Dr. DeKorver will review the clinical presentation and characteristics of the most common pediatric epilepsy syndromes within infant, childhood, and adolescent patients.
Thanks for inviting me today. So I'm gonna talk about some common pediatric epilepsy syndromes and then uh epilepsy mimics that are often uh kind of referred to our office. Um, there is a kind of the first part of it is more information and then the last kind of half actually has some videos and if people want to either chime in through chat or um on mute, that would be great, um, as I hope there's a little bit of discussion kind of related to those cases. So, Um, all right. So we can just get started. I do not have any financial disclosures, um, no relationships with drug companies, but, uh, there will be some kind of off-label use, um, mentioned for medications, and that's mostly because most of the anti-seizure medications that we're using in pediatrics, uh, are not kind of formally, uh, FDA approved, but extended down to pediatric use. Uh, the goals kind of, of the, you know, talk today is really to be able to apply a basic framework to classify seizure semiology. Um, there was some new descriptive terminology published, uh, within the past year by the ILAE, uh, which is the International League Against Epilepsy. Uh, and how we talk about seizures. Uh, and then also to identify the, you know, classic clinical presentations of some of the most common pediatric epilepsy syndromes, um, in infants, children, and adolescents. Um, so outline is we're gonna talk about seizures and, uh, defined seizures, epilepsy and classifications, and then, uh, we'll talk some about some video case discussions. So the definition of a seizure has kind of varied over the years, and um the one that I really like is a transient occurrence of signs or symptoms due to abnormal or excessive synchronous activity in the brain. And this really just hints at, right, the, the seizure is the clinical signs and symptoms from that synchronous uh neuronal firing. And if we think about that from a semiologic perspective, the symptoms of the seizure tend to match or should match where we see that activity in the brain. Um, so this is kind of just your, your classic EEG, uh, where we have that synchronized firing. So this is a focal onset seizure that starts in the left anterior temporal region, uh, and then progresses into this rhythmic firing, right? And this is that synchronized spike and slow wave, uh, that we classically think of kind of with seizures, but there can be a lot of other patterns that we see as synchronous activity as well. So the kind of classic definition of seizures from the ILAE prior to this past year was thinking about seizures as either focal onset, generalized onset, or unknown, and then really dividing into motor or non-motor and awareness either aware or impaired. Uh, the new kind of description is still focal or generalized, but it's now consciousness that we're talking about instead of awareness. And one of the reasons is that, um, it's more universally understood kind of what consciousness is versus kind of awareness, and some of it gets, you know, a little bit semantic, um, but ultimately, uh, consciousness is made up of responsiveness and awareness. So a patient could be aware of their surroundings but not responsive, right? Or they could be responding but not recall the event or not aware. Um, and that's why it kind of is broken down into a couple of different pieces. So, to go into that more, the kind of semiologic descriptions that often will get used um relies on simple motor kind of things, right? These are your automatisms, lip smacking, eye blinking, um, tonic-clonic activity versus your more complex motor, which these are your really odd behaviors, right? There are some automatisms that can be really odd, um, ictal kind of snapping or hyper motor activity. Uh, your sensory symptoms, uh, cognitive and language, autonomic, uh, emotional, and then you're indescribable. And the reason that I have these color coded is the way that we're thinking about seizures now is with observable or non-observable manifestations. So your observable manifestations are things like your simple motor and complex motor activity. Possibly autonomic, emotional or cognitive, right? If the patient has confusion or is not kind of speaking appropriately, right, you can observe that, but it could also be non-observable, right? Where the patient says, oh, I didn't understand anything you were saying. Um, but you may not be able to kind of tell that. Uh, same thing with autonomic, right? They may have a heart rate increase, uh, or apnea that you see that is observable if they're on a monitor, or they could have flushing, uh, sweating, autonomic symptoms. But they could also endorse that, well, I feel my heart rate increase, but, you