Infantile Spasms – PediaCast 281
Dr John Mytinger joins Dr Mike in the PediaCast Studio to talk about infantile spasms. The condition is rare, but moms and dads and doctors must know the signs to avoid a delay in diagnosis and reduce the risk of permanent and severe developmental injury. We’ll also cover safe sleep for babies!
- Infantile Spasms
- Safe Sleep for Babies
- Physician Direct Connect: 614-355-0221 or (Toll Free) 877-355-0221
- The Infantile Spasms Clinic at Nationwide Children’s
- Child Neurology Foundation – Infantile Spasms
- CONNECT NOW with the INFANTILE SPASMS CLINIC at Nationwide Children’s
Announcer 1: This is PediaCast.
Announcer 2: Welcome to PediaCast a pediatric podcast for parents. And now direct from the campus of Nationwide Children’s here is your host Dr. Mike.
Dr. Mike Patrick: Hello everyone and welcome once again to PediaCast. It is a pediatric podcast for moms and dads. This is Dr. Mike coming to you from the campus of Nationwide Children’s Hospital. We’re in Columbus Ohio it is episode 281 for March 19, 2014 and we’re calling this one Infantile Spasms and we’ll get to exactly what that is in just a moment. First I want to welcome you to the program and finally my cough is gone and it’s amazing. It was there for about a month and then one day literally overnight it’s gone.
I’ve mentioned this before but still I can’t really get over it. It’s pretty crazy the way that it happened. A listener writes in asking about cough that last for three to four weeks and I go to the usual spill, there’s the possibility of asthma, or allergies, or pneumonia, or pertussis, or a foreign body especially in kids but the most common reason is viral infection that destroys the cilia cells that line the trachea. These cells normally move mucus and bacteria and other foreign invaders up the trachea and out to the lungs. But when these cells are destroyed by a viral infection the body resorts to coughing to protect the airway and the cough last three to four weeks which is about how long it takes to clear the viral infection and make new cilia cells. It all sounds good on paper right? It makes sense but let me tell you when you’re living through those three to four weeks of coughing it’s not fun.
It’s frustrating, it’s annoying, you just want it to go away. And fortunately it did and pretty much overnight, of course I have to get through several PediaCast episodes and if some of you out there like, “What, he was coughing every five minutes?” We had to edit out the coughs and stitch things together in post-production and it was a lot of work. But I got through several PediaCast episodes we had to do a video shoot for Working Mother magazine and a radio interview. I was able to prolong the time that I could go without a cough by using honey. I mean honey really was my friend, you swallow it slowly, it coats the back of the throat and it helps take that tickle away and I’ve told people this for very long time that honey’s a good thing to use but I’ve never had to use it for such a long period of time. But it did a great job for a little while anyway, not nearly long enough, usually within a half an hour then that little tickle would come back. So it’s a good thing you can’t overdose on honey, you just gain weight.
Remember I do want to remind you no honey for kids less than 12 months of age because you worry about botulism. Also if you or your child find yourselves in the midst of a three to four week cough make sure you do see your doctor because you want to make sure it’s not one of those other things that I mentioned that was going on. Did I go see a doctor? No, I guess I treated myself, does that count as seeing a doctor? Probably not. There were some consequences at treating myself which is a long and crazy story. My point here now is that there is hope. Three to four weeks of coughing is not fun but then it ends and pretty much overnight and now I can finally record the show without that constant tickle when I talk and editing out the cough and stitching it all together in post-production. What are we talking about today? It’s another nuts and bolts to show dedicated to a rare but serious problem in babies. It’s important information for parents because even though the condition is rare it does happen.
Nearly every community across America it happens, and around the world and the diagnosis is often delayed because parents aren’t clued in to what’s going on. And the delay in diagnosis is regrettable because in some cases the longer the symptoms last without intervention the more likely it is that permanent developmental damage can be done. So this is an important podcast for moms and dads with babies at home. If you don’t have a baby at home it’s still a good listen because all of us know somebody with a baby at home and you’ll be able to share the knowledge you learn today with that family. The condition we’re talking about is infantile spasms and I have a great studio guest joining me to talk about this. Dr. John Matsinger is a pediatric neurologist at Nationwide Children’s Hospital we’ll get to him in a moment. First I do want to remind you the 700 Children’s Blog, it’s at 700childrens.org and some recent topics on that Is Raw Milk Safe? Written by yours truly and we’ve talked about raw milk before in this program but I did include some additional information on the blog post so you may want to check that out.
Congenital Heart Disease, a parent wants you to know that you’re not alone. Just a look at congenital heart disease from the parent’s perspective. Olympic Dreams Versus Reality some sage advice from our sports medicine folks. The Winter Illness Toolbox Every Parents Needs, and Massage Therapy and The Importance of the 20 Second Hug. Be sure to check out our hospital’s blog at 700childrens.org. Another quick reminder, PediaCast is your show so if you do have a question you’d like to ask, or a topic you want to suggest, or you want to point me in the direction of a news article, or a journal article just head over to pediacast.org and click on the contact link. I also want to remind you the information presented in PediaCast is for general educational purposes only, we do not diagnose medical conditions or formulate treatment plans for specific individuals.
