Autism Now: Dr. Timothy Buie Extended Interview
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ROBERT MACNEIL: What is Nick’s gastrointestinal problem?
DR. TIMOTHY BUIE: Nick has several gastrointestinal problems, I think. He has, clearly, food sensitivities. And even before we saw him, he had been tried on a diet that reduced milk from his diet and gluten from his diet and he had an improvement from being on that diet. He was having chronic diarrhea…
And when he went on that dietary restriction, those stools got better. They weren’t completely normal, but they did get better. And I think that was good support, that for him, a dietary sensitivity was part of his problem. But even doing some of those adjustments, and no matter what they did to change the diet, he continued to have diarrhea. So he had an ongoing issue with chronic diarrhea, which is what we originally worked him up for.
ROBERT MACNEIL: And you also did an endoscopy on him, and what did that reveal?
DR. TIMOTHY BUIE: So his endoscopy showed, really, fairly normal findings. We were able to exclude allergic change along the lining of the gut. He didn’t have a lot of inflammation. But he had changes in the lower GI tract that looked like prominent lymphoid reactions — this finding of lymphoid-nodular hyperplasia that’s been talked about a lot in the autism community.
Part of the difficulty with that finding is that it’s very nonspecific. You can see it in normal children. You can see it in children who have a history of multiple allergies. You can see it in children who’ve had a history of recent gastrointestinal illness. So the finding doesn’t specify what the problem is, but in his case, with this chronic diarrhea, I think it was a mark that he had some insult going on with his intestine, which prompted us to put him on an anti-inflammatory medicine.
ROBERT MACNEIL: How does that affect the life of a child like Nick? For instance, does it give him pain?
DR. TIMOTHY BUIE: I think it can give pain. And I think pain, in a child with autism, is a very difficult thing to assess because a child with autism can’t vocalize that. He will very often not come to you and say, I’ve got a bellyache. He can’t use those words. So he may exhibit that as a child who doesn’t sleep well. He may exhibit that as a child who has a lot of increased agitation or hyperstimulatory-type behaviors.
And part of the problem with that is that we’ve accepted that those are behaviors that we often see in children with autism and we’ve written it off to their autism. So it’s very difficult to think through whether that’s a marker for pain in some of those kids if we’re unwilling to look for other reasons.
ROBERT MACNEIL: The small intestine is where nutrients are absorbed by the body from food. How does the damage to his small intestine affect his digestion and nutrition?
DR. TIMOTHY BUIE: It’s uncertain. In his case, I’m not sure how much of an impact that had on his ability to absorb proteins or nutrients or vitamins. I think that, certainly, diarrhea and rapid transit, whether there’s damage or not, can affect how well you absorb those nutrients, as well. And so I think there are a lot of different processes going on that can affect how well kids are benefiting from nutrition.
In autism, you’ve got the added difficulty, for nutrition, that these are children who are highly selective in the foods that they’ll eat. And so they’ll limit themselves to a place where they may not be getting adequate nutrients. We have a case that we described in the New England journal that was a child who had no source of vitamin C, except for drinking Hi-C.
And when he stopped drinking Hi-C, he developed scurvy. And that’s a diagnosis that we don’t see in this day and age because we feel like we’re meeting nutrient deficiencies very well by the way we supplement foods. But he had clear-cut features of vitamin deficiency that we don’t see in this century.
ROBERT MACNEIL: Is that damage to the intestine reversible, or can it be moderated, or is it permanent?
DR. TIMOTHY BUIE: I think most of the conditions that cause inflammation or irritation are treatable. Some of them are chronic. So for instance, if I have celiac disease, which is a gluten sensitivity that causes intestinal damage, as long as I continue to take gluten, I will continue to get that injury. I can fix that condition, or at least, I can treat that condition, by taking that food out of the diet.
And patients who have celiac disease who stay vigilant about staying away from gluten really can heal, and their intestinal lining will look normal. And they’ll do very well. Their nutrient absorption will normalize. Likewise, colitis is a disease that we don’t know the cause of, but if we treat it and we take care of that inflammation with medicines that are anti-inflammatory, we very often can get those children into a remission state.