know, there may not be any physical signs. Um, and that's important as we describe, uh, seizures, especially kind of within the, um, the, the focal piece. Right. So the new kind of definition or the way that we would think about these would be a generalized seizure and you would define that as a generalized tonic-clonic or generalized absence, generalized myoclonic, uh, or if it's focal, it would be a focal seizure with preserved or impaired awareness with or without observable manifestations. So, and then the definition of epilepsy, in the way I describe it often to patients is really thinking more about the seizure risk and seizure threshold, but ultimately, you're right, it's just individuals who are at higher risk for seizures, and we can define that a couple of different ways. The most kind of recent recommendations for criteria for diagnosis are at least 2 unprovoked seizures that occur greater than 24 hours apart or one unprovoked seizure with a probability of greater than 60% of another unprovoked seizure. Uh, and that comes from our ancillary data, which is our EEG, MRI, and other kind of clinical pieces. Um, so this is your child who has a single seizure plus an abnormal EEG with generalized discharges or focal discharges that match the semiology of the seizure, uh, or an MRI lesion that would fit with the seizure type. The third way is um diagnosis of an epilepsy syndrome, right? And this may be your child with developmental delay, uh, and autism that gets genetic testing, uh, right? And they have a, um, a gene kind of change that's associated with, uh, an epilepsy kind of syndrome. Uh, you get an EEG and they have abnormalities and even if they haven't had a seizure, you could technically make a diagnosis of epilepsy. Um, we rarely kind of fall to that one. Uh, epilepsy is common, about 1% of the population. Uh, and in younger individuals, uh, it's up to 2.5%. And ultimately, 4 to 10% of individuals will have an unprovoked seizure at some point in their life. Um, the recurrence risk, uh, for individuals with a seizure is 20 to 50%. When you start having abnormalities in EEG or MRI, uh, that's what kicks it up over that 60% to where we get the diagnosis of epilepsy. Um, and then in schoolchildren, uh, if you were to just take 100 children, uh, 3.5% will have an abnormal EEG. But that is not, uh, all epileptiform kind of activity, right? Sometimes we see slowing of the PDR kind of other abnormalities. So, the way that we kind of classify epilepsy now uh through the ILAE is really thinking in a couple of different boxes. And I like this graphic. We'll revisit this as well as a couple of other ones. But, um, we really think first about the seizure type, right? Does an individual have generalized seizures, focal seizures, unknown, or both, right? And then, how does that fit with our epilepsies? Is it a focal epilepsy, a generalized epilepsy, or combined? Uh, and then, right, there are individual epilepsy syndromes where there are kind of diagnostic criteria that you can go into from that. Um, and we think a lot about the etiology, right? Is it structural, genetic? Is it infectious, metabolic, um, you know, autoimmune, unknown. Um, and then we're starting to think a lot more about comorbidities, uh, and our co-occurring conditions like ADHD, OCD, anxiety, depression within these, um, epilepsy types. Um, and the, the classification, right, there are these less specific kind of criteria, uh, right, where you have a, uh, an unknown generalized epilepsy, has a variable prognosis, variable comorbidities, variable etiologies, all the way to our very specific, um, kind of conditions. So, the ones to think about most on the neonatal side are in 3 different bins. You have your self-limited neonatal epilepsies. You have your developmental and epileptic encephalopathies, and then you have more of the etiologic-specific syndromes. And these really do fall into these, um. But we've been starting to parse these out on a gene-specific basis, uh, as we've been testing more and more individuals. So, um, the self-limited neonatal epilepsies are now called uh SELE or S E L N E, uh, it's kind of the acronym for SELFNE. These are all things that are constantly changing. Um, I think it's more important to recognize that there are, uh, a good handful of epilepsies in the neonatal period that are ultimately self-resolved and the kids outgrow their seizures. Uh, and then there are others that, uh, you know, evolve into more of these epileptic encephalopathies and, um, you know, are at risk for things like infantile spasms or, uh, LGS. And having the specific gene can be really helpful in trying to determine, uh, the. direction that the patient may take, but it does not always uh match perfectly where um there's not a perfect genotype, phenotype correlation. Um, and some of