Discover the groundbreaking strides being made in research on the WDR26 mutation as I talk to Dr. Thomas Frazier and his Research Coordinator, Katie Huba. This episode takes us through a new path towards understanding and improving the lives of those affected by rare genetic conditions. Dr. Frazier talks to us about his new study that leverages parent-reported questionnaires and innovative webcam assessments to unravel the cognitive and behavioral patterns in individuals with Skraban-Deardorff Syndrome.
Research into rare diseases often brings a mix of apprehension and optimism. Here, we tackle the details of study participation, addressing the eligibility concerns of parents while highlighting the transformative benefits for their children. This conversation is an invitation to view research not as a daunting task, but as a means to glean a deeper understanding of your child's needs, offering strategic insights for the present and a beacon of hope for future medical advancements.
As we explore the ways in which this study could transform care for those with WDR26 mutations, we invite eligible participants to join this collective effort. Please reach out to Katie Huba to discuss:
khuba@jcu.edu.
You can also find more information at skdeas.org/research.
Please visit SKDEAS.org for more information about Skraban-Deardorff and how you can support our superheroes.
Discover the groundbreaking strides being made in research on the WDR26 mutation as I talk to Dr. Thomas Frazier and his Research Coordinator, Katie Huba. This episode takes us through a new path towards understanding and improving the lives of those affected by rare genetic conditions. Dr. Frazier talks to us about his new study that leverages parent-reported questionnaires and innovative webcam assessments to unravel the cognitive and behavioral patterns in individuals with Skraban-Deardorff Syndrome.
Research into rare diseases often brings a mix of apprehension and optimism. Here, we tackle the details of study participation, addressing the eligibility concerns of parents while highlighting the transformative benefits for their children. This conversation is an invitation to view research not as a daunting task, but as a means to glean a deeper understanding of your child's needs, offering strategic insights for the present and a beacon of hope for future medical advancements.
As we explore the ways in which this study could transform care for those with WDR26 mutations, we invite eligible participants to join this collective effort. Please reach out to Katie Huba to discuss:
khuba@jcu.edu.
You can also find more information at skdeas.org/research.
Please visit SKDEAS.org for more information about Skraban-Deardorff and how you can support our superheroes.
This is Emily Beauclair and you're listening to the Smiles Included podcast navigating through life with our Rare Disease superheroes. Hi everybody, I hope you all had a fantastic Rare Disease day back in February. We're now in March 2024. We're coming closer to our Scrabin-Deardorf family conference in Philadelphia in July. If anybody's looking for more information, please visit our skidiusorg website. I know I'm very much looking forward to the conference. I will be attending in person. You can also attend virtually.
Speaker 1:I attended for the first time the conference two years ago and it was just a fantastic way to get all these families together, sharing information, listening to a lot of the research that's going on and what we can do to help our kids. But mostly I love seeing all the kids interact with each other that are impacted by Scrabin-Deardorf, whether they have it themselves or they were a sibling, and it really is a one-of-a-kind experience. And one of our speakers this year is Dr Thomas Frazier, and I'm talking to him today and his research coordinator, katie Huba. They are leading a research study that our Scrabin-Deardorf kids and adults can participate in. That will help us learn a lot more about how their brains function, and I'm really excited about this one. So I'm going to just launch right into the conversation. Thank you for joining the podcast. We're here with Dr Frazier and Katie Huba, who are going to talk to us about an exciting new research study for our community. But first, dr Frazier, I would love if you would just introduce yourself.
Speaker 2:Thank you first of all for having me. I'm a clinical psychologist and I work at John Carroll University. I'm a professor in the psychology department. For longer than I want to admit, I've been doing work on measure development, in particular for autism, intellectual disability and neurodevelopmental genetic syndromes. I have two kids a 20-year-old son who has a WDR-26 mutation, so it's part of the community and I also have a daughter who is neurotypical. And, as you mentioned, my wife is also a behavior analyst and has done work in behavior analysis for people with developmental disability. She sits on the local Cogga County Board of Developmental Disability as well, so we're kind of very, very heavily steeped in the intellectual and developmental disability world.
