Career studying attention-deficit/hyperactivity disorder earns world renown

Host Amber Smith: Upstate Medical University in Syracuse New York invites you to be The Informed Patient with the podcast that features experts from Central New York's only academic medical center. I'm your host, Amber Smith.

A world-renowned ADHD researcher from Upstate is ranked as one of the top 80 scientists in the world, largely because of the volume of his research into attention-deficit/hyperactivity disorder.

Dr. Stephen Faraone is a distinguished professor and vice chair of research in psychiatry and behavioral science at Upstate, and he serves as the president of the World Federation of ADHD and the editor of the journal Neuropsychiatric Genetics.

Welcome back to "The Informed Patient," Dr. Faraone.

Stephen Faraone, PhD: Thank you, Amber. Nice to be here.

Host Amber Smith: Your bachelor's degree in psychology came from SUNY Stony Brook. Did you go into college thinking that you wanted to become a research scientist?

Stephen Faraone, PhD: I did not. Not at all. No, when I went into college, my first major was in comparative literature, and as I was taking some other courses to round out my liberal arts degree, I became interested in psychology, and I, more and more that as that interest developed and also became interested in the, I would say, scientific side of psychology, I was drawn to that and then decided to seek a graduate degree in clinical psychology after my undergraduate years.

Host Amber Smith: So the classes you took just interested you, and you followed where your interests were.

Stephen Faraone, PhD: That's really what happened, yeah.

Host Amber Smith: So then how did you choose the University of Iowa for your master's and your doctorate in clinical psychology?

Stephen Faraone, PhD: The truth behind that is, I was a poor student at the time, and they offered me the best financial package, (laughs) including one year where essentially they would pay me, but I didn't have to work at all for the pay.

Frankly, that's really what it was.

My first choice was actually to go to Purdue because there was a psychologist there I wanted to work with, and I did get accepted to Purdue, but they didn't make me as good a financial offer. So I went to University of Iowa. But after I finished my graduate work there four years later, that person I had wanted to work with had moved to Brown University, and I ended up doing my internship at Brown. So we ended up working together after all ...

Host Amber Smith: Oh, very good.

Stephen Faraone, PhD: ... and actually became lifelong friends as well. So it's a nice kind of story.

Host Amber Smith: At what point did you start getting involved in research? Was that in Iowa or at Brown?

Stephen Faraone, PhD: No, that was in Iowa. What I liked about the University of Iowa was a psychology program that was essentially oriented to producing what they would back then would call the Boulder Model psychologist, which was a classic kind of clinician that was also a good researcher but also had good clinical training. So that's where it started. And it only intensified at Brown because Brown had an internship, which, unlike most internships, allowed for us to do some research as well and continue that work.

Host Amber Smith: So what is it about science in general, and research in particular, that you like?

Stephen Faraone, PhD: The first thing is that you have a method whereby you can ask an interesting question and actually get an answer to that question. And if you're working in a field like mental health, you can get an answer that actually helps people.

And that's very rewarding. It's also rewarding to actually help people. And I used to practice as a clinical psychologist, and I don't mean to, by any means, put that down. That's a great profession to go into. Any kind of mental health profession where you're working one-to-one with people is a wonderful thing to do.

But literally, by doing research, instead of helping maybe under a thousand people in your lifetime, you can help millions -- millions -- of people by the dissemination of the work that you do. That's really one of the reasons why I ended up becoming a full-time researcher as opposed to a part-time researcher, part-time clinician.

Host Amber Smith: You've published more than 1,500 journal articles, and you're one of the scientists who are most frequently cited by other scientists. Did you ever dream that you would have so much influence as a researcher when you got started?

Stephen Faraone, PhD: (laughs) No. When I got out of graduate school, the big worry was, would I have enough data to publish papers on?

I never thought we'd have so much productivity. Now, of course, people have to understand that productivity is not just me, it's me and teams of people, teams of researchers. In some cases, some of my articles have 10, 15, 20 or more co-authors. So I would say that my influence in the field has been being able to surround myself with people that are also good and that we can produce work that is good enough that other colleagues will cite it and use it in their own work.

