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Bill Klaproth (Host):  So, when is jerk or a twitch just a harmless reflex and when could it signal a potentially devastating seizure? Let’s find out and talk about detecting infantile epilepsy with Dr. Sarah Weatherspoon, Pediatric Neurologist at Le Bonheur Children’s Hospital and Assistant Professor of Pediatric Neurology at The University of Tennessee Health Science Center.

This is the Peds Pod by Le Bonheur Children’s Hospital. I’m Bill Klaproth. Dr. Weatherspoon what is infantile epilepsy and how does it differ from other forms of epilepsy?

Sarah Weatherspoon, MD (Guest):  So, infantile epilepsy means seizures that happen in the first year of life in babies. And this is different from other kinds of epilepsy because there are very specific kinds of seizures such as infantile spasms that can occur during that timeframe.

Host:  So, then what are infantile spasms? If you could explain that to us and how is it different than other forms of infantile epilepsy?

Dr. Weatherspoon:  Infantile spasms are seizures that don’t look so bad from the outside because they are small movements like little forward crunches of the body or little movements where the arms may jump outwards and they last only one to two seconds, but they tend to happen over and over and over. And what’s going on at the level of the brain that we can’t see is that these seizures are actually disrupting normal development.

Host:  Well that sounds very concerning. So, why else is infantile spasms so serious?

Dr. Weatherspoon:  So, again, even though the seizures don’t look so bad, we know that if they don’t get the proper treatment and get that treatment quickly that there is a process going on in the brain that’s keeping that child from going on to have normal development. It disrupts normal brain function in babies. Some babies may have seizures where in between, they are normal, and the seizures can be treated, and they go on to have normal development despite the seizures themselves. But in this case, the spasms themselves are almost like a fever. They alert you to something else may be going on such as in the case of a fever like an infection that needs to be treated. So, this seizure is that red flag that says heh we need to take a closer look and we need to get the right treatment on board quickly.

Host:  So, babies do move around a lot and they jerk and twitch their arms and have those startle reflex. How can you tell the difference between an infant’s normal reflexes versus spasms and seizures?

Dr. Weatherspoon:  So, this can be really hard to tease out tell the difference between. One important thing to know is that all babies are born with a normal reflex and that’s called the Moro Reflex. And this is when if you see a baby look startled and their arms jump outwards; that’s the normal reflex and it usually happens between birth and then it starts to go away around three to four months of age. With infantile spasms, sometimes they can look kind of similar to that reflex, but spasms usually start around four months of age when you should be seeing that Moro Reflex go away.

So, the timing is really important. Also, the clustering pattern that infantile spasms again a type of seizure, how those can cluster together back to back, over and over even if the baby is not being startled. So, that’s another way to tell the difference between a normal baby reflex which is usually triggered by something like maybe the door slamming versus an infantile spasm which just happens out of the blue.

Host:  So, look for the clusters, the repetition of the jerking and twitching especially after three or four months. So, it sounds like time is imperative. If you notice this, it sounds like you should get to your pediatrician as soon as you can.

Dr. Weatherspoon:  Absolutely. Sometimes it still could be something else that’s not as serious. For example, reflux can sometimes cause similar types of movements in babies but if they are still – if they are having that pattern and it’s at that time point in their life; they absolutely should be evaluated by a pediatric neurologist to make sure that we are not missing something more serious like infantile spasms.

Host:  So, since this does seem potentially hard to diagnose, is it normal reflexes or is it not; if you bring your baby to the pediatrician and he or she says yeah, nothing wrong here, everything is fine; how do you know if you should get a second opinion?

Dr. Weatherspoon:  I think that pediatricians are wonderful and they see a lot of children and so, sometimes things that usually often do end up being normal could get overlooked and so I think in my world, I trust parents and so, if mom or the dad are really worried, if they just need that confirmation that okay maybe nothing is going on but I really need to know that for sure. Then I think they absolutely should find their way to a specialty provider who could give them either that peace of mind or give them that diagnosis that they are worried about.

Host:  So, then how do you diagnose this and ultimately figure it out?

Dr. Weatherspoon:  One of the keys to figuring that out is something called an EEG, an electroencephalogram or sometimes we call that a brain wave test. That’s really the critical test that babies need if we are worried about infantile spasms. In spasms, you are going to see abnormalities. If it’s something normal like reflux or normal baby movements; probably that EEG is going to be normal.

Host:  Good point. So, if the EEG does show that abnormality and it is infantile spasms; what are the treatment options?

Dr. Weatherspoon:  So, the types of medicines that we use to treat these kinds of seizures are quite different than your standard seizure medications. One of the main medications that we use at our center is called Acthar gel or ACTH. That’s a hormone that is given as an injection, kind of like a vaccine for about four weeks. The other medication that we often use is a medicine called vigabatrin. That’s a medication that babies can take by mouth. And what we are finding out as more and more babies are being treated is that they seem to do the best if they take both of them at the same time rather than just one or the other.