Speaker 1:The fact that you have a child with WDR26 already tells us why you're so invested in this. Yeah, for sure, and I know you're sitting with Katie. Katie, do you mind introducing yourself as well?
Speaker 3:Yeah, so I'm a BCBA by trade and I came upon the opportunity to work with Dr Frazier in his research lab and I just wanted to expand out more and understand a little bit more about the genetic side of clinical treatments and services. So thankfully, dr Frazier took the chance on hiring me and it's been a really fun, really fast three years that I've learned a lot of information. So yeah, I've been in the field clinically for almost 10 years now and just continue to keep learning in our lab.
Speaker 2:This has been really insightful and it's near and thin and Katie always undersells herself, so she's a fantastic coordinator and also really just spearheads a lot of the data collection that we do with patients and families, and our patients and families absolutely love working with her because it's not just transactional. We really do want this to be a good experience for everybody and we always try to help people to understand why we're doing what we're doing ahead of time, so it's not some random research study that they're participating in, but actually there's a purpose behind it.
Speaker 1:And in full transparency. I am participating in this research study that we were talking about today, and so I did speak with Katie and I can also firsthand. She was so excited about this that she got me excited and very easily convinced me to participate.
Speaker 1:So thank you, Katie, and I hope that part of this and as you're talking to more people, we get a larger portion of our community to participate. So let's jump right in and see what we're talking about actually. So yeah, so I keep calling it the net project. I don't know if that's really what it's called, but if you could just walk us through it.
Speaker 2:So net stands for Neuro Behavioral Evaluation Tool, but really the idea here is that the measures we've created allow us to capture a bunch of different cognitive and behavioral processes in individuals that we're interested in, including things like anxiety, sleep, mood, daily living skills, quality of life. And also we capture these predominantly through the parents. So we have questionnaires that are very traditional the parent fills them out. I'm sure everybody that's listening to this has filled out these kinds of surveys before. But we also have a separate set of net tools where we use the webcam to collect data directly from the patient. Now, right now, that part of our project is on hold because we're really doing a lot of development. We're trying to make those tools better. So for right now we're really focusing on the questionnaires. But ultimately, I should just say, for the purposes of the audience, we want to have sort of combined sets of tools that use questionnaire data and webcam data to really understand more fully what's happening with individuals. And on the webcam side, what we do is we first train the parent or the caregiver on how to administer the tool and then we have the individual sit in front of a laptop or a computer or a tablet and then they actually watch videos that are fairly engaging, and while they're watching the video we record their facial expressions and we also look at where they're looking on the screen. So we use some artificial intelligence algorithms to see where they're gazing at on the screen and that gives us data about different cognitive processes, like, for example, their attention to the screen, their ability to pick out the socially relevant information on the screen. We also can measure things like their receptive vocabulary, their working memory, how much they can read. So we were able to look at a whole bunch of different kinds of aspects of their cognition. And we do it pretty briefly, so each video is only about a minute long, and we try to make it simpler so that if things start to get harder then people can skip out of them and things like that, but just to give people a flavor that.
Speaker 2:We really want to develop this sort of comprehensive toolset that allows us to capture a lot of cognitive and behavioral information. And then the question, of course, is why do you do that? And the big reason is what we want to understand Sreben-Dierdorf syndrome and all the other neurogenetic syndromes that we study. We want to understand them at the deepest level possible. We also want to track that progress over time, and that's why we keep our measures brief and we make them online, because we know that patients can't always go to clinics or specialty care centers to get this kind of information collected. And then, lastly, really one of the major aims of all of these foundations is to develop clinical trials around potential therapeutics. We want to make everybody's life better in whatever way we can and improve quality life. So if we have measures of these different processes, we can put them into clinical trials, and those clinical trials will be more effective. They'll be more sensitive to change and then hopefully we can identify the interventions that matter for patients.
