#55 Stuttering Genes with Dr. Shelly Jo Kraft
“For me as a clinician, as a geneticist, as the mother of children who stutter as someone who is just really in love with the mystery of this disorder as well. I want to understand it. I want to understand it and that’s what we still need. And that’s what I’m hoping these genetic discoveries are going to help unwind. What exactly is going on for these kids? What is regulating this? So, my genetic work really is important because not just for identifying the genes, but so we can understand the mechanisms that are driving stuttering so that we can come up with new therapeutic approaches.”
Listen to this episode on Apple Podcasts, Spotify, Google Podcasts or your favorite podcast platform. You can also watch the interview on YouTube.
BIO:
Dr. Kraft's current research focuses on the biological and behavioral genetics of stuttering, autism, SLI, SSD, and hearing loss. Other research interests include neuro-anatomical and functional features of people who stutter, auditory feedback mechanisms of speech control, autism treatment strategies, new genetic analysis techniques for modeling epigenetic complexity and exploring the relationship between cognition, temperament, and stuttering severity.
Dr. Kraft is the director of the Behavior, Speech & Genetics Lab (Rackham 051), where the majority of her research is conducted. Her latest research showcases novel approaches to the identification of gene-to-gene interaction and regulation as new genetic methodologies offer the promise of identifying etiological bases for many developmental disorders including speech and language disorders.
Dr. Kraft's research team in collaboration with the Univeristy of Texas, Baylor Medical, and Vanderbilt University, was recently awarded a grant from the National Institutes of Health to identify genes for stuttering. She will be collecting saliva samples from people all around the world who stutter. Discoveries will lead to better treatment options, the development of prevention strategies, and give answers to the people affected.
EPISODE HIGHLIGHTS
0:00-5:00 Opening remarks
5:00-14:13 Inspiration to become SLP and scientist in the field, Down Syndrome, Graduate school in London, England
14:13-30:47 Latest stuttering research, especially using genetic material, digital health, and exploring the genetic phenotypes of people who stutter and differences between different people who stutter differently
30:47-32:00 being a mom and an SLP
32:00-40:08 Linking family history, DNA and genetics
40:08-50:44 getting data from health records and 23andMe learning from reported family history of stuttering, mapping the genetic code and looking to see how much more we can discover
50:44- Closing remarks
RESOURCE LIST
MORE QUOTES
“It's never ending mission to educate everyone about stuttering and the nature of stuttering and. Just the genetic aspect, I think is really important.” -Dr. Shelly Jo Kraft
TRANSCRIPTION:
uri: Okay good morning, everybody. What a big treat? I think Shelly, Jo, I think you win the award. I think We probably kicked off this conversation to try to make this happen before COVID no. It was like, I think it was, I think it was after two Y2K. No, it was like a 20 at some point, but but for everyone's benefit, listen, good things come to those who wait.
uri: And those of us that are allies of people who stutter We practice that. And we learned that again and again, and that might be the best thing is giving people the time they need better, things will come when we don't rush or push that. So Shelly Jo said, listen, just give me a few more days. I got some exciting things cooking and I'd really love to share.
uri: So just hang on and having the excitement that I have and the regard that I have for Dr. Shelley Joe Craft, and a little bit of impulsivity. I was a little bit like. Okay, this will be a good exercise to lean into. Good things will come. And I'm so glad I did because I got it.
shelly: Hummock has really taught us all how to be patient and how to adjust our lives accordingly.
uri: There we go. So maybe we can both talk about that. That'd be cool, but I'll just give the boring intro. So my name is Lori Schneider. I'm like the accident accidental podcast are here and it's a treat to have people like Dr. Shelly, Joe Kraft, who also gets the award for the longest bio that anyone has shared with me.
Uri: Awards are good. Listen, Vivian Siskin also said to me how long. Should it be, I said, just send me the bio. And I figured it'd be like, most people's bio it's like a paragraph or two. And then you get like Vivian Siskin and you get you. And it's okay. I think Facebook said that I, I've used too many letters.
uri: Absolutely. So I made sure that Vivian Siskin and you did not appear in the same month cause I would have. I overages. All so the boring bio or the short on the long, which you can see in the description, it'll be up on the podcast notes and in the blog Dr. Craft, like where to even begin her current research.
uri: Focuses on biological and behavioral genetics of stuttering, autism, SLI, SSD, and hearing loss. As speech, language pathologists, we have an alphabet soup of acronyms and things, but we can talk about what all that means, but really it has to do with looking at how things interact with one another and getting a really good, deep understanding.
uri: Cause of better understanding. We can create a better world for people, both people living with these different things, as well as the people that are devoted to helping. So her other research includes the neuro anatomical and functional features of people who stutter auditory feedback mechanisms of speech control, autism treatment strategies, new genetic analysis techniques for modeling.
uri: Epigenetic complexity and exploring the relationship between cognition, temperament and stuttering severity, simple stuff like that. She's the director of behavior, speech and genetics lab. And the majority of her research is conducted over there. And her research really showcases novel approaches to the identification of gene, to gene interaction and regulation as new genetic methodologies offered promise of identifying ideological basis.
uri: For many developmental disorders, including speech and language disorders. And I'm loving, putting a little drama to this because it is. Darn exciting, to be honest, crunching the numbers and looking at the data. That's not what excites me, but when I hear that other people are doing it, I get so excited to learn off of there off of their, data and columns and crunching.
