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Dr. Bob Underwood (Host): Welcome to Pediatrics in Practice, a CME podcast. I'm Dr. Bob Underwood. And today, I'm joined by Dr. Justin Coogle, a pediatric neurologist at Children's Mercy, Kansas City. Today, we're exploring how primary care clinicians can recognize early and often subtle neurologic red flags across childhood development. Dr. Coogle, thanks for taking the time to join us this morning.

Dr. Justin Coogle: Yeah, happy to be here. Thanks for having me on, Bob.

Host: Yeah. Absolutely. So from a primary care perspective, what are some early neurologic signs or symptom patterns that should raise concern beyond typical developmental variation?

Dr. Justin Coogle: I think whenever people think about developmental concerns and things that perk up a neurologist's ears, you know, the obvious one is clearly like a global developmental delay. That's classified and defined as having two different domains of developmental delay. And so, if someone's exhibiting delays in speech, behind in their word counts or responding to what would be expected, like as appropriate commands or whatever in a certain developmental stage, but then like maybe two or three months later, also showing lags in their gross motor development, and all of this, especially contextualized, if they were introduced to period of therapy for maybe like one or two months and continued to have lags in development in a different domain, that always perks of a concern for us. And, you know, we're always happy to see kids with global delays earlier than later.

I think the domain of development that, at least for me personally as a pediatric neurologist, concerns me the most is a prolonged period of speech delay, especially there's a lot more of a stronger conscientious awareness of things like autism spectrum disorder. But even when we think of things like rare genetic epilepsies and epileptic disorders, speech delays always raise a higher level of concern.

The other thing when I hear about a neurologic symptom—I'm always more than happy to see that kid sooner than later—is weakness as well. You know, I think, focal weakness, especially can be kind of hard to recognize for some people, outside of like a very obvious patient that had a traumatic birth or a very dicey early life where the concern for like a cerebral palsy or a static encephalopathy would be higher at the forefront of your thoughts. But when a kid maybe has a very subtle asymetry in using their left arm versus their right arm, or even like having maybe like a more subtle dragging of a toe, a foot, I think these are things that are easier to overlook. You know, parents always say their kid's quirkier, but those would be kids that I'm more prone to see as well.

Host: Got it. Now, are there age-specific red flags, like infants versus toddlers versus school-aged children that pediatricians should be particularly mindful of during routine well-child visits?

Dr. Justin Coogle: When I think of age-specific outside of the developmental milestone grids that, you know, we're all reasonably aware of. And then, think of things like the ages and stages questionnaire three, the ASQ-3, you know, these like developmental screening tools. I think those do a good enough job without having to add too much extra detail.

When I think of things that are a little bit more age-specific, any sort of speech difference—you know, I know I kind of commented on this a little bit earlier—but like any sort of like speech difference, especially like loss of speech in a two- to three-year-old-plus child, if they had words or if they had the ability to string together phrases and they lose or stagnate in that ability between, like, that two- to four-year of age definitely is concerning to me. Especially with young girls, we think of Rett syndrome and other forms of neurodevelopmental disorders that we'd like to see and evaluated further. You know, when we think of children in their school age years, maybe between like four to seven years of age, and maybe they're a little bit of a restless sleeper, but their school performance starts to drop. And they also are maybe having it feels like a stutter, but it's not a classic stutter, or they start struggling to finish their sentences. They start like really forgetting particular words, like more of an expressive speech delay. And then, they're struggling and reading comprehension and all kinds of like reading and language-learning skills. These are things where we start think about is this child maybe suffering from a nocturnal epilepsy or an epileptic syndrome, such as like a Landau-Kleffner syndrome where having seizures sometimes is overlooked at night.

And then, the language disorder is a major component of that. So, those are things when I think of age-specifics, the easy anchoring developmental sign tends to be speech tied with those ages. But outside of that, unless they're having very obvious focal neurologic symptoms, you know, I think those would be the things I'd think of.

Host: Sure. Now, those were kind of subtle in some of your explanations. So in your experience, which neurologic symptoms are most likely to be subtle or even overlooked in early primary care settings?