They can stay very well. They will absorb well; they’ll grow; they’ll do very well. Some of those children will be able to come off of those medications at a point; many kids will need to stay on medicines chronically.
ROBERT MACNEIL: How common are these GI problems in children with autism, given that you’re an expert in GI issues and people come to you for that as your specialty?
DR. TIMOTHY BUIE: I think that’s a risk. Being a GI person, people come to me because they’ve got gastrointestinal problems. And so I’d tell you that the whole world of the children with autism has gastrointestinal problems. But I think the data is still not complete. I think that the papers that have looked at this have shown that it’s a very common condition. And probably the best papers that have looked at the prevalence of gastrointestinal problems in children with autism say that, that frequency is somewhere between 50 and 70 percent.
ROBERT MACNEIL: How do you explain, yourself, the connection between the GI issues and autism?
DR. TIMOTHY BUIE: I don’t think I can explain it yet. I think that many of the conditions that we find in the children that we take care of with autism are common conditions. Constipation is a problem that 20 percent of general pediatric patients have that needs to be treated at some point in their pediatric years. So we need to expect that, that’s going to be a common problem for us in our children with autism, and it is.
Acid reflux is fairly common and up to a quarter of kids, in their pediatric years, will need to be treated for a period of time for symptoms that are consistent with acid reflux. So it’s a very common condition in general pediatrics. It’s, likewise, something we need to be looking for in our children with autism.
So to your question, if the question is, do I know that there’s a link between the gastrointestinal problem and the autism itself, I’m not sure yet. I know that when I have an underlying gastrointestinal problem, I’m very likely to not do as well today, and I’m very likely to be more agitated or more frustrated or less able to succeed in my classroom.
ROBERT MACNEIL: You’ve also studied mitochondrial dysfunction and written about it, and that is suspected in Nick’s case, although not totally confirmed, I believe, yet. How, if that is true, would that affect the life of a child like Nick?
DR. TIMOTHY BUIE: We’re learning a lot about mitochondrial disease. And so how we understood mitochondrial disease ten years ago was probably the tip of the iceberg of that condition. And kids who were extremely debilitated by mitochondrial disease – children who may not have lived until ten years of age because they had severe muscle wasting and intractable seizures or other complications.
The mitochondria is the energy source within all cells of the body. So you have this place that produces energy for the cells. That’s the mitochondria. And there’s more and more data in the last few years that suggest that mitochondrial disease is, in fact, fairly common in children with autism.
The prevalence frequency of mitochondrial disease in the general population has been stated to be somewhere about one in 5,000 individuals. Recent studies have suggested that in autism, maybe up to 1 or 2 percent of children with autism have mitochondrial dysfunction. And I think that’s early, preliminary data. As we get better at recognizing those children, we may actually find that there is a higher frequency of mitochondrial dysfunction in those children.
ROBERT MACNEIL: Autism, for medical diagnosis purposes, is still defined by the manual that describes mental dysfunctions or diseases. How do you think autism should be defined?
DR. TIMOTHY BUIE: I don’t know a better way to describe autism than the clustering of symptoms that we see together. And so if it’s been described in this DSM-IV or other places, it’s characterized by particular symptoms that seem to cluster together, like we see in other syndromes.
This clustering of disordered communication, unusual socialization and the need for sameness or repetitive behaviors and comfort to be found in the way that children do things is a clustering that just sort of meets the definition. But I think there are probably a lot of different pathways that bring children to those symptoms, those features, which is somewhat different than other syndromes.
We understand that in Down’s syndrome, there is a chromosome defect that we can do blood testing for and we can describe that those children may have a particular look. We know that many of them have a cardiac abnormality. We know that many of those children have gastrointestinal issues. Many of those children are sensitive to gluten, et cetera. I think we’re still one step behind in children with autism right now, and in children with mitochondrial disorder, for the most part, that many of those conditions don’t have a distinct gene that accounts for the profile of those children that we see.