Dr. Mike Patrick: Alright we are back Dr. John Matsinger is a pediatric neurologist at Nationwide Children’s Hospital and an assistant professor of pediatrics at the Ohio State University College of Medicine. Before joining us in Columbus Dr. Matsinger completed his pediatric and child neurology residencies as well as his clinical neurophysiology and epilepsy fellowships at the University of Virginia. His top clinical interest is treating young children with infantile spasms and in fact Dr. Matsinger serves as director of the infantile spasms clinic here at Nationwide Children’s. That’s our topic today infantile spasms and it’s with a warm PediaCast welcome that I introduce our studio guest Dr. John Matsinger. Welcome to the program.
Dr. Matsinger: Thank you Mike.
Dr. Mike Patrick: We really appreciate you stopping by. Have you ever had one of those coughs that lasted like three to four weeks and wouldn’t go away?
Dr. Matsinger: Absolutely.
Dr. Mike Patrick: It’s just the most annoying thing and sometimes it’s the parents that keeps coughing and you know you’re the pediatrician and they’re like, “Hey Doc have you ever had a cough that lasted this long?”
Dr. Matsinger: Well we have three kids so it’s common to my house.
Dr. Mike Patrick: Then just as one’s getting over it then the next one, next thing you know it’s been six weeks of somebody coughing. Any helpful hints?
Dr. Matsinger: We do use the honey though.
Dr. Mike Patrick: I found that that work well, it just didn’t last very long. So let’s talk about infantile spasms. I guess a good place to start would be just a brief overview, just sort of define the term what is an infantile spasm?
Dr. Matsinger: Well infantile spasms is a type of seizure and as the name states it typically happens in infants. Before I tell you more about it I just wanted to mention for our listeners that a lot of people don’t know what’s seizure are and seizures I like to describe to families is an electrical disturbance in the brain, I even call it an electrical storm that happens in the brain and it causes variable symptoms depending on what type of seizures you have.
In the case of infantile spasms if you have this electrical storm is characterized by sudden flection or extension, or mix flection extension of the neck, trunk, arms, and legs often times taking on the appearance of a crunch or sit-up and it’s very brief, it’s very fast and it often is obvious but it can be very subtle and it can involve just mild contraction of the abdominal muscles or subtle movements of the head, shoulders, or eyes and I want to emphasize if you have this then your child has epilepsy.
Dr. Mike Patrick: Now there aren’t very many of this but this would be considered a neurologic emergency. I mean this is something that if you have this you really want to get your child seen right away.
Dr. Matsinger: We like to get the kiddos diagnosed right away to get the treatment started immediately and as you had mentioned in your introduction if we do get things started right away and we are successful in our treatment the outcome’s going to improve.
Dr. Mike Patrick: I want to re-assure some parents because I know often neurology clinics can be pretty busy and so other seizures and it’s going to depends on the individual clinical situation but other types of seizures like in older kids it may not be a neurologic emergency. I mean there’s some precautions you want to take and you might get prescribe a medicine to stop the seizures but it may be a few days before you get in to see a neurologist and have an EEG done and possibly an MRI and try to figure out what’s going on. You can tinker and take a little time, but with this, this is something that you need to go to an emergency room and connect with a pediatric neurologist fairly quickly. Now how common is this condition?
Dr. Matsinger: It’s about 1 in 3000 live births will ultimately develop infantile spasms.
Dr. Mike Patrick: I mean it’s not common but it’s not exactly rare either. So this is something that’s out there.
Dr. Matsinger: And I sometimes will say it’s not very common but it’s common enough for us to have an infantile spasm clinic where we concentrate on the treatment of these very special children.
Dr. Mike Patrick: Is there a particular age where you most typically see this obviously in infants but what in terms of new born, six months old, 12 months old?
Dr. Matsinger: Greater than 90% of the time the onset is between three and 12 months. The peek time of onset is between four and seven months with an average at six months an there’s a peek right at six months. It becomes uncommon after a year but it can happen, it’s especially uncommon after 18 months of age but again we do see it but almost all kids being at true infantile period.
Dr. Mike Patrick: Do you see any difference between boys and girls? Does it equally affect boys and girls?
Dr. Matsinger: Largely it’s similar between the genders.
Dr. Mike Patrick: Is that the same with different races or ethnic groups? And this is it all over the world or more in developed countries, or under developed countries?
Dr. Matsinger: It is all over the world and in every country it affects all human beings equally.
Dr. Mike Patrick: Does there seem to be a genetic component to it? Does it run in families, or just sporadic?
Dr. Matsinger: There are rare cases and I’ve seen this where a child will have a sister or a brother with infantile spasm so it can happen but it’s pretty rare. But there are certain genetic conditions that can run in families that make your risk of infantile spasms much higher.
Dr. Mike Patrick: And we’ll talk about some of those here in a moment. What exactly causes infantile spasms? You talked about it being an electrical storm in the brain that causes these crunches, what causes this?
Dr. Matsinger: Was the case with epilepsy anytime that you disturb a normal electricity that’s present in the brain, that electricity can become out of control and again I call it electrical storm and you can have a seizure.
In the case with infantile spasms there are numerous causes greater than 200 different types of associated conditions with infantile spasms. Really anything that causes some kind of insult or stress on the brain can potentially lead to infantile spasms. Just to give you an idea so for example a very common cause of infantile spasms would be something called Hypoxic Ischemic Encephalopathy or HIE. That happens in the perinatal period where there can be stress or decrease oxygen and blood flow to the brain and there’s injury that’s related to that and on average six months later you develop infantile spasms all from an injury that happen quite a few months ago.