And that also was rewarding, and it's a very nice kind of benefit -- not benefit, but accolade -- if you hear from your colleagues that they cite your work and say, I think, it's important enough to actually influence their own work. That's a great thing.

Host Amber Smith: Which do you enjoy more: doing the actual research or sitting back and writing about it for a journal?

Stephen Faraone, PhD: I like the planning part and the disseminating part. The actual doing part, I don't like as much. It's OK, but the actual implementation part is ... in fact, in my career I've, when possible, (laughs) I've found other people that could do that, who like to do that more. I like the planning and the dissemination part mostly.

Host Amber Smith: Like you said, it's a team effort.

Stephen Faraone, PhD: It's a very big team effort, especially these days. Any kind of big science. Our Genome Wide Association Studies of ADHD, which now comprise upwards of 50,000 research participants, there's probably at least a hundred authors on that paper.

And that was an international consortium from around the world that put that together. I had the privilege to lead that consortium for about two decades. But it would never have gotten anywhere if we didn't have all these people participating. And with all sorts of expertises, like statistical genetics or clinical assessment and many more.

Host Amber Smith: You've become known all over the world for your expertise in ADHD. What sparked your interest to begin ADHD research?

Stephen Faraone, PhD: It's hard to believe that, and this is a lesson for some of the young people out there, that a lot of the directions you take in your life sometimes occur by happenstance, not by out-and-out planning.

We tend to think, oh, we can guide our lives, and we can plan everything out, and you can. But sometimes happenstance pushes you in different directions. And I was a young faculty member at Harvard Medical School back in the early '80s, and I was working mostly in a group that was doing work in schizophrenia and bipolar disorder and largely in family studies and genetics.

And during that time a another young faculty member at Harvard, who was at the Mass General (Massachusetts General Hospital), came to our group and actually went to my mentor at the time, Ming Tsuang, and said, "Hey, I need your technical advice about this grant proposal I'm putting in." And he was studying kids, he was studying ADHD.

His name was a superstar.

I would vet people for him, say, is this person worth talking to or not? And if I thought they were worth talking to, he'd interview them. And this was my colleague Joe Biederman, and I said, yeah, this guy is definitely worth interviewing. You should do that.

And he came down and we met with him, and he just was very influential in getting me to turn my sights away from adult psychiatry into child psychiatry, for a few reasons. One of which was that child psychiatry back then was relatively undeveloped as far as research, compared to adult psychiatry.

They were, I would say they were way behind in terms of solid, empirical knowledge about the disorders they were studying. So I saw a real need there. And then in my friend Joe, I just saw a colleague that I know I could work with and probably do some really good things together. And that turned out to be true because we ended up working together for almost 40 years before his, actually, his death, just a few weeks ago, ended that.

But it was a good example of how happenstance can change your career for the better.

Host Amber Smith: This is Upstate's "The Informed Patient" podcast. I'm your host, Amber Smith. I'm talking with Upstate's distinguished professor Stephen Faraone. He turned up in a ranking of top scientists by the website research.com. He's No. 80 worldwide and No. 57 nationally, and that's based on the number of publications and citations and some other factors.

Dr. Faraone, you've contributed to the understanding of genetics and ADHD. What were your most important findings?

Stephen Faraone, PhD: What surprises me the most is that even after four or five decades of accelerating research, there's still a lot of misunderstanding and stigma about the disorder out in the community, out on the internet, out on TikTok, where you'll get people just saying things that are just untrue about ADHD.

It's been a lightning rod for some of the anti-psychiatry forces, and that sounds Darth Vader-ish, I say anti- psychiatry forces, but I guarantee, you just Google "anti-psychiatry": You'll find many websites that are devoted to saying why psychiatry is bad, and they frequently choose childhood disorders because kids are vulnerable, and so they see that as a better way for them to recruit more people to their cause.

It's really amazing. The child psychiatric disorders, like ADHD, are as well validated as any psychiatric disorder, are as well validated as most medical disorders. And yet they continue to be stigmatized. And any listener out there who has any thought that ADHD, or any childhood disorder, somehow not real or some kind of crazy invention of psychiatry, it's just not true.

I'll send them to my website, adhdevidence.org, where I curate evidence-based information about ADHD, including an international consensus statement by leaders around the world.

