Transcription
It's my very great pleasure to welcome Dr. Honey Hler. We are so fortunate to be here together with Honey and to benefit from her immense knowledge and experience working with individuals and families affected by Fragile X and sleep issues.
Um, and our second guest speaker tonight is Dr. Jaz Ker, who is also a pediatrician with sleep expertise and a colleague of Honey's. So Jaz will talk us through a new sleep study on sleep, sorry, a new research study on sleep disorders, which parents of children with neurodevelopmental disorders like Fragile X are welcome to participate in.
So, Dr. Honey Hler is a behavioral and developmental pediatrician and a recognized specialist in Fragile X syndrome and other neurodevelopmental conditions, and in sleep medicine. So, Honey is very well respected internationally and in Australia for her research and clinical work in these areas. She is an Associate Professor at the University of Queensland and oversees the sleep and, sorry, the Fragile X and sleep clinics at the Queensland Children's Hospital. She's well known to many of the Fragile X families in Queensland, as many of their children have visited Honey's clinics over the years. Honey also previously served on the board of Fragile X Association of Australia. Uh, so is in great demand as a speaker, so we are grateful that she has made time for us tonight to unpack the sleep issues so many of our children with Fragile X experience and to outline helpful strategies that support good sleep habits. So, over to you, Honey.
It's, it's very interesting to be regarded as an expert in this, because I actually think families are the expert in sleep disorders in Fragile X. There's been a little bit of research done, but in terms of what works, actually, we need to come back to the families to try and explore that a little bit more. I'm going to try tonight to help you with some understanding of Fragile X and why sleep disorders can be so problematic, and try and talk through some strategies that we use in many disorders to try and address the sleep problem. So, let's work it through, and I'm going to be reasonably practical and pragmatic, but also try and give you some information at the same time.
But first of all, I do need to tell you about some conflicts of interest, really. I'm also our principal investigator on a number of pharmaceutically sponsored trials. So, you know, this is something we always need to declare. And in particular, the Zelda pharmaceutical trials with CBD have been and are currently being conducted in Fragile X, but lots of other clinical trials that we're running in autism, Angelman syndrome, Rett syndrome, etc. So, just really important that you're aware of that. None of it's paying me, but it is funding the team here at the Queensland Children's Hospital.
So, why sleep? Okay. I think, you know, these days we live in a 24/7 society, and we do need time to rest and repair. And all our cells all over our body need that time. Sleep's really a time of psychological processing, memory consolidation, and trying just to make sense of the day. So, it's time for cells to rest and recuperate. It's also a time when we stabilize hormone production: growth hormone, cortisol, puberty hormone, a whole bunch of things that regulates, regulate our function as a body, but also cellular repair and growth. So, really important things happen in sleep. And in fact, without it, the human organism wouldn't survive. So, it's really important that we actually try and maximize sleep to the level that which we need to function well during the day. That's probably my first tip is, is if you're getting enough sleep, you will be functioning well during the day. So, often sleep physicians will ask you, what's daytime function like? So, if they're not sleepy, not buzzy, and functioning really well, then probably they're getting enough sleep. So, we need to just go through that a little bit as well.
Sleep disorders commonly are responsible for a number of things that go wonky in our lives, both for children and adults. There's evidence for effects on mood, increased irritability. And those of you that have done shift work or, you know, had poor sleep yourselves will know how cranky and irritable you can get when you haven't got enough sleep. Children are just the same, I might add. Behavioral manifestations: there's pretty good evidence around increased impulsivity, hyperactivity. So, kids don't tend to get sleepy too much in terms of like around and go to sleep necessarily. What they may do is get really buzzy instead, but still be overtired. Most of you as parents will realize that mood lability and inattention are really common. Decreased in terms of neurocognition, the sort of jury is still a little bit out as to how much it sort of impact may or may not impact IQ having decreased sleep or broken sleep, but we do know that there are impacts on decreased cognitive flexibility, so your ability to flex and think about things differently and cope with change, and all of those sorts of things can be really important. And then other effects on the cardiovascular, immune, metabolic, you know, a whole bunch of things. But what is really tricky is that a number of those things also impact on sleep. So, if you've got poor mood, impulsivity, hyperactivity, they also impact on sleep. So, in some respects, it often tends to be a bit of a circular argument at times. So, we often try and intervene at multiple points to think about how we can actually make life a little bit better.