these genes are related to both self-limited epilepsies as well as your developmental and epileptic encephalopathies. Uh, when we move into childhood, uh, we think, uh, about a couple of other common conditions or common epilepsy types. Uh, these are the self-limited epilepsy with autonomic seizures or sea loss is the, the newest term for these. Um, this is your former paniatopolis syndrome. Um, and then your self-limited epilepsy with central temporal spikes, uh, formerly benign rolandic epilepsy, and then Becks are benign epilepsy with central temporal spikes. We've really tried to get more descriptive, uh, we're, you know, we're now naming it. This is a self-limited epilepsy, but not necessarily benign. Um, and there's a difference in age range, uh, from where, uh, we typically see these, whereas the paniatopolis or the autonomic seizures tend to be younger than our sex or Rolandic epilepsy, um, typically 3 to 6 versus around 7 to 10. Uh, and they also have different characteristic EEG findings, uh, where one tends to have more posterior high voltage spikes, and then you have the classic central temporal spikes, uh, in your, um, selects. There's also childhood occipital um visual epilepsy. This one's uh COV, uh, much more uncommon, uh, and your photo sensitive epilepsy is also uncommon. So these are the two that I think often, most often present to the, the general pediatric setting and often to the emergency department. Um, these are individuals who may have a single seizure, may have kind of recurrent, um, seizures, and we'll, we'll talk a little bit more about the features of these, um, as we move along. Um, the generalized epilepsies, right? So these, those former ones were more focal. Uh, the generalized epilepsies that we think about in childhood are your classic absence epilepsy, your epilepsy with eyelid myoclonia or Javon syndrome, uh, and then your epilepsy with myoclonic absence seizures. Um, this is your EMATS or DUSA syndrome. Childhood absence, uh, right, has a very, you know, pretty certain prognosis. Many of the kids outgrow their epilepsy. It is a very classic kind of pattern on your EEG. Uh, when you start getting into epilepsy with eyelid myoclonia and, um, DUSA syndrome or EMATS, uh, there's more of an uncertain prognosis. Uh, more of these individuals tend to have, uh, seizures that last kind of longer into, uh, adulthood and can be more refractory to treatment. Uh, the last kind of piece with uncertain prognosis, right, these are DEEs. Um, these are, are developmental and epileptic encephalopathies. Um. It's Uh All right. And then, um, in our kind of pattern of our epileptic encephalopathies, uh, we also have something else that has a new name. Uh, it used to be called, um, ESES, uh, and now the newest kind of term is either EE SWAS or epileptic encephalopathy with slow wave activated spikes or slow spike wave activation in sleep. Uh, or DEE SWASS, which is your developmental and epileptic encephalopathy with um spike wave activation in sleep. Um, there are variants of this like Landau Cleffner. Uh, these kids present with language, uh, regression. Um, and these are kids who, who may be having, you know, plateau in school or kind of significant developmental changes, and we get an EEG and they have, um, a very high spike burden, you know, during slow wave sleep. Um, It's Like I said, the Celex and Clots are most likely the ones that will present to kind of general pediatrics clinic, um, or individuals with regression that ultimately get referred. Um, I would say this is not as common, um, as the number of tests that we kind of do for it. Um, but, you know, we do occasionally identify, um, the DEE SWSS or EE SWSS. And the difference here is whether or not the child has developmental differences prior to the onset of regression. If you have a child who already has cognitive delays, uh, and we see this pattern on EEG, they would fit into the DEE pattern. Whereas if they were a normal child before, um, it would be more of an epileptic. encephalopathy, where if you treat the epilepsy, you would expect that the developmental changes would improve or resolve. Whereas an individual who has pre-morbid delays, even treating the EEG pattern, you do not always resolve the developmental differences. This is another way just to kind of look at it and all of these are available kind of through the ILAE Task Force, um, paper. Uh, I referenced it here. Uh, it's an excellent resource just to kind of look and think about, um, but ultimately, it breaks down the different epilepsy syndromes, uh, based on kind of the age of most common presentation. Um, and I think this is just kind of a visual, a good visual representation of looking at your sea loss or panattopolis, your sex or benign landic epilepsy, your temporal lobe epilepsies, and kind of the average