Spark Autism Research with Dr. Pamela Feliciano

Transcript for Podcast Episode: 157
Spark Autism Research with Dr. Pamela Feliciano
Hosted by: Dr. Mary Barbera

Mary: You're listening to the Turn Autism Around podcast, episode number one hundred and fifty-seven today I have a really special guest, Dr. Pamela Feliciano, who is the scientific director of Spark for Autism dot org, and Dr. Feliciano helps lead the effort to build the largest autism research cohort in the United States, which has so far enrolled over sixty thousand individuals with autism. And she also is the mother of a teenage son with autism. It's a great interview. We talk all about her personal journey. We talk about the importance of research and how you can get involved. And I have been involved with Spark for many years since it started in 2016. So I talk about my personal experience participating in the research there as well. So let's get to this really great interview with Dr. Pamela Feliciano.

Welcome to the Turn Autism Around podcast for both parents and professionals in the autism world who want to turn things around, be less stressed, and lead happier lives. And now your host Autism Mom, Behavior Analyst, and bestselling author Dr. Mary Barbera.

Mary: Thank you so much for joining us today, Pamela. I'm excited to learn more about you and the organization you work for.

Dr. Pamela: Thanks. Thanks for having me, Mary.

Mary: Yeah, so I know, like me, you have a personal connection to autism as well as a professional connection. So why don't you tell our listeners and me about your fall into the autism world?

Dr. Pamela Feliciano's Fall into the Autism World

Dr. Pamela: Sure. So my first son, Dylan, he was diagnosed in July of 2007. He was two and a half years old. I had spent maybe six months up until the day he was diagnosed, trying to figure out what was going on. I initially had mentioned some concerns to his pediatrician. Well, actually come to think of it when he was four months old. I told the pediatrician that I thought he didn't have eye contact and she didn't take it too. She wasn't too concerned. She said, You know, as long as he starts looking at you within two or three months, you know that he's fine. Maybe you want to take him to an eye doctor. So all that in mind, you know, I think as a mother, you just have some sense of what's going on. And, you know, even though I wasn't a professional in autism at that time, I didn't know much about child development. I was actually a graduate student at Stanford, and I just finished my Ph.D. in genetics. So anyway, he was diagnosed in July of 2007, and it was it was a lot of effort to get him the 40 hours of Abba that he needed at that time. A lot of meetings with school districts and iPods and special needs lawyers and was about a year and a half before he was placed into a good program. So there was a lot going on at that time and just the focus of early intervention of having therapists in and out of the house for 40 hours a week and dealing with my other son who I had, who wasn't quite a year old at that time. So it was I like to think about that time because I have a lot of nice memories of like really being involved and working with wonderful therapists, but it was very intense. I think so. During the time I was actually postdoctoral fellow, I was doing a training at the Sloan-Kettering Cancer Center in New York City. And so after he was diagnosed, I took a leave of absence and was gone for about a year. And then I came back and I finished and I knew I wanted to stay in science. So I took a job at Nature Publishing Group. I was working for a scientific journal called Nature Genetics. It was a really high profile scientific journal, publishing the latest in all areas of genomics. So it was a really good experience for me to really expand my horizons outside of just the lab and the experiments I was used to doing. Into all areas of human genetics and animal and evolutionary genetics. But I knew eventually that I would love if I had a chance to focus on autism. And there is this organization in New York City called the Simons Foundation, which whose mission is to improve our understanding of math and and basic science. But they do have also an autism initiative. So there's an organization called Safaree Simons Foundation Autism Research Initiative. It's the largest private funder of autism research in the United States. Its annual budget is $90 million. The bulk of that money gets distributed to researchers to apply for funding. So there's a big team of about 10 scientists like myself who manage that whole grant fund making process, so we solicit applications and in all areas of autism research and neuroscience.

Mary: Let me ask you, the Simons Foundation that really came on the scene at what year about?

Dr. Pamela: You know, it's been growing in the past five years. It's really grown. So in addition to the grant making initiatives, there's also an internal like an intramural research computational research institute called the Flat Iron Institute. So there are about three hundred computational scientists working on various problems and in basic science. So like the Center for Computational Astrophysics, Computational Chemistry, Computational Neuroscience. So there is a big effort of towards computational research, and Sfari is a grant making externally facing group where...

Mary: The Simons family, do they have a child with autism or how did they get into this?

