Hey, everyone, and welcome to our AAPMNR Pediatric Rehabilitation Medicine virtual lecture series. Today, we have the opportunity to learn from Dr. Andrew McCoy around spina bifida and updates through a case-based review. Dr. McCoy completed medical school at Drexel University College of Medicine, followed by residency in physical medicine rehabilitation at the University of Pittsburgh Medical Center, and then I got to know this amazing physician during our fellowship in Children's Hospital of Colorado. And now, Dr. McCoy is an attending physician at Children's Hospital of Philadelphia. So I'm going to turn it over to Dr. McCoy to lead us in our case-based review of spina bifida. Thanks, Dr. McCoy. Cool. Thank you. Thank you, Dinesh. Thanks for the introduction, man. So I think in terms of this case, I have a couple of objectives for today. I just want to highlight content areas of the Spina Bifida Association guidelines. And for those of you that are kind of like on the call, if you haven't had a chance to kind of browse these guidelines or have access to them, I think they're just like a really wonderful resource in terms of taking care of patients with spina bifida. We'll kind of cover some common problems that affect individuals with spina bifida across the lifespan, and also just to maybe review some board-relevant topics for any residents rotating in or fellows training in pediatric rehab medicine. I don't have any financial disclosures. And so in terms of shifting to kind of what is covered in the guidelines for the care of people with spina bifida, there's kind of these big content areas that they cover. And this was work that was done under a UL1 grant, and it's supported research and kind of content creation from the CDC and the Spina Bifida Association. So it was kind of like this really awesome collaboration, and the guidelines were published around 2018 and are still certainly relevant today. It was definitely a huge undertaking. So with that in mind, what we'll do is kind of go through some, I'll just sort of, we'll have a little case. I might ask for you guys to unmute or just maybe just kind of put in the chat some of your responses, your thoughts on the case. We're going to basically be following a kiddo with spina bifida over the kind of course of their life at different time points. So let's begin with some pictures, okay, because we like seeing pictures. So this is a 32-year-old female presents for her 20-week prenatal anatomy ultrasound scan with the following images obtained. So feel free to put in the chat or just unmute yourself of what we think is going on in panels A, B, and C. Like what do we think that we're seeing? So we have picked up on a neural tube defect in panel A, very good. And when you're looking at panel B and C, the hint is try to see if there's like, it almost looks like maybe, is that a fruit I'm seeing here? Oh, look, it's the lemon sign and also the banana sign. So these are like some actually early ultrasound findings that you can see in ultrasound scans actually. And so there's been a lot of literature on how to pick up on neural tube defects really early on. What the lemon sign is showing is kind of on the left side of panel B is the frontal bone is actually scalloped a little bit because the hindbrain is herniating and that's something relevant to a Chiari 2 malformation that we'll kind of discuss later on. And the banana sign is basically you seeing the kind of the posterior fossa kind of being a little bit deformed in that image there. So spina bifida, it's the most common complex congenital birth defect associated with long-term survival. One in every 2,875 U.S. births each year are affected by spina bifida. And when we say polycentric inheritance, what we basically mean is that we know that there's a slight chance of recurrence if you've had a pregnancy or have had a child previously with spina bifida, but we don't really understand the genes and it's likely multiple genes that are at play, genes that are related to kind of folate metabolism, genes that are related to kind of how cells migrate in the neural tube. And remember that spina bifida is a caudal neural tube defect, meaning that during primary neurolation kind of which should be completing around day 26 to 28, there's some issue with the neural tube closing properly and then that's what leads to spina bifida. The maternal and environmental factors that you would consider would be like maternal obesity, diabetes, hypertension, febrile illnesses. And then probably the big thing to highlight when it comes to neural tube defects is folic acid fortification programs and food supply, which has led to like a really kind of a global decrease in the prevalence, especially for those countries that have a mandatory food fortification program. And then supplementations, which we'll cover a little bit later on. But the main takeaway is just that if you had a pregnancy affected by or if you have a personal history of spina bifida, you should be taking high dose folic acid, which is about four milligrams daily. Thinking about the types of spina bifida, so this is just kind of a diagram based off of a textbook that I made. The most common form of spina bifida is myelomeningocele, which is an open neural tube defect. But there's kind of this category of cystica neural tube defects where there's always kind of a pocket, a seal or a cyst to consider. Myelomeningocele is the most common and has the most severe consequences as kind of listed below. And because it includes in that little pocket includes spinal cord elements like the maybe the conus, the caudate quinae. And so there's this kind of two hit hypothesis where if there's an open defect and the nerve roots aren't allowed to develop like appropriately and they're in an environment around this amniotic fluid that like nerves aren't supposed to be exposed to, then it causes a lot of damage over time, over the course of development. Meningocele and myeloceles may not have a severe sequelae because they're technically they don't have all of those spinal cord elements essentially like kind of packaged into it. And really, at any point when you're thinking about neural tube defects, especially spina bifida, like kind of lumbosacral, like mid to low lumbar level, that's the most common, especially when it comes to like the CDC registry data. That's usually like the common levels you'll see. It's either split between that or sacral. Occulta is the thing that like might be kind of board relevant where you're looking for like a tuft of hair, an abnormal sacral dimple. Usually you don't have any neurologic deficits related to it, but you always have to just keep in mind for like occult spina bifida or kind of these more closed forms, thinking about lipomyelomeningocele, lipomeningocele, kind of like