Dr. Gwynette: Hello and welcome to the Autism News NetWORK, SPARK edition. We’re very excited to bring you some awesome content today about the SPARK study. We’re going to get into that much more. We are joined by some special guests today. They are from the SPARK team at MUSC. I wanted to give you some social media handles about South Carolina Autism Research, that’s @SCAutismResearch on Instagram and Facebook, and you can go to SPARKforAutism.org/MUSC. So without further ado, I wanted to welcome our guests, Dr. Laura Carpenter. Hello, Dr. Carpenter.

Dr. Carpenter: Hi, good morning.

Dr. Gwynette: Good morning. Dr. Catherine Bradley.

Dr. Bradley: Hey, good morning.

Dr. Gwynette: Good morning. We have Sarah Conyers.

Sarah Conyers: Hi, good morning.

Dr. Gwynette: And Jessie Montezuma.

Jessie Montezuma: Hi, good morning.

Dr. Gwynette: Thank you all so much for being here. And this is really a [inaudible 00:00:50] because we all of course work together on the SPARK study, but now we’re doing a podcast which is an extension of our work and hope to bring our audience some great information. So, first of all, just to start off, I wanted to ask each of you, if you could just tell us briefly where you’re from originally and what’s your training and career background? And we can start with Dr. Carpenter.

Dr. Carpenter: So I’m a long way from home. I’m originally from California and I went to UC San Diego for my undergraduate work. But South Carolina is really home for me. I’ve been here since 2002 when I trained as an intern here at the Medical University of South Carolina. My background is as a clinical psychologist, and I have actually been specializing in autism since I was an undergraduate. It’s pretty much the majority of what I’ve done for my career.

Dr. Gwynette: Wow. That’s awesome. So it’s really been a lifelong pursuit for you.

Dr. Carpenter: That’s right.

Dr. Gwynette: That’s great. And Dr. Bradley, how about you?

Dr. Bradley: So I’m also a long ways from home, although I’ve been in South Carolina about as long as Dr. Carpenter. I’m originally from Pittsburgh. I did my undergraduate degree at Vanderbilt and then I actually got my PhD at the University of South Carolina up in Columbia. I started working with autism when I came to MUSC to work with Dr. Carpenter when I was an intern and then stayed for postdoc and have not left since.

Dr. Gwynette: Awesome. And so Pittsburgh, so do I even need to ask who your football team is?

Dr. Bradley: You do not need to ask. It’s very obvious.

Dr. Gwynette: She follows the Steelers, so of course. And, Sarah, how about you?

Sarah Conyers: Yeah, so I am from a small town in the Shenandoah Valley called Fishersville, Virginia. And so I did go to James Madison University. Go, Dukes. And so my background is more in public health education and community outreach. I’ve been in Charleston for two years and I’ve been with MUSC for about a year and a half now.

Dr. Gwynette: Okay, great. And, Jessie.

Jessie Montezuma: I’m originally from Southern California. I got my bachelor’s in psychology and I minored in school psychology and education at the University of California, Santa Barbara. After graduating, I worked as a preschool teacher in a full inclusion classroom, and that’s where my interest in autism really started. And then I worked as an autism line therapist and now I’m a research coordinator in developmental pediatrics at MUSC, and I’m currently pursuing my master’s in education.

Dr. Gwynette: Oh, that’s wonderful. So you’re going to stay with teaching?

Dr. Bradley: I’m really thinking I’m interested more in working in educational policy. So my concentration is regarding diverse learners and I have a big focus on advocacy in my program.

Dr. Gwynette: Okay, great. And you’re really in the perfect role with SPARK. Of course we’re advocating for our patients each and every day. Well, great. So now that we have gotten to know each of you a little bit, I wanted to start with Dr. Carpenter and just ask, going back to the beginning, how did you first get interested in autism?

Dr. Carpenter: So I think I knew I wanted to work with kids with special needs in some capacity from the time I was probably eight years old, and I was lucky enough to get a position working in an autism research lab back in 1995. And this was right before the explosion and autism awareness took place, so I was really just so fortunate to be in the right place at the right time and fall into this incredibly interesting career at this incredibly interesting time in history for autism.

