Latha Soorya, PhD, Assistant Professor Department of Psychiatry at Rush University Medical Center, talks about the largest autism study ever done in the US.
Interview conducted by Ivanhoe Broadcast News in June 2016.
Let’s talk about the Study then.
Latha Soorya Ph.D.: SPARK is the only web based autism registry and it’s the largest of its kind. Seeking to enroll fifty thousand families or individuals with autism over the next three years and the goal of the study really is to provide this community where families and researchers can come together to share information, share data and also have a resource in sense for researchers and families where we’ll have information on the family, information on the family makeup, behavioral data, diagnostic data and of course genetic information. Families will be providing DNA samples in the form of saliva samples that go to a central registry. It’s an opportunity for families to get back information if there are significant findings. Not everybody will but they might get back results on about fifty candidates sort of genes that might be associated with autism or thought to be associated with autism. Hopefully, over the next three to ten years; there is a big vision for the study and it’s a really cool vision that I think lots of people are behind but it is still a vision right. The goal is, if we collect all this information about these families we’ll be able to better understands the individual types of autisms that are present and hopefully the next step from there is deliver treatments.
I was going to say it’s so long overdue.
Latha Soorya Ph.D.: Yes, it is I mean there have been so many advances in the genetics of autism and when I first got in the field I think there were one or two genes that we thought were associated with autism. It depends on who you ask but you know the upper end. We can estimate some people might go and be as bold as saying, about twenty five to thirty percent of what is called autism, can be explained through genetic findings. That’s an important like testament of where we’ve come in the science right but it also shows where we have to go. Not that all cases of autism will be explained through genetics but that there is a highly heritable disorder and there are many exciting things happening in transitional science that we’ll be informed once we get more deep into the heritability and the genetic findings.
Talk about what makes this so important to have that data, the fifty thousand and collecting all of this information. How important is that?
Latha Soorya Ph.D.: It’s critical, there is the types of genetic findings that we see in autism happen in a small number of families and to be able to collect this information across fifty thousand people that might mean that there are now a hundred, two hundred families that are already pulled together in this online community that are available and have said that they have interest in research and might participate in science. To have each other for support systems if needed across the country and I think at every level it provides resources for everyone to be able to move forward the treatment of this condition.
You kind of touched on it a little but just talk about some of the things that can come out of this.
Latha Soorya Ph.D.: There is a benefit to being part of being connected with people doing the science right, so they can have a voice in how the science proceeds in many ways. They can be informed about the findings that might be hard to understand when they come out in the news media. They have a reliable source for that information through the SPARK registry. From a research perspective, again as you said, there’s really nothing like this. It doesn’t exist now and when it does exist it’s hard to know what we can’t do right. For you to come to them and say, I have this opportunity and have a targeted group to send it to. I think that, that going to speed up research in a way that we don’t have the ability to do now. I mean so many autism studies are struggling, whether it’s treatment or other types of studies, or struggling with recruitment in general. I think that it will build the culture I think of participation and it will also provide us as academics, a way to understand what families are thinking about what we’re doing.
It’s almost like that whole you know it takes a village, this is something that we’re going to understand, everyone on every level. Science research support needs to be working together.
Latha Soorya Ph.D.: Yeah, you know I think we’ve missed the target several times in terms of how we’ve been studying autism and treatments and I think this will really help, I mean it’s hard to know because it’s never been done but there’s a lot of hope that this will make some of those bumps a little easier.
Can you talk about maybe even just some of the strives that have been made in the past few years in understanding it?
Latha Soorya Ph.D.: I do think that there has been a lot of exciting things that have happened in autism in the last probably even ten to fifteen years. I am training a behavioral analyst and have a background in behavior therapy. In that particular domain I think we have come to understand the real benefit of behavioral therapy. Of the early behavioral intervention and how they have the power to really change trajectories and move children from being nonverbal to being able to sort of be more and more integrated and need less and less support. Not that we are curing autism but we are giving them a chance to sort of perform at sort of a better rate or higher rate than they would have without the intervention and we are dealing with different issues but we are giving them a shot to sort of be more integrative in to society. That is the behavioral intervention side and I think we are seeing a growth in interventions that help older individuals where there is a huge gap there still, but there is an eye towards building supports for older individuals in the service literature. That’s been really exciting. Another path that I think has really gained some traction in the last few years related to the genetics of autism has been the identification of common pathways that genes coalesse around; that might be implicated in autism and that these pathways are linked back to rare monogenic forms of autism. Single gene disorders that we think are highly correlated with autism and the field has moved towards studying these disorders in very sort of deep typing way. Probably the field is sort of or has come to study these individual genetic conditions that we think are related to autism. These rare genetic disorders like fragile x syndrome, which I think you have heard about, Neman pick which has been in news lately and Phelan McDermid Syndrome. These are examples of rare genetic disorders associated with autism that are being studied exclusively, both in terms of their genetics, their biology, their behavior, their life course and the idea is that we can better understand these well-defined conditions. We will get more of an incite of what is going on with idiopathic autism. Autism that is not defined in any particular way yet.