just lipominous material causing a tethered cord. And then as we shift and we're thinking about our case, we had a 32 year old female who just found out that her pregnancy is affected by spina bifida and has a neural tube defect. And so typically when we think about prenatal counseling, one of the big things that a neurosurgical team and a maternal fetal medicine team will try to cover is options for treatment, whether it is prenatal or postnatal. The management of myelomeningocele study was a study where they basically did prenatal surgery, like intrauterine surgery to open up the uterus, do surgery on the fetus to close that neural tube defect early to try to address that kind of like two hit hypothesis that I was talking about, where you want to try to like keep that, like close it up, right, prevent that extra exposure to amniotic fluid and to allow the kind of like the spinal cord elements in the brain to sort of develop as normally as possible. What was cool about this study is they basically cut the rate of placement in half. There was improvements in 30 month composite scores for mental and motor function, and then they found a lower proportion of curing malformation. And the the level of function in terms of like the functional level of their motor level was was improved two or more levels better than expected and mostly in the prenatal group. So kind of a really great landmark study. The guideline pearls that I want to highlight is prenatal counseling, where you want to be providing essential information to help with early management treatment options and to help with informed decision making. Care coordination, especially early on, is going to be key because these families and then the infants that we take care of are going to be referred to basically like a spina bifida program, usually that's like their medical home, which will hopefully include physiatrists, urologists, neurosurgeons, orthopedic surgeons, GI doctors, right. So it's all about this kind of like team and collaborative effort. And so usually there's a clinic coordinator that is kind of the point person and you have to make sure that these families can kind of access all the services that they need to to be successful early on. And then considering kind of like the family functioning around either the diagnosis or just around kind of life, right, where you have to consider all these emotional, social and financial stressors that can be can impact care and to really help foster resilience. Because what they found is that families really build up a really high level of resilience compared to other sort of diagnoses that they looked at. So, all right, so our next, so now we have a, so our now four-month-old female has a history of what they think considered was a low lumbar myelomeningocele and she ended up having a prenatal closure. So she had a intrauterine surgery and everything went well. But at four months at kind of her initial visit, she presents with kind of this sort of funky, noisy breathing pattern, feeding difficulties, these abnormal eye movements that you're kind of like seeing on the image. What are some things that you all are concerned about when you kind of look at this image and consider the clinical history? And feel free to put something in the chat or just unmute yourselves. Nice. Thank you, Melanie. Yeah. Yeah. Hydrocephalus, right? But what's up with the with the noisy breathing and the feeding difficulties? What do we think is kind of happening also? Impression of the brainstem from a Chiari malformation. Yeah, right. And it usually like symptomatic Chiari's is a little bit more Impression of the brainstem from a Chiari malformation. Yeah, right. And it usually like symptomatic Chiari's and it can be typically in the setting of hydrocephalus, right? What we're looking at right now is the kind of the setting sun or the sun setting sign like with the eyes where there's so much pressure on the back of the brainstem that it's actually affecting kind of cranial nerve function. And also this is showing some frontal bossing. You would feel the fontanelle. If it's really like kind of puffy and firm, you don't really feel a good pulse from it. Those are all like super concerning signs. And this literally happened to me like in clinic two weeks ago. One thing that's important to consider is kids that get prenatal closures. One of the outcome measures is shunting, right? So they may actually try to let these kiddos ventricles like stay a little bit larger than expected and kind of monitor for signs and symptoms of hydrocephalus. So they will have ventriculomegaly and a lot of neurosurgical centers are trying to consider kind of the risks benefits of placing shunts earlier watching them. So this may be something that kind of walks into your office to just be mindful of. So we ended up sending this kid out to neurosurgery like urgently and to get a CT and then they ended up getting scheduled for a shunt placement. But just one more point, seizures should always be on your differential here too. Yeah. Very good. Hydrocephalus and QRA2 malformations. So when we think about like normal versus QRA type 1 versus type 2, type 2 is always synonymous with neural tube defect. And so it's that combination of hydrocephalus and downward displacement of the cerebellum and brainstem and kind of pinching of the fourth ventricle. Other things to consider too is effect on the corpus callosum, right? From kind of like pressure over time and kind of abnormal development. And then also they found that like there's actually abnormalities and kind of how the midbrain forms too. I just have some kind of like highlighted images of just some of the classic neurosurgical complications. We've talked a lot about hydrocephalus and QRA type 2. So maybe we can just kind of like get a sense of what would you ask about in a review of systems for like a syringomyelia or tethered cord. You guys can feel free to kind of type in the chat or even kind of unmute. Okay. Nice, Kara. I like that. It's spasticity. Bowel bladder function. Nice. Yeah. Functional changes. Yeah, that's a big one, right? Like it's all about function, right? So pain. Yeah. Very good. So these are kind of like the sort of general things that like I think about too, like in like a review of systems. And I feel like the, again, the RRQRA type 2 and hydrocephalus are usually kind of like intertwined. And I'm not sure if that's true. I don't know. Again, the RRQRA type 2 and hydrocephalus are usually kind of like intertwined. And this kind of gets to what a neurosurgeon kind of do in terms of like their approach. One of the big things that we think about is to shunt or not to shunt. As I kind of alluded to for some of the prenatal closures and what they found from a prospective cohort that was published kind of in the early 