Reversing Course: Down Syndrome and Regression

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It's so we're excited. It's to kind of get into this topic with our guest today. Um, so today we'll be speaking with a wonderful mom who has experienced something that every parent dreads , um, their child regressing and losing skills.

Regression in Down syndrome is receiving a lot of attention in the medical and research literature as the incidences of regressive episodes unfortunately seem to be increasing, or we're just becoming more and more aware of them , um, especially in the face of something like the Pandemic. So later in this episode, we will be discussing regression in Down syndrome with two leading world, two world leading experts.

But first, we feel it's really, really important to understand the impact of regression from a parent's perspective. So we will be joined by Cindy Harrison. And Cindy is a stay-at-home wife and mother of three adult children, ages 23, 21, and 18. Her youngest Kaylee has Down Syndrome and is the only one still living at home.

They live in rural Thunder Bay, which is a , um, city in eastern Canada , um, in an off-grid house on top of a mountain. Cool. We, so Cindy has homeschooled all of her kids, including Kaylee . Um, and Kaylee became ill last summer with , uh, down Syndrome regression Disorder, which will be the , um, focus of our discussion today. So welcome to the lowdown . Cindy , thank you so much for joining us.

Thank you for having me. Great . Um , okay . So in the tradition of the lowdown , we like to start off our podcast with five secret questions just to get to know our, our guests as people first before we kind of get into, into the , the , the serious discussion. So, would you be game for that? Sure. Awesome. Okay. So I'll get started. Um, question number one, what are you currently reading or listening to?

And I, I'm , I don't actually recommend sort of screens to , at the end of the day before you go to bed, but that right now is sort of my only little piece of

Sure. Um, so, you know, and now I use a small French press rather than having that Keurig plugged in and that hot water all day long. Mm-Hmm . , um, I do all of my cooking on the stove or warming up in the stove. There's no more sort of nuking that cup of coffee 10 times during the

She did Special Olympics, rhythmic gymnastics, she track and field , um, I'm sure there were other , so she was al always doing something. She was very active, very athletic. We always have joked about she's the healthiest one in the family , um, very fit, sassy, funny, chatty to the point where you're like, can you just stop talking for like one minute, please. . Um , and she'd be like, one more thing.

One more thing. Um, really the joy and spark in, in our life. Mm-Hmm. . Mm-Hmm . .

, she was , um, you know, somebody who had , you know, self-talk was always something that she did to a pretty high degree, but it began to escalate to the point where we were really having a hard time engaging with her that she was, it wasn't, it was like, she was, wasn't just self-talk, she was really in her own little world. Hmm . Again, we, we didn't know at the time really what was happening.

Um, we were trying daily to, to sit her down and have a conversation time so that she would focus on us and connect and answer questions , um, and share with us. And that was just getting harder and harder and harder to do. Um, there were other things happening again, you know, we didn't know at the time. Um, she wasn't sleeping like she, again, she was always a night owl.

So, you know, we didn't see that as immediately a sign of something that was wrong. But there were more and more nights where she would be wandering the house at like one o'clock, two o'clock in the morning. Um, her creative imaginative play escalated again. You know, she always liked to dress up.

She was always, you know, she loved her movies and the characters in the movies, but it, but it began to escalate to a point where, again, we, we weren't sure what was, what was going on, but it was like, they, like, it crossed a line , um, Mm-Hmm. , and it was becoming a little bit too extreme. Mm-Hmm. . Um,

And she would just say, I'm just talking to myself. And it's like, okay, well that's fine. Mm-Hmm . Or she's talking and sort of doing a scene from a movie that she saw because she's sort of processing it and remembering it. So , um, there was nothing at that early stage that was concerning to us, other than it was so extreme that we felt like she was slipping away from us even being able to engage with her.

Mm-Hmm. . Okay . And see around that time, she had been doing this, this weather show on Facebook for three years. This was a homeschool project because she liked the weather. She wanted to do videos, and it just sort of morphed into this weather show. Um, and I remember that it was July 10th last year that we, we said, okay, we're not, we can't do this anymore.

She was still willing, but there was, we knew that there was something wrong . Mm-Hmm . . And she was starting to lose her voice. She was becoming hoarse . Um, and that, you know, know now that I've had the opportunity to talk to many families whose loved ones have, have experienced regression that is so common that that selective mutism Mm-Hmm. .

Um , so that was sort of the next thing that happened where we were like, oh my goodness. Like, what, what's going on here? Mm-Hmm . , we, at the time, we thought that , um, we thought it was a thyroid issue, right? Mm-Hmm . , we thought , Mm-Hmm , , that's okay . It'll be a pill that'll fix it. Um, because it looks like she had muscle weakness.

Um , we know now, you know, be as it progressed, it wasn't because she wouldn't touch the car door . She wouldn't , um, pump the soap pump in the bathroom. She wouldn't, you know, turn the taps on. We thought that she was feeling like she was too weak to do it. Um, so again, we thought it ticked the boxes for, for some thyroid issues and, and, you know, went and had blood work done.

We know now that that was , um, it was OCD Mm-Hmm. . Um , and, you know, it wasn't that she couldn't open the car door, it was that she didn't wanna touch the car door. Mm-Hmm. as an example.

Like there were some little things in the beginning, but then you're describing not opening doors, not touching soap, a lot of self-talk and withdrawal. And that not the Kaylee that you described initially who was involved in the everyday and had her own TV show on Facebook. Right? Yeah . Were there other ways, was she a still able to eat with the family? Was she withdrawn from family life? She was

But it was really, and it , and it did happen . I mean, that sort of happened over the course of, you know, a month, I guess. Mm-Hmm. , I don't know . But then she had , um, she had a, a full psychotic break that lasted about 48 hours. Um, that was the end. Like, that was when, you know, that she became pretty much bedridden , um, for weeks after that.

I mean, that was when we knew, alright , this is, we, we have no idea what this is, and we don't. It was the first time in my life that I have ever called a crisis hotline. Right . Mm-Hmm. . And you're always like, you don't call Christ hotline that I, you know, we had, we'd had nowhere to turn. Mm-Hmm. . Right . We had no idea what was going on.

And that, that, that psychotic break is what took us to emerge. And then we sort of started doing research and , um, Mm-Hmm. , you know, found a name for it and Mm-Hmm . started to get some answers. Mm-Hmm.

Um, so the first time, again, you know, if you've, if you've never taken your delusional psychotic child to emergency and had to be there for like seven hours, like that's like the , the worst experience ever. And she hadn't slept probably in two or three days. Right.

Um, the, the only thing that I think it helped us with, and they wanted to admit her , and I, I did that thing that I'm like, I think I've seen this in the movies where you sign the form saying, no, I'm taking my child home. Um, so we did not wanna admit her. We, we felt that that would make things worse. That that was not something that would , was going to be helpful.

But it did kind of speed up us getting like an MRI done. Yeah . And, and it's, it's unfortunate because it's like, you can usually get those things done quicker if you're admitted. Right ? Yeah . Um , but the ER doctor we had was concerned enough that she followed up with us and she pushed a little bit to get us in for an MRI , um, sort of within the next week.

So , um, there was , there was that decision of, well, if we stay, we can get these tests done faster, but we just, we just didn't want it . We didn't wanna stay. And the other time where we went to emerge, I don't know , was probably, you know, months later where Kaylee was, was in distress. Um, and she was having issues with her vision, and she was like, you know, it's so hard.

