Pooja: Welcome to another episode of let's talk about PTEN. Today we are joined by Dr. Thomas Frazier to discuss some of the near developmental aspects of PTEN. Dr. Frazier is a clinical psychologist with a research focus on early identification of autism. Until recently he was the director of the Cleveland clinic for autism. And an assistant professor at the lerner college of medicine He currently serves as chief science officer at autism speaks And is on the PTEN foundation scientific advisory board Thank you so much for listening in today let's get into it.

Thank you so much for joining us today. Starting off. Can you tell the audience a tiny bit about current, P 10, and your developmental research?

‍Dr. Frazier: Sure. Well, thanks for having me. Um, uh, we've been doing a number of different things on that front. Um, but the primary thing I've been working on for the last three years is we know we need better measures of neurodevelopmental, , challenges and strengths and weaknesses and symptoms.And so we've been working really with the whole group of stakeholders to develop better measures. Um, and, you know, 1 of the questions we get is, well, why do we need better measures?

Well, if you're going to screen for and identify developmental problems, which we know occur within PTEN, um, within individuals with PTEN mutations, then you really do need to have good measures of that to screen for those things and to help those individuals get to the right.Interventions and supports that they need. But the other big reason is as we develop more personalized interventions and supports for people with PTEN, um, then, you know, we really need to have measures that are sensitive to change so that we can see are these interventions working are the supports that we're offering patients, helping them to function better, et cetera.So that's really what we've been focused on is building these measures and making sure that they're right for p10 patients and that they do all the things we need good measures to do.

Pooja: and I know that, like, as part of this work, you've collaborated with the P 10 Foundation. Um, what does that look like so far?

‍Dr. Frazier: Well, I've known Kristen Anthony for years, and Kristen's a wonderful advocate for the P community, and honestly, like, uh, I couldn't be doing any of what I'm doing without my relationship with the P and with Kristen. Um, you know, over the years, one of the big things we did was, as we were doing research, we would try to push it out to the community, what we were finding, the relevance of that for individuals.And Kristen and the foundation was a huge part of pushing out what we were finding to the community.

But it's, it's really reciprocal to though, because Kristen's a great resource for us in the sense that she helped us to recruit patients. She helped makes the community aware of the research that we're doing, and it's value to them.So it's really been a back and forth, very reciprocal relationship and honestly, like, we couldn't do this without her andwithout the opportunity to interact with her a ton as well.

Pooja: Um, another question that I have is what advice do you have for P10 patients or parents of patients diagnosed with developmental delays or autism?

‍Dr. Frazier: Yeah, well, um, I would say that if, if you're a parent, for example, of a younger child with developmental delays or autism, um, one of the most important things to do is to start talking with the clinicians that you're working with about, you know, understanding your child.So diagnoses only give you like that little bit of an initial window into what your child's strengths and equals might be. Right. So even in a person with autism, a young child with autism, we know that they're going to have some social challenges, but you really do need to dive in at that point and really try to understand what are those social challenges, what are any cognitive challenges or behavioral challenges that go along with that, and really try to characterize that.

To me, that's the first step here is if we don't understand the child or the individual, then it's really hard to develop a comprehensive intervention. Once you understand those things, though, then the real key is. Accessing and using every resource available to you to get access to the interventions you want and your.Your child needs or that the individual with mutation needs. So on the behavioral side, for example, a lot of kids really benefit from behavioral intervention strategies, whether they're outside of school or even in school settings, right? So you want to make sure you're advocating for that, making sure that your child is getting evaluated by their school district to get supports within the school district, making sure you're using your insurance.

Hopefully, you have insurance and you're able to use it to get the right behavioral interventions in place. Developing a treatment team that really works together. So, like, I've always talked to Dr saying at the clinic about this. Like. And Kara's is amazing because, like, she just understood it from the beginning when I started working with her in 2008, she was like.We need psychology, we need neuropsychology, we need psychiatry, we need everybody. Like, it takes a village, and so there was never any, like, competition. It was always like, we need to bring to bear everybody that has expertise to people with PTEN. So, um, so really it's about bringing your treatment team together, your intervention team together, and understanding whether it's a medical intervention or a behavioral intervention exactly what's needed.