Dr. Justin Coogle: I think one that sometimes catches people, maybe overlooked, is something as simple as like febrile seizures. Febrile seizures, we're all pretty well aware of, right? It's a child that has a provoked seizure between six months and five years of age.

And I think one thing that people often forget about that requirement though, is that the child is developmentally normal. It's part of the definition. Febrile seizures by itself, the reason it's its own diagnosis is because it informs a prognosis. And so, you know, when you're saying that this child has something like a febrile seizure, more specifically a simple febrile seizure diagnosis, you're saying that their risk of epilepsy is anywhere between 0.5% to 1%, which basically the same as the general population.

But if the child later on, let's say they have their first febrile seizure at like one-year of age, but then they get diagnosed with autism spectrum disorder at two years of age, or they start developing speech delay at three years of age, et cetera, et cetera, this child no longer qualifies for that. If they're continuing to have fevers and the seizures in the setting of fevers, they actually are at an increased risk of epilepsy down the road. And so, I think that's an example of a neurologic symptom that you're kind of blindsided by your early definition or your early diagnosis and you think, "Oh, febrile seizures, they'll just grow out of it." But these other context clues maybe change that.

I think other things is like visual symptoms and balance, are maybe subtle. And let me cluster in movement disorder there too. I think kids that maybe experience chorea. They seem restless, they seem agitated. They're may be moving a little bit too much. I just had a clinic appointment recently where the concern was for tic because this patient, she keeps like twitching her hands, twiddling them around by her tummy. She keeps like fiddling with her clothes nonstop. And then, when I walked in and looked at the girl, it was very clear that she was in florid diffuse chorea. And she'd been experiencing these choreiform movements for what sounds like months. And her primary care was concerned for tic, a movement disorder. But it was actually a little bit more, robust than that. So, I think like movement disorder and then things like balance, the kid's uncoordinated, the kid's tumbling a lot, the kid's maybe struggling to do good fine motor skills. And sometimes you can have examples of symptoms like ataxia, which is a discoordination symptom, or hypotonia, poor muscle tone, that can be indicative of other genetic abnormalities. And that's a little bit easier to under the radar.

Host: Sure. Absolutely. And, you know, as an emergency physician, certainly, the febrile seizure component that you spoke of I'm quite familiar with and have seen many, many times. So, how should pediatricians approach that wait-and-see? When do you wait and see versus initiating earlier workup? You said that you'd rather see them earlier than later. So when do we refer versus when do we wait and see?

Dr. Justin Coogle: I think there's definitely many chief complaints where I think people refer too quickly and then, I think people don't refer quickly enough. We kind of touched a little bit on that. I'd say as a general rule, two years and under, if there's ever developmental concerns, I don't think me or any of my partners would ever feel bad on an earlier developmental delay referral than a later one.

And so, as I said, like in my personal practice, if there's ever global developmental delay, I would give maybe no longer than a three-month opportunity for therapies to show some improvement before at least getting us established. If you have a single domain of developmental delay, especially like motor delay, I think it's very common, maybe a month or two behind on walking or a month or two behind on sitting up. One of my daughters is that way. Those tend to bounce back pretty quick with isolated therapies. But if you're having multiple domains, we prefer a sooner than later referral.

Of course, anything in regards to concerns for movements, strange movements. Abnormal movements is probably our most common chief complaint outside of developmental delays. So whether it's a seizure risk concern or just a movement disorder concern, I think these are really hard and challenging for anyone. But neurology can kind of give a good weighted eye on. And so, if you don't feel confident that something like a tic or like a clear febrile seizure, please feel free to refer very early.

I think things where there can be a little bit more room to watch and wait would be clear tics, right? Tics are involuntary suppressible, non-rhythmic movements that follow a very common developmental pattern like four, eight years of age. Or like headaches. And so, if the headache doesn't have any red flags, like they're not waking them up at night, they're not having continued worsening vision, they're not having associated fevers, focal neurologic deficits or persistent vomiting, and that's worsening over time, then I think these are things that you can give or kind of use the two strikes rule. Give them an opportunity for lifestyle changes. Give them opportunity for a first-line, either preventative medication. Example for like, you know, magnesium oxide for pediatric headaches, or clonidine for a tic disorder, if it's causing dysfunction. But when they pass that, I think very reasonable for the referral.