She was like, begging us to take her to the hospital because I'm sure she was wondering why is nobody do , why are they not doing anything? So we did. But again, first of all, it was obvious to them, this was a complex medical situation. There were already doctors involved. There was no immediate emergency. Yeah. They, they checked all her vitals. That's basically the only thing that we got out of that visit.

And from that point on, you know, we had a blood pressure machine, we would just check her vitals at home. Right. Mm-Hmm. . Yeah .

Um, and you're doing an amazing job in sharing this very hard story. Mm-Hmm . . And did you wanna take the next sort of link section? Yeah. So kind of just moving forward , um, when and how did you discover that this was more than thyroid? That this , there's something going on and kind of come upon the Down syndrome regression disorder?

But , um, I, I remember, and I probably have record of this, that I contacted the Canadian Down Syndrome Society and, and, you know, to see if they had any, any answers. Sadly, I didn't get anything from them other than , um, the, the suggestion that it, of, of early onset Alzheimer's, which is ludicrous , but whatever. Mm-Hmm .

Um, but it certainly was the first time when I went, you know what, there's not a lot of information out there about this. Yeah . Right. Like, what? There's no , um, so it was through Googling and Facebook that, that I found the word regression. Mm-Hmm . And then found , um, the Facebook group that Eileen started.

Um, and that was the best day ever because it was like, oh my goodness, there are people all over the world and they understand this. It was also a little bit frightening because , um, it was clear from those discussions that there was a lack of knowledge out there Yeah . In the medical field and , and that Mm-Hmm .

, um, people in, you know, certain countries were, were fighting to get the treatment that they needed, or even to get doctors to listen to them. Um , Mm-Hmm . . And that there were families, they were 10 years in on this journey, and they still were trying, we say, get their kids, get them back. Right. Get them back. We all talked about getting them back. Mm-Hmm. , right? Mm-Hmm. . So that was pretty freaky.

I , it was like, oh my goodness, I don't, I don't, I don't think I can ha like, I don't think I can , I can handle this, but what , what are you gonna do? Right? So , um, yeah . So it was really finding that regression group and getting the information , um, that they had made available in the group from Dr. Santoro. Mm-Hmm . . Um , and thankfully, oh my goodness.

And again, we're the lucky ones that , uh, we have doctors. I have a family doctor who like, I went in and said, here's what we think it is. Mm-Hmm. . Um, these are the tests they say we have to do. Now I know many doctors who would be like, well, I don't even know how to read that test when the results come back.

So, or I don't know what this is, so I'm not gonna do Our doctor ordered every single test on that list. Yeah. Didn't question us. Yeah. Right. I think that's probably rare to have that happen, right. . Yes . So I don't know how we lucked out it Got that . Well, you know what, and I think this is sort of another little piece of this , um, we have a really good relationship with our doctor.

We have advocated for our other kids over the years. Mm-Hmm. . So we have that rapport with her. Mm-Hmm. . Um, I think that it's almost worth developing something so that families in our situation have a mentor or an advocate. Because if, if you go in and talk to a doctor and you don't, and I , I don't , I hope this doesn't sound bad, but if you're, if you're not a, to articulate to a certain degree Yeah .

Um , informed to a certain degree and have that insight of how to speak to your doctor. Mm-Hmm. , you're not gonna get anywhere with them . Mm-Hmm. . And that's not fair at all. No . But that's the reality of it. If you, if you annoy your doctor, or

Um, and as our listeners will kind of find out later in the podcast, when we talked to , um, Dr. Quinn, who we referred to a bit earlier, she said the same thing. She said, you know, parents are gonna unfortunately have to be the ones that teach the doctors in this case, because yeah , this is something that's newer on the radar, but that doesn't mean that they shouldn't listen to a parent.

'cause they know their child best. So I think your story is gonna hopefully help a lot of other families being like, you know what, I'm gonna go, I'm gonna go in with this list. I'm gonna go in , tell them what tests need to be done. Because, because Yeah . Yeah . And for everybody, listen , we're gonna provide , provide the list. Think we have the list. We'll put it on the ethical note .

We're gonna provide the list.

Sorry, . That's

And the number one thing that helped us get the treatment that we wanted. And we're still fighting to get more pictures. A collage pictures of Kaylee before she got ill. Yes. 'cause you go into that doctor's office. Yes. Even if they're a doctor that works with developmental disabilities, all they see is what's in front of them. They need to know where you started and what you're fighting for . Mm-Hmm mm-Hmm .

Like, not everybody has access to that, or the articulation or the , um, or the, you know, like a lot of people are more reserved and they're not the outspoken kind. So it is hard and it is Mm-Hmm. , those are the parents also that need advocates as well and need support and mentors.

Yeah. But probably right through, you know, to adulthood. Mm-Hmm. . So the team that we have for Kaylee is a team that we had to create. Right? Yeah . So we have to do the work to keep them each informed. Yeah . Um , and do what we can. Even if it's a little phone call .

I mean, I send so many email messages and updates and I make logs, and I do all of that work to keep them so that they feel like they're part of this team, because that's the , that's what I need. It's not like, oh yeah, I want them to be a team. I need them to feel like a team. Mm-Hmm . . So they can work together to get, to get Kaylee . Well again.

Um, but our, but our family physician, you know, and hats off to her was , um, honest enough to say, okay, I'm a little outta my element here. So we started with, with a low dose antipsychotic. Right. Let's try to give her some relief. Um, and, and a low dose of Ativan at the time, which we were giving for as a sedative. Let's just try to Mm-Hmm . give her some calm in her life.

Um, it wasn't really until we began to see the dual diagnosis psychiatrist, who I, who again, I don't know , we're lucky. She has a son with Down syndrome. And the day she told me that in her office, like seriously, I was like, okay, now I'm gonna cry. Right? Yeah . I was like, this is perfect . Mm-Hmm . Meant to be .

Yes. Um, so she was able to give us guidance on, okay, what, you know, what are the medications we need? So antipsychotics right now are the number one thing in our life for treating kaleigh's symptoms because , um, we, we want at all costs to avoid a psych , another psychotic break. She's had at least two. I'm worried, like, can that sweet little brain of hers even handle another one?

And living with psychosis like you , you know , um, we, we have kept her on Ativan, but now it's used to treat or give her some relief , um, from catatonia. Mm-Hmm . . And that's something where like, seriously, I used to think, you know, your catatonic was like, you lift your arm up and it stays there. I had no idea really what being catatonic involved and the list is pretty long.

Um, and all of these things sort of meld together. 'cause you're like, is that the catatonia? Is you doing that because of this? Is that a delusion? Um, so anti-psychotics , um, we did have her, or do have her on an SNRI , um, again, that was before we started seeing the psychiatrist because we were just getting medication.

Although we consulted with the, the manager at the, at the , the mental health clinic, we were, we were walking a fine line and that psychosis was there. And we were like, okay, if we're still waiting, what else can we give her? So we put her on an SNRI, which actually now we're in the process of taking her off of that.

Um, so Antipsych , um, when we began to see, see then it's like the , the whole thing about underlying, cause we were again lucky in that kayleigh's blood work showed high Mm-Hmm . Strep antibodies, like her strep titers were like in the six hundreds. And I think normal is like 200. Yeah .

Right now, because of that, whatever your doctor's opinion is on pans or pandas, whatever , um, that , um, allowed us to get her on antibiotics, right? Yeah . There's no infection in her body, but obviously her , she was still producing antibodies. So I think it's just the inflammatory , um, you know , it's treating inflammation.

