Acknowledging the challenges of diagnosing autism, pediatric neurologist Jennifer Martelle Tu, MD, PhD, provides clarity on the criteria, then discusses common issues – including digestive, sleep and aggression problems – and which treatments help. Plus: new information on ADHD symptoms in kids with autism.
I wanted to go over some of the troublesome behaviors and autism because I know that you guys as pediatricians really are the front line in caring for these patients. And I hear it time and again, both from other physicians and from the parents. Um, that there is just really a lack of I think good resources or that perception that there's not a lot of resources and they don't know what to do and who to go and who should evaluate this and what to treat with. And there's just a lot of misunderstanding, a lot of confusion and not a very streamlined process for taking care of these patients. And so my goal tonight is to sort of do a little bit of a literature review going over some of the more problematic and the more common behaviors that at least I see in my clinic. Um, and some of the things that I'm used to caring for in treating in this patient population and hopefully give you guys some, you know, some tools for your toolbox to try and temporize while we're waiting for the right referrals were waiting for the evaluations that need to happen. So first and foremost I have no disclosures to report. This is a pretty straightforward lecture. Our objectives for today. The main thing we're going to focus on is trying to understand and describe the common behavioral issues we see. We're gonna look at some of the barriers. This is pretty straightforward. I won't spend too much time in them, but I'll point them out as they come up. But there are some pretty important barriers to remember for these families when we're trying to use both non pharmacologic and pharmacologic interventions that I think are worth noting and might help you um sort of team up with your families a little easier and recognizing those barriers and come up with strategies to circumvent them. Next will try and go through some of the medications that we use. I don't expect any pediatrician to become really familiar or comfortable in using these medications but many of them are ones that you've used before for other reasons and are things that you can certainly try as first line therapy while patients are waiting for psychiatry and neurology. And then lastly, just a quick note on trying to differentiate between developmentally normal behaviors and then the problematic behaviors that actually warrant treatment or further evaluation to go through all of this these objectives. I really thought it would be best to start with what really is autism. The definition has changed slightly over the last couple of years. Um And with a new D. S. Um criteria, things are a little I think clearer but still it's still a difficult or challenging diagnosis to obtain. And then we'll look at the behavioral issues, will look at the the pathology versus developmentally appropriate behaviors. And then lastly we'll touch on the pharmacology. So first what is autism? I'm going to go through this just exactly exactly how the GSM describes it because um it's important that we look at the Burbage to really understand how this diagnosis is made. So the first criteria really is these persistent deficits and social communication and social interaction. It has to come across multiple contexts. So school and home or day care in home and it can't be accounted for by general developmental delays. Um That's a really important thing because when somebody has global delays it makes it very challenging to isolate the social communication and social interaction when their other domains for development are really not to the level where I would expect certain social behaviors. Um So those those Children that have global delays and eventually end up with an autism diagnosis, their diagnosis is often quite delayed because we're waiting for the general domains to sort of establish themselves of where they're going to fall out for motor skills and language skills. They have to have all three of the core criteria here. So deficits in social emotional reciprocity. I mean, just very basically, do they smile at you? Do they make eye contact? Do they want to share an experience with you? They have to have deficits in non verbal communication? Um Do they pointed objects? Do they wave by, do they pick up on some of those subtle cues? Um facial expressions, things like that to let them know when they're in trouble or when you're angry with them or when you're happy with them and then lastly, deficits in developing and maintaining relationships. This is one of the more challenging pieces. And part of the reason why, um, autism is often delayed in patients because of this final criteria in here, of the relationships, because Children aren't expected to make a lot of relationships and tell the age of three or four when we're really seeing not just tandem play but actual social interaction. You know, the kindergartner, the preschool are really developing those relationships so they have to have all three of these criteria in order to satisfy this portion of the diagnosis. The next criteria is restricted or repetitive patterns of behavior. Um, this could be in certain interests or in activities and here they only have to have two of them. Um, and so this one is a bit easier for most, most patients that come to us with a concern for autism satisfy this criteria. Um, the stereotype of repetitive speech is the more common one that we see another one that's quite common is the adherence to routines. These patients do very poorly when their routine is disrupted. They need a lot of um, a lot of headway when you're when you're planning to have a transition, they need a lot of help there. The next one could be highly restricted interests. Um, these are fixations on trains or cars, or, you know, very specific interests that they're they're just really, really fixated on. Um and it's often not the whole it's the parts of things that they're interested in, not necessarily the whole piece of something. So, this is a kid that has a car, a toy car, and they spin the wheels because they're really interested in the wheels and the movement there, and then the last one, this is what comes up on all the adults in the screening is the sensory sensitivities. So either hyper reactive or hyper reactive. Um and we also see um special interest in sort of sensory aspects. So these are kids that are seeking sensation. These are kids that lick things or put things in their mouth, or constantly run their hands along the walls, or they touch anything because they're really seeking out that that sensory input. And in the last two criteria um are pretty straightforward. Almost every every um every entity in the GSM has the similar, similar Burbage, so they have to be present in early childhood. But