2000s is that like failure and revision of a shunt is at least, a kid will have at least one like 95% of the time. And then infection is still like a pretty high risk too. So the morbidity of shunt placement is something that's always like carefully considered. In terms of long-term outcomes of EP shunt placements, one interesting thing that was found is that sensation at least at the knees, they were associated with like a 61% survival at 40 years. And then sensation just down to the umbilicus was much, much less. So I think to me, what this says is that all of these things, when it comes to complications are very, very tied to the kind of functional neurologic level of the child and the patient. And certainly it kind of correlates with like mortality, memory deficits and kind of decreased quality of life. So what they've tried to explore is what else can we do other than shunting to address hydrocephalus? And there was, I forget the surgeon's name, he was up in Boston, but he basically ended up going and doing some work out in Africa. And he developed a procedure where he was doing basically an endoscopic third ventriculostomy, which means that he was addressing a obstructive or non-communicating hydrocephalus by kind of punching a hole through the floor of the third ventricle to try to bypass that blockage to allow for better flow. Then on the flip side, so I have like a kind of little arrow indicating typically what they target. On the flip side with communicating hydrocephalus, the normal CSF absorption isn't really occurring. And so what they're thinking is it's related to abnormalities with the subarachnoid space in utero. So to basically stop the production of excess CSF that the brain and the sort of system can't handle, what they'll do is they cauterize the choroid plexus to kind of stop that. So this is still kind of a thing that's, I think there's just only a handful are done here. And it's sort of kind of like a new and expanding thing that there, I think a lot of neurosurgical teams across the country are trying to figure out like, can they get the same outcomes that the guy that developed this put together. Related to all this, I want to try to connect back to the brainstem and sleep disorder breathing, because this is super duper common in patients, especially with myelomeningocele, where you could have a central sleep apnea, periodic breathing, obstructive, or central hypoventilation, and it affects up to 81% of patients. There are symptoms that you can kind of screen for, and they are associated with really, really bad sequelae of like neurocognitive dysfunction, psychological issues like anxiety and depression, and then cardiovascular issues as patients with spina bifida age. So sleep studies are routinely recommended, because sometimes a clinical exam and just questionnaires may not be that reliable. So kind of some of the highlights from sort of this kind of infant section that we were talking about come from our kind of neurosurgery section and sleep-related disorders of breathing. So early management has really made a big difference in treating the neurosurgical complications. Advances in prenatal closure. So they'll either do a kind of an open intrauterine closure. They're also have developed fetoscopic closures, which is also kind of advanced, and so there's kind of like risks benefits to those different approaches. One of the big things they found in the MOM study, though, is like risk of issues with the placenta, premature labor, and premature delivery. So you may also have to be screening these infants when they come to your clinic for potentially signs of CP if there was any sort of sign of like a brain injury that happened in the setting of a premature delivery. And then when it comes to sleep disordered breathing, I mean, honestly, it's just these kiddos really need like sleep studies, and it can be tricky, but you got to really advocate for it. All right, so now we're going to shift to our patient who's now like a toddler, about 18 months of age, and he's trying to pull the stand, but it's having difficulty taking independent steps without falling. Her feet and ankles have kind of the following general appearance. What are some orthopedic considerations that would be relevant to her mobility? And any thoughts on what we're seeing on the image? You feel free to put in the chat or unmute yourself. I'm perfectly happy if this is like a conversation too. Hip development, okay, good, all right. Here, I'll include an X-ray. What are we seeing on this X-ray image? Is that a vertical talus? Yeah. Yeah, it's a vertical talus. We're looking at a rocker bottom foot set in calcaneus, and it's a vertical talus. Certainly, this is something that an orthopedic surgeon needs to be following because there's different approaches to try to help with realigning the talus appropriately. Now, what I want to try to focus on is just, let's talk about feet, hips, spine, all the above. When it comes to the club foot deformity, I've always found that that's a rough terminology, and I've always appreciated trying to really describe what you're seeing. The pictures here on the right show naming. You see like talipes or talipes, varus, valgus, equinus, or calcaneus. Often, a serial casting protocol is widely used by orthopedic teams and therapists to try to help correct a foot deformity with the goal of making it braceable. Because we know that these kiddos at some point are going to need to fit into bracing and with their insensate skin, they're at a high risk of skin breakdown. Without addressing those and correcting them early on, it really impacts their mobility. Some surgical options to consider based on what we may be seeing in the feet would be like tendon transfers, Achilles tendon lengthenings, or posterior medial releases, is a term they'll describe. Sometimes they'll even do fasciotomies and tenodesis for claw-toe deformities. When it comes to spine and hip, scoliosis and kyphosis are more associated with the higher level lesions, especially when you're going above L2. The pictures on the right here is just showing an example of what a magic or magnetic expansion control spinal growing system would look like to help correct for deviation. Then that leads to a more permanent posterior spinal fusion once the kiddo reaches bony maturity. But once you detect this, you have to typically refer to an orthospine team, and you could, on your own, obtain x-rays every one to two years and just track the cob ankles. When it comes to hip subluxation, that's a little trickier for kids with spina bifida, especially with myelomeningocele, because what they found is that if you're showing signs of hip subluxation, when they've tried to put the hips back in surgically, they did all these different protocols and studies back in the day. They found