So we got, so antipsychotics, Ativan , um, antibiotics, those were the things we were, we were on initially. While we're still trying to figure out what treatment, like, we're not even , it's you're , yeah .

And, and, you know, and then in the meantime, you're , you're , you're , you know , you're, you're researching and trying to figure out treatments, which we've started. Mm-Hmm . . Mm-Hmm . .

Um , we've had one round of , um, IVIG immunoglobulin treatments and are, are waiting to discuss having, having more, and we have a referral for ECT, which is the thing that, you know, you , you , you , you get kind of scared when you hear about ECT mm-hmm . . Um, but it's proven highly effective, specifically for catatonia.

So we are, we're waiting to, to go to talk to the chief of psychiatry here in Thunder Bay to get the , the ball rolling on that Mm-Hmm . And those would be the main treatments.

So, because of course, you know, even the term anti-psychotic skin scare some parents and they're like, oh, I don't know if I want psychiatric medication. But if it's helping your child just be able to be, you know, at baseline and be able to function that it is something to consider Yes . Until you can really figure out what the root cause is and do some more of those treatments. Yeah. I mean,

We need them calm. Yeah. Right.

They're not perfect. Kaylee still has , um, what we, we've called, 'cause we don't know the name for it, like breakthrough psychosis almost daily. Mm-Hmm . , um, where she still hears voices or she still has sort of delusional thoughts. The difference now is , um, it's sort of malleable.

Like she can tell us when she's hearing voices, we've been able to work with her to help give her tools so that she knows, you know, when you hear the voices , um, you don't have to listen to them. You can tell us that you're hearing voices. If I need to give you an immediate release, Seroquel to kind of quiet them for a while .

Yeah. Um, we can talk her through, because she still has catatonia, so we can talk her through. She gets stuck so she gets physically stuck. Um, and she'll be like going up the stairs and you can see she's been in the same spot for like a minute or two. And we can say, are you stuck? And she'll say, yes.

So we can go up and physically help her move, but we're also giving her the tools to like, take a few deep breaths. Mm-Hmm. . Mm-Hmm . focus on what, you know, we're making it all up as we go often . Sounds like this is just, we're making it up. .

Um, it , it's so difficult because even the voices, you know, you're, you're, you're like, you're hearing voices , um, they're not real, but they by well , but she's hearing them so they are real. And you don't want her to not listen to her own voice, but how do you even explain that? Yeah, yeah. Right. So it's, it's, it's hard complicated. Yeah. It's hard and complicated. Yes. Yeah . Yeah . Yeah .

So she's at that point where you can, I don't know if rationalize is the correct term, but you were able to communicate and kind of get at her level and see what she needs, and she's able to communicate some of her needs and what she, how she's experiencing her world. Right. Yeah . So that's,

It had , it was after her first , um, round of IVIG, where sometimes there's a decline. And she got worse before she started to get better. Mm-Hmm. . And we didn't think we could even make that road trip. So , um, but you know, you work with your doctors and you talk to them every day and you tweak things and, and, you know, so, so there's hope.

Um, the best advice, and I got this wasn't my advice, this was from the group, was it's a marathon, not a sprint. Mm-Hmm . . Um , and I remind myself of that all the time, that you're not going to get it all done today or even this week. It's okay to take a day and say, I can't read another medical paper.

I can't, I just, I need to just check out , um, and get through today and I'll figure the rest out another day. Mm-Hmm . . Mm-Hmm. . Um, and, and it's the one time, and, and it's hard 'cause I know that not everybody has this sort of, this circle of friends around them, and we're a family who we just don't ask for help. Like what we are , like, we'll figure it out, but this time, oh my goodness.

Like they're , those first six months we've eat , we've eaten a lot of lasagna. That seems to be the , the food that people like to bring you . Very

Yeah. Um, so, so recognize that, like, recognize that this, this Yeah. That it, that it's hard. It's very difficult.

Um, and this is one of those areas that I, I am hopeful that we will continue to know more and more about , um, as stories like yours become more well known so people know that this is happening. Mm-Hmm . , I think it's very important. Absolutely. Mm-Hmm . . Um, Cindy , before we kind of end for today, are there any resources or anything that you found really helpful that you would like to share?

And we can include links or anything for our listeners?

Um, I can tell you that the plan is to have a public group page or public page, as opposed to a group where some of the files and publications from that group will be shared and made available so that people who aren't sure if it's regression, think maybe it is, or just curious, they'll have a place to, to get information. Okay. Yep . Great .

Um, you know, there , there's the Down Syndrome special interest group in the States. And, and Eileen, Dr. Quinn will probably have more resources that she can share , um, as to sort of where people can go for information. Mm-Hmm mm-Hmm. . Um, but our goal, like just, you know, those of us in that group are like, okay, you know, we're kind of in the , the start of this. Right. The consensus paper just came out.

Yeah . Things are just starting. Which, which is great. I mean Mm-Hmm . part. It , it's like, I love hate thing. It's like, it's very exciting and it's very interesting, God , timing . I wish it wasn't my child, but yes. That's where we're at, right? Yeah .

So we want to, the parents in that group, we want to do what we can to make sure that when somebody sits down at two in the morning and Googles , um, that there's a place where there's easy access, concise information. Mm-Hmm . to at least get, get them started. I would love to see, you know, we need , we need one of these special interest groups in Canada.

Like we need, I, I think that we need to do more in Canada. Mm-Hmm . , um, the medical community. Mm-Hmm . all around. Not just regression, but all around to do more for, for individuals , um, with Down Syndrome, because the only sort of clinics that I'm aware of are, again, they focus on pediatrics and they're within hospitals and Mm-Hmm.

, I'm like, why, why aren't we doing more to encourage doctors, for example, or medical students to specialize in Down syndrome? I don't, I mean, I'm, you know , I don't know everything, I'm not Googled everything, but I'm not even aware of any doctors in Canada who would say that they specialize in Down syndrome. Yeah . And I bet you there are some in the US and, and the uk. So I'm like, yeah, we can do better.

We can do more. Right . Yeah .

Um , well, we really wanna thank you so much for joining us today , um, and discussing, you know, it's, it's a hard, it's a hard conversation to have, but we know that it's gonna help so many of our families that are listening and so many, and hopefully the professionals that are listening out there will be galvanized and wanting to, to, to go into this area of research and really help advocate for our families.

So we really appreciate your time .

Dr. Santoro is a pediatric neurologist with special training in inflammatory and demyelinating disorders of the brain, spinal cord, and peripheral nervous system. His clinical research is in Down syndrome and the association between autoimmunity and the developmental , uh, and the development of vascular disease. Dr. Quinn , um, grew up outside of Detroit in a family of seven kids.

Her younger brother Danny, had down syndrome and had a big influence on her choice of careers. She attended the University of Michigan for undergraduate and medical school, then moved to the University of Rochester for her pediatric residency and fellowship in developmental and behavioral pediatrics. She has , um, been a developmental pediatrician. Oh , we love those.

Um, at the University of Toledo , uh, college of Medicine and Life Sciences for over 30 years. She has four wonderful daughters, the youngest of whom Sarah is 24 years old and has Down Syndrome. Um, welcome to the Poca podcast, Dr. Santoro and Dr. Quinn. I'm so, so excited to have you on.

And , uh, it was , uh, I can't say I was , uh, better than the Dalai Lama, but I , I think it was a pretty good talk at pretty close .