uri: But her research team collaborates, university of Texas, Baylor medical Vanderbilt. I recently awarded a huge grant from the national Institute of health. That's NIH. That's where it's at to identify the genes for stuttering. I'll stop there, but you get the idea we're in the presence of greatness.
uri: And we also have some connections through some global research teams that are working on things across different disciplines. It is a tremendous honor. And I think you can tell how excited I am to have this conversation with you and share it with our friends around you.
shelly: The honors might really, this is
uri: so fun.
uri: Awesome. So let's kick off the fun. Tell us the first thing that I always ask is okay, so there's the bio and you should put a lot in there. What's one thing that you would like people to know about you that is not on the bio that people might not read on the bio about me. Yeah. Like you're a human being, yeah.
shelly: I guess in light of the bio perhaps it's that I really care. I, I care about this work. I love what I do. I feel incredibly honored and privileged to have had all of the opportunities that have paved the way to get to the point where I am now. I think that I get just as geeked in as excited over each and every aspect of my career and my Workday and.
shelly: The teaching or the research or the clinical work that I do as I did 20 years ago when I got started in this field. So I guess maybe that would be something that I would hope people would associate with me is that I actually care a lot. And I'm
uri: invested in this. I think we should add that to like the applications for grad school.
uri: And maybe when you get your CS with Asher and maybe with all the other levels of accreditation and certification, like they should add some credentials after your name
shelly: I got an extra C for care, but
uri: she's got a heart. I think four CS would work well, both for ages.
shelly: I like it we'll submit that.
shelly: Awesome.
uri: So when did your first seed of care get sparked? Like when did you realize this was something you gave a darn about and how did that drive you to do what you do for it's hard to believe. Cause you're only looking, like we're not going to say your age, but you've been here for 20 years.
uri: Holy smokes and me too. I'm with you. So what sparked your fire? Okay. What brought you to this? My
shelly: brother has down syndrome, so I grew up with a sibling who had special needs and communication difficulties and. I think I was expected for a really long time to do something not expected, but I think I expected it of myself to do something where I would be working to help other people.
shelly: Healthcare thought I was going to go to med school, things like that. But when I became a speech pathologist, I was doing my master's degree in London and they had a residential course, which is a summer camp for teenagers who stutter. And, you're waiting as this as a speech pathologist in training for that area, that's really going to light your fire.
shelly: And for me, this residential course, I was so excited every single day to do what we were doing. It was such an incredible opportunity because it was under the direction of Dr. Trudy Stewart. And she was at the university of Leeds, but there were speech pathologists speech therapists in England from all over England that all specialized specifically in stuttering that were the camp counselors at the summer camp.
shelly: So every time I would go to a different activity, I was working with some of England's leading experts in stuttering treatment. And it was amazing. I and stuttering itself is amazing. It's there, it's so mysterious. It's so tricky. It's exciting. It's so profound. It has so many different aspects to it that we still don't understand.
shelly: And. It really it was waking up at seven o'clock in the morning and not being a morning person that made me go, wow. If I can wake up at seven o'clock in the morning every day and be really excited about what I'm going to do, this is that. So that's where it all started.
uri: How appropriate that one of the first people that drop a comment on Facebook live is none other than Trudy Stewart.
uri: And that's what I. Get out. That's what I love about this whole thing is like people come out of the woodwork. It's amazing. So Trudy is right there and I'm smiling my eyes off because there you are. She
shelly: started it. And what an incredible mentor to have at that point, right?
uri: You're just sending you lots of hearts and I'll bless you, Shelly, for remembering that residential and hi from England, she says, And we'll get this in late, let's just honor Trudy with this.
uri: She says, can you point me as a clinician to the best piece of research with implications for clinical practice? And I assume she's referring to, you know what she's referring to. I'm not sure in which regard she meant, but maybe she'll say more, but we'll maybe afterwards you'll send me some links.
uri: We'll see what we cover and maybe you'll send me some really good references. And then if you go to the blog page, now your speech.com/our blog. I'll make sure that we truly would put up a nice article for you. And thankfully Shelly, Joe will be able to provide more than one or two or three for those that have that appetite.
uri: I'll tell you something funny what you said about, if you're not a morning person and you're waking up, then you know, there's something good. So I generally don't talk. I've tried not to start 200 on myself here, but I do want to share, I asked this kid yesterday, it's his like third appointment.
uri: He's 16, 17 years old, really burnt out from previous therapy experiences and not easiest step into those. There's a lot of pressure because you don't want to be another let down in a person's life. You don't want to be another one to open up this sensitive chapter only to disappoint.
uri: Once again and being someone who cares, it's not like we just show up and check in and check out. Like we want to be of help in a service. So I said to the young man, I said, how's it going? And he's waking up also like UN unbelievable hours because it was a little bit tricky to make it happen.
uri: So he checks in and I said how's it going? He's I'm like one to 10. He's Oh 10. Wow. What's the best thing he says. I really like expressing myself. Yes. And his mom is next to him and he had just gone through like sharing his story of growing up with a stutter. He's now 16. I said let's go back and walk through your relationship with your stutter of what you remember.
uri: So what's your earliest memory is at a certain age, I remember such and such, and I'm not going to say too much to give away, but he remembers being a certain age and it was like, it just, wasn't a big deal. And then he remembers a certain age where it was like speech therapy was like the obstacle of the week.