ROBERT MACNEIL: Do you think the definition of autism should be broadened, or the description of it?
DR. TIMOTHY BUIE: I think that there are certain things that practitioners who take care of children with autism see that I think we’d love to see included in what people view to be the syndrome of that condition. For instance, I think most of us who see children in an office recognize that many of those children have sensory defects. They’ve got, really, difficulty dealing with loud noises or particular sounds – sometimes, not sounds that would even be noticeable to us, like the ventilator.
And in my office at our developmental clinic, my office has this blowing ventilator that must feel like a freight train in some of those children. They can’t even sit in my room because they’ve got such sensory input from what I view to be low-level noise. I think that would be something that I would include in the diagnosis. I think medical conditions that are often seen, like seizure disorders or gastrointestinal disorders, ought to be made part of that construct of, what is autism because they’re seen commonly enough that I think they will be – as we get smarter about taking care of these kids – part of how we describe this condition.
ROBERT MACNEIL: Do you regard it as a whole-body experience?
DR. TIMOTHY BUIE: It’s a total-body condition, and it’s a condition that, in some children, affects their allergic responses and their immune system and a whole host of other systems.
ROBERT MACNEIL: Is your view still held by a minority within the medical profession?
DR. TIMOTHY BUIE: I think we’re learning about this condition, and I don’t blame practitioners who don’t have a lot of sense about the medical issues because, as a pediatrician, when I trained — and I graduated from medical school in 1984. I was in my pediatric training in the mid-‘80s — my pediatric textbook described this as a rare condition. It described it as the one, individual childhood psychosis that’s been characterized.
So in the 1980s, we considered this to be a childhood psychosis. We never considered other medical issues. So in a lot of ways, I think we’ve come a long way, in a pretty short period of time, about changing the way that we view this diagnosis. It’s only been characterized since 1943, so for so many other conditions, we’ve had a lot more history to see how these children develop over time. We’re just now seeing children come to adulthood to see how this condition develops as we follow them into their adult years.
ROBERT MACNEIL: Let’s talk about possible causes. Nick’s mother, whom you know, like many other parents of children with autism, holds the belief that vaccines caused the condition. And what is your position on that?
DR. TIMOTHY BUIE: I think there isn’t support, right now, that vaccines cause this condition.
ROBERT MACNEIL: There is not support?
DR. TIMOTHY BUIE: There is not support. There have been studies that have tried to look at the various mechanisms that vaccines might be a factor in causing autism. There are several studies that looked at the MMR vaccines and look specifically at the measles virus, in particular, that has been raised as a hypothesis and haven’t been able to support that premise.
There have been, I think, many studies, now, that have supported the idea that thimerasol as a preservative, which is a mercury-containing preservative in many vaccines, has not a link that can be really traced well. Do I feel like we can exonerate vaccines completely yet? I don’t think we should stop looking. I think we need to consider the possibility that it may have a factor. I think we need to look at the possibility that other environmental factors might have a play in bringing out this condition.
And I think we have to consider all possibilities because we don’t know what has been going on to account for this increased prevalence. We certainly are better at recognizing the gene factors that might be going on. We now know that there are over 100 suspect genes that are associated with a higher frequency of autism. So there is clearly an underlying genetic predisposition to this condition in many children. But the possibility that there is some environmental factor or some extrinsic factor that affects those children, I think, still needs to sit on the table.
ROBERT MACNEIL: Is the possibility still valid, in your view, that there could be a small cohort of children who have a genetic susceptibility to having a toxic reaction to vaccines?
DR. TIMOTHY BUIE: I think so. I think, certainly, our experience with pertussis and the original pertussis (whooping cough) vaccination … a reaction that’s caused the subsequent seizure disorder or another neurological deterioration is a historical point that we have to look at. And I think those kinds of experiences have made us look at that. There’s one child in the vaccine court cases that was evaluated, and it was a suspicion, very strongly, that her mitochondrial disease was, in fact, brought out by a reaction to her vaccination. And so I think there are mechanisms that we haven’t vetted very well that I think remain possibilities.