Um, but I , uh, a kind of crazy thing, I worked my way through college and , uh, med school with a variety of jobs, but for a couple summers I worked in a bakery where one of my jobs was, it was kind of an industrial bakery, so it was , uh, one of my jobs was to , uh, try and put the , uh, icing on cakes very fast as I came down the conveyor belt . So that was a , a very interesting job.

And , um, you have to learn under pressure under those situations, so Oh

So it's always that , uh, that ear , that early morning piece has just been important to me, for me, for family connections, for writing, for doing a lot of work. So, Mm-Hmm.

Which makes it convenient with , um, communicating with , uh, John, because we're on different , uh, uh, coasts and time zones, and , uh, uh, I know when I sit down at 11, he's usually still, he's still , uh, checking emails and things like that at 8:00 PM at night. So it's been convenient for that.

And our purpose in this episode is to reduce the isolation that families have when their loved one is experiencing regression. And beyond that, we're hoping to provide some hard to find information and resources and kind of make those a little bit more easily available so that families can feel informed about what's happening.

Um, if the topic of regression doesn't apply to you as a listener right now, and you're already stressed just listening this far, then I think you should give this episode a pass. Um, it's never our purpose to cause undue stress to families, so, Mm-Hmm . , use your judgment and if it's stressing you out, skip. Um, that being said, let's, let's start into it.

Um, can we start by talking about what is regression so that everyone's on the same page getting going. Um, Dr. Quinn, can you start us off with that? Sure.

Uh, in memory , uh, regression and behavior. Uh , mm-Hmm. . So there's a , a number of different areas you can have regression in , but it just , uh, refers to loss of a previously acquired skill level .

Whereas later on, where , you know, this is the regression we'll be focusing on today, there seems to be this regressive phenomenon in early teens. Um , mm-Hmm . in females. It seems to be right around the pub, pub puberty time in , uh, our male patients. It tends to be a little bit later where all of a sudden we're seeing, you know, that these patients are regressing.

And so the term autistic regression has been used in that population for a long time. But we know, you know, that autism does just doesn't suddenly develop in the teen years. And then other types of regression on the other age spectrum are more related to Alzheimer's disease. So all of us regress whether we want to, you know, believe it or not , uh, whether we have down syndrome or we don't.

Um, but I think that when we're really talking about regression, we're talking about this more subacute out of nowhere , um, kind of surprise type of phenomenon, but , Mm-Hmm . as we'll talk about later. A lot of it is, you know, is there another explanation for this regression? Mm-Hmm . ? Or is it something organic?

But I , I think the time to really be concerned is , uh, when there's a , uh, uh, a , uh, a substantial change and that , you know, it doesn't get better in a week or two. And in fact, you start, start losing more skills. Mm-Hmm . in my mind, that's when I would say as a parent, that , uh, we need to be, to be more concerned. Mm-Hmm .

But really starts to , uh, affect their daily life and interfere with their , uh, ability to do the things that they used to do.

But you , with regression as we're talking about it, you know, when something's off Mm-Hmm . It's those activities of daily living that just are mm-Hmm . Evaporating before you rise . Mm-Hmm. .

We're talking about differentiating an ASD type , um, regression from others.

Um , and I think that when we're looking at these temporal, you know, associations, is that there's this kind of slow decline, you know, over a period of time. There are some patients that can be a little bit faster, but I think the challenge with young children is that there's not a biomarker for autism.

And, you know, we can get an MRI and it's is usually negative , um, and we can do these psychometric testing, which says it indicates autism, but it could indicate many other things. And I think that this is something that we've always struggled with. But , um, I think that that timeframe is, is really helpful. Mm-Hmm . for deli delineating, both in terms of the age of onset Mm-Hmm .

And the time it takes to actually have that , uh, process occur. Mm-Hmm . . But, you know, Dr. Quinn can also, you know, go into this . She sees a lot more , uh, ASD than I do, certainly in my practice.

Uh , but it is , uh, really , uh, looking at , um, uh, so as, as John mentioned, it's would be very common to start developing , uh, autism symptoms when you're 10 or 12. It would really be in the younger age group. Now, we do know that , uh, uh, autism is diagnosed later in children with uti , with with Down Syndrome.

Yeah. But that's because it's just a more difficult, I always say that's one of the most difficult things that I do, is diagnose autism. Any a young child with Down syndrome. And I know that you've had , uh, speakers in the past , uh, talk about the dual diagnosis. Mm-Hmm. , uh, who , uh, did a wonderful job.

Um , but it's, it's difficult because we're looking for atypical development in the context of already atypical development. Mm-Hmm . . So it could be a little bit trickier to , uh, sort out what is , uh, uh, uh, typical behavior for many young children with Down Syndrome, for instance. We know certainly , uh, you know, communication can be delayed.

Uh, uh, verbal words , uh, can be, can be , uh, more difficult for children with Down syndrome to start , uh, uh, using. But , uh, but that intent to communicate is usually still there.

So, young children with Down Syndrome , um, uh, uh, used , they may not have the words yet, but they, they use everything , uh, at their disposal to pull people in and get their attention, and to do that back and forth communication. Um, Mm-Hmm .

, uh, and I , uh, they use , uh, you know , facial expressions and gestures and , uh, smiling and , uh, eye contact and , uh, uh, but , uh, uh, so, so there is a , a , a difference when you're, when you're looking at it. And also young children with , uh, down Syndrome often will have some repetitive behaviors. Um , Mm-Hmm. .

Uh , but , uh, but I think it's that what I look for in diagnose and autism is that social piece. Uh , yeah . That is usually , uh, uh, though they might have delays in other area , their social emotional connection is, is spot on. And in fact, one of the most endearing qualities I think, of people with Down Syndrome is they, they tend to be able to, and other families will bear this out.

They, I I call it a special magic of Down Syndrome, where , um, they tend to attract people to them. I , I , mm-Hmm. know , it's , it's their, it's their personality and their, that social emotional connection. So , um, so yes, it is , uh, it is a difficult diagnosis to make, but , um, uh, but I, but I think as , as we've been talking, I think the age is , is a key , uh, thing to look at there. Right .

This , uh, even though, so sometimes the diagnosis isn't made till later because people have trouble separating out what's Down syndrome and what is autism. Uh , but if you ask parents, oftentimes the, the , um, uh, the symptoms have been there. They just weren't recognized for what, for what they are . Right ?

So, I do have some older students who didn't get a diagnosis when they were little , um, despite clearly having a dual , um, diagnosis on board , um, just because whoever they worked with wasn't aware that that was even a possibility. And that's really changing, certainly with the AEP guidelines and some of those Right . More

So if you're seeing a regression or a skill loss in this age group, it typically means something different. So let's, let's get into it. Um, I don't know which one of you would like to start. Well,

Um, I , uh, uh, and that can cause more milder types of regression. So I think it's important if people start to see a change in their child's behavior or in their , uh, ability to do things, is to make sure that they are up to date on all the screening recommendations, or , and that they have a physician that is aware of what other things that might be happening. So we Mm-Hmm .

We know that things like hypothyroidism and sleep apnea and , um, you know , uh, Atlanta axial instability and , uh, all sorts of , uh, um, medical conditions that people with Down Syndrome are , uh, predisposed to , uh, can cause changes. Sometimes there are people with Down Syndrome , uh, even though they're verbal, they have difficulty expressing what's going on.

Uh, and they might , uh, have difficulty locating sources of pain or discomfort Mm-Hmm . . And they , uh, they, instead of talking about it and telling people about it, you'll notice a change in their behavior or their , uh, or their skill level.