When we think about normal sleep development, when we're first born, we have what we call a very immature sort of EEG, which is how we measure sleep. And so, we tend to mature that very, sort of slowly in some respects, but it kind of reflects brain development over the first 12 months or so. But by about six or nine months, you're generally falling into a bit of a daily rhythm. There is virtually no rhythm before the age of 12 weeks. So, anybody that tells you you need to train your child to sleep before 12 weeks is talking rot. You really need to sort of take some time to get through that phase. And then, then start to, as you move through those 12 months, see you can get a slightly better rhythm. We do know that in kids with neurodevelopmental disabilities, autism, of which Fragile X is one, we do tend to get, um, different development in some of those sleep stages in the first 12 months. So, sometimes we can pick these things up really early.
We do know in sleep that we have a number of different sleep stages. And you can see here, we go from wake to light sleep to moderate sleep, and then down into deep sleep, which we now call all of that is stage three or slow-wave sleep. And we cycle through these stages during the night. It's important to remember that because as I come to the next slide, you can see what a normal sleep pattern is for kids. And so, when we think about what's abnormal, we have to understand what's normal first. I use this a lot in clinic because what you can see is this cycle of your sleep pattern during the night. Slightly more deep sleep at the beginning, slow-wave sleep at the beginning of the night, slightly more REM at the end of the night, but it runs in a cyclical pattern. Now, it's really important when you think about this is that these black bits are all wake times or arousal times. And that is normal for most of us. We'll arouse and open half an eye and go, "Oh, yeah, all right with the world." The kids aren't making it up. We'll go back to sleep, okay, without even thinking or necessarily even being aware. But for a young child who might have gone to sleep in Mom's arms or on the couch, and then being transferred to bed, and so they wake up in the middle of the night, there's no noise, no Mom, no nothing. All of a sudden, they're wide awake, okay? And so that's when they're wide awake and potentially needing resettling or having trouble getting back. So, it's not the waking that's unusual, it's actually the time taken to get back to sleep that's the problem. So, for those of you that are trying to deal with kids that are waking frequently during the night, it's about how we can teach them to self-settle when they do wake, because waking is normal. It's the getting back to sleep that's a bit tricky. So, just, that's one of the clues in terms of thinking about nighttime waking. Sometimes it can be more frequent, sometimes there are things associated, and I'll talk through some of those things like sleep association problems a little bit later.
The other question comes up as to what is normal sleep. And coming back to what I said before, what is normal is actually what is normal for this person. We talk about a range of normal sleep, but what you need is enough to get through the day and to function well. And, you know, function well during the day. When we think about amounts, you can see there's quite a wide variation of nighttime sleep duration. So, when you're about five, you can need anywhere between 9.5 to 12.5 hours sleep, okay? As you get older and as a teenager, you might need anywhere from 10.5 to 7.5. So, it varies. And all of these within there are within normal limits. But what you might find, for example, is a 13-year-old getting, you know, seven and a half hours sleep, but actually really tired during the day. So, either they've got abnormal sleep, they might have sleep breathing problems or something, or they're somebody who needs more sleep. So, these graphs are just broadly representative, and I don't think, you know, they can be helpful as a broad guide. But actually, if your child is okay on the graph but still tired during the day, that's actually more reflective of a sleep issue.
The other important thing in these graphs is that the really key feature of this graph here where we're talking about daytime sleepiness. And when you look at the far right of that, what you see is that even at age four, there's probably still 50% of the population that need at least an hour and a half sleep during the day. Now, this is a time when our kindies and things are, and we're preparing kids for school, and so kids are often being pushed into dropping daytime naps. And so, it's really important because at this time, if you're overtired, all of a sudden you may start to see things like night terrors and sleepwalking, and things start to occur because kids are overtired. So, they're sleeping really deeply in their slow-wave sleep. And sometimes that can be fixed completely just by making sure we have a daytime nap for those kids that clearly still need it. So, just be wary of the kid who's in prep or just coming up to that age who's all of a sudden developed significant night terrors and things. I'm a great fan personally of the daytime nap, but actually, it can really help in that circumstance as well.