time that we start to, to tend to see these. Uh, they have a similar thing for generalized epilepsy with your, uh, kind of typical childhood absence epilepsy, juvenile absence, um, and then your epilepsy with eyelid myoclonia and others. Um, once again, just kind of breaking it down by, uh, age. Uh, same thing with our progressive conditions, and these ones are more exceedingly rare, right? These kids tend to have severe delays and are, are seeing neurology kind of from a young age, um, aside from those with infantile spasms, right, who often do present, um, to primary care, uh, before seeing neurology. Um, but these are your things like infantile spasms, your DEEs, uh, LGS, um, Dravet, uh, among others. What I'm gonna walk through is, uh, some kind of individual cases and, um, we will, uh, kind of discuss these. So, um, this is a seven year old, uh, typically developing kid, um, you know, does, does overall well in school and he presents for some episodes of staring, uh, and this is kind of what we quiet crowd. Uh, all right, so this is kind of typical of your childhood absence epilepsy. Uh, so these are generalized seizures with impaired consciousness with observable manifestations would be kind of the, the criteria falling into that generalized category. Childhood absence epilepsy is common. Uh, it's averaging, we see it kind of at 4 to 10 years of age compared to juvenile, which tends to start, uh, in later adolescence between 9 and 13. There are a couple of kind of cautions. If you see this type of pattern in kids that are less than 4 years of age, um, especially around 2 years of age, uh, we worry about genetic kind of etiologies, in particular, glute 1, which we would treat differently. It won't respond as well to medications and it's actually treated with a ketogenic diet. So, we'll often do early genetic testing on these individuals if it presents before 4 years of age. Kids are typically normal. They can have some comorbid learning difficulties and ADHD. That's fairly common. And the big thing with absent seizures is these happen numerous times per day, right, but are not always recognized. So, I had a patient in clinic today that, you know, came in for possible absent seizures, but they're occurring 1 to 2 times a week, right? And um that individual seizures were much more consistent with focal seizures with impaired awareness and not absent. So, these should be happening a lot. And, you know, by definition, we will see abnormalities kind of on EEG. They can rarely have generalized tonic-clonic seizures, either from an absent seizure or independent, but it's uncommon. Uh, the typical pattern on our EEG that we see is the standard 3 hertz spike in wave, nice, beautiful rhythmic, kind of generalized discharges. Um, otherwise, we will see aorta, which is a, uh, occipital, um, delta, so slowing that we can see in about fifth of patients. Um, and like I said, by, by definition, we should see these generalized spike in wave discharges. Um, often induced again by hyperventilation. Um, and there are, you know, some kind of variability in the frequency, but 2.5 to 4 Hz is most common, whereas juvenile absence that starts a bit later, it tends to be a little bit faster. Um, like I mentioned, uh, generalized tonic-clonic seizures can occur, but they're not common. Uh, and then our most common kind of, um, actually, let's go through this real quick, the kind of alerts. So once again, if there's, um, mild, uh, intellectual disability, you know, you should be thinking about other things. If it's uh severe or Found a disability that would worry that there's a, a more kind of, um, substantial process kind of going on than just childhood absence epilepsy. Uh, imaging is not needed. Uh, we will occasionally get it, um, but it is, um, normal. And then this is the uh glut1 or SCL-2A1 that we talk about for kind of a young age. Um, treatment, uh, right. So ethosuxamide is kind of our standard first line for childhood absence epilepsy. Um, there was, uh, a large study that compared it to lamotrigine and valproic acid and showed that overall, the effectiveness of ethosuximide, uh, is good and it has fewer side effects than the other two medications. So, this will be our, our first-line go to medication. Um. Occasionally, we will change or add lamotrigine. Uh, sometimes we can add clobazam or Onfi, kind of an, as an adjunctive, uh, agent as well. In super intractable cases, we start thinking kind of out of the box and, um, we'll try all other medications, but that's not common. All right. So here's the next one. So this is a 15 year old. Um, but if you look at how this started, kind of with the initial hand jerking. And if I told you that this was, say, early in the morning, I just woken up getting vitals. So that's classic for your juvenile myoclonic epilepsy, right? And these