So I, I think , uh, uh, it's important to keep that in mind also, that sometimes when you start to see , um, uh, a change in your child to make sure that, you know, as he had a , um, a screen for the , the thyroid , is he having symptoms of say, celiac disease? Mm-Hmm . , uh, is he up to date on his vision and hearing screens? Mm-Hmm . .

And to make sure that some of those aren't , uh, uh, feeding into this type of change in behavior.

Um, and it can be even, you know, what we would maybe consider to be less grave, things like constipation that can cause a real behavioral change. So medical workup first, and then if that gives you nothing , um, and those, all those things are clear, then we start looking at other things. Um, Dr. Stor , do you wanna start us off on that?

A lot of that is borrowed from existing literature on things that we know that can mimic this. Right? Mm-Hmm. . Um, so once , you know, we've actually ruled all of that out. The, the features , um, that we look for are kind of , uh, put into three different categories with any diagnostic criteria. We always say, you have to exclude all the other things. Right? Yeah .

So that's, that's kind of already what Dr. was mentioning. The second thing that seems very unique about DSRD is the symptom onset tends to be pretty quick. Mm-Hmm. . So we , we go from high function to, oh, boy, what's going on? Why can't you toilet independently? Why can't you, you know, do all of these other tasks that you've been able to do generally over a few weeks?

Uh, in our new consensus criteria that was just released last month, we kind of used a 12 week , um, guideline , uh, to say that this regression should be occurring relatively rapidly. It's not that slow decline that we see in Alzheimer's disease or an autism spectrum disorder. And then really , there's eight core features , um, that we look at.

Uh, the first is an, is an altered mental status or a behavioral dysregulation. So that can be things like confusion. It could be inappropriate laughter. Um, sometimes it can be changes in eating behavior. So all everything from anorexia and not wanting to eat and losing quite a bit of weight , uh, to hyperphasia, just nonstop eating. Mom and dad have to lock the fridge type of thing.

Um, the other thing that we see is a cognitive decline. That can be things like apathy or just not willing to engage , um, with family members, with loved ones. A lot of patients will just kind of sit in their room and not leave or not do anything. Mm-Hmm. , um, in the early stages of the condition.

And then often there can be either a memory impairment or more of this slowed processing speed, where you'll ask a question and you can tell the gears are turning, but there's really just not a response ultimately. And then from there, you know, we also see that that, you know, as Dr. Quinn was mentioning, that social piece . So there's social withdrawal, there's inability to perform the activities of daily living.

There's a rigidity around routine. So leaving the room is, you know, will provoke tantrum, aggression, things of that nature, decrease eye contact. And then again, with this coinciding with this app , but they just, they're not enjoying things. It almost , we've had many families say that they're just kind of cruising through the motions , um, during the day.

Uh , which is hard because so many of our young persons with Down syndrome are very animated, you know, loving life individual. So this is often the most dramatic change that brings people in for care. Mm-Hmm . Obviously if there's any focal neurologic issues, so that would be weakness, sensory changes, or a seizure, you gotta , you gotta take the express lane to get evaluated.

And then the other kind of three components that we see quite a bit are insomnia and circadian rhythm , uh, disruption, insomnia, interestingly, is often very early in the, in the disease process, people will just stop sleeping , uh, or be two hours , um, at night. Then we'll start to see some of the language deficits , um, that can be whispered speech at first, then a decreased verbal output.

And then, you know , in many situations, it will go on to full mutism and not being able to communicate at all. Yeah . And interestingly, that crosses domain. So that's both your expressive language and your ability to point and gesture or sign , uh, for many of our patients that don't have as advanced , um, expressive language function. Mm-Hmm. .

And then I think that the, the two things that often are, you know , for me, in , in neuroimmunology we see a lot of psychiatric symptoms. So we'll see, anxiety, depression, a lot of OCD. Yeah . And not OCD, you've gotta touch the doorknob 50 times before you leave the house, or that hyper cleanliness. But it's really about rigidity and having thoughts that are just trapped in this circuit.

And often there's this fixation. Sometimes it'll be on a Disney movie or a particular show that they like, but it's almost like they're, because it's such a repetitive loop, they're almost in that other world, as opposed to in the world that they're actively surrounded in. Yes. And then the last thing that we see is , uh, the presence of a movement disorder.

Often this will be catatonia about three quarters of our patients. Um, and then we'll also see bradykinesia or slowed movement. It almost looks like somebody has Parkinsonism. Yeah . Uh , well , they'll just kind of shuffle along the hallway floor. We'll see freezing behavior. So you'll ask somebody to take a turn, and all of a sudden they kind of clam up and they can't actually initiate that.

Yeah. Um, so, you know, that's a , a lot of symptoms, but if you're seeing really more than two or three of them , uh, that's an indication that we gotta get, you know, your your child in for evaluation.

The child that you knew , um, as I say, who was the light of my life and made me laugh out loud every day is just totally different. I mean, it was like, I, I even say it was like Sarah died and I didn't have time to mourn her because I had this belligerent stranger in my midst that I had to deal with . Mm-Hmm. . Um , so it's, it's really a very , uh, catastrophic , uh, thing to happen to families.

Very, very difficult.

So they may not be able to, you know, they're already not independent in toileting feeding how, and if they're nonverbal, which happens all , um, as well, how do we measure the, the cognitive decline in that situation?

I think one of the keys with our individuals who may not be independent of some of those routines is to really get as nitty gritty as we can Mm-Hmm . So it may be that, yeah, your, your child may not have , uh, been able to toilet independently, but could indicate that they wanted to do that. Mm-Hmm . . And so if that's gone, that may be the piece that we have to substitute here.

But I think that this is a challenge, not just in Down syndrome, but really any disorder that has intellectual disability as part of it Yeah . Is that people with lower , uh, functional status don't often get the diagnoses that they need. There is , you know, as we were, as Marla was talking about, pain in individuals who don't have expressive language is really hard to figure out. Yeah .

And this is where those nuances, and, you know, I'll say it again, that the mom and dad radar of knowing this is not my child, is something that you really need to communicate to your physician because, you know, looking in a room, and I think that, you know, we've heard this from hundreds of patients across the country.

My doctors just said that this was normal for persons with Down syndrome, that there really wasn't a regression. And if the parents are saying, no, look, my child is different, and here's why you going in and actually being prepared to explain what that difference is, even if it may seem minor to somebody who's saying, well , okay, well, they weren't able to do that anyway. Yeah .

These are really important factors and, and take a lot of that advocacy component for families to really push , um, to kind of get that , uh, evaluation done. Absolutely .

Um , because I think that can be, it , it's easy for some healthcare providers if they have a certain , um, a stereotyped idea of what a person with Down syndrome is like, that they may see your child and just think, well , what are you, or , you know , what, are you concerned about this ? Why are , yeah . So it's very important to take the time and paint that picture of what your child was like before.

Mm-Hmm . And then what, what you're seeing now Mm-Hmm . And how this isn't usual behavior for them . Mm-Hmm . . Uh , and I also say for families to make sure that you tell the healthcare provider what impact this is having on you and , and on the whole family. Um, just so it's not so easy for them to be dismissive, but , uh, Mm-Hmm.

, oh , I think , uh, uh, uh, videos are just , uh, that's , uh, incredibly important if you, if you have access to those Mm-Hmm . of what their functioning was like , uh, uh, pre regression and , and Mm-Hmm . , uh, you know , what they're seeing in the office now,

We've heard it from thousands of other physicians, providers, everybody. Mm-Hmm . . When you bring in another person and a sibling who doesn't have kind of that re repertoire to come in with the, the binder full of issues, that is really striking when a sibling says, I don't know what's going on with my sister, but she can't do any of these things. And it's, and it's really, that's the point for me.