We were talking about how the prevalence or the estimate keeps going up where now it is one in sixty eight. Can you address why, or what the possible reasons for that?
Latha Soorya Ph.D.: Yeah, I mean it is one of those issues that I do not think we will know fully the answer to, but the prevalence has stayed at one in sixty eight for two years; at least now that prevalence rate really represents the ability of the field in many ways to capture things going on with groups that might have been defined by other disabilities. To put it another way, I think the one in sixty eight that we are looking at now in our prevalence rate, which has remained stable, it represents increases from capturing milder forms of autism that was about a decade ago to capturing the families who might not have been diagnosed because of the services in their area. The increase in 2014 came from helping or for us capturing Latino and African American children in the diagnostic pool better than we did in the prior two years in the prior CDC report.
It is just getting a little more accurate probably, or at least the data is getting a more thorough.
Latha Soorya Ph.D.: Yes, I think we are more comprehensive in the families and the individuals that are representing and who we are capturing as part of the diagnostic profile.
Let’s talk about Ben, how old is he and where is he on the spectrum?
Latha Soorya Ph.D.: Ben is a teenager with autism who has a fair amount of verbal ability and came to our center for an evaluation; I am going to say three or four years ago and has participated in a lot of our programming including social skills groups, therapy and management with some of our physicians. Ben is in a therapeutic program for children with special needs and succeeds when things are fairly structured. He has a great memory, a great sense of humor which I think you’ll see when you meet him, but he also gets stuck pretty easily on things that he likes or that he’s upset by. Those are the types of issues that his mom will probably speak to you about. But I think that when they come to centers like ours that we’re working on quite a bit. For someone like Ben participating in a study like SPARK, this is as much for Ben and his siblings and his family to gather as much information as they can. They’re really resourceful and find things that are you know, that are easily available to families because of how resourceful they are. They think SPARK gives them just another one of those resources to lean on. They’re really interested in research and treatments that can help even move the needle like incrementally for him. They understand that these massive movements are difficult. They’ve lived with you know the challenges of having a child with autism for fifteen years and they see the benefits or not the benefits. They’ll see progress, but they will see setbacks and so I think for them being part of this kind of community and I’m sure Andrea will let you know as well as I will; if not better, but they want to do whatever they can to help families behind them sort of struggle less with the trial and error that they’ve had to go through.
I’m sure that no matter what comes out of the study it’s going to help them on their way. It’s going to help someone.
Latha Soorya Ph.D.: I think that families like Ben’s family have a lot to offer to new families and will also benefit from being part of the community where they might be connected to older individuals. When they’re starting to worry about transition and if he can live independently, how he is going to live a full life. I think those are the types of issues that this kind of online community has a potential to provide for them.
What about Ben and the information that provides researchers for scientists?
Latha Soorya Ph.D.: You know Ben, I think as a family they could provide quite a bit. Ben himself, I think by participating in genetic studies and medication trials and then behavioral intervention studies can give us a good sense of what treatments work for and why. But he’s sort of a preteen with a fair amount of verbal skills but has probably and would not be able to be in a typical academic setting without a fair amount of support. He’s been succeeding in a more therapeutic program. By participating in a research community like this I think they’ll have to do less back and forth with this work, does that work. But then for the research community we get a pretty good picture of a classic, you could use that word, classic child with autism and how our treatments apply. If there is a genetic condition, that might explain why that treatment work or not. From my perspective we do an intervention. When a kid like Ben comes in it does it, seems to work a little bit but not as well as it did for other kids. It gives us something like SPARK gives us, the opportunity to go back to the genetic data and see if that can explain the kids that were responding or not.
What has kind of worked for Ben?
Latha Soorya Ph.D.: Well, again I think that his mom will be better at that, at explaining that. But, he has responded well to social skills interventions and he really enjoys the comradely in being part of the group but it’s not clear that he’s learning the skills, but he also has responded really well to some of our psychopharmacological clinics. They work really well with his family, to be able to figure out at that particular time how to whether it during the school year and if he needs to focus a little more at the end of the day to make it through a group right. Or if he might need help in other ways to manage his behavior, those are things that I think he has done well within our clinic.