the key thing here is that you may not become fully aware of them until the social demands exceed the limited capacities that sentence right there. Um really makes it challenging for the older kids because we often see kids come later to us because they were coping for quite some time. But then when the social intricacies of school become really complex, that's when we see issues at age eight, age nine, you know, heading into middle school it becomes more challenging for these kids to really interact socially at an age appropriate level. And that's frustrating because, you know, by that age they've aged out of the regional center, there's really, you know, the resources for them are quite limited. So, um I see a lot of patients come to me at that age with this frustration because of the criteria. C and then lastly, there has to be impairment of everyday functioning. All right, so I bring up that definition really just to show you or demonstrate that it is very straightforward. The definition of autism is laid out for you. And what that means is pretty much anyone can make, Yeah, so you can have any physician look at a child and say, well, yeah, they check that box and that box and they meet the criteria for autism. But what's really challenging are the subtleties. And I mentioned a couple of them. There are a lot of things that mimic autism. Anxiety is a very common 1 80 HD is another common one. And if you don't have the ability to really spend a good chunk of time with these patients, it can be very challenging to feel confident in that diagnosis. And that's what a lot of parents tell us is. That. Well, I saw one person, I thought it was autism and I saw someone else and they said it wasn't. And you know, the parents get frustrated because they get a lot of conflicting information depending on what type of evaluation they had. And I will just say that nothing is perfect. A lot of the scales that we use, the measures that we use, um do leave room for interpretation. And so for patients that I see who have not yet had the full neuro psych evaluation, I will often tell them straightforwardly that well your child does or does not meet criteria based on the specific anxiety and clinic, but I reiterate how important it is to rule out those mimics and so we can move forward trying to address some of the behaviors and concerns they have. But they're still needs to be that thorough evaluation looking for those mimics. And I'll get to that testing in just a minute. Um, but in general, when we talk about autism, we know that it's about a 1% prevalence worldwide. Um this has been increasing over the last couple of decades. Um, there's a lot of series out there about why this trend is occurring, but I don't think anyone can say definitively, um we know that it affects males more than females, but within this population, um, how I explain it to most families is that autism really is an umbrella term, and there are multiple underlying ideologies that present with the same genotype. And so it looks like autism, you can call it autism, but the cause is really what's different and knowing that it also helps families understand that the evaluations are so important and the treatment might vary from child to child depending on the underlying ideology. Um, we know that there's a lot of gene environment interaction here. Um there's been good twin studies that have really brought that home. Where and even in mono psychotic twins, you know, there's only a 77% concordance and that's different between male and female. There's a much lower concordance and female mono psychotic twins. Um but what I alluded to earlier with the the mimics and some of the underlying causes and the A. D. H. D. Anxiety, depression. When you actually fulfill the criteria and you make the diagnosis of autism, if you look at that population, About 75% of them have co morbid psychiatric illness. And that brings a lot to the table as far as the behaviors, the baggage the treatment, there's so much tied into this diagnosis and we know that each child is unique. There not a single patient with autism is it's the same as the next. And so you can't just say well we treat it this way and we give this medicine and we do this routine and we make this change and you know that unfortunately just doesn't work. So I'm going to present to you the data as far as what we have the studies that have been done um what treatments we think are helpful, but you have to take most of this with a grain of salt. There's a lot of conflicting evidence out there. There's a lot of anecdotal evidence out there and families um they read a lot. So they often come with a lot of questions. I know you guys know this because they come to you first with all these questions. But there's a lot of information out there. Some of it's good, some of it's not all right. So before I jump into the become behavioral issues, I just wanted to touch briefly on what neurology typically does for these patients. So um I will often get a referral for a patient who we think has autism or they come to us first with developmental delays or some concern about how they're learning. And our first step is to decide what testing should be done and if any imaging should be done. And if any referrals should be made most often these patients get referred to the regional center. Um If their school age then they get referred to the school for um psycho educational testing. Um We will often do first line screening with genetic testing that typically includes the C. G. H. A. Rey carry a type. Um Well do fragile X if the right features are present. Um and then there there is an invite a panel um depending on their insurance and their willingness to pay or to to do the testing that is really for autism and development of delay. It's got over 2000 genes that are tested. Um I can't say personally that I think the hit rate is that high. But again, depending on the circumstance, the family that might be a test that we offer them as well as far as imaging. This is the question that often comes up from families. Um you know, not every patient needs a brain MRI. But if there's clinical or exam features in addition to developmental delay, such as microcephaly or microcephaly, or there is um Some feature, some dysmorphic feature or abnormal reflexes, things of that nature. Then those Children often do get imaging and the recommendations around imaging certainly have changed within the last 10 years. It used to be that every child with autism, it was standard of care to get a brain MRI. And that really has been changing because we have so many Children with autism that have gotten brain injuries and we know that there's just not not a lot of results and and positive information that comes from those MRI. So we don't often get it anymore unless there's some other clinical piece that pushes us that direction. So whether or not a child has a depth um a diagnosis of autism by the time they make it to