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Autism: What We "Know," A Grand Rounds Talk by Dr. Mario Fierro · Pediatrics Now: Cases Updates and Discussions for the Busy Pediatric Practitioner

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Today on Pediatrics Now, Dr. Mario Fierro, who is board certified in developmental
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and behavioral pediatrics.
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So we're trying to set the stage. I think the older physicians in the room can
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remember the old criteria of autism,
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spectrum disorders being autism on one particular side, and then the high-functioning
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ones were described as Asperger's, and kind of the individuals in the middle
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were pervasive developmental disorder.
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And it's primarily used to let people know the differences in some individuals
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with socialization, communication, and atypical behaviors.
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I mean, autism was first described in the 1940s. But because of the increase in prevalence,
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the psychiatric association, when they did the DSM-5, made pretty broad changes,
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which was like they got rid of pervasive developmental disorder and Asperger's.
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So anybody diagnosed before 2013 was considered can still be grandfathered in
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and be called Asperger's or PDD.
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But now everything is an autism spectrum disorder.
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And level three being the more affected, level one being the mildest affected.
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And what they ended up doing is they combined socialization and communication
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into one criteria platform and then repetitive or stereotypic behaviors because
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they used to call them atypical behaviors.
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One thing that I want to just take a step back and say is, I know that the title
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of this presentation is what we know.
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Well, unfortunately, spoiler alert, we don't know what causes autism.
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So if you can click off now, I'm sorry.
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But what I want to talk about now is that I'm trying to demystify the diagnosis
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of autism moving forward.
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Because regardless if you're in primary care or in specialty care,
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you're going to come across these individuals just because of the sheer frequency
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of the diagnosis more and more.
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One of the things that I want to remember about this particular slide is we
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didn't get the best guidance in describing what's a level one,
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level two, and level three.
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It talks about the amount of help you need for like daily living skills,
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where level three being very substantial.
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Level two being substantial help and level one
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being moderate help or some help for daily
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living skills the hard part is it helps us a lot better
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when the individuals are teenagers and going into adulthood as far as figuring
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out maybe the perfect placement for them with their adaptive skills can you
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hear me i heard somebody talk but what ends up happening is that when they're
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sent to us and they're very young if i overlay the age of the child so if i'm
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seeing a two-year-old well guess what?
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Even a neurotypical two-year-old needs help because they can't always get dressed
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by themselves or make themselves breakfast or that kind of stuff.
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So I always like to tell parents, yes, I have to give them a level,
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but it can change as the child continues to improve with their behaviors and
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their communication skills. For a second.
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So, once again, the reason I'm going over the diagnostic criteria in detail
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is just to try to demystify it and let you guys know that it's okay.
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There's nothing magic about being a developmental pediatrician that we diagnose
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autism. We don't have, like, a crystal ball on the back or, like,
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you know, they have our hands on them and we know if they're autistic or not.
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What we try to do is, with the criteria, seeing if an individual has deficits
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in these three areas because it's a two-part diagnosis. this.
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It's the communication issue, which is socialization, reciprocity,
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nonverbal communication skills and relationships.
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And then the second part is more of that atypical behaviors.
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So when we talk about having to have some issues in one of these three areas,
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it can be as simple as social reciprocity.
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You always have to have the overlay of knowing what the age of the child is
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because a baby won't have very good conversational skills.
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So it's very important to treat each one of them as what is expected for the
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developmental age in a typical and then atypical.
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And also know that it's okay to have differences, but it's when they cause difficulties
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in continued development and interaction with peers, with the parents,
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with the outside community, that's when we start thinking about,
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well, gosh, this child may or may not be on the spectrum.
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So officially, according to the DSM-5, you have to have an issue with these three areas.
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So when we talk about social and emotional reciprocity, one of the easiest ways
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to know is what we call joint attention.
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Joint attention is, can I get a child or an individual to pay attention to what
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I want to pay attention to for a short period of time?
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If we're able to do that, then at least we have a connection,
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even if it's just for a few seconds.
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Because if I don't have that type of connection, then I can't get them to follow
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what I point. Because that's the next step.
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First, pay attention to what I'm wanting, then look at what I'm doing and follow
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me around. And then we can work on imitation.
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A lot of times these kids will come in and they have a lot of attention for what they want to do.
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But when someone brings them a new toy or a new object, stuff like that, they're very aloof.
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They point to the side because their ultimate goal is to continue to help a
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child improve their communication skills.
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Because nine times out of 10, the behavior issues and problems that we see is
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usually from a lack of communication.
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So anything that we can do to help enhance that will help not only the child,
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but the parents and the families.
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One thing that I just wanted to mention is that our goal with nonverbal communication
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would be to point for your needs and wants. And then, of course,
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some children learn how to do sign language.
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But hand over hand, that means grabbing someone and just taking them,
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putting their hand on the toy to make it work and stuff.
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That's not necessarily considered pointing. That just means like you're just
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an extension of the child.
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And it's not, although it's a means of communication, it's still a very simplistic
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means, even behind pointing and gesturing.
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So a lot of times you'll see me write with a more higher level individual with
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autism about working on joint attention training, which is getting you to pay
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attention to the same object, even if it's just for a few seconds.
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And obviously, if you have attentional issues or something like that,
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that can also contribute to making it a little bit harder to work on that.
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So when we talk about nonverbal communication skills, that's when we talk about eye contact.
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And, you know, we all know that our moms could give us a look and they would,
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we knew when we weren't supposed to talk or when we were supposed to behave.
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There's also like when I'm talking to a parent, I know when they roll their
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eyes, I'm like, oh, they're not paying attention to me. They don't like what I'm saying.
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So those things may come naturally for some, but...
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Required in some individuals. And that's why sometimes they don't make a lot
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of eye contact because they don't get the same information from looking at someone in the face.
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Social reciprocity is kind of an example of if I do something, you do something back.
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So more than just being in the joint attention, if that means pay attention
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to the same thing at the same time, but I do something and then you do something back.
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One example is like is in the pictures, throwing the ball back and forth.
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One of the things I'll tell dads or moms is that try to play ball with the child.
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Usually, even when they're younger, if you play fetch, that's good.
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But if you can actually give them to kick the ball back and forth and stuff, that engages them.
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And then you can actually work on, oh, ball or kick or those sort of verbal cues.
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But nonverbal communication and social reciprocity in the form of a shared experience
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is key to continue to improve.
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But if they don't have that, then unfortunately, or if it's very limited,
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then it unfortunately falls into having difficulties in one of these areas where
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you have to have some degree of deficits.