that the hips would almost always come back out no matter what they did. So typically it's best to leave it alone unless you know that there's going to be some kind of, or you're seeing an issue with pelvic obliquity, or there's a risk of pressure injury because of like hip mount position. And you can address those things from like an equipment standpoint. Fractures are fairly common in children with spina bifida, 11 to 30%. And it's most common at the distal femur and femoral neck. So hip surveillance. So I almost, that's interesting question, Kara. When it comes to hip screening x-rays, like I will just use my exam to kind of guide what I believe is going on. Like I don't necessarily need, because I don't think a hip x-ray will necessarily change what's happening to me, especially early in their childhood. But certainly as they get older, if I'm concerned that there is some kind of positioning issue that I would need maybe an orthopedic surgeon to kind of comment on, then I can get an x-ray. I feel like the spine x-rays is something that I'll typically try to track, especially during growth spurts. Like that's like the big thing. So try to get kind of a baseline before you would expect them to start going through a growth spurt. And then kind of, you can track it every one to two years. Yeah. And Andrew, that's definitely someplace where the multidisciplinary clinic, having an orthopedic surgeon or someone from their practice in so that you can examine the patient together, that can be so helpful. Yeah. Yeah. And that's what we have here, which is great. Because I've certainly had these like very frank discussions where the family, there was an example of a surgeon that doesn't take care of kids with spina bifida all the time, got an ultrasound of the kid's hips. It showed subluxation. The parents were super concerned. And then once the kiddo presented to spina bifida clinic with the orthopod and I, we were just like, it's going to be okay. Like we don't need to do anything about it right now. So that's a great point, Carl. Okay. Back to our toddler. So her parents are asking about prognosis for mobility and what they can expect as she gets older. Based on your observation, you notice active hip flexion, knee extension, ankle dorsiflexion, but otherwise no active plantar flexion or toe movement. And passive ankle plantar flexion is limited by about 70 to 80 degrees. So in general, what functional level would you give this child just based on this observation and what bracing would you recommend for her? And we could start for now for like functional level. What do you guys think that this kiddo's like estimated functional level would be? And then any ideas on kind of bracing strategies for her? Okay, we can kind of talk it through then. So, let's consider just like development, kind of what development might look like for a child with spina bifida, and then we can kind of roll into what we're thinking for our patients. So, typically in the first six months, if, and this is a big if, like if head control and hand use in the context of hydrocephalus incarii is not severe, then typically you could expect like the first six months to be like fairly close to normal with the exception of maybe some delays with rolling. Tommy time is still important for kids with myelomeningocele, but it can be very tricky, especially if their heads are really big, like they have macrocephaly, then like it's hard to control that. So, certainly working with like an early intervention, physical therapist is gonna be key to kind of teach the family some strategies to accommodate for that and help with that. Rolling for patients with high lumbar and thoracic level, spina bifida, usually they'll roll by around like 18 months with some compensatory strategies and a lot of support. And kids, I mean, they'll figure it out. If they wanna get to something, they'll army crawl, they'll kind of start getting around on their own. Sitting, even with the mid lumbar spina bifida can be a little delayed because of increased lordosis. And then pulling to stand and cruising for our low lumbar lesions can be sort of like near expected age level, but they may require some assistive devices or even some bracing to be able to kind of do it. And this is just some observations I've had from kind of working in clinic here and just kind of my training over the years. When it comes to therapy services, I know we're kind of all attuned to this, but these kiddos definitely need access to early intervention therapy services. And that's again, birth to three, PT, OT, and special instruction. Then once they transition to school, then you think about what are some of the therapy support they need for their school environment? And then outpatient, I think one of the things I wanna highlight, cause I think we always consider kind of like the mobility, but keep in mind that the role of an occupational therapist and a speech therapist for a child with spina bifida, especially for an OT working on kind of those visual and fine motor skills that can be super delayed and have a real impact on kind of bowel and bladder management strategies, as well as just learning handwriting. And then speech therapy, I think has been helpful, especially for the kiddos that we know are struggling from a cognitive standpoint. And you have a good sense of kind of what their sort of like neurocognitive profile is. When I think about like estimated sort of like level and like functional levels for kids with spina bifida, I kind of go back to parts of the INSCE exam, including kind of like what are we looking at in terms of hip flexion, knee extension, ankle dorsiflexion, great toe extensors and ankle plantar flexors. So for our kiddo, for the purposes of this talk, I was thinking, well, all right, we have a kiddo that's probably around like an L4 level. You can certainly consider testing accessory muscle groups, right? So for your L3 level, if you're not sure if they have like really good like knee extension, then you could test their hip adductors. For L4, another good muscle group to test would be the medial hamstrings. For L5, a good muscle group to test that's like an alternative would be our gluteus medius. And then S1, one that like we'll try to check too would be like a hip extension for kind of our sacral level kiddos. The reason that this stuff is important is, one, you wanna kind of provide some education to the family on where you feel their child is. And then this has an implication on what they're gonna be able to do from a functional standpoint, either at home, in school or in the community. And there was a cool paper that came out in 2021, trying to come up with sort of a new way to sort of visualize and think about function in kids with myelomeningocele. So they use the functional mobility rating scale, which