neurology, uh doesn't necessarily change what we might do for them as far as the behaviors. Um But I know that not every neurologist typically manages behavioral issues that we see with autism. I do within my department. I know at stanford there's a specific clinic that does um the Mind institute certainly has neurologists that do but it really depends on where you are as far as what neurology does, where I was previously in Washington, D. C. I had a separate clinics set aside for my patients with autism that was dedicated just to the behavioral issues. But really the lack of psychology involvement in most neurology department is what limits our ability to really diagnose and treat patients with autism. Okay, so that being said, I'm going to dive into the behavioral issues that we see most commonly. Um I think parents have different priorities as far as what they want treated. Um teachers certainly have different priorities as far as what they want treated, but I think the most common ones are going to be nutrition and gi dysfunction. Sleep is a major one, anxiety and depression and sensory processing is as relatively newer as far as treatment in autism because it's it's taken quite a while to be recognized as a co morbidity. Certainly aggression and self injuries, behaviors are quite common in this population. And then lastly, ticks in 88 year impulsivity. So for nutrition and gi dysfunction, the most common thing we see really is food selectivity and food nia phobia. But of the most recent parents survey, It really comes at about 90% of patients with autism have some form of food-related concern. Sometimes it's that they're having frequent abdominal pain, they have constipation. Some of it is behavioral, some of it is diet and food related. There are really eloquent emerging mass models looking at the gut and the brain connection. Um it's a relatively new discovery as far as the immune system and how that regulation interaction occurs between the gut and the brain. And so I think over the next, you know, 1-2 decades, we're going to see more and more information and more and more data coming out about how treating some of these nutritional and gut issues can improve the quality of life for our patients with autism. We don't really know the main causes for why there is such an issue with constipation, diarrhea, food intolerances. Um We think that there's um a difference in mitochondrial dysfunction. Um We have they have them. I say we like the royal. We uh there certainly have been studies demonstrating that that the gut microbiota are different in patients with autism compared to um age matched peers. There's also been differences demonstrated in patients with autism versus patients with fragile X, or patients with trisomy 21. So it's not just the restrictive diet that we see in many developmental disorders. There's something unique about patients with autism. Um That has been demonstrated in some of those mouse models as well as in clinical studies. Looking at the gut microbiota, we know a lot of Children with autism have poor carbohydrate metabolism. Um And there have been some decent studies actually looking at changes, you know, gluten free diet, things like that that have really brought home that point that we don't know why, but carbohydrate metabolism seems to be different in patients with autism. Yeah, as far as reasons why this is concerning. Um one of the most common things really is just health and growth. I mean a lot of patients with autism end up with macro nutrient deficiencies. Um They end up with obesity and then unfortunately with obesity there's a lot of obesity related medical conditions that compound the medical care and necessities for that child. And then importantly for the families, there's a lot of effect on behavior. Um and this again comes to the to those mice models that have recently been developed and looking at how our gut microbiology and flora actually influence our cognition and our neurochemistry. They've demonstrated changes in our dopamine and serotonin in our Gabba based on the different flora in the gi tract. So it's quite interesting how these diets and gi health for patients that autism has quite a profound effect as far as treatment options. First and foremost the goal is to improve variety and decrease the selectivity. So occupational therapy and feeding therapy is the number one recommended treatment for patients with autism. The goal is to have them eating fruits and vegetables and protein. Um There certainly are um occupational therapists and just about every academic center that really do help with this. The G. I. Clinics are quite good at helping with this but there are also private occupational therapists who are good at um helping with. It's sort of like you can think of it kind of like allergies, how one of the treatments is exposure therapy kind of the same way that a lot of feeding therapy and occupational therapy works with autism and my clinic, we talk about a lot of food cheats, so trying to meet the patient where they are, but still help with nutrition and with constipation and buy food sheets. I mean things like smoothies that have vegetables and protein in them or if the patient really likes french fries, finding alternatives like rather than tater tots, there are veggie tots, there are cauliflower broccoli pots, trying to meet the patient where they are with their current limitations, whether it's a certain aversion to textures or colors, things like that. Um, if they don't like cold smoothies, you can actually give them a warm smooth. It doesn't matter just because it's warm. So a lot of different ways to try and cheat the nutrition and try and help families um, improve because I think constipation is a really big one when kids aren't eating well and not just worsens there withholding behavior, it worsens their daytime behavior and increases their pain. So trying to improve nutrition really can make a huge difference. I briefly touched on the gluten free and casein free diets. There actually is good um There's been too good studies within the last five years looking at this, it is strongly recommended. It's sort of inconclusive at this point though, but the reason it's recommended is that there's no obvious evidence of harm. And so when I talk to families about diet and options rather than throwing them on a lot of vitamins and minerals and supplements and whatnot. Um the first one that we typically go to is gluten free and casein free because it's um not that they're necessarily easy diets to follow, but there's a lot of data and a lot of um cookbooks and things out there, so it's easier to families to do gluten free because there's a bigger gluten free community now than there was 20 years ago. Um So that's the first one that we try. If we're going to do anything as far as supplements um There's very limited data for using any supplement. Um You know co Q. 10 comes up vitamin D. B. 12 A. Multivitamin. Um And