Speaker 1:And one thing I'll say is this computer aspect is probably what sold me the most on this research, because I feel like our kids spectacularly fail all of these cognitive tests that happen in school, whether they're being compared against a typical age group in order to get assessed and whether or not they should be getting special education, even some of the autism testing. It's all relying on what I say. I have almost six-year-olds and part of the testing is put the red with the red, the blue with the blue. I don't know if he can't do that. He doesn't want to do that. Even just going to wash his hands half the time. I'm like I know he can, but he doesn't want to as part of this testing, because there's no reason to go wash his hands in the middle of a random like conversation with a human. So that's why I'm so excited about having him sit for these video sessions and seeing, like if you can tell what's really going on in his head.
Speaker 2:Yeah, yeah, right, and we already have good enough data to say that sometimes people do underperform an in-person cognitive testing, particularly people with neurogenetic syndromes, people with autism or other neurodevelopmental conditions, and so of course, it makes sense to try to alleviate that part of the testing, right? So you know, working with a tablet or a computer is going to allow these individuals to not have some of the artificial social demands placed upon them and hopefully we can get better performances. And the other thing that you brought up that I really want to emphasize to people listening is that it's really important when your child like my son you know he's 20 now, but he's he's had cognitive testing throughout the years multiple times, multiple different clinicians, multiple centers and settings, and what I always tell people is it's hard, especially when your child is younger. But you really have to get out of the normative mindset like comparing your child to other children, their age or their sex, because it's just not helpful. What really matters for us as parents is is our child making progress. That's the thing that we should care about. And because progress is uneven for our kids, it doesn't mean that we should then compare them to neurotypical children. It means that we should care about is how do we accelerate and maximize their development. And so I always tell people let's focus on their obstative development, like their individual development right, and not worry so much about the normative side of things.
Speaker 2:And you know, I think one of the nice things about our questionnaires and our tools is that we developed them explicitly for a developmental population and so their intentionally we try to limit questions that might be a little bit more frustrating for some parents.
Speaker 2:We try to keep them to a minimum. You know, even on the day living skills side we allow for skip out, so people don't have to answer questions that are clearly inappropriate for their child's developmental level, and we just try to minimize that burden overall. Like I know, for example, I've filled out questionnaires for years for my son and sometimes I'll run into questions that are just totally not relevant to him. Whether you know, he's minimally verbal, minimal speech, and so sometimes there'll be questions about conversation and I'm just like, well, that's not really relevant for him, how do I even respond to that question? So we built our tools more in mind for this particular population of individuals, and part of it is to decrease the frustration and burden on the person filling them out the parent or the caregiver. But also part of it is we think we're going to get more accurate data. You know and I can't tell you when I get frustrated, I know I'm not necessarily responding appropriately to these kinds of things so we want to get the best data, the highest quality data possible.
Speaker 1:Yeah, and throw this one over to Katie. Can you walk us through what the requirements are to participate in?
Speaker 3:this.
Speaker 3:Yeah, I mean, I think, simply put, as long as you have access to the internet and a compatible device, which would be a tablet with a screen of 10 inches or bigger, a laptop or a desktop with either an internal or an external webcam, we would be able to enroll participants in that, just simply meet those requirements.
Speaker 3:In terms of, I think where parents' most concerns arise in terms of eligibility is whether their child can sit for a duration of time to gather the information, and my suggestion that I always give to families when those questions or nerves arise is that we can get a lot of information in a short period of time. And I think sometimes, when they hear of the questions or the categories that the videos focus on, they feel that we might not be able to get more than 30 seconds, and I always try to encourage families to think of it as but that's 30 seconds of data and so following time points will definitely be able to pick up more information. And then, in terms of the follow-ups, I really think that eligibility was just the internet access and the webcam. Yeah, we want people they're.
Speaker 1:English is English.
Speaker 2:Oh yeah, so English speaking and we also. We need, you know, obviously, if a child's blind, they're not gonna be able to do the webcams. If they have severe auditory processing issues or they're hearing impaired in some way, they may not be able to do the webcams because there is an auditory component to it. It's not an especially challenging auditory component, but there is an auditory component. I would just add to what Katie said. You know, any data for us is good data and it doesn't mean everybody can do every video or every webcam that we have to offer.