Dr. Mike Patrick: And so that would be something for instance you say perinatal during the birthing process a baby has a lack of oxygen for a period of time and then that’s going to cause the insult that then can later lead to infantile spasms.
Can infections do the same thing? So if like a baby has an infection around the new born period so they have HSP, or herpes, or Cytomegalovirus (CMV) that sort of thing?
Dr. Matsinger: Anything, any kind of infection that would involve the brain some kind of what they call encephalitis a viral infection, meningitis. So there are numerous infections that can ultimately lead to infantile spasms. Numerous other examples though, for example stroke, brain malformations these are all relatively common in my clinic. There are also children though who have absolutely normal brains on the brain MRI’s, brain MRI’s normal and they present to us with infantile spasms and you know we don’t figure out why they have infantile spasms but that can actually be a good thing in terms of the developmental outlook.
Dr. Mike Patrick: So when you do see infantile spasms and you can’t identify one of this other things those are on average usually generally speaking treated more successfully than those who do have an underlying problem.
Dr. Matsinger: About 70-80% of the time we figure out the cause of the infantile spasms. Usually the answer’s on the brain MRI but 20-30% of the time we do not know what is causing the infantile spasms and in that setting more of those children with an unknown cause normal brain MRI do better with treatment and have better developmental outcomes than those with known cause.
Dr. Mike Patrick: When you’re talking about you see you can tell from the MRI so then these will be structural kind of things that are wrong with the brain the kids are just born with.
Dr. Matsinger: Exactly right, either from a stroke, or a brain malformation, or something like that that ultimately they have to spasm.
Dr. Mike Patrick: Cortical dysplasia being one of the common ones. Why genetic conditions are associated with infantile spasms?
Dr. Matsinger: Well one particular genetic condition called tuberous sclerosis is commonly associated with infantile spasms. There’s another one down syndrome, many of those children ultimately develop infantile spasms as well. So there are several genetic syndromes that can lead to infantile spasms.
Dr. Mike Patrick: I guess the next question would be how is it that such varied conditions, I mean we’ve talked about insults from not getting enough oxygen, infections, structural abnormalities, genetic conditions how is it that such a varied conditions all lead to what we see clinically as infantile spasms?
Dr. Matsinger: In the context of infantile spasms the term eulogy or cause. It’s used to describe conditions associated with infantile spasms but do not necessarily suggest a direct cause of the spasms themselves.
So in other words we know that there’s some kind of injury or stress on the brain but we don’t know how that injury or stress specifically causes the infantile spasms. It’s a bit of a mystery there’s a lot of great work that’s been done looking into that but there’s still remains uncertainty about how all these varied conditions can ultimately lead to a final common pathway of infantile spasms.
Dr. Mike Patrick: One thing I really want to point out and I was a little bit disturbed that I came across this. I was researching infantile spasms but there’s some folks out here who are trying to say there’s a link between the onset of infantile spasms and childhood immunizations. Is there any truth to that?
Dr. Matsinger: This is a difficult topic but the issue here is that infantile spasms typically begin in the infantile period and this is also a period when immunizations are taking place. So we’ve got an association here that is likely unrelated to the cause of infantile spasms.
Dr. Mike Patrick: We’ve talked about that before in the show that just because something happens at the same time it’s something else doesn’t mean that that’s the cause, that they might just be an incidental thing and if you look at let’s say that there was some sort of relationship then as a parent you have to look at the risk versus the benefits and since the infantile spasms, it’s not very common but we do know that there more and more outbreaks of diseases which can cause death and disability that really the benefits of the immunization would outweigh the risk if in fact there was an it type of association.
Dr. Matsinger: In our clinic we absolutely advocate for full immunizations.
Dr. Mike Patrick: What is West syndrome? So this is another term that parents may hear. Is it just another name for infantile spasms or is it something different?
Dr. Matsinger: It’s actually something different and I think it’s a good question to clarify because infantile spasms are a seizure type whereas West syndrome is what they call an electric clinical syndrome, let me explain what that means. But fist William West is the physician who initially described this. So this West syndrome is named after William West who was a physician in England who described infantile spasms actually in his own son James who developed the infantile spasms in severe developmental delay. And so this was described beautifully as the first case in 1841 in a letter. It basically a physician father calling on a medical community for help, it’s a pretty touching story. But what we have is the key features of West syndrome is the same things we saw in James which is infantile spasms and developmental problems and that’s what we see in our kids in the infantile spasms clinic to come in, they often have developmental problems.
Now in the 1950’2 there’s a person named Gives who was an electroencephalographer who gave us this term hypsarrhythmia and this is an EEG finding. An EEG or an Electroencephalogram is where we measure the brain waves, we do this test on all our children with infantile spasms, and that EEG sometime shows the specific finding very irritable brain waves, they’re often very loud, they were often very sharp. Now these brain waves typically come out like the waves of an ocean but in these cases often times in West syndrome they’re very sharp, they’re very loud. And so some people talk about West syndrome as being a triad of the infantile spasms, the developmental problems and the abnormal EEG. Now the interesting thing is, and this is an important point that not everybody knows is only about 60% of the children who present with infantile spasms will have hypsarrhythmia on the EEG.