are generalized seizures um that can progress to impaired consciousness with observable manifestations. So JME often onset late adolescence, early teens to young twenties, um, they typically have normal development, but again can have things like ADHD. Um, myoclonic seizures are common, right early in the morning, uh, and can progress to your generalized tonic-clonic activities. Uh, a, uh, percentage of them, uh, can have a history of things like febrile seizures, um, big triggers, photic stimulation. Often they do have some photic activation, uh, or sleep deprivation. Our EEG, uh, is, uh, irregular, kind of, uh, appearing faster, uh, generalized, um, poly spike in wave is kind of the classic pattern, um, often with fragments that you see during sleep. Um, they can have some hyperventilation, uh, induced generalized discharges. Um, and then the EEG will often start with myoclonic seizures and progress to kind of this generalized spike or poly spike and wave, um, pattern. Uh, treatments for this. We often kind of consider levetietam or Keppra as a first-line. Um, lamotrigine is another good option, especially if the seizures are not incredibly frequent. Um, and then Depakote, but we, you know, use this sparingly in, um, kind of certain populations, especially, uh, our young teenage females. Uh, and often long-term treatment is needed. Um, individuals do tend to have some improvement in seizure frequency, uh, kind of, um, late, uh, 20s, 30s, sometimes into their 40s, but, uh, often does require longer-term treatment. Here's our next one. So that's a 13 year old that presented for uh kind of episodes of irregular, uh, kind of shaking, uh, body movements. Often, you know, kind of around nighttime. But can occur any time of the day. So this is actually more classic of our non-epileptic events, right? So, or PNES, psychogenic non-epileptic seizures, functional seizures, seizure-like events, um, lots of different terms. The term that is preferred, so PNES is OK. The other one that we often will use is functional neurologic symptom disorder with seizures or seizure-like events. Um, I am not a huge fan of using seizure in the definition because I think it gives A kind of inappropriate diagnosis, right? Because it's not epileptic, it's not seizures. I, I really do like the functional neurologic symptom disorder with events, um, description. Often late adolescents, teens, and young adults, um, The key here is that these can be really difficult sometimes to discern exactly what they are, and EEG and sometimes admission to the EMU to capture the events, uh, I think is most helpful. So if there's ever questions, you know, I would prefer seeing these patients and getting an EEG. It can be really helpful kind of for the evaluation, but it is not, it's no longer a diagnosis of exclusion. So, FND uh can be diagnosed now. You don't necessarily need to get an EEG and an MRI, um, or further workup if it is kind of classic. And these movements tend to be more irregular, often kind of side to side movements. They're asynchronous, arrhythmic, often have things like pelvic thrusting. Um, eyes are often more closed, uh, whereas they tend to be open or deviated in epileptic seizures. And the vocalizations are often more complex. They can have crying, screaming, uh, versus more of that gluteal kind of monotonous groan that you have with epileptic seizures. Other things, tongue biting and incontinence are uncommon, but they, they can occur. Um, and these are often more, um, You know, there's often a short or absent or very vague postictal state. Patients will often say, oh, I don't remember this and this, but I remember this, um, which is, you know, would be atypical for an epileptic, um, postictal state, uh, where there tends to be more of a, a diffuse kind of loss or recollection of the event. Um, and then these, you can occasionally or, you know, distract or abort them with, um, stimulus. Uh, and treatment for PNES really is multi kind of disciplinary, often requires, um, work with therapy, uh, often physical therapy, occupational therapy, depending on kind of the extent, psychology, uh, neurology, um, and then sometimes, um, psychiatry as well, uh, where, you know, agents for kind of anxiety, depression, and mood can be helpful in conjunction with therapies at times. All right. And I want to kind of compare that. So this is a 14 year old, uh, similar kind of story presented with episodes of shaking, most commonly, uh, from sleep. So, if we watch this event again, you can see that it starts with an arousal. He starts blinking. Knuckle cracking. repetitive blinking with the head turn, and it just moves on to his side. Bilateral head shaking. Large, rhythmic, kind of writhing movements. And he sets up and some repetitive bouncing. Right, so this is why, you know, things can be, I think, really