So, when we think about the impact of these things, what we think about is those increased daytime sleepiness, attention, focus, mood, and then some of those other things, such as immunological, hormonal impacts as well. We know that with sleep-disordered breathing, so obstructive sleep apnea, you can get problems with oxygenation, carbon dioxide. And we're not 100% sure of the longer-term outcomes of those. We know what the outcomes are in adulthood, but what are the longer-term outcomes in pediatrics? We're not 100% sure yet. But there are close and complex relationships with various developmental stages, various phenotypes such as autistic-like phenotypes, mental health problems, and chronic illness. In some respects, still a bit of chicken and egg, and, you know, needing understanding a bit more clearly.
So, if we come back to Fragile X, I'm not telling you anything about the sort of incidence and things here. But fairly common disorder, relatively. But amongst neurodevelopmental disorders, the sleep problems are not that different to many other neurodevelopmental disorders. So, neurodevelopmental disability tends to commonly have sleep difficulties. Why we're not entirely sure. And maybe it's just different brains and different aspects to that over time. Maybe even it's just immaturity. We do see some kids that are still following a really immature sleep pattern who might sleep in four-hour blocks at the age of five, but who are probably functioning as an infant at that time. But for Fragile X, we, there's varying reports. We think sleep difficulties are reported in around 27 to 77%. So, for those of you that haven't got kids with sleep problems, you're in a small minority in the Fragile X world. Commonly, this is about sleep onset, getting off to sleep, and being able to maintain sleep. Most studies are surveys, and for Fragile X, some of this data has come out of very non-specific sort of big surveys of neurodevelopmental disorders. So, that's why there's quite a bit of variability. I think there's often complex relationships with a number of genetic variations that regulate our sleep rhythms and other mechanisms as well.
So, when you think about it, you know, in a typically developing child, you know, 25% of them will have a sleep problem at some stage. And Fragile X, as a whole, it's reported somewhere between 27 to 77%. In Fragile X with no ASD symptoms, it's much lower. Fragile X with ASD symptoms, quite a deal higher. ASD, 40 to, so autistic spectrum disorder, 40 to 80%. Rett syndrome, 49 to 77%. And then there's a couple over here on the right where sleep disorders are just part of life and part of what they deal with. So, you can see with Fragile X, there's already a little bit of variability depending on the phenotype of your individual that has the Fragile X mutation. So, really, these sorts of things are going to be really important when we think about how we tackle the sleep problem for the child.
So, what sort of sleep problems do we have in Fragile X? This is a study, a large-scale parent survey done in the US. And I, I bring up a few tables along the line here. But what they clearly found was that there was no particular gender differences. Some mild associations with sleep problems and age within the male group, but not hugely different to females on the whole. A longer time to get to REM sleep and slow-wave sleep. So, what that means, this is in another study, actually, but it means that instead of cycling through as quickly as we saw in that typical, um, graph that I showed you before, it takes a slightly longer time to get to the deeper part of that cycle and then back up to REM. And certainly more disrupted sleep. It doesn't tell us exactly why. What it does tell us also in this study is some of the things that seem to relate and predict sleep problems in children with Fragile X. And these are generally overall health conditions. And we know that because they're the first questions doctors will ask: Do they have asthma? Do they have eczema? Do they have reflux? All of these things are really important to ask. The ability to listen was also reasonably significant. The ability to interact, okay? And I think that may reflect some of that ASD type of presentation or phenotype. The ability to adapt, mood most of the time. And then co-occurring conditions. Now, that's where we need to think about: Is it ASD, ADHD, medical conditions that we, epilepsies that we need to think about? So, these are all things that I would have thought would be fairly common sense in predicting somebody with a sleep disorder.