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Relationships, well, that means engaging with others and engaging with peers.
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So a lot of these children come across as being aloof.
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A lot of people describe some of the more severe cases as being in their own little world.
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When they're young, you're supposed to normally kind of parallel play with somebody,
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like play next to, but these kids totally prefer not to.
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So it's normal to not want to share your toys, but to have a meltdown every
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single time that it happens, that might be a little bit different.
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That might raise your interest that, wow, so if they don't want to share their
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toys, how are they doing with their communication?
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How are they doing with their eye contact? Those sort of things.
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Some of the kids will actually want to play with kids. So you'll hear that they
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say, yeah, they play chase, they play tag, that kind of stuff.
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But then they don't maintain engagement.
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So as long as it's something physical, like jumping on the trampoline or running
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around, they can do that.
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But as far as like shared experiences, it can be very difficult for some individuals.
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And that's what we're talking about here. Shared imaginative play is a key to
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good outcomes because that's how we learn to socialize by our ability to communicate
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with others. So if I ask you a question, you ask me a question back, we're conversing.
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If you drop me off in China and I don't know Chinese, I'm not going to be the
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most social person in the world because I don't know what they're talking about.
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So I'll probably be a wallflower.
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But what I will do is I'll try to pay attention. And if I'm really hungry,
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I'll probably do a sign for food.
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And if I hear them and some individuals that are on the autism spectrum just
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have difficulties doing that. It just doesn't come naturally.
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It can be taught, but it doesn't come naturally to them.
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And when I talk about facilitated socialization, sometimes you'll see that a
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lot in my in reports that you see is putting them in situations where they're
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around others and neurotypical peers.
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And the reason is we learn our social skills primarily experientially.
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Yes, our mother says, you know, don't chew with your mouth open and other things.
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But the truth is that we learn most of it just by experientially.
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So if I say something that's a little bit awkward, well, then the other kid
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won't want to talk to me and they'll move away. And so I learned through experience.
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The other part, so you have to have an issue in all of these three areas for
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the official diagnosis of autism.
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Well, for the restrictive or stereotypic behaviors, you only have to have two of these four areas.
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So either stereotypic behaviors where you see the kids that,
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you know, do a lot of movements,
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such as hand flapping or the lining up of toys or, you know,
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repeating the same thing over and over again, or rigidity where they just can't,
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they have to have things the exact same way.
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And if it's not the exact same way, then it'd have a meltdown or it can't be done.
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It's okay to have a favorite blanket. But if you have to drive back home when
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you're on vacation because the
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kid won't sleep because he doesn't have his favorite blanket, it's tough.
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But if it happens more than once, you know, it's a problem because it affects
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their interaction with the outside world.
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And then all the kids don't like leaving the park if they're having a good time.
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But these are the kids that have a complete meltdown. And they're throwing themselves on the ground.
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And it doesn't just happen once. It happens over and over again,
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even when you signpost and give them warning that change is going to occur.
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I like to tell the residents is when it comes to restricted areas of interest,
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I've probably learned more from
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my higher functioning autistic kids about dinosaurs that I care to know.
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But as time goes by, the areas of interest like trains, and now it's all about
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sort of video games that I learn more and more and more about.
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But they just perseverate. And you know, it's a perseveration because you'll
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try to change the subject and then for the higher functioning kids that can
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have conversations, they'll always come back to it.
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And it's actually one of the driving forces in their minds.
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And as far as sensory stimuli, they can either be hypersensitive or hyposensitive.
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And most of us are a combination of both, but it's only when it causes difficulty
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in interactions and developing relationships that it's an issue.
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For example, there's a lot of kids that are sensation seekers.
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So they'll crawl underneath the bed or behind the couch because they like that tight pressure.
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Or they like to jump because they like that proprioceptive input.
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Or they'll look at the television upside down because that gives them a different perspective on things.
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But and it's a cessation seeker those are the kids that like
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you turn on the the vacuum or the blender and they have to cover their ears
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or if there's certain uh smells
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that it's just too strong they'll they'll get upset i had one kid that didn't
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like the color lime green and i happened to have lime green tie this is obviously
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before covid and the kid retched and almost threw and actually i almost threw
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up because he was had such a visceral response to just the color you know,
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So obviously that's an extreme example, but sometimes when you talk about food
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issues and stuff, they don't want
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the food to touch each other or they can only eat out of the blue plate.
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It's okay for kids to like having certain things, like drinking out of a shared
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certain color sippy cup and those sort of things.
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But when it comes that they can't adjust if there happens to be an emergency
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or a change to it, that's when you're like, okay, could that be in conjunction
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with the other areas of difficulty with communication or these restrictive patterns in other areas?
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Because remember, you need to have two out of the four areas, at least some impact.
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Then, yeah, I think the child may have an autism spectrum disorder.
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One thing that this slide is to remind me to tell everybody,
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and I know I probably mentioned it already, is that lining up toys,
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it's actually normal until about 18 months.
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You're supposed to line things up. It's a normal developmental progression.
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But when I have a five-year-old that lines up the cars or the blocks,
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and when I move them, they have a hissy fit, well, that's a problem because
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that's not normal because it'll impact their ability to learn from the other
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kids, to play with the other children.
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And they're not really playing with them. They're adjusting and they're putting
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order in their life in a certain way. But when people muck with that, it causes them an issue.
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So the reason I added this slide is to, we have to always lay the filter of
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what's proper normal developmental milestones for a two year old versus a four
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year old or an eight year old that's coming in with the possibility of a question
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or an autism spectrum disorder.
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Once again, you have to have one of these two areas of restricted interest or behaviors.
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So this is sometimes you see the kids that are, you know, repetitive movements,
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they either hand flap or, you know.
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The most important thing is the last part of the diagnostic criteria.
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You have all three areas of the communication, two of the four areas when it
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comes to stereotypic behaviors, but it has to have happened early in life and
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it can't be explained by another condition primarily.
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So, for example, I had a young man who was severely anxious,
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and they were so anxious they were kind of almost OCD.
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And we even gave him one of the tests we're going to talk about in the future.
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It's called the ADOS, and he came back positive on the ADOS.
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But when I started treating his anxiety, he improved so much.
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He was not doing the being aloof, the wanting things only a certain way,
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the impairment with his social abilities.
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And even his stereotypies, like his nervous habits, you know,
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continued to improve. Now, to this day, he doesn't have a diagnosis of autism.
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He's a little quirky and he has some attentional issues. But in life,
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you're allowed to be that way as long as you continue to progress and make progress.