Dr. Pamela: The foundation is into big problems in science. So there is an autism initiative, there is a neuroscience initiative, there's a global brain initiative, there's aging brain initiative. So autism is definitely a profound challenge for neuroscience, and I think in that spirit, it makes sense for for Sfari to be part of the Mate. One of the major reference.

What is SPARK for Autism?

Mary: OK. So and then the Spark is the organization you work for and that is funded by Simons?.

Dr. Pamela: Yeah. Yeah. So the spark is part of Sfari. OK. So Spark is a it's the biggest research program in autism in the world. We've recruited more than 100000 participants and we've been going for about six years and we have plans to keep going for at least 20 more. So our goal is to create a big research infrastructure required to better understand autism and to make a lot of data and access to participants. We want to be a bridge between researchers and families and create this cohort that researchers can tap into and create a community of research community for families.

Mary: OK, so, so Spark basically was founded in around....

Dr. Pamela: 2016, that's when we started,

Mary: And I remember seeing that right away because I am, you know, I have been part of the online space and actually, I created my first course in 2015. So 2016. I was on Facebook and so I signed up for Spark right away. Yeah. Maybe some listeners would appreciate me telling from my point of view as a SPARK participant. I know at least back in 2016 when I signed up. I mean, one of the the very first thing that I don't know if you have to take part in that or if you skipped that part, can you be in other parts of...

Dr. Pamela: You can, you can. You don't have to participate in the DNA part.

Mary: So the DNA part is the collection of saliva from the the child with autism from and from their biological parents. If they have them and can siblings participate too?

Dr. Pamela: Yes. Yes. One and usually it's just one unaffected sibling if there's only one person in the family with autism. But if there is more than one person in the nuclear family with autism, then all the siblings can join.

Mary: Yeah. And so I didn't know Lucas at the time, ya know this was six years ago, so he was in his late teens and I didn't know if he would be able to, you know? But there were videos and yeah, and he he did it fine and we were able to get the DNA sample and my husband and I did it and there was no blood tests associated with that, just saliva. And so it came in a nice kit. It was, you know, we package up. There was no fee for me to send it back. And then I was telling my husband that I was interviewing you and he's like, I never got any results from SPARK. So, so I just asked you that before we have recorded that, that only if you find a genetic cause or genetic link factor. Yeah, right? What I was like more than you would contact.So you said, do you have 100,000 samples?

Dr. Pamela: Yeah. So we have recruited 100,000 people into Spark. We've collected probably about 40,000 samples from people with autism, plus family members, whoever is available. So I think altogether, we've sequenced 75,000 people to date, but that number is growing every month.

Mary: Yeah, which is excellent. And then I was telling you, Pamela, before we hit record is I've participated in quite a few other researching through spark. And some of them, most of them were just surveys. I think my typical son, Spencer, was involved with a sibling study through SPARK where he was interviewed. And sometimes there's like a gift card for your time or something like that. We've never gone anywhere for SPark. We've just participated. I do remember with COVID as soon as COVID hit, I think it was the initial weeks of the shutdown. Yes, like in probably early April 2020, I got my first fluid survey. Do you know anybody with COVID? Do you know anybody who's died of COVID? Does your child or you have COVID? You know, all that stuff and. And then there were subsequent.

Dr. Pamela: Yes, every few months

Mary: Surveys, every couple of months. And I participated in all of them and.

Dr. Pamela: Thank you.

Mary: So what did you find from the COVID stuff?

Dr. Pamela: Yeah, yeah. So there have been two aspects of the COVID. Well, three, maybe we published a paper on the COVID survey data a couple of months ago showing the impact that it had on family and family services. I think up and a year after the pandemic started, I think that last time point that we looked at for that paper was somewhere sometime in the spring of 2020, one year after people were still maybe even up to half of people were still not receiving the service, the same amount of services that they had been prior to COVID. So I think that was clear that COVID had a really profound impact on access to services. I think also in the first few months of the pandemic, we showed that people weren't satisfied with the online services they were receiving. And I think even in a year after the pandemic, most people were not back in person. So I think it was something like 60 percent of people were were hybrid in-person of some kind, and then the rest were still completely remote, which is hard. I think it was really, really difficult for families to get through that.