Other things reported in Fragile X are sleep fragmentation with frequent waking up during the night and poor sleep quality. That's sleep onset delay, where that's that difficulty in going off to sleep. Sleep apnea, and this is where we have snoring, pauses in sleep, and it can be relatively common in Fragile X. When you think of the typical Fragile X sort of facial features with kind of mid-face flattening and, you know, long sort of face, sometimes that sort of face, particularly if you then get a bit of weight around the neck or something, will make you slightly more inclined to have an obstructive sleep apnea type of presentation. Restless leg syndrome, interestingly, has come up in some of the literature as well. And this can be really hard to pick in children who can't, adults have enough trouble trying to describe what restless legs is, let alone kids. So, you know, in kids that are having difficulty sleeping, complaining of leg pains, needing to move their legs, they may describe them as ants in their feet, all sorts of unusual things. So, it's, it's important to think about that. Nighttime behaviors, particularly with walking or talking or night terrors. Some of that may be because they're overtired and they're not getting good quality sleep. And then some of the biggest issues, I think, and certainly my experience would suggest, is the challenges with sensitivity to sensory stimulation, and that really contributing to challenges in being able to maintain sleep or get off to sleep. To me, that's one of the biggest challenges that I see fairly frequently.
So, when we think about these studies, the things that came out of this study, and again, another US-based study, is that most kids have, if they have a sleep disorder, it's usually mild to moderate severity, often not profound, but what we would call mild to moderate. But about 50% of kids are needing some sort of sleep aid, and that's often a sort of medical sleep aid. I would suspect in children with Fragile X, a sleep problem does correlate or is associated with increased daytime behavioral problems and greater parental stress. That's not unusual across neurodevelopmental disorders, but it's always good to check that that is similar and it's not always that clear as to whether a sleep problem is actually contributing or is associated with those behavioral challenges. So, what we are seeing here is the challenges at the top here, the challenges where children are having problems falling to sleep, struggling at bedtime, nighttime wakings, seemingly tired in the morning, often a problem for the child and a little bit for the family. And quite a lot of males in particular, snoring. So, that's sort of some of the things. But where they're associated with daytime behaviors, what we're seeing is strong associations with hyperactivity, that sensory stuff, hypersensitivity, anxiety in particular, the three biggies. And then you've got some irritability and aggression, OCD and perseveration a little bit, but not as much as we would have necessarily expected. Mood swings and depression, so much more in this hyperactivity, anxiety end of the spectrum. So, always worth thinking about that.
Interestingly, there are also a little bit of research done around premutation carriers. So, for the moms out there, we know about lots of things that premutation carriers are a bit vulnerable to, including some executive function things. But sleep problems are key as well. What was a little bit unclear is: Are these sleep problems related to the Fragile X premutation, or is it related to the child's waking up all the time, or just being a mom? And that was the subject of this paper. And what they looked at was whether the premutation carrier was more sensitive to the effects of poor sleep and how that impacted on the carriers. And what they found was that the moderate range, so a copy number repeats in the 90 to 110 range, were a little bit more sensitive to the effects of sleep quality on their sort of, you know, all those things we talked about, mood, anxiety, all of those things when you get poor sleep. And so, it was kind of interesting to understand why that might be so, because the more, the higher range greater than 110 didn't seem to have as much of an effect, and the lower range didn't. So, I think there's a lot to be understood still in that space as to the effect of the CCG repeats and is that moderating or changing the effect of poor sleep. So, so that that was kind of interesting, I think, for us to understand into the future. But probably a real message for moms: look after yourself, make sure you get enough sleep is probably the key message out of that.
Coming back to the kids and the Fragile X kids with full Fragile X full mutation Fragile X syndrome, what might be behind the sleep difficulty? So, we, we think about genetics, we think about phenotype, we think about environment, all of those things. And when we think about the impact of the lack of the FMRP and its regulation and interaction with clock genes, we do know that there are relationships there. But remember, Fragile X is just one of lots of genes we carry, and there is variation across a lot of other genes we carry that might predispose us to short sleep, long sleep, all sorts of other things that we need to think about. Then we have the phenotype, because not every kid with Fragile X is the same. They're often different. Some will have more of an ADHD presentation, those busy minds running around. Some will have more of an ASD presentation with very rigid, anxious, hypersensitive kids. Some kids may have more epilepsy things to deal with. Some kids may have profound anxieties, more communication difficulties. So, how the child presents can have an impact and really targets how we might target our strategies, if you like.
