What You Need to Know About Autism (and the Effort to Better Understand It)

Dr. Kevin Pelphrey, the inaugural Carbonell Family Professor in Autism and Neurodevelopmental Disorders and director of the Autism and Neurodevelopmental Disorders Institute (AND Institute).

Dr. Kevin Pelphrey, the inaugural Carbonell Family Professor in Autism and Neurodevelopmental Disorders and director of the Autism and Neurodevelopmental Disorders Institute (AND Institute).

In February, GW announced that Dr. Kevin Pelphrey would join the university as the inaugural Carbonell Family Professor in Autism and Neurodevelopmental Disorders and director of the Autism and Neurodevelopmental Disorders Institute (AND Institute). The positions and institute were established thanks to the generosity of GW Board of Trustees Chair Nelson Carbonell Jr., BS ’85, and his wife, Michele, as well as partners such as Children’s National Medical Center.

 In recognition of April being National Autism Awareness Month, Dr. Pelphrey sat down with us to talk about autism, the AND Institute, and the work he plans to accomplish. (This interview was edited for length and clarity.)

 

How did you first become interested in studying autism?

I started out with an interest in brain development in general, and my work only touched on autism a little bit while I was a graduate student at UNC-Chapel Hill. I published this paper on using eye tracking to see where people with autism looked when they’re looking at faces, but my focus back then was really on studying basic, or typical, brain development.

I was doing a post-doc on that when my daughter was diagnosed with autism. That diagnosis brought me back to being very, very interested in autism. I decided to apply what I knew about basic brain development to autism specifically and neurodevelopmental disorders more broadly. Autism is a really interesting, complex problem within science, and it has a direct application to my daughter and people like her, so I’m very fortunate to have those two sort of come together—it’s a very personal as well as professional interest.

 

Autism has a much lower incidence in girls than boys—is that right?

Yes, the number of boys diagnosed with autism is currently five times the number of girls. Actually, in all neurodevelopmental disorders, including autism, the prevalence rate is lower in girls versus boys, and the reason why that’s the case is one of the big questions we’re addressing. It looks increasingly like what’s going on in girls is that rather than being at a reduced genetic risk, they are at an equal genetic risk for autism at boys, but something about the way their brain develops and their social environment and how the two combine helps protect girls from expressing that risk.

That’s an important distinction because if that’s accurate, then the way in which girls avoid autism could tell us about how to help both boys and girls avoid autism. If we can understand the signature of the risk, develop an understanding of the mechanism for avoiding autism, and steer those at risk towards typical development, then we could combine that information and prevent cases of autism from emerging.

 

So it’s possible to avoid developing autism?

Oh, yes—it’s more of a new concept, but yes.

 

It might surprise people that autism isn’t an inevitable biological development that will manifest itself regardless—how can it be avoided?

Everyone has genetic factors that predispose them to certain disorders and diseases. The simplest example of that is probably heart disease: There are some people who have a genetic configuration to have heart disease no matter how carefully they eat or how diligently they exercise, and then there are people with almost no genetic risk who might eat greasy food every day and smoke and not exercise and still not get heart disease. But most of us are somewhere in the middle, where our odds of developing heart disease is heavily influenced by a number of factors.

For autism and other neurodevelopmental disorders, there are certain people who have a massive genetic hit who are going to develop autism no matter what, and the other side of that is those who have almost no risk to develop it. For those individuals with the genetic risk in the middle, they will either lean towards typical development or towards autism depending on a number of environmental factors.

 

So it’s not just about genetics?

There is no gene or set of genes that’s specific to autism or any other neurodevelopmental disorder. It’s more that you have a genetic risk for neurodevelopmental disorders. Studying the developmental period from fetal development all the way to adulthood is the only way you can look back in retrospect and understand how someone developed autism or other neurodevelopmental disorders. Genetics are never fate.

It’s an interactive, developmental process that continues all the way into adulthood, and there’s no reason to believe at this point that the brain mechanisms at play that bring about autism are unmalleable at any point in development, including in adulthood. Empirical data suggests that you could be 60 and still benefit from the right intervention; it looks like we can actually develop treatments for adults that would reverse some of the symptoms and brain differences in autism.

 

What does serving as the inaugural Carbonell Family Professor in Autism and Neurodevelopmental Disorders mean to you?

It’s very exciting, and it also feels like a gigantic responsibility, but one that I’m very excited about. To be frank, when it comes to named positions, the person the position is named for is usually already deceased. So, having someone give you that opportunity and being able to show them what I’m developing in their lifetime is really gratifying.

I’ve wanted this kind of opportunity my whole adult life because it gives me the ability to build something that might outlast me. I want to build a program that becomes the best in the world for understanding and treating and helping people with autism. I look forward to meeting the institute’s next director and carrying on for as long as it takes for autism to be something that’s as readily treatable as near-sightedness.

It also gives me the opportunity to bring along junior faculty who will become leaders in the field. That’s not something I’ve had the opportunity to do. I’ve been focused on building my own career, but now I’m at the point where I can actually begin to help more junior colleagues build their careers, and that’s extraordinary.

 

What attracted you to this position?