Or when we first started evaluating these, you know, individuals with regression, that was really powerful. Mm-Hmm . , of course, the videos, the photos, you know, as all of the other things that we were talking about were really helpful, but siblings telling me that their, you know, brother or sister was a ghost. Yeah . That they were just in the house and they couldn't do anything anymore.

That was like, oh my God , something is really, really wrong here. Mm-Hmm.

So then you're really getting a bigger picture of, okay, what exactly is going on? And how much have they really lost in terms of their skill level? Mm-Hmm. . Um , so yeah. That, that's such a , a great suggestion. Mm-Hmm. . Um, before we kind of get into the actual, like, process of diagnosing , um, down syndrome regression disorder, I just wanted to talk a little bit about the prevail .

Um, one of my, the first question I wanted to ask was, you talked a little bit about early childhood regression due to ASD If somebody has a diagnosis of autism, does it make it more likely that DSRD could happen? Are there, is there any connection or is it just coincide?

So now that we've kind of come up with formal terminology that we've had developed , uh, you know, an assessment tool to help physicians kind of go through the process of working this up, I think we're finding people are coming, you know, coming out of the woodwork where they've had the symptoms for a long time and they just didn't know what it was.

Yeah. Very similar to kind of what happened with autism in the early two thousands. Once we finally had a name for that condition, the rates of autism went up, so to speak. Mm-Hmm . . But in reality, we , how did we hear

Uh , and again, it's the idea that it's, it's difficult to recognize , uh, atypical, something atypical happened in someone who already has atypical development. Right . But I do worry that , uh, many times in people with a dual diagnosis, or in people who , uh, are , uh, less , uh, capable , uh, at , at a baseline that this , uh, that this diagnosis is being , uh, is being missed.

I mean, the people who have children who are quite verbal and functioning well, and , uh, independent and have some academic skills when they suffer this type of , uh, regression , uh, uh, you know, all, all the alarms go off. Yeah. But I, I'm very concerned about the people that , uh, uh, may not have those skills at a baseline, but still suffer quite a bit from this, from this disorder, but are just dismissed.

Yeah .

to go first , um, because it's hard to do the full workup right there. Yeah. Um, yeah. I

We're like, oh, had this happened to this person, now that we know about down syndrome regression disorder. Right. Mm-Hmm . . So it is like that hindsight kind of like, okay, now we're gonna have to go back and see if this is in fact, you know, what's happening , um, with our guys over here.

Um, just kind of just to stay on the surveillance piece for a little bit longer, I was also wondering , um, from your experience, can previous autoimmunity 'cause now the radar, look , our radars are up here at TSR , we're trying to inform ourselves, we're looking , we're looking everywhere.

Um, but obviously not panicking and making, you know, being systematic about this, but can previous autoimmunity illnesses be an indicator because, you know, alopecia celiac's disease, things like that.

Um , so there is something probably quite specific about Down syndrome, but I think it's still early to say, but the, the rates were statistically significant. And I think that, you know, our overarching hypothesis is that there is so many different types of autoimmune disease in persons with Down syndrome that there has to be a common link.

And I think that, you know, certainly we can talk about that with some of our therapeutic interventions a little bit later on, but it , it, you know, we have to apply Occam's razor here is like, there has to be a central explanation for why this particular group of patients is so predisposed to autoimmunity. Mm-Hmm .

And it wouldn't necessarily be modified by being male or female. Yeah . So we've tested a few patients for hormonal dysregulation. All of it's kind of come back negative so far, but still unclear, but no significant predilection by sex .

Let's make sure it's not celiac's disease, things of that nature. We also recommend an MRI of the brain, specifically a three TT as in Tesla , MRI , which is kind of the higher power of magnet. We found that about 20% of individuals will have abnormal MRIs. And in those individuals, they are much more likely to respond to immunotherapy later on. Interesting.

But when we get MRIs, as we saw with a patient we took care of a few weeks ago, she was actually having strokes. And it's not related to regression. That was actually the cause of that regression that the patient was experiencing. So it's, that's a really critical component. Mm-Hmm. , we never like sedating patients for anything, but, you know, this is a really like staple of something we need to do. Yeah .

And then finally we're recommending , uh, an EEG, which is non-invasive. We don't use the EEG to necessarily detect seizure activity, but we're looking to see if there's slowing on the EEG. And that can be, you know, helpful in patients who have had a prior normal EEG to compare Mm-Hmm . .

And if this is the first time somebody's getting it, it's not gonna be as helpful because EEGs can be abnormal in up to 25 to 30% of persons with down syndrome regardless. Mm-Hmm . . And then the last test that we, we are recommending is something called a lumbar puncture. Uh, the other term for that is a spinal tap. Mm-Hmm .

, uh, it's not a fun procedure to do because we do have to typically put people to sleep to have it done, but it's very, very safe. And this is the most helpful test for somebody like me in neuroimmunology, because your brain is protected from your body by this blood-brain barrier. It's why every time you get sick with a virus, you don't get meningitis. Right. We wanna keep your brain kind of away from everybody else.

So the lumbar puncture actually allows us to get past that barrier and look at the fluid that's surrounding the brain to tell us if there is inflammation or not. Mm-Hmm . And , and in patients who do have those abnormalities, they're essentially universally responsive to immune treatments. Mm-Hmm. .

But at the same time, we have to bypass that design to get that high quality information.

Now I think historically, you know, certainly when we first started evaluating patients with this, some would come in with a decade plus of symptoms. And I think that we, you know, we did the workup just to be thorough, but the yield was very low. Mm-Hmm . . So really time is a consideration both for confirming and ruling out other etiologies, but also for starting on treatment. Right? Mm-Hmm .

, this is a condition that has had a variety of different therapies, you know, thrown at it, and most of them with some effect. So we wanna try to be as quick and timely as possible. Um, and another thing I, you know, advocate families to do is not wait a year to complete the workup. I mean, this is something that can be done in a few weeks, if not a few days , uh, at most major academic medical centers.

Mm-Hmm .

So I've had families that say, well, my doctor wants to rule out obstructive sleep apnea, but I can't get a sleep study for three or four months for a year . I mean, if you if you , uh, things can be done concurrently, but I wouldn't wait , uh, too long to look at the , uh, at the inflammatory markers.

So , um, psychotropics along the line of SSRI compounds, and these are like antidepressants. Um, like Prozac or fluvoxamine is another common one that we utilize. Those have tended to help with the , uh, slowness , uh, that some patients experience, they can help a little bit with catatonia. And what we find is actually they help with language quite a bit. And , uh, the language thing is very unique.

Um , because SSRIs typically take a couple weeks to work. And what we find is that often within a week or two of starting them, our patients are having some improvement with language that's very similar to the adult stroke literature, where when we start antidepressants in those patients just to help them engage with therapy services, yeah . Something changes in the brain and language will actually be stimulated.

And it's exactly what we're seeing in our regression patients. Obviously, not that they're having a stroke, but there's something about the neural recovery that seems to be different in the response to those compounds For our patients that have , um, sleep issues or are having aggression or psychosis. Anti-psychotics , uh, have been used to be frank, they're not my favorite thing.