Dr. Gwynette: Yeah, it really is. It’s been a period of unprecedented growth in awareness, but also in the prevalence of autism. And we get asked this question a lot, I think first of all, it’s like, is autism truly more common or are we just recognizing it more? And then if it is more common, why are we seeing it more? What’s your response to that?

Dr. Carpenter: So I think the truth is there’s probably multiple pathways to autism and most experts think that autism is really an umbrella term for lots of different disorders. So at this point, our science might not be advanced enough to identify all the subtypes of autism, but it’s likely that there are many subtypes and many causes. And I think that’s a big part of the reason that autism is becoming so much more common. So we’ve got this growing awareness that autism can present in many diverse ways. 25 years ago, we thought autism was this very narrowly defined disorder, but now we know that the symptoms can present in so many different and diverse ways. And so in fact, one interesting thing is that one of the fastest growing groups of people with autism are those with average intelligence or even above average intelligence and there’s this growing recognition that these folks can also have autism.

Dr. Gwynette: Yeah, that’s a big one, isn’t it? Because people feel like… I think back in the old days, people would assume when you hear autism, they would assume that person has intellectual disabilities, and that’s really not the case.

Dr. Carpenter: That’s right.

Dr. Gwynette: Now, genetics has been an area of intense research in medicine in general and it’s been a long time coming because for decades, we’ve really been focusing on genetics. And genetics seem to play a prominent role in the field of autism. What have we learned thus far about genetics and autism?

Dr. Carpenter: So it’s really complicated. We know that there’s not just one genetic cause for autism the way there might be in other disorders. So with Down syndrome, there is a very specified clear genetic cause. Whereas in autism, we think that there’s as many as 300 genes involved, and we’ve only identified a small fraction of those genetic causes. So our study that we’re talking about today called SPARK, one of the main goals is to try to figure out if we can determine all of these genetic causes for autism. And I think in the long run, if we can understand all these pathways to autism, it’ll help us better match treatment to folks’ genetics.

Dr. Gwynette: Absolutely. And that’s really what it’s all about, right? Is trying to find new treatments. One thing that we all have in common is the SPARK study, as we mentioned off the top. Dr. Bradley, I want to turn it over to you. What is SPARK?

Dr. Bradley: So SPARK is really the largest genetic study of autism ever. And so one of the goals of SPARK is to speed up autism research, advance our understanding of autism, really with the goal of helping to improve lives. And so previous autism research over the years has often really focused on a small group of individuals and families, and SPARK’s goal is really to invite the entire autism community to participate in research. We really want to get both children and adults from all across the spectrum, really with the goal of making sure that our research findings are applicable and helpful to all individuals with autism. And like Dr. Carpenter said, we’ve learned that the answers about autism aren’t easy, and having these really large samples is really essential in order to be able to provide meaningful information and resources to people with autism.

Dr. Gwynette: Yeah, that sounds great. And when we say big study, I think like, “Oh, a thousand people’s a lot.” But how big is SPARK aiming to be?

Dr. Bradley: The initial goal I think was to get 50,000 people with autism and their families. And I think at this point now there’re over 90,000 people with autism have participated in SPARK so far and it’s still going. So I think the goal is really just to get as many people as possible in order to be able to answer these really complex questions and just understand autism better.

Dr. Gwynette: I guess it’s obvious then that SPARK has had an amazing ability to generate excitement about involvement in research. Are you seeing that on the ground in South Carolina too?

Dr. Bradley: We are. One of the great and neat things about SPARK is SPARK really includes more than 30 of the nation’s leading medical schools and autism research centers, and we’re just so excited to be a part of this group. We’re that this is really just the beginning of bringing these strong research opportunities to individuals in South Carolina.

Dr. Gwynette: Yeah, it is really exciting and it’s unprecedented in its size, and for our audience really, we talk about power, like a study is well powered. And that just means it has a lot of participants in the study because we can learn exponentially more from huge groups of people than we can from just a few dozen people, for example. So this has a potential to really pay off. Sarah, I wanted to pivot now and ask you, in terms of the mechanics of this study, I mean, a lot of times people think genetics, “Oh, here comes the blood work.” But is that the case in SPARK?