again, you're checking sort of like describing what is the kiddo able to do on this kind of like six point scale at home, in school, and then in the community, i.e. shopping at the mall. You kind of assign them a panel of numbering. And then based on the exam that you're seeing, you kind of assign them sort of like a functional classification. And this is something that I feel like, I'm working with our physical therapy team here to like try to use this more consistently, rather than just the motor exam, because I feel like, you know, depending on what's going on from a joint alignment perspective, how they're doing with bracing, other considerations for their mobility, I kind of like having this sort of like functional hallmark, a classification system. And then it also gives you a sense of like assistive devices to use. To put all the orthopedic stuff and the equipment stuff together, I created kind of this sort of like reference diagram that I think might, may or may not be useful. I mean, again, I kind of like just tootled around with like, okay, how can I sort of like visualize like what I should be expecting for a child based on their level and based on what their ambulatory status is. Like, what are we looking for? So this is just kind of for reference. And then we can, if you guys are interested in having this, I'm happy to email this to you. It's something I was trying to create for purposes of a journal article. Okay. So next up would be a low gait. So what's a common gait pattern you might see with this patient? And here's kind of an example. What are we seeing in this video? You're seeing like a lumbar lurching also. Uh-huh, yeah. Crouch, I think. It's hard to tell from the front, but it looks like a crouch. Very good. I like that point you made. It's hard to tell from the front, right? Because when you do gait analysis, you got to watch from the front, the back, the side, right? If you're doing it in clinic. And so for this, this is a good example of a compensated trendylumbar gait pattern. And so what we're seeing is kind of that lurch towards the affected side. And what this has to do with is glute medius weakness, right? And you have all of these kind of like associated signs and symptoms of knee valgus, a crouch gait pattern. These are all things that, especially for a patient with L4 myelomeningocele, they're gonna have, right? So one of the considerations when I asked about bracing would be the question of, well, would you put this patient in a hinged or a solid AFO? What do you all think for addressing like a crouched gait pattern? Solid, nice, right? Because again, you're trying to, what you wanna try to discourage is that kind of anterior tibial translations kind of pushing them into a crouch, right? So you put them in a solid to try to help with that. So sometimes when kiddos come to clinic, like they come from kind of like a rural area and their therapists are like, well, they actually, they have some like, they have some ankle dorsiflexion. So I'll put them in a solid. But again, for a kid with an L4 myelomeningocele, they don't have any push off, right? And they're sinking into a crouch gait pattern. So a solid is the appropriate option. So thank you, Kara, good. Some general points to think about for reasons for decline in ambulation would be obesity, musculoskeletal deformity, primarily contractures are kind of a really big deal, skin problems that would prevent like brace wear, motivation, sometimes energy expenditure is too much, neurologic decline in the setting of maybe complications from surgeries or spasticity related to a tethered spinal cord. So I do think about like the role- Hey, Andrew. Oh, go ahead, Karl. That's one thing, all kids are motivated. So motivation, they may no longer be motivated to walk, but that doesn't mean they don't have a motivation. It's just their motivation change. So I kind of like patient choice better in this situation because, and it's one of the things that I emphasize with families at a very early age is that for a lot of these kids, the child has to be the one to choose when ambulation ceases. And the earlier we can say that to families, the better. Okay, yeah, that's a great point, Karl. Thank you. Adaptive recreation and sport, I think is a really great thing to bring up early on too for that reason, just to try to really give, and this isn't just from a like energy expenditure standpoint, but I feel like there's a lot of really great like social benefits for kids with spina bifida and really kids of like any sort of like motor impairments or really any impairments, just having access to some kind of activity. The main limiting factor often though, when you, I mean, if you just look at all the special equipment and stuff that's being used here would be expense and transportation. So having a good sense of what are the local organizations and resources and like how expensive some activities would be, would be a good thing to consider as well. So in terms of like kind of guideline highlights for like the toddler stage would be just thinking about collaborating with PT and orthopedics on expectations for mobility based on exam, alignment and goals. From an orthopedic standpoint, just thinking about spine and joint alignment in relation to the functional level, participation and physical activities from my standpoint is like crucial and you just wanna give them access to sports and recreational opportunities based on their family and the kiddos goals. And then access to early intervention services is really key because that kind of can help form accommodations important for school such as 504 and like IEPs. And Kara, to your question about the graphos, yes. And now it's not often now that like I'm prescribing those but I've certainly thought about it, especially for kiddos that I know are like, let's say they're pretty tall, like they have like much longer legs and they have a really significant crouch. Sometimes to get better control, we'll use like a full grapho, which for those that don't know what that looks like, it's kind of like a, it looks like a solid AFO but the plastic in the front is, there's like a big plastic shell built into the front to really resist the tibia from kind of translating forward. All right, so we're now at the kind of the child stage. So our patient's now seven years old in elementary school. Is having a difficult time with her peers. She struggles with bowel and bladder incontinence. She has difficulty with independent catheterization and does not have a consistent bowel program. What are some strategies to address difficulty with independent catheterization? And then what can we do to help with initiation of a formal bowel program? I'll kind of keep moving through now for time. So thinking about neurogenic bladder management. So it's