So this means that you do not need hypsarrhythmia for the treatment of infantile spasms. It’s a very important point for clinicians listening in because our children who have infantile spasms, they get first line treatment regardless of the presence or absence of hypsarrhythmia on the EEG.
Dr. Mike Patrick: That’s a really important point. In terms of from a parent’s point of view, were there supposed to be kind of watching for in this because the failure to reach developmental milestones it can be kind of difficult because there are kids out there who aren’t walking at 12 months so you don’t get concerned until they’re little bit older. And the same thing for the younger kids too, there’re things that we should be doing at four months but you know if you’re waiting until six months that’s about when we start to get concerned.
So is there anything specific a parent could look for then to advocate for their child with their doctor who may be saying, “Let’s give it a little bit more time,” is that makes sense?
Dr. Matsinger: There is absolutely something that parents can do. I mentioned that these infantile spasms can often be obvious but they can be subtle. And so here’s the key, the key to the diagnosis is the clustering. Any spell in infancy where you have one very short break and another, and another, and another so these clustering that is so typical in infantile spasms that’s the key to the diagnosis. And so if you have a child who has some subtle spells one after another, repeating then that’s the child you want to get to the pediatrician or the family doctor to talk about the possibility, “Hey are these infantile spasms?” The other thing to think about is if you have a child that has stopped progressing and they’re developing or is reversing.
So regression, developmental regression is never normal, these are red flags and absolutely if you have a child who has clustering spells really of any kind and developmental problems with stopping of progression or regression these are the kids.
Dr. Mike Patrick: You may be seeing these clusters of jerks. Will they just last a couple of seconds the jerks themselves when they can last a couple of seconds.
Dr. Matsinger: The actual jerks itself last between one to two seconds. So it’s a very brief jerk, now they can hold it afterward for maybe up to even 10 seconds. But it can be very brief and I mention about the clustering but when they first start they can occur what I call singly, so one at a time and that can evolve to clustering with relatively short period of time.
Dr. Mike Patrick: How long would a cluster last?
Dr. Matsinger: You know it’s variable, it can be just 30 seconds, 60 seconds often there are few minutes. Uncommonly they can go for 10, sometimes 20 minutes so these things can go on for quite some time.
Dr. Mike Patrick: And I would imagine that those longer ones, they may have been doing it for shorter period of time and just say it wasn’t recognized, or can it start out with long clusterings.
Dr. Matsinger: I think it would probably be more likely to start out in a more subtle way but not always. They can start out with long clusters as well, so it’s variable. The other interesting thing about this clusters especially when they start, there can be a brief cry or some kind of disturbance in the child’s personality starting often with a brief cry in-between or right after the spasms itself.
Dr. Mike Patrick: Parents may want to video this. Everybody’s got a cell phone now with video capability, I mean this is something that when it’s happening you may want to try to get it so you can show your doctor what you’re talking about.
Dr. Matsinger: You know I have a great story when I was in my training one of my early patients found one of my papers on the internet and sent me an email with a link to this video and I clicked and I thought what’s going to happen to my computer?
I didn’t know but I did click on it because it had the infantile spasms there, I clicked on it and what do you know this is a cluster of definite infantile spasms. I had that child in our hospital within six hours, received treatment and never had another infantile spasm again and this is one of these children with a normal brain MRI. Normal development leading up to the spasm and she has had a beautiful outcome, she’s completely normal.
Dr. Mike Patrick: But that’s something that if they have waited that may not be the outcome. So you really make a difference in that person’s life and that’s why I think this particular podcast is important for all parent so that they can know about this things and talk to their friends and family who do have babies at home. It’s difficult because there are some other things that they don’t necessarily have the clustering as you say that’s the key but a lot of kids as they’re falling asleep they might have a little jerk like that.
Dr. Matsinger: And this is a good point. There are several things that can look like infantile spasms that are otherwise normal or what we would call benign. One of those things as you mentioned are these jerks and sleep myoclonus they call it and they often happen as a child will fall asleep they can happen during sleep as well. The key there are obviously is that if they’re just occurring during sleep that would be unusual for infantile spasms but much more common for the sleep myoclonus which is again a normal.
Dr. Mike Patrick: So if it’s just an isolated jerk when they’re sleeping but developmentally they’re doing great, there’s no personality changes that’s much less likely to be infantile spasms? What about colic, can colic cause similar?
Dr. Matsinger: This is another thing that can be confused with infantile spasms. Child neurologist, pediatrician, family physician, nurse practitioner.
Even those of us who know about infantile spasms in less we’re thinking about it all the time we can miss it. And so when somebody comes in with these things we’ve really got to have it on a differential diagnosis but again these things can be subtle, we don’t want to say that these are things like sleep myoclonus or hiccups, or colic, or reflects unless we’re pretty sure. But these are often times our physicians may say for example all these might just be normal movements and I’ll see you at the next visit, or this is colic, or this is reflects but as you have said we need to diagnose these kids right away. So if there’s any indication that these are not these more benign things we need to get them in right away.
Dr. Mike Patrick: We mentioned then how these are diagnosed, it’s really history one so you see this as clusters and you’re getting this history, these short jerks that are occurring in the right age range. You say you need an urgent neurological consultation. Once then the patient gets to you, what kind of workup do you do to tell if this is infantile spasms? And you did mention the EEG and the hypsarrhythmia pattern, is there anything else that you do?