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Then there are other, like I said before, other diagnoses that could impact
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your ability to learn how to communicate the intellectual disability.
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Now, it doesn't mean that one can't happen at the same time as the other.
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But when it comes to children with an autism spectrum disorder,
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I always have a hard time when we assess them for cognitive abilities,
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because if their communication is poor,
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they're not going to score very well on the test, even if it's a nonverbal test,
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because you're actually using verbal cues to have them perform.
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Once again, if I was given an IQ test in Chinese, since I don't know Chinese,
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I would come across as being cognitively delayed, and I hope I'm not,
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but who knows? Jerry's still.
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So as primary care providers or even as subspecialists, the concerning behaviors
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that make you think, well, they may or may not have,
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just kind of reviewing what we've talked about in the previous slides is poor
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communication skills, not responding to your name, not making very good eye contact.
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As they're getting older, lack of imaginative play.
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So all they do is build. And they're like, oh, they're the best builders, Dr. Vieira.
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They can stack a block, blocks up to 20 high, and they're five years old.
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And that's all they do with their blocks. That's not very imaginative.
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And if someone were to happen to knock them down, oh my god, that's a big issue.
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Once again, lining things up. Then there's stereotypic behaviors such as hand
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flapping, you'll see a lot of rocking.
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Sometimes they like to watch a video, but they only like either the musical
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part of the movie or one certain aspect of the movie.
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And they get really good with electronics and they'll just review,
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review, review, rewind, rewind, rewind, rewind. And...
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Sometimes they don't like their hands getting dirty or sticky where they kind
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of freak out and they can't feed themselves or they do feed themselves,
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but they have their hands immediately cleaned.
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Or even if they get splashed with water, they have to be changed or else,
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you know, they can't continue with the day.
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Now, individually, one isolated incident of this is probably within normal limits,
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but it's when it's chronically and it causes difficulties where the parents
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can't go to the restaurant because it's too loud and the kids are just covering their ears, you know,
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because then it's an issue or a problem where we have to think about.
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Yeah they could be on the spectrum and the best way
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that we have to sort of assess that is the the mchat
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so that modified checklist for autism in toddlers the
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aap has suggested that it be done at 18 and 24 month
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visits it's very sensitive and very specific and as
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you guys know it's just 20 questions and no any no in in questions other than
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2 5 and 12 is considered a positive and 2 5 and 12 that's like have you ever
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thought your child is is deaf do they have odd movements with their fingers or sensitivities.
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So it's really important just to understand how the test is done.
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Because if it's a low score between three and seven, one of the things that
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we suggest is that you go back and ask the questions yourself.
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Because I know a lot of places, the MA or someone will administer the MCHAT,
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and that's fine. But we just want to make sure the parents understand it.
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But if the score is greater than eight, that's automatically at high risk of
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having an autism spectrum disorder.
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And the medium risk, obviously, if you ask the questions and they're still having
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the positive scores, then of course, we're concerned that they could have an
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autism spectrum disorder.
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One of the things that gets alluded to is because it's such a heterogeneous
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condition, you have some individuals that go to college and they're probably
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CEOs of corporations and do extremely well.
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Then you have the other extreme where you have kids that don't talk.
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All they do is bang their head against the ground in hand flap.
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So it's such a huge.
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Diversity. We just want to make sure that there's a way that we can kind of
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screen what that is and to make, hopefully,
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providers, either the family practice people, the pediatricians,
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or the physician extenders, the nurse practitioners, comfortable with the fact
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that if there's someone that is on the severe side and we're comfortable enough
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that they meet the criteria, it's okay to diagnose it to continue to move the ball forward.
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Now, if there's someone that's more iffy and you're like, well,
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I'm not really 100% sure, well, then, of course, I think that's when the specialists
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in coming into play and kind of help tease that out.
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That's okay. So this is just an example of the, of the, of the,
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of the end chat. Pretty, pretty quick. They can do it in the exam,
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in the, you know, waiting room.
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So then we have, like, we're concerned that a child has it. We know that with
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the criteria, we're like, yeah, they have a diet, the official diagnostic standardized
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tests are, unfortunately, according to the Cochrane group, when they did a minute
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analysis, there's only, there's only three of them, but there's other tests out there.
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There's the KILOM autism, the GARS, a scale, but the gold standard is the ADOS.
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It has very good sensitivity and a pretty good
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sense of specificity it takes about 40 to 60 minutes
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to administer depending on what module you do and how cooperative the individual
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is to be assessed and tested but it
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gives you a good standard score the the test that
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i tend to use in my clinic is the the childhood autism rating scale it's
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a little bit faster to administer it doesn't have as many
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it doesn't have any semi-structured you know interactions but it
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does follow all the dsm-5 criteria and when
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they come to see me there's their the sensitivity
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well they're already concerned about it so it's the specificity is
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like do they or do they not have autism when they come and see us the reason
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i put this hf in parentheses is that there's two
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childhood autism rating scales there's one for for the what
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i call the the toddlers maybe early school age
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kids and then there's the school age kids because the high functioning ones
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this one deals more with like do they understand social pragmatics do they understand
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idioms they know how to read the room those sort of stuff and even though that
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the same similar type of questions it It just kind of shifts it over to individuals
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that have what they consider, according to the way they ask us to administer it,
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is higher IQs, greater than 80, 85, I think.
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The ADI has lost favor, and it was just a questionnaire type of interview,
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but it just had really poor sensitivity.
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So this one has kind of been lost to use as much.
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And why do you have to have a formal standardized test? The reason is to allow different therapies.
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For example, from Medicaid to pay for a type of therapy called applied behavior
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analysis, you have to have a standardized test.
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Now, there's no magic. And I had the residents tell me, well,
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Dr. Fior, can I administer the Childhood Autism Braiding Scale? I'm like, yes, you may.
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You're a pediatrician. You can definitely do that.
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The nice thing about the CARS is that it's a questionnaire, but it gives you
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a range of the different examples of the answers that you can actually say,
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okay, well, that seems like the child belongs here or there.
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So I think it's to help individuals deciding how to score the child.
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But this is just if you need a standardized test.
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These are not in addition to, like, so a lot of, like, for example,
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a lot of the ABA places will actually do the ADOS testing,
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and then they send the ADOS test results back to the pediatrician or the family
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practitioner or the nurse practitioner to do the official diagnosis of a medical
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diagnosis of autism so they can move forward and get the therapy that they want
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to administer to the child.