part of it is that the studies are very hard to um to to conduct mainly because the only outcome really is a parental report. Um So the data is limited but again if there's no evidence of harm and as families find it helpful in their opinion then I typically don't discourage trying supplements typically. Um We know that in the studies that have done lab evaluations we see uh low levels of vitamin D. B. 12. So they're going to do anything. I stick to the ones on the list. There is as the primary ones. And then we also see this um inverse relationship with their amina are there? They're they're they're fatty acids so they're in the pro inflammatory state. They have, the omega six is compared to the omega threes and so trying to um invert that if possible. Again not a lot of data to support it, but no real evidence of harm. And then the last one that sort of an emerging therapy is the microbiota transfer therapy. There's there are case reports. Um there's very small studies have been done and again the only endpoint in this is parental report. So they're positive data which is you know that's that's hopeful but the numbers are not nearly high enough to really recommend this. But if parents want to seek it out again, it's not something that is necessarily discourage but not much evidence as far as barriers. The biggest one that I see truly is the time and the education for families. Um They spend a lot of time looking for that magic bullet that they can just feed their patient feed their child and help them improve their behavior and it's just not out there. Um so it's a lot of education, a lot of talking about diet and being willing to listen to them about what they've tried and what they're interested in trying um occupational therapy is not everywhere, so that's often a limit. And then in order to do a lot of these diets, it costs money, it's much easier just to go to Mcdonald's and get a happy meal every day because it doesn't cost a lot of money and it keeps their child happy. Um So it's um this is not a benign issue. It sounds kind of funny sometimes when you focus on um nutrition as a primary treatment strategy for patients with autism. But it really can make a big difference. So a lot of talking a lot of education for families. Alright. The next one that I see probably the next most common one is sleep. Uh I know you guys see this because I get the referrals for this but this is a very common one. Up 50-80% of patients with autism have some form of disrupted sleep. Um And it tends to inversely correlate with the I. Q. And functional status. So the worst there. Um autism is the more likely they are to have sleep disruption, sleep onset insomnia is the most common form. And then you've got sleep maintenance where these kids just don't need a lot of the city if they wake up really early. Um, but the causes here are really, um, this is where it's, it's very early in our understanding of this. We've definitely demonstrated differences in neurotransmitter expression and patients of autism. But again, you have to remember that autism is just that umbrella term. There are so many underlying causes that it's hard to look at just the general population for autism and identify these um, significant changes. But certainly melatonin, serotonin and Gaba, which are all very important for sleep, have been demonstrated in some studies as being different or lower in patients with autism and then nutritional different deficiencies, things like autism. Um, some of the vitamins, uh, you know, anecdotally have this relationship with sleep. Um, and then a big one here really is anxiety and environmental hypersensitivity. So, when you've got a child with autism who has severe separation anxiety and can't sleep because they hear a certain noise, it makes it very challenging for that child to get into sleep. Um, and then lastly, uh, you know, more and more vocations, autism certainly have obesity as a concern. And so there are other medical causes like sleep apnea and restless leg syndrome. Um, you know, with the anemia and poor diet that that's certainly come up. The main reason to worry about um, sleep here is mainly because it worsens daytime behavior, but a huge one, not to forget, is the burden on caregivers. This is something we see in neurology for any caregiver patients with dementia, very similar population as far as sleep, it really adds to the burden for the remember if they've got to get up and go to work the next day, they can't be awake all night with their child who's having, who's struggling to get into sleep. The treatment again initially our behavioral and addressing any underlying medical issues. Um, one of the most common ones really is that anxiety and the sensory hyper sensitivities. Um, so the non pharmacologic ones, this is where I focus a lot of my attention because there's not great evidence in the pharmacologic side, but for the non pharmacologic really, routines and sleep hygiene are crucial here. Um, for routines, I always stress daytime exercise and not just letting a child kind of ramble and run around, but actually having a dedicated 1-2 hours where you purposefully and being present with a child, you engage in a physical activity. So going to the park to play soccer or going on a walk around the house, things like that to actually engage the child and physical activity. We really want to limit daytime naps to try and encourage that consolidated sleep overnight. And an important one is screens because most Children with autism have their own tablet, their own screen. They're looking at it all the time. And so we really want to limit that before bedtime. two of the ones that that and my personal experience have really benefited patients in our little, um, you wouldn't think about it a little off the wall. They're both recommended by most of the autism, um, organizations. What, you know, there's multiple multiple of them. Some of them are more legitimate than others, but almost all of the autism organizations that I'm aware of also endorsed these to the first one is photo stories. So for Children, especially with limited literacy or language skills, putting together a book with photos, walking them through their nighttime routine, talking to them, showing them exactly what's going to happen. This is similar to what child life does when they're helping a child cope with some intervention they're going to have in the hospital, but it's really just focusing on bedtime and what's going to happen, making them very familiar with all the things we're going to see. So the other one that is endorsed is what's called a bedtime past program. This works better for Children that have um, you know, a decent amount of language. Um, but basically, especially for those with anxiety as you provide them with a pass that they can hand to you for a freebie. So at any time in the night, if they feel like they need you, they can give you that pass and you don't ask any questions. You