Dr. Matsinger: The most common situation is that a pediatrician, family doctor or other type of clinician will send their patient to the ER even or for an urgent EEG and so that’s where I come in basically. If there’s concern for infantile spasms at Nationwide Children’s Hospital may or someone on my team will become involve very early. So immediately we’re going to the child and taking a history, we’re reviewing the EEG immediately. So it’s really the combination of the history and as we talked about the EEG which confirms the diagnosis we review the video, the family’s often have a video because the duration of the clusters and that is very helpful.
But once we also like to confirm the spell on EEG the seizure itself, the infantile spasm has a typical correlate on the EEG we like to see that just for confirmation making sure that these aren’t one of these more benign things before we start treatment.
Dr. Mike Patrick: We know that there are associated underline conditions, what sort of things do you do then to work those up because you want to know is this just infantile spasms or is there an underlying condition that’s present, what sort of things do you do to identify those?
Dr. Matsinger: Well we start with the history seeing if there’s anything the history in the family history for example that may give us a clue. We typically will look for things on the examination so for example children with tuberous sclerosis will often have skin changes, very early on they can have something called hypo pigmented macules and what this looks like is a lighter area of the skin and that will give us an indication that this is tuberous sclerosis that could be very helpful.
And then we also do some routine laboratory test and what we’re doing there is we’re looking for correctible causes of infantile spasms. So for example there are certain metabolic conditions that can be corrected with diet or protein restriction. So we do this metabolic test right away and those come back quickly. And so we do these tests but there’s no better test for detecting the associated condition or cause of infantile spasms than a brain MRI, that is the most high heeled test that we have and so somewhere in the workup we will do that.
Dr. Mike Patrick: So how are these treated then? You mentioned that it’s important to get treatment going right away so that we don’t have more developmental problems down the road. What exactly do you do to treat infantile spasms?
Dr. Matsinger: Well treatment is going to depend somewhat on where you live, so what country you live in, what’s available to you, and what practitioner you say. So the medication used for infantile spasms will vary per clinician but even at a center, so within a center clinicians there may be 20 different clinicians who treat spasms differently. We’re a little bit different here at Nationwide Children’s hospital because we have the infantile spasms clinic and so we standardized treatment protocols and so we offer several medications that we consider first line. Those medications can be split into two groups, one is hormone therapy and the other is an anti-seizure medication called vigabatrin. So we have those choices what we don’t know is which child should get which medication? So for example if a child present with history of hypoxic ischemic encephalopathy that injury at birth we don’t know which of those medicines they’ll do best with for sure.
They may fail one and respond to the other but we just don’t know. There is one exception to that role and that’s the children with tuberous sclerosis they should get vigabatrin, the response to vigabatrin is very high and children with tuberous sclerosis so that’s one key difference.
Dr. Mike Patrick: So we start with medicine that’s kind of the base line start for all kids with infantile spasms or you’re going to try either the hormonal therapy or the anticonvulsant therapy?
Dr. Matsinger: Almost all children that’s the case there are a few special circumstances. So for example if we did an imaging study, took a picture of the brain and we found something that really needed to be corrected surgically. We could potentially take them directly to surgery correct it, remove something for example or take care of pressure on the brain for example and that potentially would cure the infantile spasms.
There’s a couple other special circumstances there’re few causes of infantile spasms for example that the best treatment would actually be the ketogenic diet and this is a diet high in fats and proteins more so than carbohydrate very little carbohydrates in that diet. So there’s a special circumstances but the vast majority of children will get the hormone therapy or the vigabatrin.
Dr. Mike Patrick: How successful is therapy? Does this usually once you start therapy it takes care of it? Is it really varied from kid to kid? What can parents expect the outcome after treatment to be?
Dr. Matsinger: It is variable from child to child, we’re never sure. The response rates are greater than 50% though if you take them as a whole. Some studies show very high response rates, some less than 50% on average I think we’re looking at just greater than 50% in terms of a complete remission and I’m talking about resolution of infantile spasms and improvement in the EEG.
Our response rates are pretty good. Again we don’t know which child should get what medication and so we have a specific protocol in our infantile spasms clinic where we emphasize early changes in treatment if a first one doesn’t work we go to the next one as fast as we can and we usually give about two weeks for each treatment to work before moving on.
Dr. Mike Patrick: We do have some clinicians in the crowd that was in the PediaCast what are some of the specific hormone therapies that you use?
Dr. Matsinger: Well the first medicine that was ever shown to be clearly successful in infantile spasms is a medicine called ACTH and that stands for adrenocorticotropic hormone and this is a substance that actually is found in our body anyway, it has several functions in the body perhaps the one that’s most well-known as it goes down to an organ called the adrenal gland and it release a steroids. We don’t necessarily know with a 100% certainty how the ACTH is working. Some people for example talk about the anti-inflammatory effect of ACTH and the release of these steroids and there may be something to that but what we see is a relatively fast response to a medicine like corticosteroids or ACTH and these are the response rates typically on average for those who are going to respond the last seizure occurs on day about four or five and the response to ACTH we know actually is determined almost always within the first two weeks and so that’s the justification for moving on. I mentioned about corticosteroids so ACTH is an injection we give that through an inter-muscular injection and we do that twice a day for two weeks and then there’s a taper for over the next two weeks.