challenging when you get descriptions of events because this is actually an epileptic seizure. So this is a frontal lobe seizure. This would be considered a focal impaired consciousness with observable manifestation seizure. And these often occur out of sleep, often have onset in adolescents to late teenagers, can be inherited due to autosomal dominance changes in nicotinic receptors, among some other genes, and these are often complex. They have bizarre movements that can be rhythmic, but sometimes they're not. It looks more like thrashing. They have jerking, kicking, sitting up, hand flapping, some vocalizations. And the important part is to try to distinguish them from things like parasomnias or non-epileptic events. Um, one of the things is that, uh, seizures tend to be shorter than some of your parasomnias and often occur more in stage 2 sleep. Um, which we are able to kind of look at on EEG, but, you know, the ultimate answer is to try to capture them and look. So, you know, if there are odd stereotyped events that kids are doing, um, I think it, you know, frequently or always warrants kind of further evaluation. Um, and frontal seizures, frontal lobe seizures can be very, very bizarre. Uh, and it's not uncommon to have individuals diagnosed with other kind of things. Um. Prior to getting that diagnosis of epilepsy. Uh, and then even sometimes requires multiple EEGs because there tends to be so much myogenic artifact that sometimes it can be difficult, um, to identify. Uh, treatment for these, we really are using our focal medications, uh, so things like oxcarba. Mirtazapine, glucosamide, Vimpat, uh, or lamotrigine are all kind of good options, um, to start with. And if these patients are refractory or there's clear lesions on MRI, these are patients who can be really good candidates for uh evaluation for surgical intervention for epilepsy. Um, so, in general, if they've failed a single focal agent with a lesion or they failed multiple focal agents is when we would start thinking about surgical evaluation. All right. This is a seven year old uh who has lots of kind of abnormal movements. So this, uh, very complex movements, right? More kind of right side, some eye rolling. It is stereotyped in a sense, but it's pretty variable and kind of where it's occurring. Right? If you look, you see similar patterns occurring on one side or the other. Right, but these, uh, are, are ticks, right? And I showed you kind of an extreme example. Often, these are much more simple, right? Things like eye blinking, facial grimace, head, shoulder shrugs, uh, vocal, um, with kind of throat clearing, grunting, humming, or sniffing. Um, corporalalia or the use of inappropriate language during a tic, uh, is, is actually very rare and more often is associated with functional neurologic symptom disorder than it is with kind of true tics or Tourette's. The key here is that these are sudden, they're repetitive, have onset in school-age kids, and, you know, as they get older, sometimes they can have that preceding urge, but they do not always kind of have that. And Um, right, if it's for more than a year and they've got kind of multiple types, onset less than 18, they can be diagnosed with Tourette's. And we see a lot of patients, um, for, for tics, uh, in epilepsy clinic as well as general neurology. Um, and I, I think, You know, based on what they look like, the frequency, I will often get an EEG if there's kind of any concern, um, that, you know, there's something that doesn't really fit with the, with the tech. But typically, the story is fairly convincing and we really only tend to treat Treat these if there is kind of significant distress for the patient, um, starting with, you know, behavioral, uh, things like therapy, and then using our, uh, clonidine, guanfacine, and really for intractable tics, if they're having severe impairment, uh, we'll think about things like risperidone. All right. If we compare that kind of last case with, you know, the, the bilateral kind of jerking, this is uh uh another kind of teenager. Right, so this starts on the right. Some individual kind of jerking. Chronic activity in the hand with gaze deviation to the right. And to the right, and it becomes more regular and rhythmic as it goes, right? So this is your focal onset seizure. So this would be focal unknown consciousness. It's not clear if she's responding yet. It was a very kind of brief event, um, with observable manifestations kind of being the, the jerking movements of the arm. And the key with focal seizures is that, you know, we expect that the area of the brain that is involved is what's driving the, the semiology and, you know, seeing how the seizure starts can be extremely helpful for us, uh, when we're thinking about localization and next steps for treatment. So, we always encourage