uri: It was like the biggest focus for the whole family. And it wasn't a joyful one. And that's not to blame the therapist or the anybody. It's just the dynamic of like many different interests, all well-meaning, but not yet hooked up. And I turned to mom, I said what do you say? Like, how's this going for you?
uri: And she said, really nice. I said, what's been good for you. She said he doesn't wake up at that hour for anybody. So the fact that you wake him up that hour, I don't know what's going on for sure. Off another call right before our call now. And I'll just share this. This was also great, just as a takeaway take home.
uri: And it's why we do what we do. Two parents super devoted to their, a young kiddo who stuttering. And that's a shout out right there too. Who says kiddo, who introduced kiddo to all of us? Very guitar, according to this kiddo thing, we've got to do something about that. Cause it's a little catchy.
uri: So these parents at the end of the session, I said, how was today? And dad said, that was really helpful. I said, what was most helpful? He says, I realized we don't need to fear the stutter. We need to fear silence.
uri: Absolutely right there. So that's why we share that fire. Yeah, that's great.
uri: That's great. Yeah. Totally Michigan, by the way, is packed and stacked. I only realized that this year, like Michigan has so many of our best and brightest. Yeah.
shelly: I like to think that I started the trend by being the first to come over here and entice Scott and Suwon to come on. And now we have hope that's over at Western Derek.
shelly: Oh you know what? You're right. Derek was actually the first.
uri: There you go. Derek is a trailblazer. Derek is a leader. Yeah. He's the head of the state. He's the head of the state organization. Isn't it? He is president Michigan speech language hearing. Totally. So I would, we talked about so many different topics, but I think truly some people are coming in the hottest.
uri: Let's start with. Genetics. It comes up all the time. And do you want to just lead with what you think are like some of the most misunderstood points about genetics and stuttering and then some of the straight facts that you'd like people to understand and like where things are going with the studies.
shelly: Sure.
uri: So right. I can throw you some softballs whichever way you want to go. So
shelly: you can do all sorts of throwing objects here. Genetics, I think the most important thing is that people do understand that it is genetic in nature. I think that we still are working against a lot of stereotypes and misinformation that really got started in the 1950s about people who stutter and why they started her and that they're nervous or that they were abused or whatever those misconceptions are.
shelly: I think it's huge for people who starter for their parents, for families, for the community, for the broader context at large to understand this is a genetic disorder, highly genetic in nature. If your child stutters or you stutter, there's other family members. Who also stutter in your family and because stuttering is the way that it is.
shelly: Some of them may have stuttered as children for a transient amount of time, and they might not be stuttering as an adult, or they might be stuttering as an adult. And they do a lot to wiggle around that, and those conversations need to be had because there's a lot of solidarity that.
shelly: Families can really achieve in having these conversations around the dinner table about stuttering and who's stutters. Then if there's ever moments that relatives feel, I, I find in genetics. As I am taking DNA from people and asking about their stutter, I'll say, they'll come to participate. And I'll say, do, did you stutter as a child?
shelly: Do you start, are now trying to get some information? And I have a lot of people who will say I stuttered as a child or as a teenager, but I don't stutter now. But when I ask further and say, what about when you're upset or when you're emotional, you, do you ever in any situation ever still feel that tension?
shelly: And they'll often say actually, if I'm really upset or if I'm really tired, I'll still feel that. So it's interesting to me, as a scientist, looking at identity of being someone who stutters how readily someone will say, no, I don't stutter anymore. I've recovered even though they still do and certain times, and we need to get rid of the stigma associated with that.
shelly: So people can, very openly. Speak about that. And in doing so can offer themselves as support for other people in the family who are working through their stutter, managing it and wanting to embrace it. It really facilitates that to happen. So it's genetic.
uri: I would just want to just ping on that for one second, which is, it's so interesting.
uri: And I just want to highlight what you said, that the value of understanding that it's a genetic disorder. Should be liberating. It should relieve feelings of guilt and shame. And at the same time, I see a misunderstanding often. And I am as recently as two hours ago, talking about it with parents. There's a feeling of that.
uri: That's a prognostic fate. So looking at a young child who stutters and they're searching up everything they can find and they find out they got questions about genetics. It's if it's genetic is it an open variable? And if my two, three, four five-year-old is stuttering and it is genetic and there's a family history, I guess we better buckle up for a lifetime of stuttering.
uri: And I think it's interesting how, what you were sharing and your hope is that it can contribute to taking away the stigma and the shame. And in this family, I said the same thing. I said, look, this father is beating himself up that he said something where he let the child down, or he didn't hold their hand.
uri: At that moment that the dog barked and at the same time, mom is talking about a genetic predisposition in her family. And I said if we put these together, we've got a very loving, caring parents on one side who wants to make sure he does the right thing and that's beautiful. That's going to help the kid.
uri: You're going to be part of the solution here of supporting this kid no matter what happens. Win-win but mom's history story concern actually is. Something dad could turn to and say, Oh wow, there's a predisposition. So that should allow me to let go of the feeling of guilt. So I think that's really powerful.
uri: It's a very meaningful, emotional, personal takeaway. Yeah.
shelly: I, I think that our, and I'm sure that you've had lots of people who've spoken to this. We just, it's never ending mission to educate everyone about stuttering and the nature of stuttering and. Just the genetic aspect, I think is really important.