Sarah Conyers: No. So actually SPARK it’s a saliva sample, so no needles, no blood draw, nothing like that. And so they use saliva because they can use that as a source of DNA to learn more about the genes related to autism. And so they asked for a saliva sample from both biological parents as well as the individual with autism. And so it’s only around a teaspoon amount, so it’s not a lot. It can usually only take around five or 10 minutes to get completed. And so when participants register online, the kits can get shipped directly to their house. And in that kit, we’ll have all of the information on how to complete a sample and how to send it back.
And so there’s two different methods of saliva collection. And so the first one is just going to be spitting directly into the tube, and the second one is just going to be using a swab. So it looks like a Q-tip but it’s a little sponge, and you just put it in your mouth and that’s how you collect it if you can’t spit. And you just [inaudible 00:10:28] it into the tube and then you can send it back that way. So the great thing about doing home visits and community events with us is that we can actually walk you guys through the registration process and help with those saliva collections as well, which is really, really helpful for the participants. So we’re there to assist them in any regard and in that saliva collection process as well.

Dr. Gwynette: Yeah, that sounds wonderful. And another wrinkle to this that I’m not sure we mentioned yet is that there’s certainly a participant that has autism and we want to get as many participants who have been diagnosed with autism as we can. But then this study also involves the mom and dad. Right? So can you explain to people what a trio is?

Sarah Conyers: Yes. So a trio is just the mom, the dad and the individual with autism. Siblings are also invited to participate as well, but that is completely up to them and that is their option.

Dr. Gwynette: Yeah. It’s always funny because when we do the trios being part of these collections, I always laugh because the dads usually have no problems spitting. We get that sample real easily, and sometimes the kids, they do it pretty well, but the moms, that cracks me up because moms don’t spit as much, I guess. But [inaudible 00:11:40] don’t mean it’s a painless process.

Sarah Conyers: Yeah. It can be a game for the kids to see… It’s a race, who can get it done first.

Dr. Gwynette: Yeah. That’s pretty awesome. So is it fair to say the families are fun to work with? And have you had some good experiences in SPARK?

Sarah Conyers: Absolutely. It’s really fun, and there’s so much more than just a saliva collection. So this study really involves so many other aspects rather than just that initial saliva collection and so it really is more than just a one-and-done study. I always say that it’s an autism research community. And so in addition to providing the saliva collection, they also have the ability to read a ton of different articles, they can subscribe to a monthly newsletter updating them on what’s going on in the autism research community, they have webinars. It’s really educational. And so in addition to that educational aspect as well, they also have opportunities to participate in other research studies across the nation that are going on, and they also have that potential to get a genetic result related to the samples that they send in too. So that’s also very unique to the study. And SPARK really encourages families to continue and stay engaged long term and continue to participate in research in the future and not just right now.

Dr. Gwynette: So that’s interesting. So parents can opt in, for instance, if say a treatment comes around five, 10 years down the road, they can opt in and say, “Hey, I want to be contacted if some new treatments develop.”

Sarah Conyers: Exactly, yeah. They can participate in research studies across the nation, not just technically inn Charleston too, which is really, really cool.

Dr. Gwynette: Yeah. And I think it’s really great because I think for typical families working through autism and some of the challenges, it’s like sometimes the helpless feeling like, “What can we do besides advocate for our children?” And this is not only a great way to advocate but also participate in advancing the field one family at a time. So that sounds really exciting. I wanted to switch over now because we are in the world of COVID and certainly the entire planet’s had to adapt to this new normal, and SPARK has made some adaptations. And, Jessie, can you tell us a little bit about how SPARK is adapting to this new world?

Jessie Montezuma: Yeah, of course. So prior to COVID like Sarah had mentioned, we often held events and we would do home visits where families would come in and go on the study, and we would also table at other events in the communities such as the Charleston Walk for Autism in order to just spread the word and get people involved in knowing about the study. But since we are unable to host or participate in this kind of events due to COVID, we have switched gears and we focused more of our efforts on encouraging families to enroll online since the study can be completed entirely from home. We always say you can watch Netflix and participate in research at the same time. What’s better than that?

Dr. Gwynette: Yeah, that’s awesome.

Jessie Montezuma: But some families do prefer to have more hands-on help because the saliva collection for some people can be a little tricky and so we are still offering home visits but we have added an additional safety and sanitation protocols in order to ensure we’re keeping our participants and our staff safe.

Dr. Gwynette: That’s great. So you can come in with the masks and with gloves and make sure that this is done in a safe way if the parents or families choose to participate with that hands-on assistance.