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So once a child is officially diagnosed with autism, I want you to know that
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there's a lot of comorbidities that we see.
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And our psychiatry friends and counseling and our teachers in the schools are
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definitely aware of this.
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So associated symptoms is of individuals with an autism spectrum disorder,
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70% of them have some sort of sleep issue, either problems falling asleep maintaining
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sleep, falling asleep during class.
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So that's a huge number, and that's why a lot of practitioners have difficulties
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with having to give medications or try to start sleep hygiene routines.
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But it's hard if the child's non-communicative to do something.
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For our neurology friends, they'll be happy to know that about 10% of them have a seizure disorder.
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Feeding disturbances happen in about 70% of these kids, and that can be either
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picky eating, trouble chewing, different difficulties with texture.
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And I want you to know that a lot of times kids get referred for,
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you know, oral motor therapy or feeding therapy and those sort of things,
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but they don't usually tend to have a discrete dysphagia. It's more like a textural issue or problem.
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But a lot of times the parents really focus on this and it's obviously very important.
22:27
But the truth for me personally is if a child isn't able to communicate with
22:32
a child, they're not able to communicate with a child.
22:32
And they only eat rich crackers and drink water, but they're growing well on
22:36
the growth curve, then let's focus on communication.
22:38
Because like I said before, nine times out of 10, the behavior issues happen
22:42
when they're frustrated and they can't communicate.
22:44
It doesn't mean that we're not going to continue to work on this,
22:46
but the emphasis needs to be on nonverbal, what they call functional communication.
22:51
About anywhere from a quarter to a third, I also have a diagnosis of ADHD.
22:55
We see anxiety in some of the kids, depression, obviously, in the older kids
22:59
that can actually tell you how they feel and the more higher functioning individuals.
23:04
GI issues such as constipation are seen about 20% and that sometimes goes hand
23:09
in hand with the feeding disorder depending on what they like to eat.
23:12
This is just to remind you guys again that cognitive issues and cognitive delay
23:15
are found in about a quarter of the kids.
23:18
Obviously if you keep doing IQ tests on the lower functioning children that
23:22
obviously this is continuing to be higher just because they don't have the communication skills.
23:27
But the things that you guys will see either if you're a
23:29
hospitalist or subspecialist or you know the primary care
23:32
provider is this aggressiveness so aggressive behaviors
23:35
and that's considered throwing things lashing out
23:38
pushing people away spitting kicking those
23:42
kind of things i've seen about in half of the children with an autism disorder
23:45
especially to caregivers and look all kids get frustrated when the parent tells
23:50
them no or ask them to do something but because a lot of these kids don't know
23:53
how to communicate even the ones that can answer questions and stuff they get
23:56
frustrated because they're not getting their point across, then unfortunately,
23:58
they physically will lash out.
24:00
In small print over here, it's 30% of non-caregivers.
24:04
So that's like, if you're afraid that they're just gonna attack someone when
24:07
you're walking down the HEB aisle and stuff like that, that could happen about 30% of the time.
24:11
Obviously happens more with children that have more deficits in their communication skills.
24:17
Self-injurious behaviors, that's like biting their thumb, head banging.
24:23
I have some kids that bite their lips.
24:25
Picking your skin when you have a bug bite or a scab to the point where it bleeds again.
24:29
Those are self-injurious behaviors, and it happened in about 40%.
24:32
And as far as what do we do about these, well, a lot of times we will work with
24:36
behaviors like try to redirect or try to get them to communicate different needs,
24:39
find a filler with the redirection.
24:41
But unfortunately, some of them need medications to kind of help at least get us over the hump.
24:47
Different things there are risk factors for autism spectrum disorders,
24:50
and I'm trying to hurry up.
24:51
It used to be that four out of every child diagnosed with autism was a male.
24:56
Now it's about three and a half, and I think that just says the prevalence rates
24:59
have gone up. We're diagnosing more girls with an autism spectrum disorder.
25:02
Being born premature increases your possibility of being diagnosed.
25:05
Obviously, the more premature you are, the more likely that you are to have
25:08
an autism spectrum disorder.
25:10
If you have one sibling with an autism spectrum disorder, there's almost a 20%
25:14
chance you're going to have a second one. And what I like about this particular
25:17
study is that they actually adjusted for the fact that once you have one child
25:20
with autism, it seems to be very good.
25:23
There's less, it decreases fertility rates afterwards. So parents sometimes
25:26
don't want to have a second child after they have one with autism.
25:29
If you already have two siblings with autism, there's a 50% chance they'll have
25:33
a third one with autism. And that's just important to be aware.
25:36
So other risk factors for a diagnosis of autism spectrum disorders are it is
25:40
seen in certain genetic disorders.
25:42
So in trisomy 21, about 10 to 15% of them will have a diagnosis of autism spectrum disorders.
25:47
And you'll know that because the phenotype for those kids, obviously,
25:49
is that they're social and they like to engage with others and stuff like that.
25:53
You'll know when these kids don't want to communicate and they're perseverative.
25:56
It's almost like they're angry, which is kind of the opposite of what we usually
26:00
see with kids with trisomy 21.
26:02
Then assorted other genetic disorders, neurofibromatosis, about a quarter of them.
26:07
Fragile X, a third of them will have a diagnosis of autism spectrum disorder.
26:10
For Neil de Lange, Smith-Lemelie Opitz.
26:12
The interesting one is that, remember I said that we don't know what causes autism?
26:16
And this proves my point, because tuberous sclerosis, we don't know where they're
26:21
going to get the tubers, but three quarters of them end up having a diagnosis
26:24
of autism spectrum disorder.
26:26
So obviously there's something that predisposes them to having an autism spectrum disorder.
26:31
Gosh, 75% is even more than seizures in these TS kids. That's 75%.
26:38
Talking about genetics, just in general, when they did a huge genetics study,
26:43
meta-analysis, about when you send the whole exome, about 5% to 20% will come back.
26:49
For me, it's more like 10% to 15%, but up to 20% will come back abnormal.
26:54
But as you guys know, in your clinic, sometimes it's of unknown clinical significance.
26:58
And that's what the whole idiopathic means, because it's so heterogeneous.
27:02
It's not one deletion or one duplication or mitochondrial issue or that kind of stuff.
27:06
So they're still trying to gather more information. And that's why the AAP still
27:10
wants us to do genetic testing on the children that are diagnosed with an autism
27:14
spectrum disorder because we're building up the bank.
27:16
Because when it's all said and done, I think everything's going to be multifactorial,
27:20
but there are going to be certain conditions that probably predispose you to
27:23
having a diagnosis of autism.