shelly: It's really critical. And it is important within that family landscape, but I think it's also important for all of the listeners that are going to be in your work environment or in your child's school, or, just the general population to understand that it's a genetic, just to dispel everything that.
shelly: Stuttering sometimes carries with it, things the Hollywood have contributed to, or like I'd mentioned before the stereotypes.
uri: Sorry. That's one. So one important thing that you want people to know is that your scientific work and discovering the frequency and the prevalence of the fact that there's a genetic predisposition should be a source of.
uri: Of relief and contribute to changing the stigma and the shame that is often associated to date. And part of that movement is to recognize it is what it is and it has a genetic predisposition.
shelly: Yup. The other thing is that stuttering is very complex and I really, at this point in my career, I am beginning to fully understand the depth of that complexity.
shelly: It, if I can draw this comparison. I was thinking about this last night because I like to watch lots of different shows on, scientific, frontiers exploration into space or the ocean, or, I'm just now learning. I'm listening to these podcasts on quantum physics because I feel robbed of getting to take many of those classes when I was in college.
shelly: And it's really fascinating, but as a geneticist, We truly are astronauts or Octonauts in our understanding of what we are working with and dealing with in the human genome and how it operates, in the same way that space feels like a huge entity of unknown. And the deep ocean as well. We are in that exact same place as we approach genetics and the more technology advances and the more sophisticated we become with the way we can look at this, the more we understand how much we don't know.
shelly: And the more it. It is really just mind blowing to, to approach the complexity and try to approach the biological mechanisms that are driving stuttering because it's so highly heritable and it runs in families and we are talking about 85 to 90% genetic contribution.
uri: Can you just explain that stat because that's always tells stories.
uri: Yeah.
shelly: Ability estimate really just explains how much of the trait you're interested in. The phenotype can be explained by genetic contribution. And we know that all genes are your genes plus the environment, plus your genes, times the environment. So the interaction effect between what happens. So unpack that after.
shelly: So I can, I, I do I use this analogy in my classes and how I unpack that is you can I'm sorry that it's a a weight loss analogy, but it makes sense to me at least you can have yourself as your person and you can have how much you eat cake, right? That's also for me. Sorry.
shelly: I'm so egocentric. I love cake. So I am,
uri: I put it away. I put away my cake and my Ben and Jerry's for the sake
shelly: of this Congress. And that's going to equal say my weight or my body physique, but then there's also this interaction effect of how much I've been eating cake. So then I have this interaction effect of what the cake does to my body and whatever has happened from the amount of cake that I've eaten.
shelly: And that actually. Is what contributes to the end result, right? It's not just a one-time here's cake plus the environment. If this isn't just me plus cake, this is me plus cake in this time. Plus me times all of the cake that,
uri: and my metabolic predisposition
shelly: training. My, I have all of these things from all of that interaction in the past, or.
shelly: So
uri: we can be fair to say heritability, let me just ask you this. Would you say it's fair? Like also people who stuttered one of the common themes that's come up in these conversations on the podcast is the concern about, coupling up and bringing children into the world. And the fear that if I stutter.
uri: What's the chance, probably pretty high that my child is going to go through that. And I'm scared about bringing a kid into that. We were like that I always
shelly: take that you are such an incredible human being to be the parent of that child. So there, there isn't a downside here, right? Yeah.
uri: And tell me, put me in check because you're the expert.
uri: I say the heritability numbers are very helpful looking backwards. And telling you how you got to where you are, that it's not your fault, it's nobody's fault. And it wasn't some experience. There's a super high likelihood that there is this presentation of this trait in your past, or maybe carried out and not seen and not expressed, which should relieve you of the guilt and responsibility and shame and guilt about that.
uri: It is not prognostic. In its nature. And certainly when you have an end of one, when you have one person, so the likelihood that you could pass it on is high. If you have a hundred people, but if you have one person there's no, it doesn't mean this is exactly 85% statistics on one. Don't speak the same as they do to an N of a hundred.
uri: So I find it liberating to look at genetics backwards and unless to prognose. Does that sit well with you?
shelly: It does. I think the other thing that I is rather exciting to me and meaningful is that we are revisiting all of our epidemiological Numbers that have been created around stuttering. We always reflected back to the 1960s and these studies that reported that five to 6% of children will stutter and 1% of adults stutter.
shelly: Since the world, the globe has moved to electronic health records. And has moved toward well baby visits that are done at very regular increments and surveys and screenings for all of the children at different time periods that are specific to their development for each of those well-baby visits.
shelly: What we have are more accurate population estimates of how often people stutter and what we're finding. Globally. And this is reported in Japan. This is reported in Iceland. This is reported in Australia, is that the estimates are closer to 10 to 15% of people have ever stuttered. And that is huge.
shelly: So more of the population. Has a stutter than we ever anticipated. And, it makes sense to me because like I'd mentioned before, when I asked people if they stutter and they say no, or they did, but they don't. Now the reliability of that is sometimes a little bit, they might be answering no to where the populations statistics were gathered before.
shelly: But the answer truly is yes. And we weren't able to capture young children, I. I have this all the time, as well as I'm collecting pedigrees and trying to look from one generation to the next, what relatives do you know of? And. We lose the information. Once grandad passes, who's there to say granddad had a stutter when he was two or three or four, right.
shelly: Or who's even there to speak to granddad's if he truly has a stutter, even, at this point in his life, granddad is the one that would need to, but if he started as a child, he might not have memory of that because as a parent, There's lots of things that my children have gone through that have gone away.