Host:  Okay. And how do these treatments work then? Obviously, they help rewire the brain where there is an abnormality?

Dr. Weatherspoon:  As with a lot of our treatments for seizures in general, sometimes we don’t know the exact reason that it seems to work but the research continues to bear out over the past 60-70 years that these are really the optimal treatments. We do think that somehow, like you said, it may somehow rewire the brain or change the brain’s connectivity meaning how the brain kind of talks to itself and resets it so that normal development can resume.

Host:  And what are the risks then if infantile spasms are left untreated?

Dr. Weatherspoon:  So, unfortunately if children don’t get the proper diagnosis or proper treatment in a timely fashion; this can result in permanent development regression or stagnation. It can also lead to really more difficult to treat seizures down the road, the seizures that people usually think about when they hear about epilepsy, big jerking type seizures or sometimes they are called Grand Mal seizures. So, if spasms don’t get treated; they may eventually go away but usually will be replaced by something much more severe.

Host:  So, let’s stick with treatment. Le Bonheur now has an Infantile Epilepsy Center. What does Le Bonheur have that makes it particularly suited to diagnosing infantile epilepsy and a subset of that, infantile spasms?

Dr. Weatherspoon:  So, first we have pediatric epileptologists meaning people who specialize in kids with seizures such as myself and having a specific interest in this particular diagnosis, a heightened awareness where if I hear about a baby like this, I’m going to do everything I can to get that baby in to see me as quickly as possible, ideally within 48 hours. In addition, the benefit of having a center is that we bring all of our specialists together, what we call a multidisciplinary approach. So, we have excellent pediatric neuroradiologists, who have special imaging techniques they can use. We have neurodiagnostics such as a device here called the Magneto encephalogram. We also have other specialists that – because we realize that babies have special needs. Things like eating and growing and so we have incorporated our dietician and a speech therapist into our clinic to make sure that the entire health of that baby is being addressed and not just the seizures.

Host:  And what are some of the other disciplines in this multidisciplinary approach?

Dr. Weatherspoon:  Some other disciplines that we’ve incorporated into our multidisciplinary center include genetics, looking for any genetic cause for spasms, neuroophthalmology meaning looking at any abnormalities in the eyes or the vision pathway that could clue us into a diagnosis and to monitor a child’s visual development. Our general pediatrics team is very involved again, making sure that we are taking care of all the other general baby issues that can come up in this age range. At le Bonheur, of course we also have access to many other pediatric specialists such as cardiology or nephrology.

Host:  I could see where that multidisciplinary approach number one, is really time consuming when time matters and very comforting for parents to know. So, Dr. Weatherspoon, do we know what causes infantile epilepsy and infantile spasms?

Dr. Weatherspoon:  So, there can be a host of different kinds of causes and we tend to group them together. Genetics or abnormal genes are often a cause that we find. Second, sometimes a baby’s brain may have formed differently, and those malformations or abnormal formations of the brain can cause spasms and seizures in babies. Additionally, any kind of injury to the brain that happened early on whether when the baby was still growing in the womb or right around the time of birth, if the baby didn’t get adequate oxygen to the brain or if there was a stroke shortly after birth. All of these kinds of things could potentially set a baby up to develop spasms down the road.

Host:  So, speaking of down the road, let’s look way down, long-term outcome for a child that does have infantile spasms, if caught and treated in time; does that child have a chance to develop normally then?

Dr. Weatherspoon:  So, two answers to one question there. So, part of it depends on what the underlying cause is or if there has been significant brain injury like I mentioned in an earlier comment; there may be ongoing developmental issues. But regardless even of that, if a baby is treated in a timely fashion, and we define that as certainly less than a month and ideally even less than a week after spasms start; that gives them the best chance of continuing to make developmental progress and with many children who may not have one of those underlying injuries; they may go on to have normal development and not have any further seizures. Not need any further medications once we’ve completed our course of treatment.

So, that time to treatment is really a critical factor.

Host:  So, that’s a really important phrase, time to treatment is very important. If you are a parent listening to this and you have a question, you are unsure; go see your pediatrician. Absolutely don’t delay. Dr. Weatherspoon, this has been really interesting. Thank you for your time today.

Dr. Weatherspoon:  Yes, thank you so much.

Host:  That’s Dr. Sarah Weatherspoon, Pediatric Neurologist at Le Bonheur Children’s Hospital. And to learn more please visit the Neuroscience Institute at Le Bonheur.org. And be sure to subscribe to the Peds Pod in Apple Podcasts, Google Play or wherever you listen to your podcasts. You can also check out www.lebonheur.org/podcast to view our full podcast library. And if you found this podcast helpful, please share it on your social channels. This is the Peds Pod by Le Bonheur Children’s Hospital. Thanks for listening.