present in greater than 90% of patients with myelomeningocele. And again, the level of lesion is really important in terms of considering how the bladder might behave. Often they can be kind of like sort of a mixed pattern with detrusor sphincter dyssynergia. And hydronephrosis is a really early sign that maybe the kidneys aren't super happy. So routine renal ultrasounds are done with kind of our urology colleagues. In addition to your dynamic testing to try to figure out like, how is the bladder behaving? What can we do to decompress the bladder? And that sort of theme when it comes to bladders is how can we maintain like a safe bladder, which is kind of like a low pressure, maybe like high storage capacity bladder. And so they'll typically put together kind of plans related to clean intermittent catheterization. Sometimes they use anti-muscarinic therapies like oxybutynin. There are some other medications that they'll use such as a beta agonist called Ribetric. There's another medication called Vesicare that kind of acts similar to oxybutynin. And you really need this kind of annual surveillance because prior to them having kind of formal protocols for bladder management, kidney failure and infections, I mean, frankly, would kill patients. So when it comes to, oh yeah, discuss Monty and Mace, very good. And then every six months, urodynamics every year. When it comes to the protocol to kind of reference for all of this stuff, it's called the umpire protocol. And that's what they've kind of, that's what often is referenced whenever you're kind of working with urology in terms of how to track things. I'm curious for the kiddos that you all take care of, who's doing overnight drainage for bladder? Rarely. Rarely, because actually here I've noticed that they use it a lot. And it was prior to me starting here, it was kind of, so that was interesting thing to think about. When it comes to like management goals, what we want is normal renal function and to maximize continence. And you can introduce early steps in self-catheterization like really early, as early as like five to six years of age. Sometimes again, you wanna start using, even when they're even younger, anatomic language and kind of maybe having them kind of like pick some steps or like ask them what are some steps that you can do for your independence with cathing. UTIs are unfortunately still like kind of common, right? But also as colonization. So you look for kind of signs and symptoms of UTIs. It may be different for the kiddos, right? Like they may not have a good sensation of their bladder, right? So they may not have pain. So things that you may look forward to would be like headaches or just kind of general like lethargy, not feeling well. Calcinosis is the thing that's really common with proteus UTIs, which can really stink. Those are like the staghorn calculi. And urologic causes in terms of some of the data from kukarula was kind of around 40% of deaths between 30 to 40 years of age. But all of that's kind of changing over time with our different sort of protocols and kind of offering different options for bladder management. What two big ones to consider would be like the metrophin off, which you're creating kind of a conduit with the appendix through the umbilicus and that makes catheterization easier. And bladder augmentation is something that is used for bladders that are too small and can't handle that high pressure. And so what they're doing is they're taking a segment of bowel, they open up the bladder, they put the bowel on top to just basically create more space to handle all that extra pressure. But often what you'll see is that patients, when they cath, it'll be kind of, sometimes they'll have the kind of a mucousy stuff in their cath. Sometimes there can be like an increased risk of stones too. Terms of neurogenic bowel management. So this is where like kind of exam is really important. Typically when you're thinking about fecal incontinence, it's in the setting of poor rectal tone and there's sort of like low tone, decreased reflexes. And you need kind of an intact reflex arc to maintain rectal tone. This is definitely probably the most commonly delayed self-care task in patients with certainly myelomeningocele. What typically you'll start with is a timed bowel program, meaning that the kiddo will sit at kind of scheduled times to help sort of initiate a routine. And then you may be using like stool softeners, suppositories, enemas, that sort of style thing to kind of help with better evacuations as the kids get older. So I feel like two to three is sort of like, from my standpoint, the time to start a time sitting program. And then three to five is when you're sort of trying to tease out like, what are we gonna do for the bowel program in terms of trying a cone enema or shifting to newer systems such as the picture here, which is the Paristine Transanal Irrigation System. And typically you're starting out at volumes of like one to 20 mLs of water or saline per kilogram. And when it comes to water or saline, I feel like it's kind of like patient preference or provider preference. And you can add additives to your enema solutions, like a couple of drops of J&J soap or glycerin or things like that. Surgeries for the bowel. So I think what was mentioned in the chat is the Malone ACE procedure, which is an anterograde continence enema, where they're basically creating a conduit where you can kind of instill the solution and it kind of pushes anterograde through the colon to kind of flush things out. Typically bowel surgeries, I mean, it's a big deal. And what they'll try to do sometimes is combine, if they know that a kid will struggle with both bowel and bladder, they may end up recommending to time doing a mace, for instance, at the same time as a metrophin off to try to help with bowel continence. And yeah, and then those are just like just some of the other options. A really good resource for bowel management protocols through the Spina Bifida Association is the Lifespan Bowel Management Protocol. And there's a QR code here. If you guys ever wanna kind of browse that protocol, they did a lot of really great work. There's some good reference materials on kind of like dosing and approaches. So in addition to her struggles with bowel and bladder, she is very short compared to her peers and is starting to show signs of early breast development and pubic hair. What diagnoses would you want to work up for her? So kind of like the two things would be thinking about precocious puberty to puberty beginning before the age of eight in girls or before the age of nine in boys. And typically it is in the setting of hydrocephalus, especially if there's like really, really severe hydrocephalus early on. And it can occur in like maybe 10 to 20% of cases of myelomeningocele. I