say, okay, you needed your past, you hand it to me and then we're done and it's sort of like a setting the rules and routine and being consistent. But that bedtime past certainly seems to help with patients that have that anxiety because it just, it lets them know that if they really need you, they can ask for you okay. And the last one is bedtime fading. That really just comes from sleep medicine. So not putting a bed a child to bed if they're not tired Finding their time when they are tired and starting there so that they get used to actually going to sleep when they're in bed. So if the bedtime is that they're tired at 11 pm, you put them in bed at 11 pm and then over the next several weeks, you work on fading that time earlier and earlier. Um, but you don't want them to put him to bed when they're just gonna lie there and and resist going to bed. You want to wait till they're tired. Yeah. Um, some of the environmental things that can be changed our sound machines for that, that sensory child who's sensitive and weighted blankets, um, data is quite mixed on these, but overall pretty positive. Um, and then the nice thing to remember for our patients is that with weighted blankets and sound machines, uh, these are medically indicated you can treat them like DME and you continue to get them reimbursed. So parents, I know weighted blankets are quite expensive. Um, but that is a, it's a, a medical equipment device basically that they can get reimbursed for. And then the last thing for the parents really is just reassurance that most of this doesn't prove with age. So it's very challenging and the toddler age, the young child, school age, but generally middle school high school, it doesn't prove As far as the pharmacologic interventions. Um these are pretty straightforward. These are all things that I know you guys have seen before. Melatonin truly is the starting point and what most people use. Um and depending on the age, typically 3-5 mg going above that, Generally you're going to run into issues with vivid dreams um in this population. So I I rarely go above five mg. And then alpha agonists are things like cloNIDine um can be helpful that that side effect, the sedation is a side effect of the medicine, not really the reason why we're using it. And just like any animal model, um you develop tolerance not to a medicine, but you develop tolerance to side effects of medicines. And so with time that sedating effect does wear off. And then lastly, the atypical antipsychotics, I would not um certainly not expect to see any pediatrician prescribing these unless you absolutely need to. Um Not not trying to withhold any any medications from you guys, but generally not something you guys typically prescribe these often are not used necessarily for sleep. We use these again for that benefit of the side effect when we're addressing other behaviors. The biggest barriers that I see and trying to treat sleep um come from co sleeping and worker caregiver work schedules. Um You also remember in the Bay Area especially um there's limited size for many of the dwellings that families are in. So, shared rooms is a is a big issue and just trying to take into context. Um the whole family dynamic, right? So this sleep impairment doesn't just affect the child. It also affects their parents and their siblings and trying to work with them around all those issues can be quite difficult. Sometimes we have um you know parents that end up sleeping in like the living room so they can give their child the bigger bedroom so that there are other child without autism can also have a private room. Like there's I see certainly a lot of sacrifices that families make trying to trying to make sleep work. Alright. The next one. Um Just looking at the time, I think I might need to pick it up a little bit. Sorry guys. Um So anxiety, depression and sensory processing. Um This is relatively new. Um The changes in the D. S. M. With the last from 4 to 5 really allowed us to make more co morbid diagnoses and so similar to A. D. H. D. And turrets. We see a lot more, A lot more of this now um than we did, you know, 10 20 years ago. So depression is um um sort of estimated at about 10-50% depending on the age in which studies you look at and then about 80% with some formative an anxiety disorder most commonly separation anxiety. Um O. C. D. Although CD is challenging because honestly the criteria for O. C. D. Are also sort of ingrained and embedded in the diagnosis for autism so that one's a little more challenging. Um And then social phobias is quite common. A typical sensory processing similar to O. C. D. This is a core feature of autism. So it's only been recent that we've sort of pulled this out and and started yet Morris pathology rather than just a part of autism. We know that there's different forms of sensory sensitivity and we know that the higher the sensory issues are, the bigger the impairment is and the lower adaptive functioning the child. So whether or not to treat the sensory processing really gets at the core of the quality of life of the child. And if they have overall decent scales are relatively high functioning. Can you better further improve that by addressing some of their sensory issues. Um Since it's relatively new, there are still multiple scales are being used and sort of tossed around is how best to evaluate. The more common ones are the sensory profile, this short century profile and they've sort of been adapted to the autism population treatment. Again, here's the gold standard here is non pharmacologic. The hard part is that um that the practice occupational therapy that has been done, It's called Century Integration intervention um Similar to feeding therapy and aversion therapy. It's a lot of exposure and um sort of like A. B. A. With a discreet trials very similar to that. Um But this is something that's been around for for decades. I mean I think um I think it was first that I forget her name, but the the occupational therapist, the doctor who first started this Um I want to stay in the 70s. It's been around that long, it's just not until recently that doing some of the literature reviews. Um it's sort of like a Cochrane review, it's been now it's deemed evidence based medicine. So when you recommend integration, sensory integration, intervention, it's it's um it's certainly got it's got its merit. Um There are there is good evidence to this and and doing it, the hard part is finding an occupational therapist who actually is knowledgeable in doing it. Um But I think most academic centers um if you have an occupational therapist that works with anxiety or sensory sensory processing issues, they typically are familiar with it, or at least the general sense of how to do it. And then for a pharmacology similar to any child, whether or not they have autism, if there's anxiety SSR I continue to be the mainstay. Um, there is data, it's a little limited um and mix as far as the results, but there