27:25
The only reason I threw in this is for you guys, if you come across it,
27:28
it's pronounced missing.
27:29
And it's a conglomerate where it's a huge database with different genetic information,
27:35
so that hopefully they're a little bit better at mining the different differences
27:39
in children and adults that have an autism spectrum disorder.
27:43
Kids with congenital heart issues, for our pediatric cardiologists out there,
27:47
and for anyone that takes care of kids with congenital heart issues,
27:51
just know that it increases your chance of having an autism spectrum disorder
27:55
by twice as much. So that's pretty significant.
27:58
On that same study, they found that almost half of the kids had some degree
28:02
of a neurodevelopmental disorder, either learning difficulties,
28:05
language delays, ADHD, autism.
28:08
So just to keep in the back of your mind that we're, that it's very, you know.
28:13
Just because the cardiologists do such a fantastic job, it doesn't mean the
28:17
child doesn't have continued issues, especially when they get to school age.
28:20
And just to be aware of that.
28:22
There was an interesting study. And the reason I only mentioned this about ion
28:25
transport channels deficiency is because that's where they found an overlay
28:29
in the genes of children that had autism and the children that had the congenital heart defects.
28:33
And it has to do with embryogenesis. And the interesting thing about this is
28:38
that kids with congenital heart have a very similar phenotype to some of our
28:41
premature infants with their delays in executive functioning,
28:44
attentional issues, and a higher chance of having a diagnosis of an autism spectrum disorder.
28:48
So obviously, at the same time as your heart's being put together, so is your brain.
28:52
So I think that there's a lot of interesting studies to be done.
28:57
So what do we do if the child already has a diagnosis of autism?
29:01
I'm here to say that it's okay to refer for therapies. We know that of children
29:05
that have autism, 60% of them have had some degree of ABA therapy,
29:09
and I'll go into details in a second.
29:11
85% have had some speech therapy, occupational therapy in about half of these
29:14
kids, and behavioral therapy, which is obviously not as intense as ABA therapy,
29:18
but hopefully focused on helping train the patient and the parents on how to
29:22
work on a specific issue.
29:25
The biggest problem is that I am 100% proponent that if a child has a diagnosis
29:31
to refer for therapies, because that'll help everybody, the whole community,
29:35
be it school, be it the parents, be it the grandparents, learn how to work with the child.
29:40
But long-term studies have not shown that it has long-term benefits, kind of like ECI.
29:45
The only one of all these therapies that has shown sort of long-term improvement
29:49
and benefits is ABA therapy.
29:51
And even with ABA therapy, when they did a big meta-analysis, it's very intensive.
29:55
It's, you know, when Lovas first, you know, wrote about it, it's 40 hours a
29:59
week. So it's a full-time job.
30:00
So in this meta-analysis, it was 20 to 40 hours per week. And they saw moderate
30:04
improvement in adaptive, so like daily living skills and in cognitive abilities.
30:08
But it was that moderate improvement was about a half a standard deviation score.
30:12
So it's about seven points if you like to talk standard deviation scores on testing.
30:19
So it has shown long-term effects and that
30:22
it does help improve things that doesn't mean that i i don't want children to
30:25
be diagnosed you know referred to for speech occupational therapy i think it's
30:29
important i think that but just know that as far as in children with autism
30:33
as far as helping with their with their long-term issues and problems it's been
30:36
very hard to to tease out significant improvements when you look at at the population in general.
30:43
One of the other treatments that you see, the FDA has only approved three meds
30:46
for children with autism spectrum disorders.
30:48
So we don't know what causes autism.
30:49
Please understand that these three medications help treat symptoms.
30:52
So an SSRI fluoxetine tends to be used for kids that are perseverative or they
30:56
have like a lot of anxiety.
30:57
The studies have not been 100% effective in saying that it makes a significant
31:02
difference in anxiety, but it is one of the indications for the use of fluoxetine.
31:07
Same with Risperidone and Abilify.
31:09
We use those for kids that have problems with aggression or mood lability, obviously.
31:14
And a lot of times I have to do whatever we can to help these children go to
31:21
school, work with their therapist, or just even engage with their caregivers at home.
31:25
Since, as you guys saw before, there's a lot of frustration in behaviors with
31:29
aggression seen in these children.
31:31
Now, the other uses of medications are kind of off-label. They're to treat the
31:34
impulsivity or the anxiety or even the sleep issues.
31:38
Because I know that when I don't sleep well, I'm a little irritable the next day.
31:41
So I can just imagine someone that has chronic sleep issues,
31:43
well, they're going to be a little bit more ornery when it's time to get ready,
31:46
especially if they don't like changes in their routine.
31:49
Now, alternative therapies and treatments, please understand,
31:51
this is not an exhaustive list. There is way more than this. But.
31:57
Individuals that have an autism spectrum disorder, 90% of them have tried these
32:00
in their lifetime, at least one of these in their lifetime.
32:04
This is a meta-analysis by Gosling, and it found no significant improvement
32:08
in the core symptoms of autism.
32:13
So we know that melatonin can help with sleep initiation and those sort of things.
32:16
But as far as helping with the core symptoms of the communication and the stereotypies,
32:21
those kinds of things, it has not been able to be demonstrated.
32:25
But things that we hear about all the time is the gluten casein-free diets.
32:30
And I usually tell parents, if you want to try it, since we don't know what
32:32
causes it, I'm not here to tell parents that they can't do something,
32:35
but that has to be done in a way that does not cause problems with the child.
32:40
So I say, if you're going to try this, the whole family has to do it and you
32:43
do it for a month or two, and then you have to reintroduce the gluten casein
32:46
just to see if it really makes a difference.
32:49
I know that you guys will read this and be like, really, stem cells?
32:52
Two weeks ago, I had a parent that went this summer to Tijuana,
32:56
Mexico, and got stem cells.
32:57
It was just for the use that are, anyone that's curious, it was $3,200 for four
33:02
rounds of stem cells for the child.
33:04
The dad swears that it's improved. The child, to me, looks exactly the same.
33:08
It hasn't made any significant improvements, but that's an end of one.
33:11
And, but if you go online, there's a lot of people that sell because they want,
33:16
that sell the benefits. Chelation therapy.
33:18
I mean, it's been, done here in the United States, either with oral telating
33:23
agents or just things that they can sprinkle in the bathtub and those sort of things.
33:27
MERT, magnetic resonance therapy, is another thing that you hear out there.
33:31
Hyperbaric chamber has been proposed.