shelly: Thank goodness, nose picking or who knows what the, my children, I have two boys. So forgive that one, but they're not doing it now, which is great. They might not, when they're 90 years old, be able to reflect back on things, whether they. Had articulation errors or, they might not be able to
uri: accurately thought about how to capture that in a time capsule so that it's saved for them.
uri: So they have those embarrassing moments, the naked pictures, I'm that kind of a
shelly: mother I will come back up. Yeah.
uri: Very important. Very important that they do not forget. They used to pick their nose and run around naked.
shelly: I think that now that we have these electronic medical systems and we are doing these well-baby visits, we're getting much more accurate data on exactly how many kids stutter and we're getting much better information now.
shelly: We just got my collaborators and I just got access to 23 and me data which has a question. Have you ever stammered or stuttered and it asks, a couple of follow-up questions just about developmental stuttering and. Oh, we just got the data, which is 55,000 people who said yes to having had a stutter.
shelly: But what we get then is the genetics from all of those participants, we get to unpack this and once we find the genetic variance, that's. Sit within this population, we can start to look across all of our population data and say, how common are these variants in the general population and for people who carry these genetic variance that can contribute to stuttering.
shelly: What happens to the population that carries these variants, that don't end up stuttering and what's mitigating this and that is that genes plus environment. Plus genes, times the environment interaction. That's, what's really hard for us to capture because when I mentioned before that the genetics of stuttering are complex, it's complex.
shelly: And that what we're finding is that the variants that contribute to stuttering are population. Based variants that are very common. So a lot of what's contributing to stuttering in one individual, those genes can be present in other people who don't present with a starter in. And that means that we have some interaction effects, some regulation effects, some other things that are happening here that are contributing to this phenotype, this outcome, this trait that we get at the end of the day.
shelly: And this is exciting. This is the pathophysiology. This is the great space, a BIS the ocean of bits. This is the, what is there? What is going on? How can we understand that? Because what we have is the top down approach of these are the traits that we see with stuttering. These are the experiences of people who stutter.
shelly: This is what. People who stutter can tell us about themselves and about their speech and their, and what's happening and parents and families, we can see it from the top down and with genetics, we can take a bottom up approach and say, okay, here are the variants that are contributing to the etiology to the cause, but the really exciting juicy bits for us as a field.
shelly: Is to understand how the genes create the stutter, what is happening. And it's more than just seeing an area of the brain light up. And an MRI, or it's more than just seeing an anatomical difference that we see and in white matter tracks in the brain, what does that mean? How does that manifest, what's regulating this?
shelly: What types of transport mechanisms, what type of metabolic processes, what exactly is creating this disruption in the motor speech plan that has sometimes a very sudden onset what triggers that. What makes some children recover from stuttering? I have two sons and the wildest thing is that I was working in this field for 12 years before my first son started stuttering.
shelly: And it said it's on his dad's side of the family. His stutter came on like that. No joke. I was working clinically in the field. I was a scientist already. I knew there was family history. I was keeping quite an eye on this and I came home one day, one night, and he was just about to turn three years old and we were sitting down to dinner and he couldn't say a thing, not a thing.
shelly: Everything was stuttered so severely. And when I left for work that morning, I had not seen hide nor hair, the stutter. My second son also had a stutter, but his was gradual and came on very slowly. My first son, after working with him, his stutter went away and I will tell you, I never ever see it to this day.
shelly: It is gone. My second son. It's mostly gone, but I still see it. It's still there in those moments. So what creates that difference? What creates that onset? That can be so sudden for some children. And so gradual for others and the
uri: idiosyncratic newness of the hot and heavy coming on with really severe stuttering, sometimes resolves quicker or more fully.
uri: And those that are a bit more mild and presentation sometimes linger longer. So a lot that also upends a lot of what. At least common knowledge out there, or, need for update, update your app for, version 5.0, you're still on one point. Oh, looking at the stuttering on the front end is not the only thing to look at in terms of prognostic suggestions of whether it's going to resolve itself or whether to get involved or not.
uri: We need to look at a couple of different things together. But I see that clinically, you see it in the research and in your own family, the hot and heavy sometimes resolve. More fully than those that are more mild in the presentation. And yeah
shelly: And, I worked I worked in Nicholeen Ambrose and longitudinal study.
shelly: I was one of the student clinicians that helped to run over 1200 children who stutter right in your onset. And they tracked them and followed them for years doing three and six month. Checkups, at those intervals to try and look at those types of trends that I was talking about.
shelly: Those kids that have a sudden onset versus a gradual onset, what type of prognostic indicators can we conclude from either of their severity trends or onset trends. And, at the end of the day, For me as a clinician, as a geneticists, as the mother of children who stutter as someone who is just really in love with the mystery of this disorder as well.
shelly: I want to understand it. I want to understand it and that's what we still need. And that's what I'm hoping these genetic discoveries are going to help unwind. Is what exactly is going on for these kids? What is regulating this? So my, my genetic work really is important because not just for identifying the genes, it's important, so we can understand the mechanisms that are driving stuttering so that we can come up with new therapeutic approaches, perhaps, sometimes.
shelly: Sometimes it can be very simple and very easy to change the neuroplasticity. Sometimes it can be dietary in nature. We have spinal bifida with just a folic acid prenatal. A supplement, and that's it, but it took a genetic finding to be able to understand that it's this metabolic pathway that just needs a little boost at this time.