certainly is data. Um and um it's it's not, I don't think there's any autism organizations that that recommend against trial and barriers from my perspective. Um are a little less here. I mean the most most common one really is access. I mean, not a lot of neurologists are very comfortable with treating anxiety with srs unless it's related to another medical neurologic condition. Um, and so a lot of times this is managed by psychiatry and certainly access and resources to psychiatry are harder and harder to find. And then the caregiver by in and perceptions what I mean by that is helping the family recognized that their anxiety or their sensory issues looking at them as something separate from their autism. To help them understand um what the child is experiencing. And certainly we know that the higher functioning the child is the more likely they are to have anxiety. Um and so um talking to the child and recognizing that while they have these features where they I would prefer to be separate or to um sort of isolate they still see themselves as different and so higher patients are higher functioning autism have a lot of anxiety around that perception and the awareness that they struggle with social interactions. Um They can be very hard to diagnose because we're often especially in patients that are non verbal were interpreting a lot of their physical symptoms and especially with O. C. D. Howe I mentioned it's a sort of a core feature of autism. The repetitive behaviors in um the compulsions and obsessions in a normal functioning patient without autism they're quite unwanted. They're intrusive. They don't enjoy those behaviors. But when you have a child with autism sometimes repetitive behaviors are actually quite welcomed and helped to distress the patient. And so while you're seeing the same physical presentation the internal environment and emotional response can be quite different. So addressing anxiety can be challenging in these patients to say the least. Um The last Cochrane review on SRS um This one I want to say is from 2013 I think. So it's you know we're sort of getting close to having a new one. But 2000 2013 was the last one and argued against SSR eyes. But that wasn't necessarily um that review wasn't necessarily taken kindly by some of the other uh, organizations that that really treat and, and speak out for patients with autism. Um, there's been some newer studies looking at specific populations in specific situations, are trying to find subsets of patients with autism and rather than treating any patient with autism under the umbrella term, looking at high functioning with verbal skills or, you know, what have you to see if we can address. Um, that type of anxiety. And those newer studies that were a little better designed, um, are showing some promising data. The hard part about the studies similar to all of them is that the sizes are pretty small. It's hard to recruit. And again, we're looking at parental report as the primary primary outcome measure as quite challenging to use that subjective data. Alright, the next behavior that we um, that I'm going to talk about is the self injurious behavior. Um A lot of patients have this uh it's inversely associated with speech. So the more severely impacted someone is by their autism, the more likely you are to see um aggression and self injurious behavior. Um It's also associated with impulsivity. Um So even if you have a child that's high functioning with A. D. H. D. Is quite high, you you will see a lot of aggression. The thing to remember is that it might be a marker of low mood. So while you're seeing aggression as the primary symptom, you have to go back and think just like in the last couple slides about anxiety and depression could it be better treated not within typical antipsychotic but with an ss ri or a mood stabilizer. And that's one of the challenging features here we know from other genetic syndromes like trisomy 21 fragile X syndrome um and a couple other developmental disorders uh especially in patients that have um better language skills, that self injurious behavior, particularly um biting and head banging, um tend to be markers of low mood. That's why I'm patients with autism. It's just something to keep in the back of your mind. Should I be thinking about um this as a as a symptom or a sign of something else? Not just the behavior um To treat this, this can get quite challenging mainly because we're often trying to find these triggers and sometimes it looks like there's none of the parents often tell me, oh gosh, it just comes out of nowhere. They just had this random meltdown and I have no idea what's wrong. I try and ask them and that, you know, they can't get any clues. And so it's a lot of detective work for the families trying to identify any organic triggers. Oftentimes it's pain, things like constipation. Um You have to think about uh a lot of times these patients have poor dental health. And so we see abscesses, we see teeth that are infected, um cavities. Things like that can all be triggers for the self injurious behavior. So you have to remember, you always want to try and look for triggers first and foremost when you can't identify triggers and it just seems to be sort of an ongoing pattern. It doesn't seem like the child is are really anxious. Um Then we move towards the occupational therapy and against sensory integration is the primary type of occupational therapy that tends to be helpful. Um mainly because it's it's constantly introducing the child to the specific situations that they're going to be in when they have this behavior and trying to do it in a controlled manner and then helping the families identify, um, successful redirection strategies. Sometimes, unfortunately, it is just using an ipad and giving them a screen to look at if it means they're less likely to hit someone or bite someone. But other times it's just a change in scenery. Um, a lot of times kids have decent receptive language and so and talking to them and and helping them change the scene by, hey, let's go outside or let's go find your favorite stuff here. Let's play with a dog trying to redirect that way. It can often be helpful. Um, the pharmacology here, this is really the oldest section because with autism, um, you know, when it was first diagnosed, there was not a lot of thought put into caring for these patients. They were often medically treated to suppress a lot of their behaviors. And so there's been a there's a lot of data a lot of literature to go through but really for aggression and S. I. B. We use beta blockers. The atypical anti psychotics. Um The antidepressants and mood stabilizers are relatively newer in trying to address this. But they've got decent literature, decent data behind them that that is promising. And then one of the newest things neuromodulation. So patients that have severe aggression and injurious behavior. Um They have done trials of E. C. T. Which electroshock