33:34
Unfortunately, none of these have shown us any significant improvements.
33:37
As a matter of fact, when it comes to chelation therapy, the only associated
33:40
death from alternative therapy was, I think, with a child that was given IV chelation therapy.
33:45
Now, as far as the whole supplements, people that round with me,
33:48
like the residents and stuff, know that sometimes I'll suggest nutritional supplements and vitamins.
33:53
I know that, and it's primarily to see if it makes a difference. It might be beneficial.
33:58
I know that 20% of it might be a placebo effect. I usually suggest maybe like
34:02
omega-3 fatty acids or vitamin B12 and acetylcysteine maybe.
34:07
We can try that because I'm trying to forge a relationship with the family.
34:12
So in case we ever have to get to a point where we have to use the medications,
34:15
that they're at least comfortable and they've tried everything.
34:17
The problem is that we're dealing with, we have them,
34:20
the parents and families for a short period of time, and they're reading or
34:24
their neighbor or their sister is telling them this and that and how that this
34:29
child was cured when they gave them extra carnitine or they did the oxytocin or whatever.
34:33
So it's really, it's really important to just be aware that things are out there.
34:37
And I'm a big believer in you catch more flies with honey. So I will work with
34:42
families as long as they don't do anything that can be detrimental.
34:45
An example of this is there is a family and there's actually a practitioner
34:48
in the area that recommends like camel's milk for treatment of autism.
34:53
And, and I explain, and they're telling me about all the antibodies that the
34:56
camel milk have and how it cures it and that kind of stuff.
34:59
And I explained to him that the only way that you can have camel's milk antibodies
35:02
is if it's unpasteurized.
35:04
And that's not probably the best milk that I want children to get because I
35:07
have no idea where these camels are milked or how you do that.
35:13
So I told him, I don't recommend it, but if that's something you're going to
35:17
do, you have to do it in a step-by-step fashion and you have to be very careful.
35:21
So I just want you to know, and this is actually here in San Antonio,
35:24
there's proponents of this and you can go to clinics.
35:27
And I think it's like 15 to 20 bucks a pint of camel's milk in case anybody
35:32
out there is interested.
35:33
Else they'll send it to you on dry ice. Yet, so alternative therapies,
35:39
one of the things that's been in the news a lot lately is the question about leucovorin.
35:43
So leucovorin is not necessarily methylfolate. It's a reduced substrate of the
35:48
folic acid that is given in prenatal vitamins.
35:51
What happened is the research for this has been around for a long time, for 20 years.
35:56
The research about this folate receptor alpha antibody in children with autism,
36:01
it's like 10 years old. So I don't want you to think that it was just yesterday.
36:04
The reason why it's being brought up now is because it's being talked about
36:07
more and more in social media.
36:08
The thing about, you know, a prenatal vitamin, when they did the frat testing,
36:13
because that's what you'll hear a lot of parents say, oh, we do frat testing
36:15
on kids. It's not, it's still in the research phase.
36:17
It's not standard of care to do frat testing on anyone or anything.
36:20
And it was only seen in about 65% of the kids that had an autism spectrum disorder,
36:24
which is pretty high, but it's still only, you know, 65%.
36:28
And it wasn't all of them. but they've done studies like well how do we get
36:31
around having these receptors autoantibodies to get the folate into the into
36:35
the system well so they said leucovorin since that gets you know.
36:40
Methylated in the gi tract and if you give a large enough dose you can bypass
36:43
some of the feedback loops so they did a couple of different studies that i
36:47
just wanted to mention they're small you know 47 kids but two milligrams per
36:51
kilo with a max of 50 milligrams in a double blind placebo control study that
36:55
was for four months and it actually improved communication
36:58
in two-thirds of them by parent report, which is pretty impressive,
37:02
more than the placebo effect. And it was double-blind controlled.
37:05
So please understand they gave it to him and then they didn't give it to him.
37:07
So it's really understand that it's, I think it's real, at least in the parent's observation of it.
37:14
And remember, communication is the key to all these behavioral issues. So it can't cause any...
37:19
I think that that is something to think about. Another study was with 84 patients.
37:23
They also gave them two milligrams per kilo of the lucovorin.
37:27
And it decreased their CAR scores, which is the childhood autism rating scale,
37:31
by greater than six points.
37:32
And they were treated for about two years with the lucovorin.
37:36
So it's just for you to understand that it's relatively safe.
37:40
You know, in all the studies that I've read, you know, we give it as a prenatal
37:44
vitamin to parents, to mothers, expecting mothers. So it's really,
37:47
I think that it's something to think about.
37:49
I know that the AAP has definitely said, you know, it's still in the experimental
37:54
phase and that kind of stuff.
37:56
But when I have patients that are going to my CEO to get stem cells or getting
38:00
chelation therapy up the road in Austin, or they come in with a headband with
38:05
the magnetics, magnetos, magnets on them,
38:08
I'm actually, I have to be honest
38:10
with you guys, I've probably started lucovorin on maybe 30 kids so far.
38:15
None of them have had any negative side effects, even at the higher doses.
38:20
And a few of them have shown more vocalizations and maybe talking a little bit
38:23
more, but they're only starting to come back because I see the kids about every six to eight months.
38:27
And I only started this maybe like at the end of March, maybe.
38:30
And I do it on a case-by-case basis just because I'm still learning about it.
38:37
So the controversies, well, I guess if you go on social media,
38:41
lucovorn is controversial as far as like who gives it or doesn't get it.
38:45
And like, it's not that the pharmaceutical companies are trying to keep it away
38:47
from the families and this and that.
38:49
It's just that we're just learning more information about it.
38:53
One of the big ones is the whole Tylenol issue.
38:57
And this was the study the nurse's health study too in
39:00
the boston the boston study were the ones that came up
39:02
with saying that your odds ratio so 1.4 times
39:05
likely to have an autism diagnosis if you chronically used tylenol which is
39:09
more than four times a week or more of tylenol the problem is that even though
39:13
they had 116 000 participants it was not large enough to be able to tease out
39:18
why these individuals were using the acetaminophen did they have autoimmune
39:22
issues where they had Did they have a fever?
39:25
Did they have, you know, what was the reason?
39:27
So please understand that, yeah, they saw an association, but they didn't find
39:31
a causation, a cause for the autism spectrum disorder.
39:34
And one of the things we're not hearing is that in that same study,
39:37
1.7 odds ratio for having ADHD.
39:39
So obviously Tylenol causes autism and ADHD and a bunch of other things in pregnancy.