Uh, they have a lot of side effects, a lot of , um, sedation effects as well. And I don't think that they're particularly helpful, but need to be, you know, augmented for, you know, the exact type of symptoms that are coming in.

We've had a, a variety of patients get , uh, benzodiazepines like lorazepam that's helpful for the treatment of catatonia, which again is present about three quarters of our patients and works really well , um, for that. Uh, I do find that the lower doses right, we always wanna start low and slowly slow creep up higher high. Yeah . Um, you know, at the lower doses it typically doesn't do a lot.

The , the magic number seems to be around one to two milligrams three times a day, obviously, depending on the weight of the patient. Mm-Hmm . and everything. But you , you know, you do have to push it a little bit, which is, can be uncomfortable for many doctors. Um, and then the last two are really ECT or electroconvulsive therapy has been used quite a bit , um, and immunotherapy.

And that's for us has been IBIG or intravenous immunoglobulin and a variety of other immunotherapeutics, if we get a partial effect with that Mm-Hmm . But it's, it's very broad right now. And the frustrating thing is there's not a real order with which.

Um , so it's, it's, it's a little all over the place, but, you know, eventually we find something, you know, that works for the patient and being on multiple different therapies at the same time is also something that happens quite a bit.

So even though IVIG is an immune treatment, and we normally think of immune treatments as suppressive of the immune system. Yeah . This is actually a functional immune boost. And so our patients who get this, it works by a variety of different mechanisms. It helps take out pathologic antibodies if they are present. And we don't know if this is an antibody driven disease or not. It helps with t-cell regulation.

So the T-cells are the ones where if somebody sneezes on your face, they run out and protect your body. Um, those, the protective t-cells actually go up and then there's about 50 other downstream effects of the therapy. It's very effective, but we don't know exactly how it's working.

And I think that that's something where as we're trying to investigate these biomarkers as fast as we can, we wanna find what that, again, that master switch is that master problem. Uh , so it can be more targeted with the therapies.

So I don't think we know, but I think that, you know, I I always like to include a word of caution about ECT, you know , we're, we're shocking the temporal lobes in a patient population that's already predisposed to the development of Alzheimer's disease. So what my biggest concern is as a clinician is that we're robbing Peter to pay Paul Mm-Hmm .

that we're getting some therapeutic benefit, but we may have to pay for it downstream. Mm-Hmm. .

But, you know, we're, we're up to having about a hundred patients on IVIG right now, and we don't even know how long to keep patients on it. Mm-Hmm . Um , you know, we're, we're still in that stage of , uh, infancy when it comes to understanding and coming up with long-term treatment plans.

Now, you know, we're about to hopefully get our data together to publish , um, our duration study where we weaned off patients at about a year on treatment. And we found that 50% we can get off of IBIG and the gains are maintained and the other 50% we can't Mm-Hmm .

and that 50% that we can't, those are the , those are those same patients that have the MRI abnormalities, the lumbar puncture abnormalities, the personal history of autoimmune disease. So we're kind of starting to figure out who may be higher risk versus not for needing long-term treatment, but we're still not there. And that lack of the, the biomarker is really the one that we just, we need to find as fast as we can.

Because of course, I'm sure our families that are listening, they just want to know if their , if their kid is gonna come back to the way that they were before. So I , I'm sure you'll like, it's a very hard question to ask. 'cause obviously you said it's, it's an infancy. But what are your thoughts on the recovery and what could be expected?

Um, you know, I , I think families are very hesitant to ever say a hundred percent. 'cause I think that that signals that we should, you know , back off the accelerator a little bit. Um, but we get many patients close. So I'd say, you know, our, our median is probably about 60 to 75% return to baseline.

And that's when we add on the symptomatic treatments to see if we can kind of just push people a little bit closer to those prior functional statuses.

Mm-Hmm . . But , uh, I've generally found that that has been a particularly responsive population.

So there's like a , this situational environmental context that's kind of , um, what are both of your thoughts on , um, the impact that something like a pandemic can have , um, in this, in the case of, of regression?

And , uh, so I think that , um, could start a a , a type of , uh, stress on them , uh, that might , um, might , uh, kick off the sort of , uh, aggression Mm-Hmm.

So many patients, for instance, who have multiple sclerosis, their first attack will be preceded by some life stressor. Mm-Hmm . . And it's not that the life stressor is causing their multiple sclerosis, it's giving their body that fine final push off the cliff to actually develop the clinical symptoms.

It's something I've wondered a lot with, you know, our regression patients is how do you possibly tease out, you know, what is psychologic psychiatric and then neurologic. And we've done our best with the existing tests that we have, but ultimately we we're looking at that picture after we get all the testing done, we're looking at the pattern.

There's not that one test that says, you know, this is the one and this is why we have to treat them. So some of it, you know, is likely that we will overtreat , um, and that if the symptoms are getting better and we're not really doing anything, as we've seen in some patients with progression , um, historically and actively, is that there are some patients that just get better on their own.

And it's unclear, again, if this is just a , a one-time monophasic relapse or, you know, non relapsing condition that is immune driven , or if it really was just depression that was transient. Yeah .

And, and that's the thing is, you know, I think the largest problem that we're encountering right now is when that patient shows up to clinic, how do we determine who's gonna get the full Monty workup and who are we gonna watch and wait. And I think I'll just use this as a , uh, you know, general statement. I think I'm pretty smart.

I'll give myself as many pats on the back as I can, but I am so wrong when I think, and I, and I use little language in my note to indicate exactly what I think we're gonna find. We do the lumbar puncture studies and I'm sitting there like, what, how is this patient possibly pan positive for all of these different abnormalities? And then we treat them and they get better. Yeah .

Whereas I'm walking into that thing, like, the older brother just moved away and he's getting a divorce. Like, of course this is gonna be just depression or, you know, acute stress reaction. And I , I , I'm probably 50 50 at best in terms of determining who upfront is gonna have an abnormality versus not.

And I think that we really need to think about that and not bias it by kind of what we believe is we believe as the physician or the provider is going on with the patient.

So , um, you know, that's why we say, you know, if a patient presents with a change in behavior, then get that celiac screen because they may not be able to tell you my belly hurts and , uh, that sort of thing. So , um, right . I think the situation is the same here. It's hard to tell upfront , uh, what you're gonna find when you do do the testing. Mm-Hmm.

Again, it's genetic diseases, intellectual disability, you know , not otherwise specified, but like, if these tests are gonna help potentially answer a question, we we have to get, get them, we have to get them quickly. And I think that that's the, the scariest thing for me is, you know, it's always the , the hypothesis that I run by in the back of my head is what if I'm wrong?

What's the impact if I think it's just depression and we're just, you know, see it , see in six months versus we are missing something potentially autoimmune or potentially a stroke. That was the scariest one for me. Even though this patient showed up and we caught it and excellent outcome is expected. What if we just said that it was depression and we sent them out the door, that patient had no focal findings.

We did a, a thorough neurologic exam and found nothing. And that's the scariest thing for me, is that if we're able to find something early, whether it's stroke, regression, celiac's disease, all of these things have better outcomes. If you find it early and treat it.

But I think most families, even if there was a one in 10 or maybe even a one in 100 chance of finding some information that will direct treatment to get their child back, I think that they're , that they're all in the difficulty is convincing healthcare providers of that.

No , that , I just think the consequences of not catching this early, this isn't like being told , um, you know, your child has celiac disease or even being told as scary it is that your child has a congenital heart defect that needs surgery. This is just a devastating , uh, diagnosis for families.