Mary: Yeah, I know that with many of my online participants and especially for my family, Lucas, at the time that COVID hit was going to a, they call it, pre vocational program, which is what used to be called sheltered workshop. And it was basically a day program where he'd go in and do widget type work. And it was a mile from my house and every day weekday from to three, he went. And that abruptly stopped, you know? And so all of a sudden he was at home. People in the online courses were abruptly. Now the kids were home Zoom classes for kids who are functioning of a toddler age level for language or preschool, or we're not able to do to really do Zoom very well, especially if their parent wasn't sitting right next to that. So I feel like especially the parents just got slammed with additional responsibilities and, you know, our kids. Are a lot of work to just to supervise them all day long, and then with the routines that our kids, Lucas Lucas, actually lost 50 pounds since COVID hit. Oh my goodness. Because all of a sudden he was not eating out at restaurants and I didn't realize. But the day program was feeding him a very large portion of fried chicken tenders and fries. Every day, I knew we got chicken and fries. But then when I was like, How is he losing all this weight? You know, he got a very large helping like bigger than Applebee's portion every day. And so all of a sudden he started eating more healthy and portion control and was not eating at any restaurants because they all closed down. And so over time, over the past year and a half, he's is down 50 pounds, which is kind of nice, you know, he's more active and he never went back to his program. So I know for some kids, but even going back to school, you know, there's a lot of requirements for masks and for this. And I did a podcast interview we can link with Dr. Catherine Lord, who's one of the renowned researchers. Yes. She was talking about the difficulty with diagnosing autism. You're looking for social nuances and you know, the waiting list got nuts like this, many of our members. But I can think of one in particular, Michelle C. from a podcast we can link. She got the diagnosis right before COVID. And then. There was nothing. And she had a little girl who was just to just diagnose, Oh my goodness. February and then she was caught without anything. The good news is she found my online course. She took it. And the little girl went from two words in an hour to 500 words and phrases in 33 days. I mean, it was amazing. So she's going to do this, Facebook, to do this podcast, and she's one of our Facebook advisers and our course, like, she's very motivated the little girl, and that's great learning to do better and better. So I think COVID was definitely hard.

Dr. Pamela: I mean, I was talking earlier about how hard those days were that year after my son was diagnosed, and I can't imagine doing it through the through the pandemic. I mean, it was really hard. Really, really hard.

Mary: Yeah, yeah. OK, so let's talk more about Spark, and we are definitely link how you can get involved with Spark. But you know, there are some people that say we shouldn't be researching genetics, that we're spending too much money on trying to find a gene that autism is a gift. Why are we trying to stamp it out? And like, I don't know how big of... How much you hear that or if that is a big....

Autism and Genetics:

Dr. Pamela: It is it is it's a concern that I think a lot of people have, and first I would just say that we are looking to try to understand autism, the genetics so that we can give scientists a molecular anchor to understand the cellular basis of autism. We don't understand what is different in a person with autism's brain than a person without autism. And if we want to understand that the best way to get into that is to understand the genetic basis for autism. We've known for a long time that autism has a very strong genetic component, so autism is extremely heritable. If you look, there were studies done in the 1970s that showed this, and I think it's clear and they're easy to understand. So if there is a set of identical twins and one of them has autism, the concordance rate for that other person, the other twin to have autism is somewhere between 80 and 90 percent. If you look at fraternal twins, the concordance rate is somewhere about 40 to 50 percent. And then if you look at whole biological siblings, the concordance rate somewhere between 10 and 20 percent. So what that all tells you is that there is a very strong genetic component and there's a very strong environmental component to autism risk. And by, you know, it's actually true that autism is even more genetically more heritable than most other common diseases. So any any other psychiatric diagnosis is not as heritable as autism. Things like diabetes, heart disease, cancer, none of these things is as heritable, and none of the common diseases are as heritable as autism.

Mary: So when you say the concordance rate, so identical twins, if one identical twin has a diagnosis, the other twin has 80 90 percent chance of that also. Right. I did hear, though, and I've written up some of the work of Dr. Ami Klinn podcast, not an interview, but a solo show where I went through the work of his lectures, which are on the great great on the show notes. But he also said, and like, I'm just remembering yes, and it's I don't have this in writing. But he said that yes, the identical twin and the identical twin has a 90 percent chance. But where they fall on this, yes, isn't necessarily the same predicted, right?

Dr. Pamela: Right, right. Absolutely. And that's an environmental component. So there is a strong, I think, what it does. The twin studies tell you is that it's worth studying the genetics because you can understand something about the molecular basis of autism if you do study that, and that's the way that we can get to better treatments, treatments for the core symptoms of autism, which we don't have at all. And I think that many parents, including myself, would love something for our children, for those core symptoms, whether it be the social communication aspect, whether it be the repetitive behaviors or those stereotypic or the rigid behaviors, things that really get in the way of functional life, independent life.