Can you explain? You call it autism spectrum disorder; can you explain what that spectrum is?
Latha Soorya Ph.D.: We need four days. I think that there’s this phrase and people have heard this quite a bit but when you’ve met a person with autism you’ve met one person with autism right. And that’s probably a familiar phrase because it’s so true. When we call it the spectrum, we don’t have a good understanding of what the different types of autism are. There are you know four to ten different dimensions that can describe any of us including individuals with autism. They might have more or less impairment, or more or less skills, in terms of their social ability, in terms of their repetitive behaviors, in terms of their language skills and their intellectual ability. When we call it the spectrum, in terms of intellectual abilities, the brightest people I have met in all the work that we do, have been people in autism spectrum. We’ve also worked with kids who have these amazing memories and these are people that are on TV. I also actually work with families and children who faced incredible struggles every day and don’t see the growth that we’d like to see. For a study like this to be able to characterize fifty thousand people on the autism spectrum we will get a much better understanding of what is ASD, what is the autism spectrum; across the ages and across development. Autism changes are not just across an individual but across stages of development. A child that you meet at two is going to be different than the child you meet at six and the adult that we meet at thirty. Something like this gives us the hope to answer that question a little better.
It’s not like you can say this is the spectrum and this is where Ben is.
Latha Soorya Ph.D.: Yes, it’s really difficult because we’re talking about a kid who you know he remembers something. I said two years ago in a group that we did and that probably I misspoke on and he won’t forget it and he’ll let me know that, he won’t forget me. But, then you know there are of course struggles and challenges that his teachers and his parents face that we can’t explain by autism either. I really do think that studies like SPARK where we are acknowledging simply by saying that we need fifty thousand people with autism to be registered. We’re acknowledging that there’s so much more to know and we need all of these people in this massive database that gets at every level of what might be autism is exactly what will help move us forward.
You’re still looking for more people to sign up?
Latha Soorya Ph.D.: We are, the RUSH Spark site, there’s twenty one clinical sites across the country. RUSH is a pretty unique collaboration between several departments. We’re in the Department of Psychiatry, the art center in the Department of Psychiatry, it’s the opposite center here. We have colleagues in pediatrics, pediatric neurology, developmental and behavioral pediatrics and behavioral sciences. We are having families either come in through about five to seven different clinics across the Chicago land area to register on site if they’d like to. Or it’s the web based registry so it’s just as easy to click on our link and register on line. The process takes fifteen to twenty minutes; families can choose to get the saliva kit shipped to them directly from SPARK. They can do it, there are great training videos they can do them from the comfort of their home. Then we’ve had families that do it on line and say, you know what this is a little challenging to get this sample and then they’ll come in. They want to make it as easy as possible. The Simon Autism Foundation has tried to streamline this as much as possible. But you know there are a lot of options and so we’re looking to recruit about twenty five hundred families over three years. The study just started in April 2016, so we’re just at the very beginning of our recruitment. The dream is to register every child with autism in or every/child adult with autism in Illinois at least. We’ll see how successful that goes.
You had touched about how this is not just for Ben and his family because it does when you talk about people with autism but it affects the siblings too and it affects the whole family, can you speak a little bit to that?
Latha Soorya Ph.D.: Sure, you know not from personal experience, but from the families that we work with the stress and burden about the care of a person with autism is something that I think that we’re just beginning to understand. As a culture and as a field trying to build the right supports in to help with the long term care of those families, who have been there for several legislative acts that groups like Autism Speaks has been very involved in and helping secure financial sort of systems. Like similar to a college savings fund there are acts in place to be able to have a saving plans and savings funds that I want to rephrase that. It’s the Autism Able Act but it’s just like a 50, 504 plans that you can get tax reduction for, they have that. We were talking about the families.
How the acts that are available, the resources I guess that are available.
Latha Soorya Ph.D.: What I was trying to say was that I think that as a society we’re just beginning to get a better understanding of what we can start to do to help support families in long term care. Ease the burden as much as we can on siblings and parents. One of the sorts of newer pieces of legislation is the Able Act, which essentially allows families to build a pre tax savings fund for the housing and long term care. I think that’s one of many things but most families with autism or families with an individual with autism are thinking not about you know high school graduation necessarily but what are the ten steps from there and who is going to take care of our son, daughter.
END OF INTERVIEW
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