That's continually the biggest surprise in my career about ADHD.

Host Amber Smith: You've contributed to the understanding of genetics in ADHD. What were your most important findings?

Stephen Faraone, PhD: I would say the most important finding was this very big group finding that required so many scientists from around the world that we could finally document with information from collecting DNA samples from people with and without ADHD that there were clear genes, that it was very clear to us, without any uncertainty. In the past there's been lot of uncertainty about which genes might be involved, but now we have certainty that at least we know 27 of the genes that are involved in ADHD.

And when I say certain, meaning the likelihood that would be overturned by future research is almost zero. In addition, this probably is maybe in terms of the most interesting scientific fact that ADHD that I've learned, is that ADHD is highly polygenic.

And what we mean by that is, back in the '80s, we thought maybe there'd be one, two, three, four genes that can account for ADHD. And if so, that would help us find treatments. Maybe even prevent the disorder by knowing who's at high risk and not at high risk. Turns out from this last paper, which just came out in Nature Genetics, that we now estimate there are probably 7,000 genomic loci that regulate ADHD.

Now I say genomic loci, not genes, because some parts of our genome aren't actually genes. They're parts of DNA that regulate other genes. I'll say genes as a shorthand, but the main point is that it's not one, two or three or 10 or a hundred. It's maybe it's as many as 7,000 is our current estimate. And that creates difficulties because it means that it's not going to be simple to track out a pathophysiological pathway or to take it into drug development, but it does have some implications for how we think about the nature of ADHD as a disorder.

Host Amber Smith: You received a Book of the Year Award in 2003 from the American Journal of Nursing for your book "Straight Talk About Your Child's Mental Health: What to Do When Something Seems Wrong." Are there lessons on those pages that would still apply to parents today, 20 years later?

Stephen Faraone, PhD: Oh, absolutely. I think the main thing I would say to parents is that if they suspect that their child has a mental health problem, they need to, as soon as possible, bring it up to their pediatrician. If their pediatrician won't deal with it, or it seems to not be able to deal with it effectively, then you need to find specialist care, which would mean a child psychiatrist. That can be difficult or impossible in some areas of the country, I realize.

But it is really essential that the treatment be sought and that it'd be sought soon, that if you wait -- a lot of parents will say, "We can wait and see how this goes." And again, that's part of the stigma about mental illness. You'd never say that about cancer, right? If your child was diagnosed with cancer, you wouldn't tell a doctor, "Let's wait and see how it goes before we give them medication."

But yet we say that a lot. Not me, but many people, say that about psychiatric disorders. So seek treatment and seek it soon, because otherwise, every year your child's not treated, there's one more year that they're living with disability, that they're not achieving in school, that they're not making friends, that they're perhaps associating with the wrong kinds of friends and so forth, exposing themselves to substance use risk, to many potential problems.

Host Amber Smith: We hear about ADHD in relation to kids a lot, but you're part of a steering committee to develop guidelines for diagnosing and treating ADHD in adults. Can you tell us more about that process?

Absolutely. A few years ago, a group of us got together, and we started the first stage of this, where we got some experts together, and we came up with indices of quality care for ADHD in adults, and we needed to do that because they just didn't exist at all in the United States.

We subsequently ran a big study of something like over 70,000 medical records of adults with ADHD in a collaboration with the American Academy of Family Practitioners, and we found out that although quality care had improved over the past decade, from 2010 to 2020, there were still large gaps in quality care. And for that reason, we thought we really need to get a group together and come up with systematic guidelines that could help particularly people in primary care, where we think the biggest problems occur, but even to some degree in adult psychiatry.

Because again, part of the stigma of ADHD -- it is just literally hardly ever taught about in medical schools, in residencies (physicians' training), in adult psychiatry. If you ask at a meeting to people who are adult psychiatrists, "How many of you got more than two hours of lectures about ADHD?" almost nobody raises their hand.

They learn a lot about depression, a lot of about schizophrenia, a lot about other disorders, but they hardly learn about ADHD. And when doctors don't learn about something, they're uncomfortable treating it. And patients suffer.

When you're asked what causes ADHD, how do you respond to that?