Speaker 2:But one of the things we're trying to figure out in this research is how many people with WDR26, scrabin, deer, dwarf can do the project right, and I'll just tell you from our work in P10 and SynGAP that a lot of folks can, even folks that didn't think their child could do it we were able to get data from, and so that's really encouraging. It's nearly 100% of individuals that we get at least some useful information from. So that, I think, is exciting because it means that our measures that we're creating here are gonna have at least some utility and some value to this population, the vast, vast majority of individuals. So I would say for everyone who's interested. You know, if you do wanna talk to Katie about and consent to participate, you know, give it a try, because when our webcam stuff is ready to deploy we want as many people to try it as possible and we wanna get a flavor for how much of the Scrabin Deer Dwarf population can we get good data on and what kinds of data can we get. So that's really a crucial part of our study right now.
Speaker 1:And I would. I and again mentioning that I'm a little bit biased and as soon as I knew there was a study that was gonna help my child, I jumped right in. Are there any negatives to participating in this?
Speaker 2:Yeah, I mean, listen, we wouldn't be honest with people if we just said, oh, everything's roses here. I mean, like I think you're you know, along the way, especially with the webcam piece, you're gonna learn a little bit about what your child can and can't do, like. I'll give you an example. My son cannot really sit for the webcams. He's very hyper and he's a very active boy. Even at 20 now he still does about 10 miles a day walking wise. So getting him to sit down and watch videos is not easy to do. So you know, what we learned from that is that it's very hard for him to sit for longer than you know, say 20 or 30 seconds. And we do get some data, but not a ton of data from him.
Speaker 2:So you learn some things about your child. They're not always the best or the most exciting things that you learn when you fill out the questionnaires. You may, you know, look at things and go. You know I wish that my child could do these particular things, but right now I have to prompt them a lot to do it. Or, you know, they may require some reminders to complete some of these things.
Speaker 2:So there's always a little bit there of there's a tension anytime you collect data about your child, that you're gonna learn more about them, and some of the stuff you learn isn't always the most exciting stuff. But I will tell you that we universally get pretty positive feedback on things. So, for example, we've had people come back to us and say you know, I've been filling out questionnaires for years for my child and these were so much easier to fill out and I felt like a lot more of the questions were applicable to my child than some of the other things I've filled out. So I don't want to give a universally rosy picture, but I also think that we're on the right track in terms of lower burden, more applicable to these people and getting better data from them.
Speaker 1:I love that and like one thing that you're saying because I did have a question about is this realistically going to help our children or the next generation? Because I feel like a lot of the times we're contributing to research, that I would love it if it meant like an immediate breakthrough, but I know it's very, very long term and my son is probably going to be too old to be helped by whatever they discover. But in this one it does sound like there's. You will learn some immediate things about your child and then hopefully I don't know in the long term this research might come to fruition to help our child now, versus 10 years in the future.
Speaker 2:Yeah, there's a couple. That's a great question. It's a very common one and, given that I've been doing this for like 18 years now, I've had evolutions in my own thinking on this myself, with my son. But here's what I'll say From the assessment perspective if we develop better measures, we can at least help you to understand your child better. That might mean that you can better understand how to accommodate certain things that are going to be a long term challenge for them. It could mean that you learn more about what are the skills we have to try to remediate and improve here. So there's some more. There is some short term benefit to developing better measures, because ultimately, we can improve quality of life and patients and families if our measures actually help us to understand these individuals at a deeper level. So there is some short term benefit that I want to emphasize.
Speaker 2:Now I will say a lot of us in this world are very focused on long term therapeutics, especially biologic therapeutics, and we want a medicine or a gene therapy or something that's going to make a big difference. Right, and here's what I'll say about that. As we get older, our brains do become less plastic. You know. They don't change quite as much as when that kids are younger and there are critical periods for certain skills. So I can't say that, if your child's 20, like my son, that a new gene therapy or a new therapeutic is going to have the same benefit that it would for a two year old child. That wouldn't be an honest appraisal of the situation.
Speaker 2:But what I can say is our brains are still quite plastic, even into old age. We still learn new things, we still acquire new memories, we still gain new skills. Our procedural learning system, you know, procedural learning is learning to do things rather than learning dates or ideas or even making you know memories about what happened yesterday or what I ate for dinner last night. So procedural learning is like riding a bike right, and our procedural learning system is unbelievably plastic throughout our lifespan.