shelly: I think that's really where it's going to be fun and exciting is to not just have these gene discoveries, but actually map it onto the clinical work that we're doing. And how can we use this? To
uri: help. Are we there yet? Or when do you think
shelly: we're very close? No commitments, but we're very close.
shelly: I have through the collaborations with Dr. Janet bilby. And Kathy in Perth, Australia, we have over 250 families with three generations of stuttering. We have DNA on all three generations. Right now we're conducting linkage analysis. We have one family that is absolutely huge in size. We have five generations.
shelly: We have great granddad who is celebrating his 100th birthday this year. Who has a stutter and all of his, subsequent family members as well. It's beautiful family. They're absolutely incredible to work with. We are working on there's
uri: heritability and then there's inheritance, they've inherited a wealth of.
uri: A wealth of stuff from grandpa
shelly: they have. So we are right now analyzing all of that data. The pandemic kind of pushed us into looking for. Data within electronic medical records that we now have available in the United States where we could take I've been collecting samples from people who stutter from across the world for many years and we've taken their profiles and their genetic profiles and what we have on the case history.
shelly: And we've used that and their DNA to help inform. Decision tree classifier within an electronic medical record system where we data mined for cases that said something about developmental stuttering. So we went in and said, okay, who actually has somewhere in their medical report, a reference to having a stutter and not as better related to traumatic brain injury or any other Form of stuttering that does exist in electronic medical records, but what is significant for developmental stuttering.
shelly: And then when we had created this group within the electronic medical records, we then could use their entire health history. Because we don't get access to electronic health records until people have passed on, there are no longer humans to consent for research. So what we have is the entire health history of someone who stutters and we have that for an entire group.
shelly: When we first approached the electronic medical records. What we noted is that if we took the population statistics and applied it to medical records, There we're nowhere near the number of people in the electronic medical records with mention of a developmental stutter in their case history. As there should have been to match the population statistics, even if we went to five to 6% of the population.
shelly: But the
uri: population statistics that you were working with before that you mentioned findings of up to 10, 10% of incidents that was based on. What was that based on now? What was that finding?
shelly: So that's fun based on publications and reports that have come out of Japan, Iceland, and Australia. So that higher prevalence is starting to emerge.
shelly: And what's interesting is that when we went to the United States, electronic medical records, we didn't even see the five to 6%, obviously nowhere near the 10%. So we knew that there were medical records and DNA available to us. That were unidentified. So what we did is we took the cohort of those that were identified within the electronic medical records 30,000 and which is a significant enough pool to actually create a broader phenotype where we can include.
shelly: All sorts of other conditions that seem to be statistically significant for this group of people who stutter. And then we could take that profile and data mine into the rest of the electronic medical records for people that match that profile, but did not have mentioned of the developmental stutter and you and I as clinicians.
shelly: I'm sure can blatantly acknowledge that there's going to be a lot of people. Who've seen the doctor, how many times for a million different conditions and the doctor has never once written down that you have a setter. But that's, they don't medically treat stuttering. You're not hospitalized for it.
shelly: You're not prescribed a medication for it. So really doctors don't. Make note of it in many instances. So what we were hoping to do was take this profile and identify all of the other people within the electronic medical records that share with that profile, who's likely had a stutter and then we can use this combined group to be very well powered for genetic detection.
shelly: And that's where we're at. So we have that, we have the 23andme data. We have all sorts of we're right there. This is a big year and we definitely have significant findings. And for me before, before I. Start to broadcast what those are. It's important for me to validate.
uri: Come on.
uri: Just a little, you can qualify it. You said we had to wait till now I gotta drop some little I'm on the edge of my seat. Hold on. Okay. Listen, the 23 and me, let me dig a little bit. Maybe you can like, just hint with a wink or not, no comment, but with the 23 and me there, you said there was a questionnaire.
uri: So people actually indicated if they had any observable. Memory of stuttering plus you've got the phenotypes and the gene data. So
shelly: my collaborator and she is absolutely phenomenal. Piper below she's at Vanderbilt university. We have worked together, I think for 13 years now, maybe even long, 15 years.
shelly: She is just absolutely phenomenal. She was the one that first. Came forward and was like, let's get this data. 23 million was opening this up. So it's been quite a long legal,
uri: Yeah. We need to get
shelly: some of this data.
uri: Unlike the U S records where you said the limitation is in the medical records, there isn't an indication necessarily a report of stuttering, but you're looking at just extrapolating from the data that, these are people who reported stuttering.
uri: This is the phenotype. We can extrapolate that to a similar profile group. And then you have something to really work with the 23andme. Is it better than that? Did you get some numbers in terms of incidents? Prevalence in that group that was different than what you saw in the U S data, because there you have both, you have the observable senators,
shelly: by the way, in the electronic medical records, when we actually identified this entire cohort of people that likely had a stutter, it's about 10%.
shelly: I think it's almost 11
uri: 23andme. Was it different or was it more, was it less?
shelly: It was around there as well. We absolutely are seeing and I. The numbers that we are seeing within our datasets right now are between nine and 11% from all of the different ways that we have been approaching those in the electronic medical records are 23.
shelly: And me, we absolutely are seeing much higher prevalence.
