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Welcome to SCN2A Insights, bringing you the latest research and clinical updates on SCN2A and genetic epilepsy from around the world.

Dr. David Cunnington: Hi, I’m David Cunnington.

Kris Pierce: And I’m Kris Pierce. So in this episode, we’re going to talk about Sleep in Autism. Many of our families who have genetic epilepsy, children also have a presentation of autism, or comorbidity of autism and sleep is often very challenging.

Dr. David Cunnington: So I had the chance to interview Associate Professor Amanda Richdale from LaTrobe University in Melbourne, Australia. And Amanda does a lot of research into autism, particularly looking at sleep.

Thanks very much for helping us out, Amanda and talking about sleep in kids with autism. What actually is autism?

Prof. Amanda Richdale: Autism is a neurodevelopmental disorder with probably multiple causes that lead to a final diagnosis of autism spectrum disorder, as it’s now called in the Diagnostic and Statistical Manual of Mental Disorders in the Fifth edition, which is the Bible that psychologists and psychiatrist in Australia would use.

It is typically diagnosed in children. Some people don’t get diagnosed until well into adulthood. They’re not picked up that sometimes people with severe intellectual disability, sometimes people who any otherwise very able. It has two core features, one to do with social communication difficulties, and the other one’s got to do with repetitive behaviors and interests and sensory, sensory interests and sticking to routines, all of those sorts of things.

It’s thought to be a lifelong disorder. Though many people do very well, a lot of people also require support throughout their lifetime. It can be associated with intellectual disability, but many people with autism have normal cognitive functioning, so they don’t have an intellectual disability. And most, many people with autism will have at least one other co-diagnosis.

So often, anxiety, depression. They’re often mental health problems, attention deficit hyperactivity disorder, sleeping difficulties, and gastrointestinal symptoms are among the most common comorbid conditions. Also, epilepsy, which, of course, can affect sleep in children. More commonly, anxiety and ADHD, sleep problems are lifespan problems. Depression tends to develop in older children and through adolescence and into adults, and gastrointestinal problems are quite common.

Dr. David Cunnington: Of the sleep problems that you see in kids and adolescents with Autism, what type of sleep problems do they get?

Prof. Amanda Richdale: The most common ones are to do with insomnia symptoms. So the most common differentiating issue that we find in our sleep research is if we were to take a group of children with autism and take another group of children, the children with autism take a long time to go to sleep.

So sleep problems associated with sleep onset latency, they also commonly have shorter total night’s sleep, or sleep efficiency, significant night waking, too. But in some ways, that can be different. So if you were to look at the absolute frequency of night waking, it might be similar to other children.

But there are these children and sometimes adults, particularly with intellectual disability, who may wake up for quite extended periods during the night, get up, disturbed the house, engage in disturbing, various disturbing behaviors, and that did these for the last few nights for an hour or two. So that’s very disturbing for families.

And there is also another sort of subgroup of children who tend to wake up very early in the morning, so before 5:00 AM. Most children wake up after 6:00 as a group of early wake up, sunrise wake up between 5:00 and 6:00. But these are children who may wake up at 3:00 to 4:00, 4:30 in the morning, and they’re not going to go back to sleep.

Dr. David Cunnington: And what are some of the factors about autism and kids with autism that might lead to sleep difficulties?

Prof. Amanda Richdale: Well, this is one of the things that people are still looking at. So researchers are looking at genetic, potential genetic causes. They’re starting to look at genetic links. They’ve been looking actually from microstructure, which is not particularly my area because I’m essentially a psychologist.

But there have been some REM, non-REM, and sleep microstructure differences reported in literature, but they tend to be small studies with small groups of children and tend not to necessarily be easily replicable. But there is certainly some suggestion that there aren’t many sleep differences in PSG.

In terms of behaviors that might be associated with certain challenging behaviors are very much associated. Behaviors like that are associated with our sleep problems. ADHD behaviors are associated with sleep problems. So attention hyperactivity, or inattention and hyperactivity, anxiety, and depression.

So all the usual suspects that we actually see in typical populations. But we see this problem starting from a very young age. So there was a very interesting longitudinal study out of the UK by Humphreys and Colleagues a couple of years ago, and I follow children from infancy, I can’t remember exactly, it might have been below 12 months.

So they wouldn’t have a diagnosis at that point, but they followed a large group of children 2 through to 11 years of age. And they found that in children with autism, their sleep was starting to look different from about age 2, 2.5. And the two variables from memory that they looked at were sleep onset latency and total sleep, and they remained different from the non-autistic children in that study, right through the age span that they were using.

It’s something that starts early in young children, it just seems to be associated perhaps with more severe symptoms of autism. Once they get a little bit older, it seems to be quite closely related to anxiety. And we’re very keen on looking at arousal mechanisms, because some evidence that arousal mechanisms might be different in people with autism. And certainly, in older adolescents and young adults, we’ve found some nice relationships between arousal and pre-sleep arousal.

Dr. David Cunnington: And certainly in my work as an adult sleep physician, when I’m working with adults with autism, I’d sort of characterizing the difficulties I have as difficulties with self-soothing. So there’s something about and sometimes the cognitive processes that just don’t allow self-soothing.

And then sleep study stuff, physiologically, there looks like hyperarousal or more of that sympathetic nervous system drive. And I don’t know how much of that is an inability to self-soothe that drives the hyperarousal or the hyperarousal that makes the self-soothing, difficult, and it’s hard to tease out?