But each time – and I want to caution – each time we look at a particular proposed mechanism for how vaccines might account for the development of these problems, we haven’t been able to support a causation or a link.
ROBERT MACNEIL: You, in fact, were part of a team that tried to replicate the experiments that became notorious, by the British researcher Andrew Wakefield, who claimed to have found that the MMR vaccine did cause intestinal damage. And you were not able to sustain that, and his findings have since been discredited. He’s even been accused of fraud in his results. Do you think that research should continue?
DR. TIMOTHY BUIE: I think that, that research has been pretty well pursued. And our group has looked for measles virus in the gut as a way of trying to replicate the work that he had done. Epidemiological studies have looked pretty clearly at the possibility of vaccine and response post-vaccine, and haven’t been able to support that pathway. I think that pathway has been pretty well mined.
I think it’s unfortunate that there’s a lot of debate about how to deal with the Wakefield information. You know if, in fact, [he was fraudulent in] his information, I don’t think he’s a hero to anyone in the autism community. I think it’s very important — and most of us who are invested in taking care of these kids want to do the best we can. And doing clinical research is profoundly difficult. And I’m very sympathetic with how hard it is to try to really follow through those individuals.
Our study that was published by Mady Hornig a couple years ago was a very difficult study to complete. It took us about five years to try to replicate that information. So I’m not sympathetic with trying to falsify data or make your data look better. That’s not what research is. That’s not what science is. And so I’m very sympathetic with the families who want us to pursue that and try to give better explanation to why their children have gotten worse. But doing the research is pretty slow, sloggy kind of work.
ROBERT MACNEIL: Where have you arrived in trying to get your mind around a cause for autism?
DR. TIMOTHY BUIE: I don’t have my mind around a cause for autism. I think there’s a lot to consider. And I think that my best way of describing it is to steal other people’s suggestions about autism, and that is that this is not autism; this is autisms. There are many pathways here and so we’re not going to find a cause. We’re going to find a bunch of different pathways that can bring a child to the place that they have these clinical features. And some of those children may well do well if they’re recognized to have electrical abnormalities or a seizure disorder, and have that seizure disorder treated.
We’ve seen children who, when that’s dealt with as a medical phenomenon, have better language, sleep better, make better progress. And so we know, for that subgroup of individuals, that there clearly is a factor that’s accounting for their worsening. We may well find that a subgroup of those children are the mitochondrial children who’ve got a better explanation for why they’ve come to that common, end pathway of that presentation. And some of those children will respond to mitochondrial treatments — things that will help provide better energy to those cells.
So I think that as we do a better job, kind of, parsing out the groups of children and what they may well have as a component of their condition, we’ll do a better job. I certainly think, in the same way that vaccines may not be the factor, I think that it’s very hard to throw out some data completely because of overall studies. And if you will, one example of that is diet. There has been a lot of speculation that a milk-free or a gluten-free diet might be a help for some children.
And the common press really loves that story and they really want to tell those tales, where children who went on those diets did better. I think those are wonderful anecdotal stories, and I have no doubt that there are individuals who do those dietary interventions who do better. I see it all the time. But we also know that if we apply that diet and say to all families with children with autism, you should try that gluten-free, casein-free diet because your child would do better, the studies show that, that won’t work.
So diet is another example where I think there will be a subgroup of children who will do really, really well and maybe show improvements both with regard to their diarrhea or gastrointestinal symptoms, but also their general progress, but there will be other children who have absolutely no response to that dietary intervention at all.
ROBERT MACNEIL: Where are we now in our understanding of autism? Some people we’ve spoken to said we’re on the verge of momentous discoveries; other say we’re only scratching the surface. What do you think?
DR. TIMOTHY BUIE: I think we’ve scratched deeply into some surfaces. I think, certainly, we have a much better understanding about the ways that we can do genetic research. And so as we get better at how we test for particular genetic defects, we’re going to have some more clear-cut answers. I think that we’re better, without question, in how we manage children with autism. We, in the United States, are diagnosing children much sooner than we did before.