uri: Interesting. And you talked about one interesting side of his, like what's to say the medical professional recorded it. If there was a conversation, maybe it wasn't recorded, but we also know, and I think it goes back to again, Erie seminal work, right?
uri: The data was collected from coming into the clinic. And the people that got to that stage in the process. So the numbers we work with am I right? Are based on like self-reporting coming in. The ascertainment
shelly: bias, absolutely exists in a lot of these instances. And even that five to 6% of the population who has stuttered that we use from kind of the 1960s, epidemiological reports.
shelly: You had to have had a stutter for six months or more to be included? We know clinically that there's lots of kids who started for less than six months. They still should be included
uri: in those numbers. And your son, would your son, the one who came on hot and heavy and it resolved quickly. And I've had that.
uri: And my father claims I had a bonafide stutter, no one better to decide than Dr. Phil. It was like one morning and I just was waiting for carpool and it was like a true stutter. And it was just that morning and it came and went by the way, he got a lot of compliments on your yellow, pink, Yeti from a Steph BSAC.
uri: I would love to know what you drink in the morning. First of all, cause you're always high on it, full rev. And passion. And I'd also love to get your reading list and your watch list, because like you said, you're studying like people talk about space exploration, people talk about the ocean and how much is yet to be discovered in the ocean.
uri: I would say That's outer space. And you were exploring your, the frontiers of inner space. Yeah. Got to come up with a good name cellular space. There's gotta be a good like gin genomic space, yeah. Just
shelly: A cool suit that goes with that, yeah.
uri: Better, better than Q-tips better than Q-tips with saliva all over them.
uri: I was working with Q-tips. I would want a suit
shelly: that we always dream of as young children, you
uri: know, but. You were wearing like full PPE before PPE was a thing. As
shelly: I was trained as a phlebotomist back in the day and would take blood samples. I am very pleased that I no longer have to wrangle people down with needles or carry coolers with blood.
uri: Yeah. And it's gotten easier, people that want to be part of any of the gene research. Yes, absolutely. You
shelly: can sign up online. It's very quick consent. I shook you a kit. You the watch a YouTube video that is three minutes long on how to give me a nice clean spit and it's a prepaid envelope to send it back.
shelly: So anybody who wants to be a part
uri: of it not getting political, everyone should stay healthy and be tested and get the vaccine and everything. But even if you have a fear, Of like COVID testing or anything like that. You could still participate in this research. It's not. Yeah,
shelly: because you're not in contact with anyone else.
shelly: Really. You're getting
uri: do it at home on your own. Just a little bit of spit. It's your kids who pick their nose could even,
shelly: they could put their boogers in there or
uri: anything. Is that right? It's gotta be clean spit, not, nothing grows. Just spit. Just that. Would your, so what I was saying was would your son, the one that came on and with the stutter and then resolved or myself, let's say, would we, would you expect that we would have that presentation in the profile of the jeans?
uri: Would you expect that, that quick onset offset and R are we present in that 10% or we're part of a cohort that's even a larger. Incidents, meaning that people who stutter like myself, let's say for a morning, or for a cue comes on with a stutter for a week. It's not going to be in the medical records.
uri: And we know there are those kids that
shelly: have that. If you hadn't had the father, you have even known that you started for a week. So it would be
uri: absent from the incidents. I'm just thinking, I often say my father often says, but it's really a question I'd love to throw to you. Do you think that as we roll the tape back and we say for kids who set up for six months or more, these are the numbers we have for kids who set up for three months or more.
uri: It would make sense that the numbers would even be greater. And as we roll it back, how many kids started for a month or more? And what I love about what you're saying, it goes back to the first thing you said, the excitement of the gene research, in addition to the potential to get to a place where it's clinically insightful and offering us a better way to provide response and support and care.
uri: It, it normalizes it and it says it's not your fault. And if we see incidents rates that are higher, it's I think of it like all the work Trisha does at broski and hope and Naomi working on openness, as opposed to concealment. If we can show the incidence in the general population is far greater than we had thought.
uri: It's opening that up. Maybe it provides the opportunity for more people to realize you're not alone. Even if you haven't been to NSA, you're also not alone, but you should also check out NSA national stuttering association announced that they're having a live conference this summer.
uri: No place better, no more exciting in Austin, Texas. Shelly will be there. I'll be there. And a couple other interesting folks that we like to hang out with. And friends also, and friends actually was the first to announce that they're having a lives. Meetup conference and we should all hope and pray that everything stays well, that we can do this, but everyone's craving to see each other.
uri: That's going to be in Denver, Colorado. So you can check that out for checking out their conferences and getting your reservations and hotels fill up fast. So reserve a room, even if you don't plan to book your tickets yet. And you'll figure out all the details later, but get your vaccines that's for sure.
uri: Wow. So for today, is it accurate that the, what we know about genes and stuttering on the one hand is like, Blasting us forward with far more knowledge than we had just like five to 10 years ago. That'd be fair. And at the same time, what's the what shouldn't we do with that? What are the limitations as of now, we're not there yet in terms of clinical treatment, in terms of prognostics is there anything there?
uri: Cause that's where I see people running into running away with the data, so to speak and misinforming themselves. Any thoughts of just like, how far can we go with this? What are the limits? As of now, before we get to the point that we can really do some practical, actionable work with it.
shelly: I've really been trying in my own personal practice of my work and my mindset, my clinical work. And I've been really trying hard to stay in a place of possibilities and not a place of conclusion. So I want even in responding to your question, I want to stay in a place where. We can approach this with the idea, but the possibilities are endless and we haven't created them yet.