Prof. Amanda Richdale: That’s a big question. That’s certainly all about doctors at the moment and has been for the last few years has been pointing in the direction of arousal mechanisms. And some of the overseas data that’s been coming in is also pointing at the issues of arousal mechanisms being involved in very young children, you know, some of the issues, too, seem to be self-soothing.

But then it is in very young children anyway, so what’s different about children with autism? I am predisposed to be more aroused, and that leads to sleep problems. Or during young children, there’s also some suggestion that they’re not picking up the environmental cues to set up good sleep routines. They’re not understanding what’s going on in their environment. They don’t like environmental change, they’re not attending this, they’re quite withdrawn inside of themselves, so to speak with some of the young children, sleep is almost any interruption to routines.

Dr. David Cunnington: So you talked a bit about arousal mechanisms, you also recently published looking at circadian factors in adults. What did you find with that work?

Prof. Amanda Richdale: Yes. We certainly found which we– isn’t reported so much in children. We found a high proportion of the adults had circadian sleep-like rhythm problems. But there wasn’t a lot of evidence for melatonin on problems, which I had always thought might be a problem that there might be something like the melatonin rhythms.

And colleagues in the US, Beth Mallow has looked– and her colleagues have looked at melatonin in children, and in their particular study, they didn’t find any troubles either. Other people have earlier found difficult differences in melatonin, but some of that could be accounted for, by the way, and approached their design.

And we certainly… all right, explaining it a bit perfectly. But we did try and be as rigorous as we could, but it’s quite difficult to do that kind of work and to get that kind of result, but very much delayed sleep phase and delayed sleep-wake rhythms. But some people with advanced rhythms and others who also had significant mental health problems with them, non-24-hour or irregular sleep-wake rhythm.

Now, you see, we see a few children with delayed sleep phase, but we found that 44% of the adults have a circadian rhythm sleep disorder. We’re actually hopeful that a paper published shows that that’s actually potentially associated with one of the things that are associated with unemployment.

This may happen, if we think about what happens to adults with autism, they’re often underemployed or unemployed, their life has– it’s not regulated, it’s not routine so they have a tendency for them to get out of phase with society. If they’re not going out and doing things on a regular basis, they don’t have routines, they’re not employed, and so on.

That requires obviously further investigation as to whether that’s the reason whether it’s actually a social reason because I still have symptoms of insomnia that we see in the younger children. So they have the symptoms of insomnia, but on top of that, they have these like wake rhythms, a proportion of them have the sleep-wake rhythms. So they’re now somewhat out of phase with society. And that might be just an added social impost.

Dr. David Cunnington: Yeah, I don’t think that’s hard to tease out, because I see that in clinical practice as well, and how much is difficulty with arousal or not switching off and self-soothing, and also not a fixed arising time, that’s going to naturally make sleep onset later, and then arising time later. So how much is a primary circadian sort of piece and how much is more social and mediated by arousal? I think that’s hard to know.

Prof. Amanda Richdale: And given that we don’t see in the literature reported a high percentage of circadian problems in the younger children, but we’ve seen so many types of problems. But now in this adult population, we’re starting to see circadian problems tend to lead one to think that there’s a social– there’s a social cause behind the increase in circadian problems.

Dr. David Cunnington: If clinicians are working with either children or adults with autism on sleep problems, how might they modify what they do if they’re working with people with autism as against working with others without autism?

Prof. Amanda Richdale: They need to take into account the potential for the person’s social and communication difficulties. Start with young children, working closely with parents and setting up their time routines, and using communication systems so that children can understand so. We, in the past within research, and we may well have talked about this, too, we set up a series of the pictures showing what the child had to do and model the steps were with a little star chart with rewards.

Now, depending on the intellectual level of the child where the child’s got significant communication, intellectual disability or not, you know, and modify, again, how you do that? So you have to look at the individual child, but we need some really good cues. You need to make sure that the language you use is understandable, and that they’re not ambiguous.

We need to take into account the person’s anxieties. So we need to take an individual approach that takes into account the specific symptoms of the person themselves with autism. When we work with families, we need to look at what the family’s goals are, what would be good for the… what the family feels would be goals.

So they may not want to cure or treat everything, because they often got a lot to deal with. So they might want to just deal with getting a child to bed and to sleep quickly so that they’ve got a quiet and peaceful night. And that might be sufficient to provide them with a lot of stress relief. And if the child’s going to sleep more quickly, the child is getting more sleep that night. It’s an individualized approach that takes into account in particular, the core features of autism.

Dr. David Cunnington: Thanks very much, Amanda.

Prof. Amanda Richdale: OK.

Kris Pierce: So what were your take-home from that podcast, Dave?

Dr. David Cunnington: Yes, we talked about autism can be a real challenge and make it difficult for carers. And so some really good tips in just understanding the mechanisms of why sleep might be challenging in autism, which in turn, makes it a bit more logical about some of the things that can be done. And demystifying sleep if you like, rather than feeling like it’s something that’s just something we can’t approach or don’t have a strategy for.

Kris Pierce: Keep up to date with the latest information by subscribing to this podcast. You can also get regular updates through our social media at SCN2A Australia on Facebook or SCN2A on Twitter and SCN2A Australia. You could also email us at podcast@scn2aaustralia.org. If you would like to be involved in our podcasts or have a suggestion of someone you’d like us to interview.

Dr. David Cunnington: Thanks a lot.

This podcast is not intended as a substitute for your own independent health professional’s advice, diagnosis or treatment. Always seek the advice of your physician or other qualified health provider within your country or place of residency with any questions you may have regarding a medical condition.