therapy. Um And it has quite a dramatic effect. The problem is that there's not good evidence. These are very small studies but how often it needs to be repeated and what the long term effects are on the developing brain. Uh So this is used more often in adults. Um And it's again very small numbers that have done it. But the results are quite promising. And then, as I alluded to earlier, the biggest barriers are education um around triggers routines. And really it's it's sort of re education a little bit when when I say that giving them a screen is is helpful. Well then you have to go back to the root behavior. Why do they have so much screen time? And so a lot of it is helping families come up with healthy routines and appropriate um age appropriate behavioral interventions. Okay. And then the last behavior to touch on is our ticks and 80 HD. This is really new because the D. S. M. That changed in 2013. Prior to that we couldn't make this diagnosis and a th and in autism. So, um there's there's new data here really point about there's there's old evidence and studies looking at the impulsivity um in autism but not really the ticks in the 80 HD portion portion. Um So about 40 to 70% of Children with autism are estimated to have A. D. H. D. About 20% with a tic disorder. Um The part of the reason for concern here and why I like to talk about this one is we know that patients who have A. D. H. D. Have a significant delay in their diagnosis of autism. And that's upwards of three years for boys. Around one year for girls because the way they manifest a THC symptoms is a little different. Um But really having co morbid 80 HD is a challenge because a lot of the features of autism are mimicked by A. D. H. D. And so trying to tease those two apart and really Um identify is it truly a core of autism with additional 80 H. G. is challenging. And so these kids often get delayed in their diagnosis. Um We know that similar to what I mentioned with with O. C. D. That the um the scales and the patient interviews that we use For those conditions like 80 HD ticks, obsessive compulsive disorder. They don't necessarily reflect accurately and patients that have autism. And so they might meet criteria again just based on the surface but that's not really what's going on in that patient with autism so challenging to make this diagnosis. But when you do and when you address it it can certainly help with behavior. We know that impulsivity and autism increases the risk of injury. Uh It increases the risk of flight which is a whole another issue that parents struggle with. Um And so trying to improve impulsivity can certainly help with that. And lastly, poly pharmacy. So a child that has autism is often on something for sleep, there, often on something for their aggressive behavior. And if you throw impulsivity in 88 you into the mix. It just adds the medicine that they're wrong. The treatment for 80 HD is a bit unique because while everything else is really behavioral, there's not great evidence that the interventions we use for A. T. H. T. Excuse me for autism, have any benefit for their 80 HD symptoms. And so while I'd like to say we could try something that's behavioral. There's really no evidence that behavioral interventions help with impulsivity. Um, it's in the 80s and in the autism specific population, certainly in the 80 80 population, there are environmental things. You can do changes. You can make those just don't pan out with the autism patient. So we rely a lot on pharmacology and specifically methylphenidate is one of the most common stimulants used. And it certainly can reduce impulsivity doesn't necessarily impact the overall function or the asd symptoms. But that reduction in impulsivity does improve the safety for the patient with autism. And then, uh, adam Occitania, relatively newer one. Um, it's a nice one to use because it's it's certainly had in the studies that have used small studies, but the ones that have used it, um, looks like there's a decrease in 80 80 symptoms. And it's nice because it's sleep neutral. So if you have a patient that's sensitive to the stimulants, it's a good option. All right. And just one quick slide here on this. Um, when we're talking about these behaviors, one thing we always have to keep in mind is what is the developmental age of this patient? So, yes, they have autism. Yes, they have difficulty with their social skills, communication skills, but if the child has other global delays and really they're a 10 year old, but they function more like a three year old, then I would expect them to have three year old behaviors and that includes tantrums that includes separation anxiety. So trying to identify if that behavior is pathologic, really depends on how much it interferes and disrupts their daily life. And so some things if you can, if you expect that child to continue making gains and making developmental progress, sometimes it really is best just to sit back, help the patients with some behavioral interventions or modifications for the family to see if they kind of outgrow it. Um it's it's a very fine line to walk with some of these families and some of these patients, but really it is in the best interest of the child to see if there social skills improve as their developmental age increases. Um And then in addition to the developmental age, the other thing you have to keep in mind is the other exacerbating environmental factors and by environmental um I mean just looking at the whole picture, is it truly a pathology of the child or is there something in the home environment that's bringing out that behavior? And so it's not the child looks like it's a pathology that their behavior is not what you want to see, you want to treat that behavior. But really what needs to change is the parenting style or whatever environment they have at school or at home. Yeah. Alright. My rules when treating uh and I I say this with all the families as well, so they understand that we always look for underlying things. Pain infections, with the nutrition stuff especially we look for other metabolic issues, hyponatremia, things like that. That can really lead to some of these behaviors. I always tell them that my first line is going to be behavioral and if they don't want to try the behavioral, they're going to have to see someone else because that truly is the primary starting point for these families. And then if they're doing good with behavioral, but there's still some room for improvement. Then we use pharmacology to enhance that therapy. Um Just for you guys, if you do end up starting any medications, just to remind you this population is very sensitive to side effects. So the mantra is to start low and go slow. All right with that. I will do a quick overview of the pharmacology mainly because I don't expect um I don't expect you to be that familiar with this but I want you to know some of the things that we use because if you are trying to help temporize these