And so the course of treatment is approximately one month. Similar situation in terms of the duration of treatment with the corticosteroids like prednisone. We typically use prednisolone because it’s the liquid formulation and we give that actually four times a day by mouth and we do that for two weeks and then there’s a taper over another two weeks. For both of these hormone treatments the duration of treatment is one month and then we stop that treatment at that time if it’s successful.
Dr. Mike Patrick: Does it ever need to be repeated?
Dr. Matsinger: Well it can be and so about a third of the time the spasms will come back after you successfully treat them. If the ACTH or corticosteroids, or vigabatrin for example if that was successful we can potentially go back to that and very often that’s successful.
A reasonable thing to do would be if somebody does get a hormone therapy ACTH or oral corticosteroids it’s reasonable for them to try a non-hormonal treatment just to see if we can give them a break from the hormone because there are some side effects that are possible with these medicines. So sometimes what we’ll do if the spasms come back we’ll switch to the vigabatrin sometimes.
Dr. Mike Patrick: You’ve mentioned side effects we always talk about complications because decisions in medicines really boil down to risk versus benefit. Do you let the disease stay? Do you treat it with this one and that one? You really have to sort through and put it through that risk-benefit filter to figure out what to do. Since untreated infantile spasms can cause developmental problems that are very severe and lifelong obviously we want to treat this.
But what are the potential complications of the treatments even though these maybe some significant complications they still aren’t nearly as significant as untreated infantile spasms right?
Dr. Matsinger: That’s correct. Let me start with the things that are common. For patients that goes on hormone therapy either ACTH or orthocorticosteroids the side effect profile is very similar and so you can talk about them in a group. The things that are common with hormone therapy there can be weight gain and that’s because the appetite goes up and you retain fluid. So you look a little puffy now these are reversible things obviously because we’re just treating for the month at most. Other things there can be some irritability, sleep disturbance we’ve seen high blood pressure being relatively common in this group.
All these things that I’ve mentioned so far are reversible or not as much of a concern. Sometimes we do need to treat the blood pressure either with a lower dose of the medication or with a medicine that actually directly treats blood pressure. Now there are some other things that can happen that are less common or rare. For example children at are higher risk for what they call gastric ulcers so there can be wearing of the lining of the stomach and they can develop ulcers this is pretty uncommon but it can happen and it can be serious. The biggest concern really with hormone therapy is the decrease in the ability of the body to fight infection so they call that immune suppression and we’re a little bit uncertain about the full duration of the immune suppression but we are very careful with these kiddos in terms of protecting them from infection if possible and very rarely this would be a very unusual circumstance but it has been reported.
Children can die from the immunosuppression if they ran into a bad bug, get a bad pneumonia, they got the bacteria in their blood stream and get something called sepsis. This is a concern especially that of the treatment of infantile spasms is very rare but it’s something that we monitored very closely in our clinic. The final thing I wanted to mention is with the vigabatrin it’s another first line treatment for our clinic and it has the possibility of causing problems with the vision and this is the peripheral vision so when I say peripheral I mean things way out to the side it would be very unusual circumstance for it to affect the central vision or recognition or phases or anything.
It can affect sort of a crescent shaped you think of the moon a crescent area of the retina which is back of the eye and the area of the eye that senses the things in front of us so there’s a chance that the vigabatrin could permanently affect that area. Now we watch the vision very closely, we do electrical test on the eye something called an electroretinogram we look for any changes in the vision. I have to say we’re just not finding the concerning things but it can happen, we watch for it. The other thing is that in terms of vigabatrin we haven’t talked about the duration of treatment if it’s successful we typically use a roughly six month course give or take depending on the circumstances and with that relatively short duration we’re hoping at least and we haven’t seen difficulty with the eye.
Dr. Mike Patrick: Let’s kind of move on past the infant period, if you do get kids through that and you’re able to stop the infantile spasms and their development is looking pretty good. Is there a point in time when they’re out of the woods?
Dr. Matsinger: This is a good question and typically if you’re off treatment and you’re going to have a recurrence and the spasms as you mentioned about a third of a time that can happen. It’s typically going to happen within the first six months. If I’m getting beyond six months with a child I think it’s getting pretty safe certainly for up to two years of age I’m feeling very comfortable not to say it’s possible but it becomes very unlikely for that to occur.
Dr. Mike Patrick: Is there an increased risk of other seizure disorders then during childhood and into adulthood for these babies?
Dr. Matsinger: What I tell parents about half the time children either before onset of spasms with the spasms or sometimes later in life they will develop another seizure type.
So and I warn them about this and we talk about this other possible seizure types often what they call focal seizures not always but they can be this focal seizures. Focal meaning starting from one spot in the brain either staying there with the electrical storm or spreading out from that area. Those seizures with time they can be often more obvious and sometimes they key thing that I tell parents to look for is if there’s something that happens maybe an impairment of consciousness, unresponsiveness and then suddenly being very tired afterward , an unexpected tiredness, significant tiredness that’s out of nowhere that concerns me for a focal seizure.
Dr. Mike Patrick: Is there any way to prevent infantile spasms from happening in the first place?