included some example like growth curves that I found online when you're thinking about like, is this potentially growth hormone deficiency versus short stature? And so this is sort of like the top panel is kind of showing an example of growth hormone deficiency where the growth is kind of plateauing like too early, but the weight keeps trending up. And then at the bottom is example of short stature where a kiddo is just kind of following their own curve, but is just gonna kind of trend towards kind of lower compared to age match peers. This is where you wanna have a good relationship with your endocrinology colleagues about like a lab workup or treatment options for these areas of kind of endocrine function. So in terms of guideline highlights, and also the picture here on the right is just another example of a transanal irrigation system by a company called Wellspec, it's called Navina. But anyway, so we have our specific health issues is kind of what this section was all about. And I think we kind of tried to highlight sort of starting conservative with bowel management and then you kind of tune your approach based on the child and caregiver goals and their expectations. And in both bowel and bladder management, the surgical options, like really, you wanna give everything like a really good try before you reach for the surgical options. But for some kiddos, like they're gonna function much better using like a Malone Ace or Metrophenol. And then again, just kind of monitoring for early puberty and trending growth curves, especially in those kind of late elementary school years is helpful. So now we have a teenager, L4 myelomeningocele that does not like wearing a braces and she's complaining of a red spot on her feet and her current shoes. But she noticed that this morning prior to the appointment, in addition, she has average grades, but struggles with staying organized and remembering her skin checks. So what are some things you worry about for teenagers that are not consistently wearing their bracing? And what are some typical like neurocognitive profiles for a patient with myelomeningocele? Good, contractures, hygiene issues. Then like here's a picture too, kind of just getting a sense of what we're, what's kind of coming into the office. Yeah, attention, yeah, that's good. So yeah, part of this too is like when you're thinking about not wearing consistent bracing, think about like skincare and risk for pressure injuries, right? And this is just sort of kind of highlighting in general, the allergy to latex is still kind of common despite kind of removing latex from like hospitals as much as possible. For considering risk for pressure injuries, you think about the pressure, sheer forces and friction, right? And we have kind of like, we always think about sort of these like specific areas kind of around the kind of the buttock, the sacrum, the greater trochanter, especially for patients that are non-ambulatory. But especially for our patients that are ambulatory, you think about the feet, right? Because that could precipitate a whole bunch of badness like a open wound that becomes infected and they get osteomyelitis and the next thing you know, they need some kind of surgical intervention. So early education on skin checks and pressure shifts is really key. If they're struggling with their skin checks, especially on their bottom, our occupational therapist here in clinic will routinely talk about using mirrors, right? To check their skin regularly, setting timers to help. And then also always, always, always having some kind of like custom cushion. And that's indicated for like all patients that kind of use a wheelchair for their mobility. And when it comes to insensate skin for bowel programs, you want some kind of like padded or cushioned like toilet seat, depending on how long their sit time is when they're doing their bowel program too, to prevent pressure injuries. In terms of cognitive impairments, what we found is that intellectual function correlates inversely with the level of spinal cord dysfunction. And the risk factors you think about are hydrocephalus, number of shunt revisions or infections, nonverbal learning differences, maybe there's difficulties with reading and math, and it's mainly related to visual spatial issues, but they can do very well with their verbal skills. Like from a verbal standpoint, they're great. Executive functioning impairments typically come from like a decision-making issues, organization, attention, or memory. And then there's this something that's been described in the literature called cognitive disengagement syndrome, which is sort of in quotations and was described as kind of slow, sleepy daydreamer. And it may overlap with attention issues, but it's its own like kind of entity. So when you think about what to do for kiddos that maybe at the very least are struggling with their attention is sometimes you could consider trying a medication like methylphenidate, but the number one thing I feel like is most important is making sure you have a really, really comprehensive neuropsychological test. You outline what their strengths and their areas of improvement are, and you really work with the school and the family to set up their environment so that they can succeed. Because the last thing you want to do is be giving medications willy-nilly. So especially in the context of having an IEP in school, especially if there's hydrocephalus. So now our teenager and her mother are in the office and her mother asks if there are some resources to help her with college or maybe finding a job. And then at the end of your visit with her, the teenager asks, hey doctor, can I get pregnant? So what are resources you can discuss to help her with jobs in college? And then also how do you respond to her question about pregnancy? And maybe we've got to consider guidelines for like sexual health in young women with spina bifida. So let's start with the resources. So when we're thinking about a teenager with an L4 myelomeningocele, what are some resources, whether it's local or whether it's kind of state level that you could consider referring to? Nice Laura, great. Yeah, so like vocational rehab, it's an awesome service. I'm always very surprised when the patient's like, I haven't heard of it yet because I feel like a lot of school systems should introduce that early, just depending on how the kiddo's doing in school. But it's something that at least here, like we'll try to introduce, especially as they're approaching the age of 16, because then they can kind of qualify for some services. They can help pay for some college courses, they can pay for modifications to a car to help get them back and forth like to a job. So we, as part of that kind of care coordination team, our social worker here in clinic is like, they