families as their, you know, the first line out there that I want you to know what we, what we typically use. So we have antipsychotics, the alpha agonists, stimulants, SSR is beta blockers and mood stabilizers. So for the anti psychotics, if you were going to use this what you need to know, you have to get an e K. G. They need a cholesterol panel in a fasting glucose and then a one c. And most insurances, especially the state insurance is depending on where you are. They will not approve this medication if you're not getting yearly surveillance labs because these kids are at risk for dysrhythmia, says they're at risk for diabetes and high cholesterol, The most common woman, This is respirable um main side effects weight gain and aka these are the ones I see most often. We use quota hopping mainly for sleep and their papers are Abilify is used more often in patients that are higher functioning. And they've got some like sort of O. C. D. Type symptoms. They just need a little bit to help them quiet the internal stimuli to improve their function. Okay The next one is your alpha agonist. Uh This one with this class you do want to check blood pressure and especially with quantity. And I would consider getting E. K. G. Mainly because there is a reported risk of A V. Block with cloNIDine certainly doesn't happen very often with Patrick's. But um I generally practice precaution and so I get an E. K. G. With most kids before starting alpha agonists. You do see some sedation and some gi upset with these. But general these are very well tolerated medicines. And then the last thing I would say about cloNIDine. This is when you certainly want to taper off of because you can't have withdrawal symptoms from quantity stimulants plus. Um this is mainly methylphenidate. Uh you want to monitor blood pressure and weight because just like any other child you guys do with A. D. H. D. Their patients with autism are at risk for the same side effects. And so it decreases appetite and that the ad allergic effect can increase blood pressure. There is a risk of sudden cardiac death in adults. Um There are good studies on this in pediatrics and that has not been demonstrated. So this is not typically uh one of the things that I talk with parents about I bring it up but it's not typically a concern because it's not been demonstrated in Children Item oxygen is a nice one because it is not a stimulant, but you still get some benefit for the 80 HD symptoms. Um, but it can cause some headaches. And if you have a child that is nonverbal headaches can be hard to diagnose because they don't always tell you what's wrong and can cause a lot of behavioral symptoms. Antidepressants. You guys are very familiar with these. Um, there is the black box warning for the autism patients, Just like any other pediatric patients, increased risk of suicide, you have to tell their families about it. But again, depending on the functional status of the child, it may or may not be an issue, especially in patients that are using other medications. Some anti psychotics and especially stimulants. There is a risk of serotonin syndrome when you use antidepressants. So that poly pharmacy is certainly important to keep in mind. The, I think the one that has the most data is the telegram. Um, and then Venlo vaccine is one that's got emerging data just because the norepinephrine serotonin added peace there. Um, these are used sort of interchangeably. Uh, it depends on how sensitive the child is to the activating versus the dating side effects. What I'm starting any of these, what I tell families is to pick a random saturday and give it to them on a saturday morning and then if the child is tired, then they would transition and give it to him on sunday night. But if the child is activated by it somewhat, we often see in FLUoxetine, um, then they would continue giving it to them in the morning. But just because it's a common side effect for the general population does not necessarily mean that's what you're going to see in the patients with autism. And then our beta blockers, you guys probably have more experience with beta blockers than I do just for other purposes. Um, but for um, some of the self injurious behavior more commonly what we use this, you do want to monitor blood pressure and you do want to wean off of them so you don't get the rebound hypertension. And I put dozing on this one just because you guys are familiar with beta blockers for blood pressure and other issues. But for behavior, the dose is slightly different. And then lastly, our mood stabilizers, um, these are sort of an emerging class to be used in patients with autism. So the data is much less, but very promising for the most part, um, with these medicines, we do typically get baseline labs because they can't have some metabolic arrangements. Sometimes these medicines are a harder sell to the families because of the side effects and specifically the risk of stevens johnson syndrome with um with Depakote and lenotre jean. Um It's rare but it certainly is is worth having the conversation. Um And then the fact that you have to do surveillance labs with some of them. Um Sometimes families are a bit against that depending on the functional status of the child, but pretty good evidence in using these medicines. So when do you use each medicine? Um This is probably the most helpful slide here. So if we're dealing with aggression, then typically it's atypical antipsychotics, mood stabilizers and beta blockers. I'm not going to read the slide word for word for you, but I thought I would lay it out that um this is if I'm seeing a child and they have X behavior. these are the medications that I'm typically going to consider now that is all the information that I have to share with you. But I want to make sure that you guys are aware that UCSF is open. I know a lot of clinics are virtual. Um but specifically for neurology we're seeing patients in person. Our availability has not changed at all. So each neurologists in our department has at least one day, if not more of in patient visits or in person visits and then the same amount that they had pre covid. They also have as telehealth visit. So if you have any concerns or questions, we welcome you to refer to neurology. We're open and we're happy to help. So this slide just has our referral information for U. C. S. F. In general. And then if you have specific questions about the neurology department, the pediatric Brain Center at UCSF does have two locations. We've got the East Bay at the Children's Hospital in Oakland and then we've got the mission based campus in SAn Francisco. In addition, we have satellite clinics throughout the East Bay. I know um tablets I mentioned at the beginning, I see patients in SAN Ramon and Brentwood in addition to Oakland, And if you have questions, you can always get 24 hour support through our access line And we have a PVC specific access line. In addition, that is available 24 hours mm.