Jessie Montezuma: Yeah. We’re also talking about hosting an outdoor enrollment day where families could reserve a time to attend. So that way only one family at a time is present and we can maximize social distancing efforts.

Dr. Gwynette: Yeah, absolutely. That’s great. So we’re not allowing COVID to grind autism research [inaudible 00:15:18] we’re adapting and overcoming and keeping things going forward.

Jessie Montezuma: Exactly.

Dr. Gwynette: That’s awesome. Now, Jessie, you’ve recently started, with Dr. Carpenter and Dr. Bradley and Sarah, a new venture as a resource over social media for families. Can you tell us about that?

Jessie Montezuma: Yeah. So SCAutismResearch Opportunities is a social media page we’ve created in order to connect individuals and families with local research opportunities. So we also share autism resources, news and research publications. Now, we have understood that research can feel pretty intimidating to some people, and so the goal of the page is to help bridge that gap between researchers and our community.

Dr. Gwynette: And it’s a great follow. Again, it’s @SCAutismResearch on Instagram and Facebook. To be honest, that there’s a lot of not so great information out there on social media and SCAutismResearch is a good follow because they provide evidence-based information, little tips, little factoids, and ways to get involved that you can count on, because that’s a real big need out there, some accurate evidence-based information. So give them a follow.
Okay, so we are just wrapping up here in a moment, but I wanted to talk about, I think a newsmaking or a very newsworthy topic that came out earlier this week and wanted to see what you guys think about this article. It was out of Ontario, Canada, and it involves over 600,000 expecting mothers. And they found a significantly higher rate of autism in moms who had smoked cannabis during pregnancy. So obviously that’s creating quite a stir. Dr. Bradley and Dr. Carpenter, do either you guys want to comment on that study and its implications?

Dr. Carpenter: Right. So this study found that women who used cannabis during a pregnancy were one and a half times more likely to have a child with autism, which is really dramatic. I think one thing to keep in mind is that the study design can’t tell us whether cannabis use during pregnancy causes autism or whether perhaps there are other factors that might increase the risk for both cannabis use and having a child with autism. But I think even putting all of that aside, I think the take-home message here is that women need to avoid using substances during pregnancy that haven’t undergone rigorous evaluation. And so when your doctor prescribes you a medication during pregnancy, it’s one that has been shown to be safe for pregnant women. And I think sometimes people are under the assumption that a substance that’s natural is safe, and that’s just not true. And I think this is giving us a little bit of a glimmer of insight into the fact that natural doesn’t always mean safe.

Dr. Gwynette: Absolutely. That is so well said and just very helpful. Dr. Bradley, I know you had seen that online. And what do you think about the… Are you seeing a pattern out there of how the community is reacting so far?

Dr. Bradley: I haven’t really seen a lot of it. I think people are focusing largely on this study. And there have been a lot of studies that have shown that substance use of a number of different kinds during pregnancy can lead to increases in neurodevelopmental disorders, ADHD and things like that, and so just reiterating what Dr. Carpenter said of this idea of avoiding substance use during pregnancy, especially, I think this idea of natural substances as well. And one thing I often think about is that if we think that something can have a positive impact, even if it’s natural, it can also have a negative impact.
And I think people don’t often think of that side of the coin and think about, even if it’s natural, if you believe that it can do positive things, then it can also have some negative side effects. And I think that’s why it’s just important for people to follow along with their doctor’s advice and make sure that any kind of substances or medications that they’re using have been approved for use during pregnancy.

Dr. Gwynette: Yeah, absolutely. What a unique opportunity we’ve had today to hear from experts in the field of autism about current topics and current studies, and that’s what we do here at the Autism News NetWORK. So I wanted to thank all of you for being here today. Again, we have been joined by the MUSC SPARK team here on the Autism News NetWORK. And I want you to check out SPARK at SPARKforAutism.org/MUSC. And you can also, again, follow SC Autism Research. That’s @SCAutismResearch on Instagram and Facebook. You can follow us on TheAutismNewsNetwork.com. We’re on Instagram, Facebook, and Twitter. And you can follow me @DrGwynette on Instagram and Twitter. We thank you guys so much for joining us today. Thanks guys.

Dr. Carpenter: Thank you.

Dr. Gwynette: Yeah. And for our audience, we hope to see you next time. Thanks for joining us.