Dr. Matsinger: Well this is a research topic and so there are folks very interested in infantile spasms or seeing if we can detect the very early signs of the bad EEG what people call hypsarrhythmia so some people have termed this pre-hypsarrhythmia for example and so there’s some interest in looking at the high risk groups. I keep mentioning that that group with hypoxic ischemic encephalopathy and that group is interesting one because they can get the infantile spasms relatively commonly but it’s a group that we can identify so we know when there was an injury for example and so we can follow those children with time by EEG and we can look for changes in the EEG and if we’re looking like those brainwaves are becoming a little sharper, a little louder that may be an indications that this is pre-hypsarrhythmia and so there’s some people interested in the possibility of early treatment for those children.
Now I have to say that’s all in the research phase right now and we don’t know if it’s a benefit actually to treat before the onset of the infantile spasms, we don’t even know if the medicines will work in that period. It’s possible that the treatment is only effective after they’ve developed the spasms so there’s a lot of more research that needs to be done in this area and I got to say there’s very smart people that are looking into this right now.
Dr. Mike Patrick: And that’s one of those cases where will now the complications and side effects of the medication may make then you’re going to look at your risk-benefit filter a little bit differently since we don’t know.
Dr. Matsinger: Exactly, and that’s why it’s just in the research phase and you get more information.
Dr. Mike Patrick: What other area of research are being done around infantile spasms or is that the main thing right now?
Dr. Matsinger: There are couple of others initiative and so the issue of infantile spasms is the interest I should say is very common in those of us who treat epilepsy in general and so there are over 30 centers that have come together in a national consortium it’s called NISC the National Infantile Spasms Consortium and right now we are collecting information from all of our centers about causes outcomes from treatment. We’re looking at all these factors and we’re trying to learn more about infantile spasms and so this consortium is working hard to get answers for to what child should get what medication. We have more information to go to present to families and to select treatments for example.
Dr. Mike Patrick: Alright so let’s say that you’re a parent and you have a kid who you’re worried could have infantile spasms and you see your doctor, you show him the video, how does a primary care doctor or how does a parent get in touch with pediatric neurologist to really take a look at this at this more closely?
Dr. Matsinger: There are couple ways we could go with this but in our community for example I would encourage any practitioner who’s seeing these patients they can feel free to contact me. I’m happy to talk to any practitioner about a possible case of infantile spasms, how we can expedite the evaluation. Other possibilities depending on the degree of concern would be an urgent EEG so they could contact our office, we could likely arrange an EEG potentially even as an outpatient occasionally if it’s after hours or the EEG lab’s close to outpatients the we would potentially do the evaluation right there in the ER and expedite the evaluation.
So there are couple of ways of going but I am very pleased to take any calls from any of our practitioners in the region really or even outside if necessary but with my main goal of getting these kids diagnosed and treated as soon as possible.
Dr. Mike Patrick: I usually don’t mention this because a lot of the conditions that we cover on PediaCast were things that, I mean really they’re important to get diagnosed and treated but it doesn’t have to be right now. But since this one’s a little different we do have a physician direct connect number where really any primary care doctor can get in touch with one of our specialist who’s on call with an urgent question pretty much immediately and I’m going to put the phone number for that in the show notes so folks are interested in that and again this is for physicians or nurse practitioners and clinicians. You just head over to pediacast.org and click on the show notes and this episode is 281, so find the show notes for episode 281 and I’ll put that phone number that physician can call in to get in touch with a pediatric neurologist right away if they needed to.
From the parent’s point of view pediatric emergency department will be a great place to go if you really think that this is something that’s going on.
Dr. Matsinger: I’ll agree with that, that’s right.
Dr. Mike Patrick: Once a child is being diagnosed with infantile spasms then at least here in Columbus they would get plugged into the infantile spasms clinic here at Nationwide Children’s. Tell us a little bit about that clinic.
Dr. Matsinger: What I think is unique in many ways is our clinic is multi-disciplinary so we have multiple members that do different things for our team just to give you kind of a rundown is often the case upon diagnosis if I’m immediately available I will come to meet the family and evaluate the child, take a history, explain the infantile spasms, explain epilepsy what all that means, what we’re going to do. We have a nurse practitioner Mary Karn who’s been in Nationwide Children’s Hospital for a good long while before I got here and has been taking care of these children for a long time so knows a lot about infantile spasms.
She will also come meet the family and provide education. We have other members of our team for example we have a social worker Jenny Pacheco Philips who does a fantastic job in addressing any family needs from a social work perspective helping families get to visit who’s just so critical. And then we also monitor development very closely, we work closely with a developmental psychologist Mary Worginarski who does our developmental assessments and we have other members of the team for example Joe Rosa is a nurse who coordinates with insurance companies so that we make sure that the medication is paid for.
We have another nurse Cristina Wable who just does quite a few things but important job would be to coordinate all the eye evaluations and the children who or go on vigabatrin. And so again we have other members but this team is present in our infantile spasms clinic after the hospital discharge, the family will come to our clinic and can meet the team, we can address all their needs whether it be from a social work perspective developmental, whether it be needing specific treatments then Mary and I can help with that and so we have a nice setup where we can pull talents from different members of our team to treat the needs of the families.
Dr. Mike Patrick: If parents want to get in touch with the infantile spasms clinic and again because of the urgency with being treated the best thing really is to go to an emergency department or see a regular doctor and let them make the referral.