When we, as researchers, actually start to look at sleep and understand rhythms and things a little bit more, and this is happening more and more in the neurodevelopmental space, we look at often look at animal studies. And Fragile X has multitudes of Fragile X animals around to try and study this right down to Drosophila, which is like a fruit fly. But the Drosophila fly actually has very similar issues to a human with Fragile X. They have circadian rhythm alterations and changes. They're hyperactive. They're not as good at climbing things. Lots of problems with social interaction and lots of perseveration. So, some really interesting things there. And some of the studies that they've looked at in Drosophila who are missing FMRP have really indicated quite significant. Don't read all of this study, all of this stuff, but the really important things is that they have noticed that in those flies that are missing FMRP, they have real problems with their clock gene and actually managing their circadian rhythm. So, and regulating how those genes work and function. So, probably this bit in bold at the bottom is, as we, we really need to sort of look at. So, we do think at Fragile X, FMRP has a really essential role in regulating some of that circadian rhythm in mammals. And that this is potentially relevant to some of the things that we're seeing. So, good genetic reason for sleep difficulties. So, that's genomics. Okay.
Then we need to think about medical environments, environmental past traumas and exposure. And then some of the specifics that we need to think about. And this is what a sleep physician will do when you go and see them. But take a really detailed history, because everybody we see is different. Even if they have a label, we really need to understand the behaviors that are presenting. We need to understand sleep and think about an individual approach that will work for that child and family. There's no point in telling a family that is really stressed and, you know, on the verge of homelessness that they need to wake up every 30 minutes and do something with their child. It's not going to work. We need to really be very practical about how we manage these things. We need to understand family setup, what developmental stage the child is at, what insecurities or separation challenges they feel, what anxieties and obsessions, what calms the child? Is this just a child that has a fear of missing out because there's a lot of them around? Do they have any physical incapacities or limitations? Is it a problem for the child, or is it a problem for the family? And, you know, in some respects, the child is functioning just fine, sometimes, but actually their rhythm does not match their family's, and that can be a real issue for people. So, we just need to work through things.
For kids with Fragile X who are hypersensitive to stuff, getting a sleep study can be a nightmare. And we need to be really careful and mindful about how we measure sleep for kids with Fragile X. You know, the gold standard we have is a full polysomnography sleep study, which is what this little kid here in his teddy bear thing is undergoing. For really complex ones, we might put an EEG on like this. Now, there's a lot of Fragile X kids that are not going to tolerate that within an ounce of their lives, and it's the hypersensitivity to that that is going to be really challenging. Jaz may talk a little bit later about some of the newer things coming along that may help us understand these things with a little bit more remote monitoring, such as mats and things like that. But essentially, we want to look at whether the child's getting obstructive sleep apnea, which is what this bottom thing is showing. If we're not interested in the breathing aspects, and things like watches or even some of the bed mats that are around can actually tell us how much sleep a child is getting. So, they're all really important things. And when we can't get anything, you know, what did we do before we had smartphones that could video kids doing funny things in the middle of the night? You know, I'm unfortunately old enough to remember before we had smartphones, but I tell you what, it has revolutionized the, the funny things that people do in their sleep, because it's quite easy to look at it and go, "No, that's just normal sleep behavior," versus, "No, that's something we need to do something about." So, if in doubt, video it and take it along to someone. We can get really good ideas of sleep patterns with these watches. And this is an example of somebody who had an awful sleep pattern. These lines here are where they were sleeping. You can see it's completely random sleep, no circadian rhythm at all. They're reasonably good at measuring within-person change, not 100% correlated with a full PSG in terms of sleep behavior, but they're not too bad and probably enough for getting a bit of an idea.
Coming back to the sleep problems, when we think about sleep problems, they're not different problems in Fragile X. We still qualify them the same. You know, we talk about disorders of initiating sleep, disorders of maintaining sleep, sleep-related breathing disorders, and disorders of hypersomnolence, if you like. Mostly what we're seeing in Fragile X is the first three, and particularly the first two. So, sleep apnea, as I said, is common. It's a predisposition, but if somebody's not snoring and we don't hear pauses, it's unlikely the child or adult has a significant problem with sleep apnea. We do need a sleep study to clearly identify. So, that may be challenging, giving the stuff that we talked about before. And the first-line treatment in children is to get any bulky adenoids and tonsils there out of the way, so that we've got a big enough airway to breathe through. And so for kids who won't tolerate a sleep study, don't be surprised if you get through sent through the ENT to get their tonsils and adenoids out first. Then, if it persists, CPAP is the next option, and that in itself is another sensory challenge. So, we need to think very carefully about how we introduce these things to kids with Fragile X.