‍Pooja: Um, and so I'm wondering, what do you kind of envision for the future of the PTEN community?

Dr. Frazier: Well, on the behavioral, like neurobehavioral side, I would say, like what I'm trying to create is an online system that allows PHTS patients, PTEN patients to be evaluated online as well as in person because, you know, there's only so many experts in the world and you might not even live anywhere near that.So, you know, we used to have people fly in from all over the place to go to Cleveland Clinic to see Dr. Ang and, you know, that was great if you can fly in and you can do that. That's fantastic. But what I really love is to be able to supplement that kind of experience where we need those interactions with our clinicians.Thank you. I wanted to supplement that experience with like online assessment because we need to keep screening children for maybe they have attention problems. Maybe they're having some anxiety. Maybe there's some mood challenges or challenging behavior that we have to address. So, like, having a platform online that we can administer to parents, they can give us information back.

We can even gather some information directly from the child that that really provides a much more detailed assessment process. And a much more sensitive process for detecting cognitive and behavioral strengths and weaknesses. So that's my future for the PTEN community is like, let's really maximize the assessment process and make sure that every step of the way you're getting what you need.And we can only do that through online now. I mean, if there is anything good about the pandemic, it was basically that we really need to understand that we have to leverage the online environment to do the best we can for everybody. So that's what I hope happens is that people start using the system, that clinicians can use it to recommend.Particular assessment tools to their patients, and then people can track this data over time to really maximize patient function.I'd love to hear more about the online resources that you're creating. If you have any additional detail and if that's something that will be available for patients soon.

‍Dr. Frazier: Yeah, so our online platform is really just starting to get pushed out. We actually have a version 1 that we're starting to work with clinicians and clinical sites to adopt.I expect for P10 that we'll have the ability to get some adoption later this year. Hopefully we're still collecting a lot of data and so. You know, maybe later this year, early next year is when I expect it to be more useful. Clinically, um, right now, we're still sort of very pushing very hard to get as many patients.To actually do the measures, because we need that data.

The, the actual version 1 is starting to get pushed out, and I would love to talk to any clinicians that want to start using it. Um, we're trying to get as many, um, not only PTEN, but also other neurodevelopmental genetic syndromes to adopt the platform, because we think that this is the sort of the way that the future should work for these populations that are geographically distributed around the world.And so if anybody's interested, please. Contact me, I'm not that hard to find T Frazier at you. Um, you know, you can find me through Kristen, whatever, but I'm more than happy to try to get people on boarded and we try to make it a lower cost alternative. There are ways to get reimbursed for using the measures through CPT codes.On the clinicians regularly built, so we can work through that process, but, like, yeah, we'd love to have people.

Pooja: Yeah, it's really exciting. I think, like you said, like, this population is so distributed, right? Um, and so, like, having these kind of tools where they can get that kind of, like. Excellent care.It's really exciting to see those start to be pushed out. Thank you for your work. I guess another question that I have is like, could you give us a tiny bit of the behind the scenes of maybe how you went across, like developing this tool, like what kind of like patients were involved, et cetera?

Dr. Frazier: Sure.Yeah. So we actually involved, um, a number of different families in this process. We had a total of 13 families that were involved in the process where we were developing the measures because we wanted to have a range of different presentations, you know, so a lot of it was parents with a child, but we also had some adults.With PHTS who may or may not have had any developmental challenges along the way and the whole goal of the tool development was to say, what are the key behavioral and neuropsychological areas that we wanted to measure that matter for pizza? And so we ended up with basically 11 domains of functioning.I'm not going to remember all of my head, but I'll do my best. Anxiety, attention, motor, daily living skills, sleep, child and family quality of life, uh, social communication, interaction, restricted, repetitive behaviors. Um, and, uh,

Pooja: that was a ton that you remembered off the top of your head.