Mary: And also for our grandchildren, for our great nieces and nephews and for our friends. Grandchildren like this isn't just about helping our, of course, you know, in my case, a 25 year old like right? If it is genetically more likely to happen again in our family, then we want to really do our best to treat it early. Catch it early. And that's the other thing that's highlighted in my turn autism around book and in this podcast, where I talk about the work of Ami Klin, is that I stood up one of his lectures and I asked him, I'm like, Do you think autism can be prevented? And he said from all of his studies, he did not think that the genetic part of autism can be prevented. But he was pretty sure based on his other reason to be treated and showed that we could prevent or reverse speech disorders, behavioral disorders and intellectual disability, which my son has intellectual disability. And we can put that in the show notes as well. I did agree on that. But you know, some of the studies show that African-American children have almost twice the burden of intellectual disability, that their autism, which is not a genetic that is that is all detection or treatment. Yes. And I think. And I'm kind of standing up for research as well as I'm saying things because, yes,it's both it's genetics and environment, right? Right. It doesn't matter. We have to get to the kids earlier. We have to empower our parents to detect, like when you went in and fight for months.

Dr. Pamela: And something should have in an ideal world. And I mean, Clinton's ideal world, something would have happened. He could have been screened or he could have been sent me to a different doctor. We could have kept a closer eye on him and the symptoms would not have gone on for a year and a half.

Mary: And then he could have went earlier. And when your son was diagnosed and you waited another year to really get good intenstive ABA and I waited to, but my wait was more of denial than waiting lines.

Dr. Pamela: But it's challenging. It's so challenging those times because the kids are so little and you know, it's such an intense change. You know, you go from just taking your kid to playgroups and mommy and me things and, you know, things like that go to the park. And then all of a sudden it's like, No, you need to be at home and have a therapist in your house for 40 hours a week. It's it's quite a mind shift.

Mary: Yeah. So the Spark Program initiative is also housing all of this kind of DNA.

Dr. Pamela: And so we don't have DNA. So we collect, collected saliva. We extract the DNA and then we sequence it. I mean, we do have the DNA samples still in the freezer. That's true. But, you know, we're not like hoarding it or anything like that. It's just it's just if we find something in the sequence analysis that we think is a primary genetic contributor to that person's autism, we give that result back to participants. To date, we're able to identify a genetic contributor and about 10 percent of kids with autism. We give those results directly back to participants. We've to date, I think we've returned, I don't know, almost a thousand results to families and we're continuing to just keep going. Sometimes we don't identify something. The first year we had like we had a lower identification rate in the beginning of Spark as we've learned more. There are definitely dozens of more genes that we've identified, and we're just working really hard to try to give as many answers to families as possible. And I think by and large is a positive experience. I think even if it's not something that's going to directly change someone's medical treatment today. It's super helpful for the families to know and to understand. And I think for many moms, it's a bit of a relief. I think a lot of autism moms, myself included, have spent a lot of time wondering, you know, why? And was it that Diet Coke that I drank too much of during my pregnancy? Or, you know, who knows what? So I think that for a lot of families, it's this having an answer provides an ability to feel less guilt and not feel as if it was something they did because it wasn't. And it's not for any of us, but it's it's challenging nonetheless.

Mary: Right, right. And it also, like I said, these results really can help the next generation of kids, whether they're on the spectrum or have, you know, maybe though they were susceptible to ADHD or a learning disability or, you know, maybe they're showing speech delays or disorders that aren't going to result in autism? I think the whole, you know, COVID into the mix is really not messing up the genetics, but messing up the environmental, you know, detection and treatment. And there's kids that have spent their whole lives or half of their lives in isolation have never been to a grocery store or daycare or preschool. And now all of a sudden, you know, everybody's got masks on. I mean, you have to think.