The mean age of diagnosis has dropped more than two years in the last 10. And because of that, we’re intervening on those children, both with regard to their medical supports, as well as their educational supports. And I think that’s why we can have a lot of hope about who these children do. Because we recognize their problems early, we’re acting upon their problems much sooner. And I think we’re doing better because of it.
ROBERT MACNEIL: As a public health issue, what needs to be done that is not being done?
DR. TIMOTHY BUIE: I think that one of the most significant and imperative public health pieces is that we need to find a way to fund pediatricians to take care of these children. We work in a society that compensates physicians inequitably. And we may pay a pediatrician who needs to take two hours to see a child in the developmental office the same amount of money that we pay another pediatrician to check an ear after an ear infection.
ROBERT MACNEIL: In other words, an office visit.
DR. TIMOTHY BUIE: An office visit. So these children who need a lot of time — and even for their follow-up office visits, to check in on their wellness, it may take 30 minutes to bring the child into the appointment room. The doctors are in no way supported to be able to do that. They’re going to make the same amount of money that it would take five minutes to see a follow-up kid with an ear infection.
And so until we recognize that we need to compensate and support the caregivers a little bit better and know that the need for them to take more time is going be there, I think we’re going to lose a lot of people who would be taking care of these individuals.
ROBERT MACNEIL: In other words, it’s a disincentive for pediatricians in training to go into this field?
DR. TIMOTHY BUIE: Absolutely. And we see it in our developmental clinic. We, at the Lurie Center, which is one of the, I think, premier clinical providers of autism in the country – we have developmental pediatricians who come. They’re very motivated. They want to see these kids. We have a backlog of over a year to see kids and evaluate them and help diagnose them. It’s very difficult for any of these clinics to follow these kids and help advise through their progression.
We’re trying very hard to just get kids in to see them and diagnose them and get them referred for their care. But those developmental pediatricians recognize full well, after a year or two years, that they can’t possibly support themselves as well as they could have if they were a general pediatrician. So they come; they work; they burn out; and they move on.
ROBERT MACNEIL: What would it take to change that?
DR. TIMOTHY BUIE: I think it would take underwriting the way that we give care, to some extent, or recognizing in the way that we reimburse that there needs to be a time factor included in reimbursement. And that’s not highly motivated in the insurance companies right now. They prey on efficiency and they think that we’re somehow inefficient if it takes us more than X minutes to bring a patient through the system.
ROBERT MACNEIL: Are gastrointestinal issues in the general population, not just children with autism, increasing?
DR. TIMOTHY BUIE: I think we’re recognizing some conditions to be increasing for various reasons. For instance, celiac, as we’ve now got a better ability to make the diagnosis with antibody testing and with genetic testing, we have found that there’s a much higher frequency of celiac disease than we used to believe. And so we recognize celiac to be more common. I’m not sure that it actually is more common, but we find it better.
Other conditions, we think, are on the rise. And one condition that’s, I think, a very important condition is chronic inflammatory bowel disease – Crohn’s disease. We do see that condition on the rise, and when we look at the prevalence of disease conditions that are on the rise, it holds a fairly similar trajectory to conditions like autism. It absolutely has a higher frequency.
ROBERT MACNEIL: Do you think there’s — is there something that we should be looking into on that level?
DR. TIMOTHY BUIE: I think it’s a very interesting issue. I mean, the slide that Martha Herbert shows and that was originally in the journal of the American Medical Association a few years ago was a slide that showed that as there has been a decline in infectious diseases, there was a significant rise in a variety of conditions.
So as measles has decreased, as chicken pox has decreased, as all of these other conditions that we now vaccinate for have come down, we now see a rise in conditions that often have autoimmune linkages. Crohn’s disease is one of them; diabetes is one of them; autism, although not linked to autoimmune conditions, is on the rise with that prevalence. So whether that’s related and whether that has something to do with the overall intestinal hygiene or other bacterial exposures or our immune environment, I think, is a very hot topic right now.