families, you know, to get videos as much as possible of the events. I would much rather review 10 videos of an event, you know, um, than try to kind of start a medication not knowing what things look like. So, um, it's very helpful and, you know, I, If you're seeing a patient who's being referred to neurology, um, I think that's one of the things that would be really helpful if you could relay is try to get videos because I always love it when patients come in and I can review the video on our first visit. Uh, it makes it, you know, very, very helpful in thinking about next steps. Um. You know, and we often think about the, the homunculus, uh, right, of, OK, if seizure starts with kind of leg jerking, we think of it being more kind of midline, you know, versus kind of in the hand area or face. Um, in real, in reality, there's, you know, some variability kind of with that. Um, but we also have to remember that focal seizures can be non-motor. Uh, and I have had a few patients that have presented with recurrent. Uh, non-motor episodes, right, that rising epigastric sensation or abrupt onset of panic and anxiety with heart racing and sweating, um, you know, those autonomic symptoms that have focal seizures coming from deeper areas like the insula. Um, so the key, right, is that, that kind of stereotyped the, um, piece coming out of nowhere, uh, without a good kind of explanation. Uh, I think that always warrants kind of further evaluation. Um, again, we use medications targeted towards focal seizures, sodium channel blockers like oxcarbazepine, leucosamide, and lamotrigine, um, as well as Keppra is not a bad, uh, kind of start or breviracetam, which is just a more specific SV2A, um, targeted medication that, um, has kind of fewer behavioral side effects to Keppra. Um, in reality, I think it only really benefits about 25% of patients, but, um, it is worth a trial if you have behavioral effects on Keppra. All right. Um, another one here, we have our 3 year old, uh, who's presenting with episodes of some hand and arm movements. We watched that again. Complex, bilateral. Stereotyped but kind of writhing, not super fast jerks, right? A little bit more kind of slow. If you look at the fingers, right, there's kind of that almost like slight writhing positioning of the, of the hands, right? And this is typical of our stereotypies that we see. Um, these can occur in, uh, children without, uh, any other developmental concerns, or our primary stereotypies. We often more frequently see these in individuals with other associated kind of neurodevelopmental conditions, things like autism, kids with visual impairments or auditory impairments can often have, uh, stereotypies as well. Um, these are rhythmic or semi-rhythmic. They do have a predictable pattern and kind of location of where. They occur. They're involuntary. They tend to be seconds to minutes, um, and often can be provoked with things like excitement, stress, focus, uh, or boredom. And, you know, these are other ones where it helps to see and gathering video of these, um, is, um, very helpful for us. Um, but these are, are very common, often do not require kind of any sort of treatment, um, you know, and, and just require a lot of reassurance to, to family. All right. And then there's gonna be a bunch of videos kind of in a row. Uh, this is our younger kids, so 6 month old, uh, with some, uh, movements. So I wanted to give a bunch of different flavors, kind of different ages. So these are our shuddering spells. So these are benign non-epileptic events typically kind of begin in infancy, but we often see through toddlerhood. Um, they're rapid, kind of tremulous, shivering-like movements, often involve the head, shoulder, and extremities. These can occur hundreds of times per day. Um, and they're often preceded by particular events, right? So, I don't know if you noticed, but many of those children were kind of sitting at a table or kind of, um, you know, focused or doing something like eating, and that's a common time we see it or during. Play. The EEG, if we capture them is normal during these events, and there's some postulated link to adult onset or central tremor, but this is not, you know, fully supported. So, but again, these are benign. Kids tend to outgrow them, um, but they, you know, they are worth kind of seeing and getting getting videos, especially kind of of these events. All right. So, um, kind of the last, uh, case here, uh, to look at. So this is a, I want you to compare that with the seven month old, um, that is presenting, uh, with some abnormal movements. And we've also seen, you know, the kid is having some difficulty, uh, sitting for the last week. So At times, fairly subtle, but, you know, other ones are more pronounced, has extension of the bilateral extremities, subtle kind of head drop, often kind