Stephen Faraone, PhD: I say that there are many causes. I say that it's unusual that only one thing causes ADHD in a given person. That can happen, but it's very rare. There are some very rare genetic variants that do that. There's some rare environmental circumstances, like extremely adverse environments, but for the most part, most of what we call common ADHD, like 99% of the cases, are caused by the accumulation of many risk genes, but also many environmental risk factors as well.

Host Amber Smith: What can you tell us about the book "The Misunderstood Mind," that you're currently working on with journalist Katherine Ellison?

Stephen Faraone, PhD: We're not actually working on it. We've got a concept for it. We're trying to raise funds to actually write it.

And if we raise enough funds, we'll write the book. The idea there is really to write a book that focuses a lot on the stigma of ADHD and unraveling what are the reasons for that stigma, a little bit of the history of the attacks on ADHD by the anti-psychiatry movement and why those are wrong, and what parents and patients can do to really improve their lives if they or a loved one has ADHD.

Host Amber Smith: You mentioned your website, adhdevidence.org, where you post responses to some popular questions about ADHD, so I'd like to ask you a few of those questions now and get your response.

The first is, what are the most effective changes people with ADHD can make to improve their lives and management of ADHD?

Stephen Faraone, PhD: First one is to adhere to whatever treatment is prescribed by your prescriber, be that a psychologist, a psychiatrist, a primary care doctor. One of the biggest problems in ADHD is people forget to take their medication, or they don't adhere to their therapist's guidelines for how to approach their cognitive behavior therapy.

If you don't take your medicine, or if you don't follow your therapist's guidelines, you're not going to be able to improve. I would say that's really the most important thing that a person could do that has ADHD.

The second most important thing would be to keep in mind that ADHD does not define your life, does not define you as a person. You are not an ADHD person. You're a person that has been diagnosed with ADHD. But that means there's many other things about you that, including some strengths that you have as a person, that you need to discover if you haven't discovered them.

And therapy can help you with that if you don't know them already, and find those strengths and use them to make your life a better life because although your ADHD would make that more difficult than (for) the average person, it by no means makes it impossible. And there are many people with ADHD who live productive and happy lives, especially when they have effective treatment.

Host Amber Smith: What suggestions do you have to help an adult heal from the stigma from being judged and bullied since childhood for the ADHD symptoms?

Stephen Faraone, PhD: This is where the medications don't help.

The medications are good for the symptoms of ADHD, but for these other kinds of problems, that's where a good therapist can help a person. I always suggest cognitive behavior therapy because there are cognitive behavior therapies that have been devised and tested specifically for adult ADHD.

And with a good, competent therapist, they can help you work through not just your ADHD problem, but other problems of the sort, Amber, that you're talking about.

Host Amber Smith: How helpful is caffeine in helping a person focus? And are there any particular foods that are helpful or harmful for someone with ADHD?

Stephen Faraone, PhD: Caffeine is not helpful for ADHD.

It will help you stay awake, like most people, have that kind of an effect, but it's not going to, and studies have looked at this, it's not going to help ADHD symptoms dramatically, if at all. There are really no foods, there's no diets that are good for ADHD.

The only nutraceutical that's shown some hope as a treatment for ADHD are the omega-3 fatty acids, and there, clinical trials, very good clinical trials, have shown that omega-3 fatty acids, particularly those that have a higher dose of EPA versus DHA, in them, because there are different kinds of fatty acids, they're not all the same, have a small effect on symptoms. By small, I mean on a scale of one to 10, their effect might be a two, whereas an ADHD drug is more like a nine. So it's a very small thing.

That doesn't mean that for some people they might have a big effect because that's the average effect, but I'll say to anybody that's trying omega-3's before medication, it's OK to try them. But if they're not working for you in a few weeks, you need to find appropriate treatment, for sure. The probability of them helping you is not very high.

Host Amber Smith: Can you explain what are data-driven computational models, and do you have any projects using them?

Stephen Faraone, PhD: Yes, I do. Yeah, that's a mouthful. That particular nomenclature came from the National Institutes of Mental Health, and what it refers to are groups of models, sometimes known as machine learning or deep learning, artificial intelligence models that use big data sources, such as maybe 10 million medical records that are available through different data sources, to crunch that data to solve problems. In my case, problems in mental health or problems in genomics.