shelly: And we have choice with every step of the way with what we do with the information, how we perceive it how we move forward. And we just continually create more and more possibilities with that. But when we come to a place of conclusion or we come to a place where we've decided that this would give us something or would mean something or would do something, we limit the possibilities that could exist by just staying in the question of what can this mean?
shelly: What could this potentially do? How could this change things? How can it get better? Then this, how what else?
uri: So we should your curiosity and excitement is infectious. I feel like I should wear a mask. Trudy is pushing on the clinical implications, but I love what you're saying.
uri: So I'm just going to amplify it and see if it's resonant with what you're saying. People should be excited about this journey of discovery. That's continuing to unfold. There, there are many exciting possibilities and more and more that you're moving that frontier and moving it yards forward and the possibilities are wide open.
uri: And although today, Here's what we've got. Here's what, we're not sure yet, but we're wondering about, we should keep that open mindset. And at the same time, nobody should jump into the genetics in a way that precludes other possibilities as well. In other words, don't think that limits looking at other fields of input or data.
uri: So for example, once we get a phenotype or once we can figure out how this contributes to the profile of like subtypes of people who stutter and what kind of different treatment might deliver, we should also still be looking at. Language skills and social thinking. And
shelly: I know we're almost out of time, but I have a doctoral student who has created an other health inventory specifically for people who stutter it's available online, it's anonymous, but basically you go through and you create your own medical history of everything else that's ever.
shelly: Been diagnosed and that's because what we've found with looking at those electronic medical record is that there are some conditions that are statistically significantly showing up for people who stutter that are completely unrelated to stuttering. But it alludes to shared pathologies, shared networks, shared regulations or things that's going on.
shelly: And when we can look at a broader phenotype of stuttering and understand more about what's going on with your entire body and your entire experience and how all of this weaves together, we can really Trudy it can really have clinical implications. And that is the goal to do something meaningful with us.
uri: There's no question that very few could pack so much substance into this limited time. I will tell you, you should feel very accomplished if you don't already one person here Amy wrote finding out about this genetics took the blame off, and I started to view my stutter, just like any other disorder.
uri: So I think. Amy's one of many people that have you to think and your team and the people that are really diving into this inner space, the Genestra knots swimming and spit and saliva to really sacrifice yourself. You're a standup paddle boarder, right? Like you probably stand in the paddleboard in the lab all over this pool of saliva, as you do your work and data crunching, but it's you to think and your team for adding that kind of knowledge, which not only.
uri: Opens up scientific understanding, but also like personal release of possibilities and opportunities and just a new story. Because if someone's living with a story, I either it's my fault or it's my fault that I did something wrong and that's why my child is going through this. Or what's the point?
uri: My fate is destined, here's destiny. I always say that if I had my chance to go join you in the lab and do my PhD, I would look at. Intergenerational adaptability or adaptation bettering sweet. So if we could, if you could think about layering this in, you could save me the trouble. When you're doing all the data, I would be very curious, great grandpa, a hundred year old.
uri: How did stuttering impact his life? How did he bounce back? Or how did he get buried? I think of siblings who moved to America, first generation Americans, one of them made a killing in real estate and one of them who was smarter than the other drives a taxi. Cause you didn't want to have to talk to people cause he stutters.
uri: And so for him, that's precedent of adaptation probably goes along with temperament as well. That to me is an indicator for Trudy. I'll give you one clinical takeaway. If you see that in the family line, I think that's as transmissible in a different way. But perhaps, does temperament have a stamp in the genome?
uri: Absolutely. Yeah. So we could look at that too. That to me, that would be fascinating,
shelly: huge. Our personality attributes are inherited. And also there's this really cool thing. That's coming to the forefront on cellular memory. And I was actually, half of your DNA lived in your father's body for 20, some 30 some years and your mother's body and experienced their lifetimes and your grandparents as well.
shelly: And there are cellular memories that are carried to you from your ancestors. And we are just now beginning to acknowledge that and dive into. How on earth does this happen? And what is this? What is this?
uri: Listen, thank goodness for the helix code and thank goodness for all these discoveries, because they opened up another door and you're going to unlock more.
uri: And others after you and your students are going to unlock more, we are all evolving with knowledge, thanks to people like you. And we should recognize it, as you said. And I love that it's such an open book. The next chapter hasn't been written yet. And we can't limit what's possible. So with that, I'm just going to take your energy and I'm on fire for at least a couple of days till we talk again.
uri: I want to thank you. Any parting words you want to leave us with because I'm so stoked. Thank you.
shelly: Just thank you for inviting me to give this interview today.
uri: Really appreciate. Would you promise that if enough people. Or request your return. We could do that before 2030,
shelly: absolutely 30 though, i,
uri: yeah. Find a spot in your calendar. Oh my goodness. Do an Austin. We'll do a, live a live something. When you get excited about some presentation, we'll just like,
shelly: absolutely. Absolutely. This is a big year. There'll be lots of stuff coming out this year formally and I'd be happy. I'd be happy to chat again.
shelly: Okay,
uri: Trudy, you can hold me to it. We're going to make sure that Dr. Shelley Joe Craft sends me some articles so people can dive deeper on this. It's been an enlightening and informative hour. Thank you so much, Shelly Jo. Thank you. Pleasure.