Speaker 2:And so these biologics as they come down the pike, gene therapies, whatever are likely to help all of our population. They won't help them to the same degree, but they're still going to likely provide some help. And so I think that's why it's incumbent upon all of us to participate in research, because you know my son's 20 and he's not going to get the same benefit of a two year old, but if I participate now, he will likely get some benefit and I can make sure that the younger kids get the maximum benefit by participating in the trials and making sure we learn the maximum amount. You can't learn anything from these studies if you don't have enough participants and people involved to be able to figure out what's going on.
Speaker 1:I very much agree and I love that answer because I do get worried that we're participating, all this stuff and the you know whether or not my son is going to benefit and you're right, but their brain is plastic for their whole life. It's just what they. Being able to help them younger. We should not. We should not ever give up on these kids, especially our WDR26 audience that we find has such like huge improvements later on in life and they're always.
Speaker 1:They're always a little bit delayed, they're a little bit on their own time. So I think that that's, that's great and another reason to participate.
Speaker 2:I'll give you an example of something that came up recently that I thought was very cool.
Speaker 2:Is we discovered in a different genetic syndrome?
Speaker 2:We discovered that processing speed was a real problem for a lot of the kids, and immediately then we could put the word out to everyone you know, in an academic context, for example, or in a therapeutic context slower, more, even directives. Making sure you're giving people time to respond, making sure that you're using attention, questions, right there are practical things that you can add into this person's life to make them more successful and to help them to have a better quality of life and better participation. So that kind of stuff is exciting to me because even if your child's 40, let's say, there's things you can learn there that can make a difference. And we had patient, we had families come back to us after that and say, yeah, we told the school about this, we told their therapist about it, and they were like, hey, you know, that's good that you're saying that, because I'm starting to notice that too and I started to slow down my language and it's like, okay, now we're learning things that can actually make a difference in the real world.
Speaker 1:Yeah, I love that, and so one thing we haven't really touched on is the time commitment to participate. What does that look like?
Speaker 2:Yeah, so it generally takes about roughly a half an hour. I always say 30 to 45 minutes. We give a range just because everybody's different in terms of filling out the parent or questionnaires. They are online. They're a little bit faster because they're online, but but I do, they do take time right to fill out.
Speaker 2:So I just want people to be aware of we're used to that, yeah, you're all used to it. And also you can take breaks, right, so you don't have to do everything at once. Just make sure you click next and save. But, but we can take breaks and take your time so that that each time we do it at baseline and then our study has three months, six months, nine months and 12 month follow up, right. So we're trying to learn longitudinally about what's happening here.
Speaker 2:But at each time point it's about 30 to 45 minutes for the questionnaires. When we add in the webcams, that can take another 30 minutes total time. Now, remember, some of that is training the parents to understand the system and some of it is for kids who maybe have a little bit more skills or they're a little bit older. They might be able to do a few more videos. So it's variable, right, for some individuals it might be faster. For some individuals it might take the full half hour, but I generally say like 20, 25, 30 minutes to do all of the webcams stuff too.
Speaker 1:Yeah, I'm very curious to see how my son sits for these videos, because he's used to watching an iPad watch TV.
Speaker 2:I should mention that you know, we generally look at screens, at things that are extremely interesting to us. We try to make the videos interesting, but we don't make them super interesting, and there's two reasons for that. One is we do want to measure their ability to sustain their attention, and so that's part of the actual process, right? And two is we have to try to get at certain cognitive skills, and in order to do that, we can't always make the videos super exciting and interesting, right? So if you're asking somebody to look at a particular object because you're measuring their receptive vocabulary, you don't want to have a million things going on in the background, or music or all kinds of stuff going on, because that'll actually impair their ability to demonstrate the skill. So, you know, we try to make them interesting, but I have to tell you like they're not all super interesting and, frankly, we do want to understand how much people are able to look at the screen. So that's a part of the process.
Speaker 3:And if I can, jump in.