So we're doing that, yes. We have some projects. I have a graduate student -- actually he just graduated, so now he's a postdoc -- who developed a data-driven computational model called a convolutional neural network to help use genomic data to try to predict who has diabetes and who doesn't have diabetes.

And we focus on diabetes because we're involved in a big consortium that's looking at looking at the risk of somatic (bodily) disorders among people with ADHD. And we have a number of projects like that. We have a paper we're working on where we're looking at ADHD infections, including COVID-19. And we can use these data-driven computational models to make predictions about who's at highest risk for getting infected.

Our group was part of a big CDC (Centers for Disease Control and Prevention) project where maybe 50 more groups around the country developed these data-driven models in the early days of the pandemic to try to predict what would be the incidence ratios of COVID-19 in different counties or states around the country.

And these were all combined into a very large ensemble model because every model was good, but when you put them all together, they're actually better. I was happy that we were able to contribute to the CDC effort in doing that.

Host Amber Smith: So are these projects more reliable because they deal with bigger numbers?

Stephen Faraone, PhD: The fact that they deal with bigger numbers means they have a lot of what we call statistical power, so when we find something, we can be pretty sure that it's a solid finding. And that's the best thing.

In some cases, these types of models that we're looking at are more advanced than, some people in the audience might have heard of traditional statistical models like linear regression, and these are good models, but they're only useful when you know what question you want to ask, for sure. But sometimes, you want to do what's called exploratory data analysis. You want to search a big database to look for patterns that might be interesting and useful that you wouldn't have thought of otherwise.

And these data-driven models can do that. They can take huge amounts of information, and they can combine them in very complex ways to find patterns that are predictive of important outcomes, such as when or which kids with ADHD are at highest risk of substance abuse, or which patients are most likely to become suicidal in the next three months.

Those are the kinds of questions that we and others are asking with these data and models.

Host Amber Smith: What advice would you give to a young person who's interested in science today?

Stephen Faraone, PhD: I would say that to be effective in science, you have to be somebody who likes the idea that they can ask a question, and they can get an answer to it.

They're curious about the world. I would advise young people, let's start with kids, right? Young kids are very curious by their nature. We know that from just observing how they interact with the world. Unfortunately, as we get older, boy, that native curiosity sometimes gets beaten back by society, which kind of wants to funnel us in this direction or that direction. Instead of making us curious about the world, it really just makes us want to focus on, "I want to get this goal." And not that that's wrong, some people are very goal driven, and that's OK, and they don't see the rest of the world.

But if you want to be a scientist, you really have to be curious about the world around you and to kind of be willing to live with the uncertainty that goes with that.

Now, the other thing I will say is that, this is really plus anything you'd want to do, that you have to do something. You have to work in an area that you feel some passion for, that something about it just lights a fire, and it could be a fire that's lit for all sorts of reasons.

It could be that you just find it fascinating, almost from a puzzle point of view. It could be that you feel a real need, that you want to help a certain kind of patient, maybe because you have a brother who has autism and you really want to work on autism, or a parent with Alzheimer's disease.

There's lots of ways that one becomes passionate about a field in science, and I would say all the people I know that are successful have some kind of passion that has driven them to do what they do. And it's not a 9-to-5 job. It's the kind of thing where it's work that you do it because you really love it and enjoy it. Not that you can't have a life outside of science. Of course you should and can, but it's not a 9-to-5 job.

Host Amber Smith: Dr. Faraone, thank you for making time to talk with us.

Stephen Faraone, PhD: Always happy to do it. Look forward to it next time. Thank you.

Host Amber Smith: My guest has been Dr. Stephen Faraone. He's a distinguished professor and vice chair of research in psychiatry and behavioral sciences at Upstate, and he serves as the president of the World Federation of ADHD and the editor of the journal Neuropsychiatric Genetics.

"The Informed Patient" is a podcast covering health, science and medicine, brought to you by Upstate Medical University in Syracuse, New York, and produced by Jim Howe.

Find our archive of previous episodes at upstate.edu/informed. This is your host, Amber Smith, thanking you for listening.