And, you know, I have families that say, you know, they, their life is divided into, you know, the pre regression and post regression . It was that significant of an event for them . Yeah . So it's , um, I think, you know, parents , uh, uh, it's important for them to advocate for their child and to find healthcare professionals. I don't listen to them .

Like a psychiatrist will look at things from a psychiatric perspective. I will look at things from a neurologic exp perspective. Dr. Quinn will look at things from a developmental and behavioral perspective, right? But really centers that can get everybody at the same table or get multiple evaluations in short order. That's really what is most important.

And I think that that's ultimately why we've been able to make progress , um, with this condition, is really collaborating with our psychiatrists, with our pediatrician networks, with our, you know, immunologists even Mm-Hmm . , um, to get that right workup. And , uh, it's, it's a complex thing. I've had to prescribe more psychiatric medications than I'm comfortable with, but we don't have outpatient psychiatry, right?

So I , I think that it's not built for any one type of doctor, but really using that pediatrician almost, or pediatrician or the internal medicine doctor as the quarterback for the team, and then bringing everybody to the table. Mm-Hmm.

But what you have to do is be open to what the families are telling you. So I, you know, to be able to say, give me , gimme the information you have. Uh , you know, did you get this from some questionable website? Or did you get this from a trusted source?

Um, and , uh, but I , I really encourage , uh, our learners to get comfortable with the fact that there are gonna be families that know, or , and to not take that as a , uh, as an insult or that these are pushy parents, but really listen to the family and evaluate the information they have and, and evaluate in the context of what's going on with their child. Mm-Hmm.

, and it's a , I realize I'm putting parents in kind of uncomfortable situations where they have to be the person that finds the information and advocates. But at , at this point with where we are with Down syndrome regression, that's kind of where we are . Mm-Hmm . It's many families have , uh, uh, been , uh, happened upon some information and been able to take that to their doctor.

And they are the ones that are driving the , um, the , the a the advocacy for their, for their child. Mm-Hmm.

And it's not fair right now, but we're getting there. We've made tremendous strides , um, in the last two years on this. And I've talked to physicians from as far out as Hawaii and as far east as Spain, I think at this point. So we've, we've really expanded the knowledge about this, but it's very grassroots and it's, it's gonna take a lot of families pushing.

It's gonna take a lot of physician education, provider education, but we're moving in the right direction.

It's not always DSRD, but when we see things that look off, we have to, it's our responsibility to do something about it. Um, I would, I think what we'll do is we'll put your open access , um, your expert consensus on our webpage, because that gives a really nice rundown of the testing and the tiered testing approach that you guys have agreed upon.

And we'll put your article, which I think is from like maybe April or May on there too. Um, are there any other recommended resources that you would like families to have access to that we should put on our page?

And if, and if anyone needs a copy of it, they can also email our research line, which is DS research@chla.usc.edu.

So , um, uh, so as well as being on the diss , uh, uh, mm-hmm . Website , uh, I , uh, will also mention , um, that I have a , uh, Facebook group , uh, for , uh, families who are dealing with regression. Um, it's , uh, right now we have this group is , uh, a private group for only families that , uh, have a loved one with , uh, down syndrome and regression.

We do realize the need to develop a public page for people who want more information, but I do feel that they , if people, you know, look into Down Syndrome regression, you will find a number of resources. But , mm-Hmm .

, uh, this page has been, I think, very helpful for many families , uh, mentioned at the beginning about the, the , uh, you know, the isolation that many families , uh, feel , um, because , uh, this isn't , uh, that common in people with Down Syndrome, and it is such a devastating condition that I think it's been very helpful, both from a moral support aspect for families to be able to talk to each other and , uh,

what they're going through, but also from an information standpoint. Mm-Hmm . as far as , uh, discussing what resources and which healthcare professionals , uh, were helpful. Mm-Hmm.

We wanna spread the word about , uh, DSRD and , uh, information as much as possible. So I'm certainly open to any , uh, medical professors who would like to join .

And it's extremely isolating not to mention that the person that you're now with your own child is foreign to you. Um , and you don't, you can't relate. Um, so I think it's really, it is devastating , um, even to not be in it, but to watch that happen to a family is horrible. Um, so this kind of group goes a long way. So

And , um, so I spent a lot of time on the phone with families, and then I thought, I don't wanna do this, but I'm gonna get, I'm gonna start this , uh, this group for families. And it started a little bit slow, and, you know, we probably had five families, and then 10, and then 20, and then it's just grown exponentially , um, recently. But it wa it wasn't interesting.

I knew so little about Facebook that I kind of randomly, one day, about two years ago, I said, what's this little icon, this blue circle with a little wavy line on it? And I, and I, and I pressed it. It was the first thing that came up was this , uh, Dr .

Santoro reaching out and saying, , you know , I'm a neurologist and I'm kind of interested in this, and , uh, do you think I could , uh, post my information on the page and, and , uh, uh, uh, uh, and , and answer people's questions? And I'm like, are you ? I need to talk to you immediately. . But I'll say something that I have not told John before, is we set up a time to speak a little later.

And then, and I'm like, I'm gonna check this guy out, , and who is this? Dr . Santo? I'm very protective of the families of the group. And I'm like, I gotta make sure this guy is legit for real, legit. So I Google him, and he did not put in his biography at the beginning, but I googled Jonathan Santoro, and I get, well , you know, I think he's gonna be okay.

Tulane Medical School, Stanford for his neurology residency, Harvard for his neuroimmunology fellowship. And I, and I, and now he's at Children's Hospital la . I'm like, okay, I'm gonna let him in the bed . , it's close. And , and he has been a , a fantastic resource for families. And I will say he , I know he spends , uh, a lot of time on the phone , um, with other , uh, providers throughout the country.

I mean, many families have gone , uh, to LA to meet with him and have their child , uh, evaluated. But , um, mm-hmm . , you know, he's been wonderful as far as working with other healthcare professionals, so people who don't have the means to come see him. Mm-Hmm . , uh, can get , uh, information about the kind of workup that needs to be done and get treatment locally. So, Mm-Hmm .

, I have to put in a plug for John. I tell you , he's been , uh, you're

But it's, it's, so, I I'm hoping that families find a , some ray of hope in knowing that there are people on their side, there are people working to figure this out, and there are, you know, advancements being made. Um, and that it is now on the map, because I think that's when, it's, when you're, you feel more isolated when be

I , I had one healthcare professional when I was on my journey with Sarah, just say, well, can't you just live with this? I mean, she was a little approved, but, and I just thought, well, wait a minute. You would never say that to me about my other daughters who have didn't have a cognitive disability. It's like, no, I can't just live with this because she's not happy.

And, and , uh, you know, so I , I continued on the journey seeking answers. Uh, and , uh, um, and I think that's important for, for, for families to know that you don't have to listen to the professionals that may , they may be telling you to , to , to give up and accept things, but on the other hand, also know that this is , uh, a marathon, not a sprint.

So you really need to take care of yourself, and you need to , uh, rely on other people.

If they offer help and you need to, when you've advocated and advocated and you need a breather, then you , you gotta take a break because, you know, you're the most important thing when a, when a plane , uh, encounters difficulties in the oxygen mask dropdown, you have to put the, the , the oxygen mask on yourself first, because if you're Mm-Hmm .

, if you're burned out, you're not gonna be able to help your child. So , um, you , you gotta pace yourself. But , uh, but always have hope and, and, and, and , uh, uh, never be afraid to , uh, ask questions and, and , uh, seek more answers. Mm-Hmm . ,