of eyes opening. Um, not particularly in this patient followed by a lot of fussiness. But if I just kind of scroll through, right, you can see that there's one. There's one There's one There's one, right? It's clustering. We see kind of this cluster of these events, and this is really classic of your infantile spasms. And on EEG, right, we see a hips arrhythmia, so this disorganized high amplitude background with multifocal epileptiform discharges. Um, and, you know, this is kind of your classic pattern for infantile spasms. And the, the key here is that infantile spasms is an epileptic encephalopathy, at least idiopathic infantile spasms. So, these, these kids should have other changes, either stagnation of development, regression of skills, um, change in demeanor, right, where the kid is happy and playful and all of a sudden is just less interactive, right? There should be a component of encephalopathy to that pattern. Um, now, you can have isolated myoc. Clonic jerks. You can have, you know, myoclonic epilepsy that presents with similar movements. You can have epileptic spasms without hips arrhythmia, but the true infantile spasms is a, a epileptic encephalopathy, and there has to be that encephalopathic component with the seizures. First-line treatment is still steroids or ACTH. And then if TSC are structural, um, we will use vigabatrin uh in adjunct or first-line in the case of tuberosclerosis. The last thing I want to end on before kind of um giving some time for questions, uh, is the role of genetics within epilepsy. Um, so this is actually one of my particular areas of interest and uh something that we have a greatly kind of expanding appreciation for and, um, We are much more likely to, to kind of send genetics early. So it is estimated that 30 to 40% of all epilepsies, uh, have a genetic etiology. Whether that's monogenetic, uh, or polygenic, um, is, you know, uh, differs. Um, but overall, there's thought to be that over a third, um, do have some sort of genetic, um, underlying, uh, etiology, and this is likely even higher. In our pediatric population that don't have as frequent of kind of structural abnormalities like tumors or strokes um compared to some of the adults. The key is that if there's co-occurring developmental delay, autism, congenital anomalies of any kind, or a family history, the likelihood that there's a genetic etiology is much, much higher. And these are the children that we really need to be safe. testing on and from an early basis. But we also want to think about it in our kids with cerebral palsy, perinatal strokes, kind of other etiologies because there may be an underlying genetic risk factor for why they have these um syndromes. And, you know, the recommendation now is to send whole exome sequencing for any individual with epilepsy that does not have a clear kind of explained etiology. And this is the reason is that the number of genes that we are identifying in association with epilepsy is exponentially growing, right? Where initially we knew about channelopathies and Dravet, uh, and then all of a sudden as we got into next generation sequencing, we're now identifying all of these individual genes that can be associated with epilepsy and other developmental differences and Uh, as we learn more about these, our therapies will get better. Um, we also have new novel therapies that are being developed, um, for specific conditions, right? So Dravet, there are now, um, anti-sensolli and nucleotide therapies and, uh, gene therapies that are being developed, um, along with other conditions. Uh, so, kind of getting that early testing is gonna be important for, um, being able to funnel patients to the right kind of, um, environment. So, our yield of testing, like I said, a whole exome or whole genome sequencing really gives us the best yield of explaining the case in up to about 50% or 5% of individuals. Gene panels can be OK in select individuals, um, but really, we're, we're defaulting to exome and genome sequencing now. And CMA, if there's a lot of other comorbid, um, kind of, uh, or, uh, Like anomalies, right? If there's a lot of midline defects, things like that, looking for deletions and um duplications can be helpful. These are just some genes associated with different kinds of conditions that have been identified. All right, it's, um, and then we often think about these genetic epilepsies, absence epilepsy, juvenile absence, myoclonic epilepsy. We think that there's underlying genetic causes for these, but they're not likely monogenic. Um, so with time as we get more data, my hope is that we can understand how small changes in multiple genes put individuals at risk for these types of epilepsy. Um, but right now, we're still, uh, in stages of trying to understand that better.
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