Speaker 3:Emily for just a second. I just wanted to let you know like, over the past couple of years, we have found tricks that we what my role in this all is to help the parents through that part. So we found, you know, different environmental tricks or different kind of handy instructions that might help families. When implementing these types of things, like being nervous about the child sitting there for a certain amount of time I often make the suggestion to have the parents watch the introduction videos first and then allow the system to pause, then bring the child over, so that way, during that you know, one minute to two minutes, we're not having them experience this very uninteresting instructional video that's really meant for the parents to do that. So my support to the parents throughout the process will often also include those little kind of nuances that we found have worked over the past few years of running similar projects to this one.
Speaker 1:And that, I'm sure, makes the parents a lot more comfortable. So thank you, because we get stressed a lot also during these. So the fact that you're experienced with that and have some tips makes us feel better.
Speaker 3:Yeah, and I often make, probably a comment that we're essentially asking families to be the clinicians at home and that raises a little bit of anxiety sometimes because we want naturally, as parents, for our children to perform or to respond in the ways that we know. To highlight what you said earlier Just in-person assessments, knowing your child can wash your hands, but when asked to do it in an environment or for reasons that are unknown, that can sometimes really affect responding. So, being aware of all of those, you know, additional variables in play, you know we have been helping parents through those and that's kind of what my role is and that's why I really try to highlight during calls with parents to save my cell phone number, call me and if you have concerns during those times that you're doing those things, that I am available as a resource to help you guys through those moments.
Speaker 1:Great, Thank you. And you've mentioned just improving overall quality of life and clinical trials. Just to sum it up, you know how do you, how are you defining success with this testing?
Speaker 2:Yeah, our primary aims are to make sure that we understand, you know, who can complete the measures and also what the reliability of the measures looks like. So reliability is a technical property that we're really concerned with. We want to make sure that the measures are precise and that they actually allow us to get a good estimate for each person of their skills and abilities and behaviors. And then we're also comparing the measures to existing measures. You always have to do that because you have to show the world that your measures are roughly comparable to things that have been used in the past. So we do some of that stuff with our measures. But another big aim of this study is we want we're interested in that longitudinal piece. We want to know how, what the trajectory of these Different cognitive and behavioral processes is over the course of a year.
Speaker 2:You know, one of the things we're always concerned about with genetic syndromes like scrape and diridorf is Are you know, is everybody showing an upward trajectory? Is it more of a flatter trajectory? Do we get a lot of different individual differences in the trajectory, right? So we want to try to understand that a little bit as well, and particularly what my predict differences in trajectory. So, in other words, are there some individuals that are showing maybe more positive Trajectories and others and what might predict that for those individuals? Again Just trying, you know, this is the first pass really for us and trying to understand this population, so our aims are not especially ambitious, but but we we do Think that this is gonna be a really useful first pass about understanding all of these different aspects of behavior in this population.
Speaker 1:Well, I love it and I'm excited. So if anybody wants to participate, katie, are you the best person for them to reach out to.
Speaker 3:Yep, yes, and we can definitely. If you can link my email over that I can be able to help families through and schedule individual calls for any questions that they may have and Kind of walk them through, step by step, the process of what to expect along that timeline that dr Frazier presented earlier of Initially three months, six months, nine months and a 12 month time point.
Speaker 1:So great, yeah, so we'll put your email in the podcast notes and people can also reach out to me and we'll send them over. Great, but I appreciate your time today.
Speaker 2:Yeah, thank you so much for doing this and love that you're doing this for the Scraven Deer Dwarf group and, like I said, obviously people can get a hold of Katie, but I also am very, very, very committed to this group of people and I hope to get to know people more over time and and just let them know that you know, ultimately, if we can, if I can contribute by developing better measures, then hopefully those translate into better clinical trials and At the end of the day we all have better interventions for, and Accommodations as well for, the people that we love with WDR 26 mutations. Thanks for listening.
Speaker 1:I hope you found today's discussion helpful in your rare journey, if there are any other topics you want me to discuss, questions you have for some guests, or if you want to be a guest in the show yourself, please reach out to me via the email included in the show description. Please also visit Sqcom or you can find the link in the description below, and if you want to get to know more about the Sqcom, please also visit skdeasorg to learn more about Scrabin Deirdorf and Consider making a donation to help fund research to help our kids Talk soon.