The opportunity to build a program from the ground up is always attractive, but to do so in the context of a very, very supportive university is special. The idea that the entire university would be on board with this effort—starting from the top with President Knapp and the Board of Trustees—is unheard of. I don’t think that’s ever happened before. Every other group that studies autism will be at a university where certainly the administration appreciates the program, but it’s not a central priority of the university. It is here, and that’s amazing. Being in D.C. and all that means was definitely a big draw also.

 

You say D.C. was a big draw—what excites you most about working in Washington?

Being able to access all the families that live in D.C., Maryland, Virginia, and West Virginia— that’s incredible. You get a representative population sample of people with autism quite readily. I was reading that about 30 people a week move into Northern Virginia, and if you think about the base rate of autism being 1-in-68, that means every other week you have a family with autism moving in. We will be the place to go to for services and research for all those families.

We want to leverage the unique opportunities of GW and its location in D.C. Here, we can literally walk just a couple blocks and provide testimony before Congress and share research outcomes with policymakers. We also have incredible proximity to organizations like the National Institutes of Health (NIH) and are able to team up with important partners like the Children’s National Medical Center.

 

Why is a partnership with an organization like Children’s National so important?

Having access to a world-class hospital that provides services to people with various neurodevelopmental disorders is important because what we develop research-wise at GW can then be rolled out directly. Children’s has the infrastructure to provide treatments and conduct trials, and that’s what that hospital is really good at. It also gives us the opportunity to study and work with patients along the full spectrum of autism, from high functioning to kids that require inpatient hospitalization.

The other important thing there, which is too often understudied and underappreciated in autism, are all the associated medical conditions that come with the disorder: epilepsy, a lot of gastrointestinal issues, sleep problems, and an increased risk for some forms of cancer, just to name a few. Partnering with a hospital is very important in being able to address those medical needs that go hand-in-hand with some of the more obvious needs like the communications problems and social deficits. Often times those medical needs are actually the things families are most concerned about when they come to us, so having a hospital to partner with is very important to addressing that.

 

What’s your vision for the AND Institute?

The broad vision is to be the world leader in clinical and research efforts within autism. We’re going to be here to do the critical research that’s needed: from the level of molecules and neurons and genetics all the way up to social environments. At the same time, it’s important that we have the clinical structure to support those same people we’re working to help through our research.

We want to be able to follow people with autism and serve them “longitudinally”: from diagnosis, through development and adolescence, and into adulthood. Clinically, we want to have the services to provide diagnosis and recommendations, work with school systems, and even help to bridge the transition between high school and the rest of life, which right now is a falling-off cliff for people with autism.

The AND Institute will become the destination for families with autism—from suspected autism in very young toddlers to confirmed autism to someone who is just receiving their diagnosis in adulthood.

 

How can members of the GW community support your mission?

I think raising awareness about the institute is a huge thing—just talking about the existence of the institute would be very valuable. The more people they can tell about us, the more we will succeed and really get the reputation for being the go-to place for autism research and clinical efforts. Volunteering their time to lobby for us, not in any formal capacity, but just calling your senator or talking to your congressman or congresswoman and saying “this is something that’s valuable to us” is very, very important as well.

It’s also important for us to find opportunities for our families to connect with businesses that have or can start a program to help a young person with autism who is making a transition out of high school into young adulthood. If you own a business that can place these young people in an internship or a job opportunity or something like that—that’s a huge. A lot of your readers are the type of person who has that ability.

Our faculty will be working hard to secure collaborative grants to fund research, but what we’re planning to do goes beyond what just that funding can support. The GW community will play a key role in helping us to do research and build innovative clinical programs that aren’t readily fundable by grants from organizations like the NIH—the more people who can step in and support our efforts by making a gift, the more people we can help.

 

What kinds of opportunities will there be for GW students to work with the AND Institute?

There will be courses for GW undergrad and graduate students related to autism, but they’ll be participating in research, as well. We currently have about 100 faculty and researchers who study various levels of autism across six different schools here at GW. Bringing all these people together to create this one-stop shop where you can walk in the door and gain access to all these individuals and they can access each other—that’s a tremendous opportunity for students to engage with experts in a variety of fields and participate in autism research.

We want students to be exposed to all the levels of analysis that the different researchers are doing so they’ll see how it all fits together. Understanding how the DNA research relates back to the brain imaging, the behavioral outcomes, and the health questions will provide our students with a strong base of understanding that will help fuel their passion for research. Students who don’t understand how everything fits together often fall off and don’t pursue things further, and we don’t want that to happen.

 

What is the biggest misconception of autism that you would like to set straight?

For many years it was the vaccine issue—hopefully that’s done and doesn’t even deserve mention anymore. Now, the biggest misconception is probably that autism is just one thing. The technical name is autism spectrum disorder, and there’s a reason for that: it’s to capture that diversity. If you’ve met one or a few people with autism, that doesn’t characterize all people with this disorder.

A lot of high functioning folks with autism may not need much or any help, but there are whole other groups who are devastated by autism. One thing we need people to understand is that what is best for one group of people with autism isn’t necessarily what’s best for another—one solution is not going to help all individuals. The science is saying that not only is this obviously true in your interactions with different people on the autism spectrum, but that the underlying causes are multiple, that there are probably a 1,000 different disorders represented by this label, and each of those requires a precise approach.

 

Interested in getting involved or supporting the work of Dr. Pelphrey and the AND Institute? Make a gift today or contact the institute to learn more about opportunities to help.

 

Author: GW Impact

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