Biological Support for Autism Families

Dr Pamela: SPARK is a big effort to try to give kids with autism who needed some support and some biological support. I mean, I don't know if your son has ADHD, but mine does. And it can be pretty severe at times, and the medicine that he takes is very effective. I mean, we know when he is not hasn't taken the medicine and so do his teachers. You know, the teachers will email us if there is Dylan as a day off and he's not quite right and you know, a lot of the times I'm like oh, yeah, I forgot to give him his medicine, but my son does this thing where he likes to throw things out of windows because he thinks it's naughty. And so, you know, I'll be walking down the street and I see like pants on our roof like he does these kind of like, like really nutty, nutty behaviors. And, you know, if he doesn't take the medicine, I'm going to find pants on a roof. And so anyway. I mean, I think the point is there is a there are medicines that help him and without those, you know, he definitely wouldn't be where he is and he needs them to be able to focus at school. And I think of our work at Spark as a just an effort to get a drug for kids with autism to target those those core symptoms. You know what, if there was something that you could take that would just help the social anxiety and his communication skills and couple that with intensive therapy? You know, I think he would be in a better place. And so that's I think is the ultimate goal for for Spark is to be able to identify and help researchers get to that point. And by making all of the data that we've collected available and free to any researcher and access to participants. So you were saying that you've participated in research studies by external researchers. So one big component of the work we do is this program called Research Match, and so we take applications from external researchers who want to contact people within Spark. We have a committee that meets quarterly. We have external scientists and external parents on this committee to judge and vet these research studies. And as long as they get approved, we let participants know and match participants. And through this, we've actually matched more than 30,000 thousand participants to these research studies. And so by participating in Spark, you're not just participating just in Spark, but in these other research studies. If you choose to, you don't have to, and there's no obligation. But we will let you know if you are eligible for one of these studies and you can choose to or not. And by doing that, that's really accelerating research because we're taking the tough work of recruiting participants and making it a lot easier for researchers. So researchers are not spending time recruiting, they're spending time doing research. So what they should be doing. And so hopefully through our platform, we're really able to amplify participants efforts.

How to find out more about SPARK

Mary: Yes. And so every step of the way, it's voluntary. There's no cost. And so if you don't want to do the saliva sample or you don't think your child's going to be able to do it or the child, you try it and it doesn't work, that's fine. You could still send in your saliva. You could skip the saliva part and still enroll in other studies. I think the more answers we have and you were saying, you know, your son has ADHD, is all medications. I think another thing we should link in the show notes as a podcast interview I did with Lucas's psychiatrist and Lucas doesn't have ADHD. He has an autonomic nervous system dysfunction which makes him in the past. He's had problem behaviors related to pain or startle, so he's actually on a cardiac med. Oh wow. That settles his nervous system down, and it's been absolutely life changing so we can link that in the show-notes. But that's something because his psychiatrist, Dr. Murray at Hershey, is a dad to a son with autism. And and so a lot of us Pamela, myself, Dr. Murray, a lot of the people I've had on the podcast so far have been parents who have then gone on to really try to lead the way to help more kids, help our own kids and help them. So I really applaud this, and I think this is probably a good way to wrap it up. And really, how can people even find out more information?

Dr. Pamela: Just go to spark for autism talk. We built the website to be as easy as possible and pain free as possible. You can participate from your couch, we'll mail you a split kit. There are videos online and all you have to do is go to the website. And that's it.

Mary: OK, spark for autism dot org OK? And Spark is s p a r k spark for autism dot org. And before I let you go, Pamela, we always like to end it the same way. Part of my podcast goals are not to just help the kids, but also to enable parents and professionals listening to live happier lives. Be less stressed. So do you have any self-care tips or stress management tools that you use that might help others?

Dr. Pamela: Oh wow, that is a great question. So I do a lot of exercise, a lot of Zoom fitness classes. I also, when Dylan was little, I was I'm pretty crafty. And so when I was little, I would spend. And a lot of time, like making sticker books or matching books like the laminated everything. But now I've turned to sewing, and so that's my self-care.

Mary: Nice. All right, well, thank you so much for your time. I'm excited to get more people excited about participating and spark, and I'm excited to continue to participate with me and my family because I do think that the more information we have, the better we will do and the better the next generation will do to. So thank you so much for your hard work and helping us all.

Dr. Pamela: Thank you.

Mary: If you're a parent or an autism professional and enjoy listening to this podcast, you have to come check out my online course and community where we take all of this material and we apply it. You'll learn life changing strategies to get your child or clients to reach their fullest potential. Join me for a free online workshop at MaryBarbera.com/ workshop, where you can learn how to avoid common mistakes. You can see videos of me working with kids with and without autism. And you can learn more about joining my online course and community at a very special discount. Once again, go to MaryBarbera.com/workshop for all the details. I hope to see you there.