Host: Got it. Now, we made some mention earlier of regular developmental screening tools. And so, where do you see those as playing a good role in identifying neurologic concerns, which we kind of already touched on, but where are there limitations on these?

Dr. Justin Coogle: I think the screening tools in regards to catching especially like motor and speech concerns are pretty good. The biggest limitation across the board, at least what's routinely done outside of like research settings, is probably like cognitive. We've been seeing a little bit more patients in sort of the like three to six-year range where it was pretty clear that as they are entering their early elementary school years, that these are kids with lower IQs, that these are kids with worse cognitive processing. And with the continued sophistication and availability of things like genetic testing, being able to historically look at like very specific genes, thinking of things like Fragile X, looking at chromosomal disorders, thinking of things like Trisomy 21 or like deletion syndromes, 22q.

But as we've gone on, we're now able to do whole exomes and now whole genomes, methylation assessments, acetylation assessments, like all of these in a very timely manner. These results can come back within four to eight weeks sometimes. And so, we've had like a few patient's where simply on their cognitive delays, I've opted in for getting some genetic testing. And we've caught neurodevelopmental genetic disorders due to just being behind in their IQ and such.

And so, there's a future where we get better about either, at least like paying attention to or assessing and determining followups to cognitive delays. Right now, it's often mixed with speech and the latest changes to the developmental screening has like separated cognitive from speech as a more clear delineation on the most recent CDC review and developmental screening. And so, that's like one step. So, I think that's kind of like where I see some room for changes.

Host: Yeah. No, those sound really important. So, say, I have done the screening. And I think that we need to refer a patient to you, what are some of the key history exam findings, preliminary workup that would be helpful for a pediatric neurologist to receive upfront as we make that referral?

Dr. Justin Coogle: One, I would say, like anything, I think the most common referral sentences are like "dizzy." My favorite one is getting a referral that said "thumb," and I didn't quite know what to make of that one. I would say that simply in like one sentence, conveying what you're concerned you might be missing, I think helps a lot with focusing my visit. The chief complaint may say like potential concern for seizure. But more accurately, when I talk with the parents in the room, they'll be like, "The patient's uncle, my brother, had a brain tumor and had a seizure from that. Does my child have a brain tumor?" Right? So like, the question was actually deeper than "Do they have a seizure?" The question was, "Do they have cancer?" Just adding that extra little bit of context helps me really focus my visit and address the concerns of the family.

Putting like one to two relevant focal neurologic exam findings, even if exam seemed normal, is helpful. "Reflexes seemed poor, right leg is weak." That's very, very helpful to just help me lock in a little bit better. And just saying no neuroimaging acquired or like no neuro testing acquired, that just also helps me set the stage for what's been done.

I think a lot of pediatricians, especially more so than their adult colleagues in internal medicine, are a little bit more hesitant on acquiring certain neurologic testing. I have many, many referrals where the referral is simply to get an MRI or think about an MRI, where if you have headaches with red flags or global developmental delay, standard of care simply on looking up on UpToDate even, neuroimaging is more than appropriate. And so, don't feel afraid. No one will ever look down on you or blame you for getting a little bit of a overzealous MRI of the brain. And sometimes those results preliminarily can help me say yes or no or guide future testing. And so, it doesn't mean get it all the time. But when it's pretty clear you don't feel like you have to refer to me just to have permission to do that.

Host: Dr. Coogle, thank you so much for sharing your expertise today on recognizing some of these early signs and guiding a thoughtful and timely process for children in the primary care setting. Really appreciate you being on today.

Dr. Justin Coogle: Yeah, thanks for having me. This was a lot of fun.

Host: And as a reminder to our audience, claim your CME credits after listening to this fascinating episode today. You could do so by visiting cmkc.link/cmepodcast. And then, click the claim CME button. If you enjoyed this podcast, please share it on your social channels and check out the entire podcast library for topics of interest to you. I'm Dr. Bob Underwood. And this has been Pediatrics in Practice, a CME podcast.