Dr. Frazier: Yeah, so, so anyway, we had, we had a bunch of domains and that was really, we settled on those domains because patients and families wanted those to be measured. They said that those were important to them. So that's our hope is that by going through a really detailed process with patients and families and stakeholders.

‍Pooja: Where do you suggest that patients and families start to learn about clinical trials or other ways to get involved with research in this space?

‍Dr. Frazier: Great question. Um, well, I would say, 1st of all, the P10 Foundation is a fantastic place. You know, make sure you're connected, talking to Kristen. Um, you can also there's a number of centers now that have developed around the country and around the world and focus on P10.So I work, for example, with Dr. Catherine Laughlin in the UK. I work, I've worked for many years with Dr. Ang at the clinic, Boston Children has started seeing P10 patients. UCLA and Stanford have started seeing more P10 patients. So find somebody, a center, hopefully near you, that you can connect with. Um, and then also, you know, connect with the P10 Foundation around clinical trials.I mean, another place I always tell every patient to go to is clinicaltrials. gov. Because that's a natural place where you can find clinical trials, the pizza and research foundation in the UK. It's also a place that maybe not every patient or family is going to connect with, but you can check out their website and just see what they're up to.What's next? Yeah,

‍Pooja: and then I guess another question that I have is. As I've been speaking to a few patients that are affected by PTEN, a lot of them have mentioned that their physician, that was the first time they'd ever seen someone with PTEN, right? Um, and so for any clinicians that are listening, um, what kind of advice or recommendations would you give them when they're seeing a patient with PTEN for the first time, maybe away from, you know, like an actual, center of excellence?Um, and any, are there any resources that they can look at as well?

‍Dr. Frazier: Yeah, this is a great question. So, I mean, obviously the PTEN Foundation puts out, uh, different Resource is itself a resource really to the community. I would say to any position listening, or even a psychologist or anyone listening, I like to help professional 1st step is educate yourself.And there's plenty of literature out there. You can go to PubMed. You can really look at the reviews. Um, on the behavioral side, I published a chapter a few years ago where you can go and you can sort of read what we're thinking about for PTEN patients on the behavioral side.

Um, so education is really important.I think the other thing is consultation. There's a number of experts now in the world and PTEN and you should go seek them out and talk to them. And many of them are very open to this, right? There's. There's experts in Italy now, there's experts in the UK, there's experts in Singapore, like there's literally experts all around the world now.So seek people out and really consult with them and try to get, to pick their brain about what the best next step is. And then the other thing I want to put a plug in for is we're in the process right now of creating a set of evidence based clinical guidelines. That we hope will get pushed out to the physician and allied health community in the future.And many of those guidelines are very specific. They really do truly give guidance to the clinician. So I'm hopeful that that'll be done later this year and we can publish that and then that'll be available as well.

‍Pooja: Yeah, it's really exciting to hear about those kind of like guidelines and standardizations that are coming in play.
Um, I think really like leveling up the quality of care that patients are getting, um, and I guess as we're wrapping up, I'm wondering if you have any final thoughts, um, just to share with the PTEN community.

Dr. Frazier: Yeah, I would just say I love being, uh, you know, a small part of the community. I, I think, you know, one of the beautiful things about the PTEN community is that There's, it's, it's very much like we're all in this together and we just need to figure this out and do the best that we can for one another.And I think I just been super impressed with them. I would make, I would give a pitch though, which is if you want to see advances in the science that can translate into practice. Please participate in our studies.

Please get involved. I know it's a pain. Sometimes I know it as for my own son. I know it's hard to participate in research studies, but I can tell you that there is real value here.And those of us around the research side, like, we're incredibly grateful when you participate, but we also feel the responsibility that we can't just be doing research for research sake. We've got to do research that impact patients and family. And so that's really what we're focused on. Thank you. And just join with us in that and help us to do that, because ultimately, I think the sky's the limit in terms of developing new interventions and supports and treatment guidelines and everything that we need to make lives better.