always have really great discussions and thinking about different resources to help with that. How do you respond to her question about pregnancy? Can she get pregnant? That's a great point, Laura. Yeah, like in colleges too, like thinking about like specific accommodation programs through college. I mean, the main thing when it comes to her second question, doctor, can I get pregnant? Is the answer is yes, you can get pregnant. So we have to kind of like talk about kind of what your goals are in terms of like, maybe eventually wanting to have a romantic partner, start a family, what have you. And so early education with families and patients is key. And this should be kind of put in the context of thinking about transition as well to kind of adult care. In patients with not just spina bifida, but with disabilities, there's an increased risk for sexual abuse. So I think also education and skills to identify dangerous situations and to be able to call for help and kind of maybe trying to navigate out of the different situations. Women with spina bifida, they can get pregnant and bear children. And just remembering your folic acid guidelines of needing a high dose of folic acid. So typically a prenatal vitamin has like 400 to maybe 800 micrograms daily. But for a woman with spina bifida or even that has a pregnancy affected previously by spina bifida or neuro tube defect, you should be taking four milligrams of folic acid daily. And that's typically a prescription. And typically you're gonna be referring, if you have a patient, like an adult patient, it's a woman with spina bifida that's pregnant, they need to be referred to like a special, like obstetric center with experience in caring for patients with spina bifida. Things to also consider if you're pregnant with spina bifida and you have a shunt, right? All of that sort of like with the pregnancy, considering what may happen to kind of shunt function. Especially if it's ventricular peritoneal. And then even considering like, what are you gonna do for like bowel management and things like that. Men may have a decreased fertility related to poor ejaculation and erectile dysfunction. And the reproductive potential is related to kind of lower and less severe lesions. And kind of all instances talking about non-latex condoms because of the risk of a latex allergy is important too to recognize and kind of provide counseling to your patients. And then kind of highlighting transitioning to adult care. So from my standpoint, physiatry is like the perfect quarterback for care. And so thinking about like when you're transitioning kiddos from the pediatric setting to an adult setting, finding a physiatrist in their area or close to them that can help kind of keep track of, are they seeing their urologist? Do they have access to a neurosurgeon, their orthopedic surgeon? Do they need a GI doctor or even just a colorectal surgeon if they've already had surgical interventions? So it's kind of a whole host of things. And also the number one thing is make sure they have a primary care physician because sometimes they've been kind of coming to you as the medical home for years and they may not have actually been following that closely with their PCP. Independent living is achieved by about like 30 to 60% of those with spina bifida. Some predictors would be executive function, socioeconomic status, intrinsic motivation, and just maybe like their goals to your point earlier, Carl, about motivation. And then also parental fostering of independence kind of early on. And if there is a desire to go to college, assist in identifying disability service offices at that school. And if they want to live at college, they need ADA compliant housing and need to be really mindful of like their setup. Vocational rehab kind of we mentioned earlier in terms of helping with assistance for kind of next steps in their life. And then the employment rate for those with spina bifida ranges from like 25 to 50%. So kind of again, sort of like kind of highlighting the different sections of the guidelines that we really need to be mindful of. Always checking the skin and using mirrors if necessary. Routine neuropsychological testing is very, very helpful, especially towards like kind of big jumps in schooling. And then in terms of planning and early education for sexual health is super important. We talked about kind of consideration for women with spina bifida or with a pregnancy affected by spina bifida. And then with transition, I think like with, as with everything, I think it's been commented on in prior AAPMNR like kind of conferences that like introducing the concept super early is gonna be so helpful to the family and kind of gets them thinking early about planning, planning long-term. And any questions or comments? I do really appreciate everyone kind of chiming in and being interactive. It definitely makes the talk much more enjoyable. Oh, the QR code, okay. Go back to the... And then my email will be at the end of the talk. This is the Lifespan Bound Management Protocol. And then in the references, Sam, there's a link to the care guidelines. Thank you so much, Dr. McCoy, for a phenomenal talk and kind of walking us through cases in different ages. Really, really grateful for this approach and kind of focusing on high yields, both clinically and also things to be aware of as we're continuing to see patients for all stages of us in peds rehab. For updates in terms of our lecture series, as we go forward, we have a few things coming up. We have three back-to-back gait lectures from Dr. James Carollo coming up March 25th, April 1st, and April 8th, kind of working through the basics of gait, as well as taking a closer look at gait mechanics, kinematics overall, and then working through what we can do to support patients around potential bracing opportunities and discussions with surgeons for gait abnormalities. We do also have a board review session based on spina bifida building off of this talk later this month on March 27th from 5 to 6 p.m. as well. So there will be further information posted to join in those sessions, but just wanted to again say thank you. And Dr. Lamar, it looks like you have a comment. No, I didn't. Oh, sorry, did I unmute? Didn't realize I unmuted myself. No, thanks, Andrew. Really great talk and very comprehensive. And thanks, Dinesh, for quarterbacking these. Yeah, thank you, Dinesh. And thanks, Carl. Thank you. Appreciate everyone joining today. Again, this is recorded and it will be available on the AAP Mineral Lecture Series website. Have a great day, everyone. Bye.

Pediatric Rehabilitation Medicine

spina bifida

Dr. Andrew McCoy

case-based review

prenatal management

multi-disciplinary care

neurogenic bladder

early intervention

transition to adult care

Spina Bifida Association guidelines