39:44
Well, that's not 100% true.
39:45
Actually, there was a recent study in JAMA
39:49
out of Sweden that had 2.5 million participants followed and they're following
39:54
the mothers and when they used sibling control studies the odds ratio was one
39:58
so they didn't find any difference in women that took acetaminophen versus as
40:02
far as diagnosing both either autism or ADHD so I'm,
40:07
comfortable that I don't think that the tunnel causes an autism.
40:11
Now, I would much rather that a pregnant mom treat her fever so that she doesn't
40:16
have a premature infant, maybe stay away from ibuprofen.
40:20
So I still think that if there are circumstances, then I think the mom should use tunnel.
40:27
One of the things I wanted to touch base on is these predatory journals,
40:30
because one thing that I haven't mentioned in my absolute last slide is, guess what?
40:34
Vaccines don't cause autism. And it's been talked about and done studies on
40:40
them, in my personal opinion, ad nauseum.
40:42
And I think that maybe our resources need to be channeled in other directions.
40:46
Because once you have a family or an individual that believes that vaccines
40:50
cause autism, even with data and stuff like that, it's hard to change their minds.
40:54
And just doing another study to show it, unfortunately, it doesn't change people's minds.
40:59
So just for you to be aware.
41:02
These predatory journals, so like RFK, actually, Junior, during his Senate confirmation
41:07
committee, quoted this journal, the Science, Public Health Policy,
41:10
and the Law, about how autism is caused.
41:13
There's association between vaccines and autism.
41:15
But the guy who, this journal, was printed by an anti-vaccine activist.
41:20
And it's not peer-reviewed. It's one of those, and if you see in the New England
41:24
Journal, there's 15,000 other journals out there that you pay,
41:27
and it facilitates, you know, dissemination of, you know, weak or unvetted information.
41:32
And unfortunately, parents will come in and they'll bring you an article and they'll show it to you.
41:36
And they'll be like, I want Michelle to have this. Or one thing that blew up
41:40
our phones is like, we want testing for frat.
41:43
Or we want all our kids to be on lukewarm.
41:46
And I'm like, you know, when I see you in person, we'll talk about it.
41:49
And we'll discuss if that's an option or something that we may or may not want to try.
41:53
So the only reason I bring this up is just for you guys to be aware that when
41:56
someone comes in and says, well it's been published stuff like that there's
41:59
a lot of journals out there that are misleading and they can be misleading like.
42:03
Instead of being the New England Journal of Medicine, it'll be the New England Journal.
42:07
It's like they're deceptive in some of the titles and those sort of things.
42:12
And parents aren't as sophisticated in reading journal articles and stuff to
42:17
understand the difference between what's a peer-reviewed journal and what's not.
42:20
And sometimes if it's published or if it's in print, they believe it and they
42:25
think that that's the law or it's real.
42:28
One of the hardest things of treating children with an autism spectrum disorder
42:31
is because we don't know what causes autism.
42:33
And unfortunately, I've said that like 10 times this visit, is that there's
42:37
going to be a lot of opinions.
42:39
I like to tell some of my closest friends that if I would have invented a snake
42:43
oil that cures autism, I think I would have already retired or at least bought
42:46
a small island in the Caribbean.
42:48
But the Hippocratic Oath says that I try to do no harm.
42:51
So it's very important for me to be as honest with the families as possible
42:56
and understand that different families are at different points in their journey
43:00
with children that have an autism spectrum disorder and that children are different.
43:04
You have some kids that are more severe and some kids that are less.
43:07
Wow, that was a lot of me talking. The references are at the end of my talk
43:13
if you wanted to fact check me.
43:17
Are there any questions out there? so dr fear thank you so much so much for
43:22
uh you're wonderful talking about a clear i can't issue you a couple examples
43:25
i think your insights are fundamental the value valuable so i'll open up a lot of questions.
43:34
I'll be monitoring i've had one of the questions for dr gross from dr gross
43:39
is have i had i've probably i've been doing this for 22 years i probably have
43:44
had a handful of kids that had the diagnosis of autism that improved to the
43:49
point where I don't think that they meet the criteria to have that classification.
43:56
They get, I've seen improvement. You know, I have very few kids that have haven't
44:00
improved at all, but a very, probably a handful of kids that I feel,
44:04
no, they don't need a diagnosis.
44:05
I did have a dad asked me the other day, he's like, so when does he lose the diagnosis of autism?
44:10
And I told him, cause he's a pretty high functioning kid, difficulty making
44:13
friends, that kind of stuff.
44:14
And I told him, Hey, when he can get out of a speeding ticket by talking his
44:17
way out of it, we'll have that conversation. Maybe I'll drop the diagnoses.
44:21
He's like, Oh, okay.
44:23
So, so yeah, I have seen it, but it's very few and far between.
44:27
And then it makes you wonder, you know, what was happening.
44:30
There's another question as far as, like, does insurance cover Lucovorin?
44:33
You know what? Some insurances do.
44:35
And so I've been writing it for everybody. But what I end up,
44:38
since I've only done it, like I said, 30 times...
44:41
Tell the parents that if the insurance charges them more than like $40,
44:46
then you can actually get something similar to MTHF online.
44:50
You know, we can go about it a different way. But I at least try to go through
44:54
getting it through the insurance companies.
44:57
And for the most part, they've actually been paying for it. And they don't require,
45:01
like, they're not requiring any tests. Vitamin A.
45:06
The literature the literature for for for vitamin a
45:10
and vitamin d for example i it's it's it's very it's it's iffy it's it's not
45:16
they're not really good studies there's theories about how it can help with
45:20
some of the children i think that if it's in done in low doses i'm like if you
45:24
really believe in it you can try it but there's not i don't put i put on i don't
45:28
put all my eggs in one basket.
45:30
I think that the, that the, where you get your bang for your buck is working
45:34
with individuals and trying to figure out the best way to help someone learn to communicate.
45:38
If it, if it means using an automatic communication device, learning how to
45:42
use signs and being in a, in a school, a school program, specialized school program versus ABA.
45:47
One of the things that I did not mention is that ABA therapy,
45:50
although it's the one modality that's been shown to show improvement.
45:54
And like I said, adaptive and cognitive skills, it's not meant for everybody
45:57
because it's very intense and some kids don't do well in it.