But let’s say you have a family with a child who has infantile spasms that’s already diagnosed and they’re moving from here, we do have what we call the welcome center here and there’ll be a link in the show notes for this episode over at pediacast.org episode 281 and the link will say connect now with the infantile spasms clinic and if parents click that it’s going to take them to a form that they fill out with best ways to get in touch with them it goes to what we call our welcome center and then someone from the hospital will get in touch with the parents and figure out what you need whether it’s a referral from your doctor, what’s need to be done with the insurance company and all that to get folks plugged in. So I just wanted to let folks know that that’s available.
Dr. Matsinger: That sounds great.
Dr. Mike Patrick: We really appreciate you stopping by, we do have some other links that folks in the show notes I think will find interesting. The infantile spasms clinic at Nationwide Children’s so sort of their landing page.
We do have a link to that for you and then also the child neurology foundation has a website on infantile spasms called infatilespasmsinfo.org and this is a comprehensive website tons of educational and support resources including videos of infantile spasms so people can click on that and see just some different examples of them since it’s a podcast sometimes it’s hard to we picture one thing in our mind and talk about it but the listener may have a different picture in their minds so we can all get on the same page if you actually see some videos of infantile spasms. And then they also have a parent mentor network which connects parents with parents who have previously travelled this path so just kind of a support community. So I’ll put a link to it the child neurology foundations infantile spasms page as well because I think it’s a really good resource. Well thank you for stopping by we really appreciate it.
Dr. Matsinger: It’s really my pleasure.
Dr. Mike Patrick: Let’s take a quick break and I will be back with a final word on safe sleeping practices for babies and that’s coming up right after this.
Dr. Mike Patrick: In nearly every retail store display cribs and bassinets are decorated with blankets, pillows and bumper pads and while these soft materials make an attractive nursery for a baby they can result in a dangerous place to sleep. The most recent information from the United States centers for Disease Control and Prevention show that more than 600 US babies die each year from sleep related suffocation that’s an average of two children every day.
Nationwide Children’s Hospital wants to keep your babies safe while he or she is sleeping Gail Bagwellan advance practice nurse and perinatal outreach coordinator for neonatal services leads our hospital efforts to share and implement recommendation on safe sleep from the American Academy of Pediatrics. She says, “Blankets, bumper pads and toys can cover a baby’s airway and block his or her ability to breathe. So get those things out of the crib and be sure to follow the ABC’s of safe sleep alone, on the back, and in a crib. In this way parents can provide the safest environment for their babies to sleep.” The AAP also recommends using a firm mattress in the crib, a fitted sheet, and a sleep sack instead of blankets to keep your baby warm. All other items should be removed from the crib no pillows, no stuffed animals, no toys, no blankets, no bumper pads nothing. If parents want to keep their babies close while sleeping use a separate crib, basinets, or portable play yard place nearby.
Many parents want to snuggle with their baby on the couch or bed but these are not safe places for babies to sleep. Babies can become wedge between cushions and bodies and they ca and do suffocate. So no matter where you are when your baby falls asleep always move him or her to a firm surface with no soft bedding and no toys. And I’ve seen this happen folks unfortunately more than once a dead baby is rushed to the emergency department because mom fell asleep with the baby on the bed or the couch. She had done it many times before with no consequences but this time’s different, this time her baby is dead. It’s a heart breaking thing to witness really and absolutely devastating for the parents if they could turn back time they would and they would follow the ABC’s of safe sleep. What are the ABC’s again? Let’s recap A is alone, it’s fine to keep your baby close when you’re sleeping but share the room not your bed and keep pillows, blankets, bumper pads, stuffed animals, toys and other soft bedding materials out of your baby’s sleep area.
B is on the back, place your baby back down, face up each and every time he or she sleeps. Sleeping on the back does not increase your baby’s chances of choking and sleep positioning products such as wedges claim to keep your baby’s safe but in fact they’re dangerous and not recommended. C is in a crib, use a firm sleep surface covered by a tightly fitting sheet in a safety approved crib basinets or portable play yard every time your baby sleeps. Couches, chairs, and beds are too soft they can trap your baby between cushions and bodies and they are dangerous places for infants to sleep. If your baby falls asleep in a car seat, stroller, or carrier move your baby to his or her crib as soon as possible and make sure the crib, basinet or portable play yard is in good condition, meets current safety standards and has not been recalled. How do you know if it’s been recalled? Just head over to recalls.gov and take a peek. So keep your babies safe while they sleep, follow the ABC’s always alone, on their back, in a crib and that’s my final word.
We’re also on Facebook, twitter, Google Plus, and Pinterest and of course we really appreciate you connecting with us there and sharing, re-tweeting, and re-penning our post so you can tell your own line audience about our little show. We also appreciate you talking us up with your family, friends, neighbors, and co-workers anyone with kids or anyone who takes care of children and as always, be sure to tell your child’s doctor about the program. Posters are available under the resources tab at pediacast.org. And until next time this is Dr. Mike saying stay safe, stay healthy, and stay involve with your kids, so long everybody.
Announcer 2: This program is a production of Nationwide Children’s. Thank you for listening, we’ll see you next time on PediaCast.
Me saying stay safe, stay healthy, and stay involve with your kids, so long everybody.
Announcer 2: This program is a production of Nationwide Children’s. Thank you for listening, we’ll see you next time on PediaCast.
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