't seen it called, Educating Children With Autism, it's from the National Research Council. It came out in 2001 and it answers a question that was asked by the US Department of Education, "Does early intervention make a difference in autism?" The answer was yes. This book goes through 10 programs around the country that have published peer-reviewed information showing their program works, but they're mostly focused on autism. It's a funny business, because I would say to parents, "Your child isn't so much classically autistic; they're only on the spectrum." The parent would say, "Well I can't find much about that." I would say, "Yes, it's a paradox because this is the more common condition." Researchers who want to get grant funding have had to basically focus on autism because there's been much less agreement about defining the broader spectrum. It's a very difficult conundrum.
There are, however, some good materials for parents now -- good books, and I think there are some good Websites. I edit the Journal of Autism, which is the oldest one in the field, and we have 2 papers under review right now that are looking at Internet resources and the quality of information, which is a great topic.
Medscape: Are there any medical interventions that might be useful?
Dr. Volkmar: There are some good pharmacologic interventions. They can help with some of the behaviors -- the irritability, the agitation, the stereotype movements and mannerisms, which can be very problematic in terms of programming. So, these are important interventions, However, they don't seem to target the core social communication problem.
Medscape: You had done a study on citalopram.
Dr. Volkmar: It was one of my colleagues here who was involved in citalopram. I wrote a commentary for the archives. It basically made the point that it doesn't work so well for kids. It seems to work better for adults, and again, that's one of the problems. The drug companies have not been very interested in autism as a topic area. There's been some interest, but not much.
Medscape: Does oxytocin have any promise?
Dr. Volkmar: This is complicated one. The thing about oxytocin, you could make a case for it around attachment, but the interesting thing is that when people have looked at children with autism, they do develop attachments to their parents. They also develop odd attachments to other things. So it's not like they don't develop attachments. It's an interesting discussion, and oxytocin's one the agents, obviously, that people are interested in because it involves a direct social connection, but we need more work in the area.
Medscape: How early can you start working with these children?
Dr. Volkmar: In this country, we mandate services in school starting at age 3. Some states have early intervention programs before that time, but they differ dramatically. And the states vary in terms of the range and quality of programs provided in schools. In Connecticut, for instance the kinds of service will vary a lot depending on the town you're in.
The report from the National Research Council makes the suggestion -- and it's a somewhat odd number -- of 25 hours a week, year round, for a program. It's a funny number because the actual programs range from 40 hours a week to less than 10, and the programs themselves vary so the 25 is a kind of middle-of-the-road number. For instance some programs are center-based, where a parent comes in, gets trained, and then goes home. Other services are provided in the home. There are all kinds of interesting different models and to complicate life further, all these programs change and evolve over time. They may start out more center-based and then move into schools. It's very interesting, but we, as a country, try to make more sense out of what programs work for what kids. I'm sure there are some programs that don't do as well as others. So what can we learn from mini-experiments that are going on around the country, in terms of, what does and doesn't work or what can we do to make programs more effective?
Medscape: Is there anything specific that you could describe as an intervention that would be effective?
Dr. Volkmar: Special education and behavior modification.
Medscape: What about interaction with a parent?
Dr. Volkmar: That's not a bad thing and obviously it can be very helpful. I would emphasize some programs more than others. Some of the more developmentally based programs want to get parents on board, which turns out to be complicated for many reasons. There are less data for those programs than there are for the behavioral programs. It's also a horrible burden for parents if they're charged with delivering a program and then it doesn't work. Who's responsible for that? There's a big potential for parents feeling dreadful if they're the ones bearing the burden of the program. The happy news is that there are really good programs around the country that can serve as models.
Medscape: So how would you summarize the best approach for intervention?
Dr. Volkmar: The most relevant book, which I mentioned from the National Academy, Educating Children with Autism, makes the point that there are several intervention programs that have some data that show that they work and that they can work quite well. Many of them are based on aspects of behavior modification called "applied behavior analysis" interventions; many of these have become very sophisticated. Others are more developmentally based and/or eclectic and pull bits and pieces from other things, but the goal, basically is that autism becomes a problem for learning. If you're not socially engaged and you're sitting in that first-grade class, the world is equally relevant to either the world of the teacher, the world of the wallpaper, the world of the fan spinning in the ceiling, or the world of carpet in the floor, and so it's a real problem for kids. It's a challenge for learning. A lot of the focus of these early intervention programs has to do with mitigating the problem behaviors of autism that interfere with learning. As a result, it looks like kids are doing, as a group, much better in terms of their learning effectively. This sets the stage for their being able to be more able to participate actively in learning and for future success.
- Volkmar RR, Wiesner LA. A Practical Guide to Autism: What Every Parent, Family Member, and Teacher Needs to Know. Hobokon, NJ: John Wiley & Sons; 2009.
- Knapp M, Romeo RE, Beecham J. Economic cost of autism in the UK. Autism. 2009;13:317-336. Abstract
- Ganz ML. The costs of autism. In: Moldin SO, Rubenstein JLR, eds. Understanding Autism: From Basic Neuroscience to Treatment. Boca Raton, Fla: Taylor and Francis Group; 2006.
- Kanner L. Autistic disturbances of affective contact. Nervous Child. 1943;2:217-250.
- Chawarska K, Klin A, Volkmar FR, eds. Autism Spectrum Disorders in Infants and Toddlers: Diagnosis, Assessment, and Treatment. New York, Guilford Press; 2008.
- National Research. Educating Young Children with Autism. Washington, DC: National Academy Press; 2001.