So, so just a reminder that we look at all of those other things, the medical issues as well. So, constipation, autonomic dysfunction, reflux, seizures, all of those things need to be optimally managed. And the environment needs to be optimally managed, as well as dealing with all of those other things. So, thinking about all of these things that are a challenge for kids with Fragile X, we start to think about what can we actually do about it? Okay. So, knowing your child. What we need to understand is that the, the good old rules still work, okay? But what we need to do is modify them, understanding the child we're dealing with. So, if you're talking to someone who's hypersensitive to noise, then you're not going to put a lot of background noise on. You need to think about what calms your child and how they settle, okay? And it may be a little bit different for kids with Fragile X. Good sleep hygiene, or good sleep habits, I prefer to call it, is really making day different to night. Encourage lots of activity during the day. At night, avoiding naps, but that's a bit age-dependent, given what I showed you before. And establishing an age-appropriate bedtime routine. We'll talk a little bit more about how you can modify that. Engage in calming bedtime activities. Create a good sleep environment, and that's where your sensory stuff, we need to understand. Avoid big meals or caffeine, those sorts of things. Had a child come to sleep clinic today, was having trouble going off to sleep. He has four energy drinks between two and six. You know, it's really important we understand that. And sometimes, if you miss the question, you've got no hope. They talk about eliminating, eliminating screen time or lowering screen brightness, and I'll address that a little bit more in a minute. And then addressing any of those psychological fears and worries. So, that, that's a really key way of starting to work through good sleep habits.
When we're thinking about optimizing the environment to support circadian rhythm, and the more I read about it, this is probably where we need to be absolutely rigid with managing sleep disturbance for kids with Fragile X. So, routine is key. Making sure we eat at the same time every day, exercising in the same pattern, using light to try and drive a good circadian rhythm. So, nice and bright during the day, but in the evening, turn the lights down as much as you can. Just try and keep it sort of dull and quiet. If kids are really needing to be on screens, make sure it's not hyper-engaging, okay? And make sure the background light is turned down a bit. You can see from this graph here in the background, if you've got a bright LED bulb, it can suppress melatonin to about 80%, okay? Whereas if you've got lower lights, it's much less suppression of melatonin. So, really important to just think about that exposure. Making sure things are calm, making sure, you know, the soft things around, particularly for the hypersensitive kids, is really important, I think. So, day different to night, all of those things, routine, routine, routine. You can't get through this without establishing a good routine. I'll talk about circadian rhythm a little bit more in a minute, but it's important to set up a routine of self-settling as you move through childhood that doesn't involve a parent. Because then, when they wake during the night, they don't need to recreate that same situation to get a parent to get them back to sleep. So, when we're trying to deal with a child who's having a lot of difficulty with getting off to sleep at the beginning of the night, requiring a parent to be there, and then they wake during the night, what they do is they wake up and they can't self-settle without a parent. So, they get you to help them go back to sleep. And so, what we need to do is work on the beginning of the night. And being a practical soul, you're not going to follow through in the middle of the night, 2, 3:00 in the morning, you're not going to follow through with that. So, just focus on the beginning of the night, and the rest of the night will gradually catch up, okay? We do need to monitor and just think about those anxieties, which is a bit of a thing with Fragile X.