46:01
It is like i call it the ultimate tough love approach like if
46:05
you don't do what they're expecting you to do then you don't get what you want now there
46:08
is there is one subset and i didn't want to go
46:10
into into the weeds but it's called naturalistic aba therapy
46:14
which you might have heard the early demo model is
46:17
usually is one of them it's a little bit different and they
46:20
kind of follow the child around and use whatever they're doing as a
46:23
means to try to work on their communication skills be it
46:26
either joint attention pointing non-verbal communication
46:29
answering you know labeling things or the
46:32
most important thing for me is can they answer yes or no questions or can
46:35
they answer questions because if once you can get them to that point well then
46:38
obviously i can get information back and forth or they at least
46:40
can convey things more fluidly with with us and do all kids get to that point
46:45
no but that's the ultimate goal to to help their communication skills so they
46:50
don't get frustrated and you have less of the behavior issues and problems so
46:53
no i do not do a frat testing because even it's funny if you actually read the
46:56
studies of the kids that had the auto antibodies that were positive,
47:00
they did have a slight, they said they had a little bit better improvement.
47:03
I think instead of like 66% improvement, they only had like a 70% improvement.
47:07
And I actually called some labs around and it's not a regular lab that gets done.
47:12
So I think that it's still in the research stage, but it's not precluding me
47:16
for trying with certain families to see if it makes a difference,
47:20
especially if we've tried a lot of other things before.
47:23
And, you know, they're very hesitant about wanting to move on to medication,
47:26
or they've already tried a lot of different things and they're just one more
47:30
thing. I'm like, I'm not here to impede things.
47:32
I want to be an asset to these families moving forward.
47:38
So most ABA clinics, I'm sorry, the question is, is there a Medicaid coverage
47:46
or after the age of 12 for ABA therapy?
47:48
Most clinics actually don't offer ABA therapy after the age of 12.
47:52
And it's because the studies were, I don't know if you remember,
47:55
the meta-analysis was done from like two to five, six years of age.
47:59
It was roughly done. And there are some studies that show that after about the
48:03
age of 10 or 11, that you don't get a lot of significant improvements in the
48:08
communication and cognitive skills by doing the ABA therapy,
48:11
if they've been in it before.
48:13
Now, if they're de novo, I had a kid, a sad case. I think it was a nine-year-old
48:17
that showed up, and he'd never been diagnosed with autism, and he doesn't have
48:22
any language, that kind of stuff.
48:23
And so I'm trying to get him into ABA as soon as possible because his joint
48:26
attention is atrocious and his behavior is only getting worse because he's starting
48:30
to get bigger and stronger and poor mom can't handle him.
48:33
So to answer your question is it's hard to get any teenager into ABA therapy.
48:38
Now, I can usually get them into behavior therapy, which is not as intense as
48:42
ABA therapy, and I can get insurance to pay for that.
48:46
What was the next one? There's a lot of good information.
48:50
There's a lot of, the question was, as far as the use of AI or different machines
48:54
or technology to help with the diagnosis of autism.
48:58
I think that they can definitely be benefit. And a lot of people purport that
49:02
they can, they're more accurate than, you know, sometimes even seeing somebody.
49:07
The problem is, autism is such a wide variety and such a spectrum that I think
49:14
that it does a very good job with the kids that are lower functioning,
49:17
but they have a harder time with the higher functioning children.
49:20
There are some kids that you've probably come across that I call them waiting room diagnosis.
49:24
You can diagnose them before they even come into your room because they're hand
49:27
flapping and they're going, they don't make any eye contact and they only have
49:31
one thing that they, you know, flap in front of their face.
49:33
Well, the machines have been really good at that because they focus on like
49:36
different software uses different avenues of doing it.
49:42
But as far as making connections, eye contact, that kind of stuff.
49:45
There was an interesting study out of San Diego where they showed 18-month-olds
49:49
of siblings that had autism.
49:54
So they were trying to figure out if the child was going to have autism.
49:57
And they showed them pictures of faces and then pictures of geometric figures.
50:01
And the kids that ended up having autism were the ones that spend more time
50:05
looking at the geometric figures than necessarily the faces,
50:08
which tells you that they just have that difficulty with picking up the little
50:12
nuances of facial features.
50:14
So all in all, I think that in the end, I think we all have to think about how
50:18
AI is going to change the way that we practice moving forward,
50:21
regardless of what our specialty is or what we decide to do.
50:24
But I think that there always will be a need for providers to be a liaison or
50:31
to be able to explain things to parents in a different way than maybe some of
50:35
these software tests can do.
50:39
That's it. The question was, do you see a trend of older teens and young adults being diagnosed?
50:43
Yeah, I do. And I think it's because, I don't know, I think there's a subset.
50:48
I know that Abby did a great job of talking about the prevalence of autism.
50:52
But one of the things that's hard to do is the rates of diagnosing cognitive
50:57
delay and mental retardation have gone down as the rates of diagnosing autism.
51:01
So it was almost like it was more cool or PC to have a diagnosis of autism than
51:06
necessarily being a child that has cognitive delays and cognitive issues.
51:09
Now, when it comes to the older kids, a lot of kids, when they're feeling different,
51:14
stuff like that, there's so much information in social media and stuff.
51:17
I have teenagers coming to me saying, I think I'm autistic. And I'm like,
51:21
well, I don't really think you're autistic, but we can, you know,
51:24
we can do some tests and we do some audit reasoning.
51:26
We do some idioms and that kind of stuff to kind of figure out,
51:29
like, do they really know how to read the room?
51:31
Those sort of things. But yes, we have seen, to answer your question,
51:34
yes, there are more teens and adults being diagnosed with autism,
51:38
which increases the prevalence.
51:39
Although the studies, the CDC
51:42
study and stuff like that, that was the one to 31 ratio is age of eight.
51:49
Now, I think that we've seen that not going, not being in, you know,
51:53
socialized due to like the COVID outbreak and that's where kids,
51:56
you know, were homeschooled or they were, you know, not not having a lot of interactions.
51:59
I did see a significant, I did see some difficulties with expressive language
52:03
delays with some children coming out of COVID and stuff.
52:06
But the truth is that my rates of diagnosing autism hasn't necessarily increased
52:10
or decreased since the COVID pandemic.
52:13
But I do think it definitely played a role because some children didn't get
52:17
as much of a chance to interact with peers or to even learn social mores.
52:21
I had one interesting case where I had a child that the mother had autism and
52:27
everybody swore that the child had autism.
52:29
But as soon as we put the child in a Mother's Day program and then later in
52:32
preschool, she perked up and she was typical.
52:34
She was just picking up all her imprinting skills, language skills,
52:38
and social skills from her mother who was on the spectrum.
52:42
Thanks for listening to that fabulous talk.