I try and get kids to try and turn off technology about 30 to 60 minutes before bed. And one, there is an engagement factor. When kids are really buzzy or have ADHD symptomatology, when you're watching something, you get a lot of instant feedback all the time. And so, you get really engaged in what you're doing. And so, it's really hard to put it down. So, one of the strategies I tend to use is try and get them to turn it off 30 to 60 minutes before bed. But then fill that next little while with a warm bath or shower, cleaning teeth, reading a little bit of a book, even if you're reading with them. And sometimes, if they're a really wiggly kid, putting them on your lap with your arms around them, holding the book, will help physically contain them a little bit so that they can learn that stillness to help them get off to bed. The reason behind a bath or a warm shower is one of the things that happens in our body when we get ready and start to get tired. And if you've ever been jet-lagged, now you feel really cold before you get that horrible feeling of being really exhausted. What happens when we go off to sleep is we get a central core body temperature drop. And it's the change in body temperature that can actually drive sleep a little bit. So, if you have a warm shower or bath, you vasodilate your skin. So, when you get out, what happens is that your blood vessels are all dilated, so the cool air immediately cools your blood, and then your core body temperature drops. So, there's quite a good physiological reason for having a warm bath or shower before bed. So, it's sometimes helpful. So, instead of having it before dinner, have it in that 30 minutes that gives you a break between technology and bed. Can sometimes be a helpful shift in routine.
Think about what your child needs to feel calm and safe. So, sleep socks, or, you know, lots of fluffy things, or, you know, I often ask kids, "Are you a kid who likes blankets or fluffy duvets?" And, you know, they'll tell you very quickly what they prefer. And, you know, those sorts of things, understanding those things can be really important. Some of these sleep problems depend on age. That waking and not being able to settle, needing a parental presence is really important. Things that, you know, night terrors, walking and talking, is often related to overtired and very deep sleep in the first half of the night. Bad dreams and nightmares are normal from about three to five onwards for a while. They're often late in the night. Movements, we often get asked about. They're often, you know, the odd jerk is often quite normal unless they're rhythmic or there's the same unusual movement at night. We need to just think about that a little bit more. But restlessness, that might be an earlier presentation of restless legs. Restless legs syndrome is actually an autosomal dominant condition. So, you usually find a parent who's done the same thing, but had restless legs or thought about it. It is sometimes managing iron deficiency can be a helpful way of supporting that. But as kids get older, we may need to actually think about other therapies. And we can't really make a formal diagnosis very easily until about after the age of eight.
Strategies. I'm almost out of time, aren't I? I'll keep, I'll try and go through these fairly quickly. So, set up the environment optimally. Get a sleep routine. Start by getting them into their own room, whatever it takes. Safe sleeping, of course. And then these techniques of camping out, checking out, checking in, and a red card with rewards for staying in bed. Remembering rewarding someone for sleeping is almost impossible because you can't control it, but you can control whether or not you get in and out of bed. So, camping out is where a parent is in the room. Try not to have that close to close contact because it's harder then to separate. And then you gradually try and wean yourself out. Now, lots of people get to the door and can't get out. Okay? So, once you get to the door, what you do is you start to say, "I just got to go and get a drink. I'll be back to check in a second." You check out, check in, check out, check in, and gradually extend that time. Okay? Red card is where you get these kids that are getting up and down. "I just need another drink. I need this. I need that." If you give them a card that gives them permission to get out of bed once. Once they get up, they have to give you the card. Sometimes the kids are so desperate, they want to hang on to the card, they don't get up. So, just thinking about those things.
The other aspect for those kids who are early wakers. Now, early wakers are almost impossible to treat with medication because what you end up doing is making them sleepy for the day. So, it's really important from an early age to try and teach kids when it's acceptable to get up. And sometimes you can use that for kids who can't tell the time. Use a clock that turns on. And you don't need to buy these fancy expensive things, you know, on the internet. Buy a $3 timer at Bunnings. You can click that onto a local lamp, and when the light comes on, kids can come out of their room or come out of bed. So, thinking about all of those techniques can be really helpful. You may need to modify some of the sensory stuff, and you may need to address what calms the child. For some kids, they will need some sensory stuff to try and work through stuff. Most of the kids that I work with are hypersensitive to things, so actually need it really quiet or a bit of white noise to block out other noises that are coming in. So, really trying to work through that. If kids are older and cognitively, they need to be about the age of eight or nine to be able to deal with CBT for insomnia. So, unless they're functioning at about that level, CBT is going to be a little bit tricky for them.
Regulation of sleep. Can I have another five minutes? Yep. Okay. So, when we're talking about how sleep is regulated, we have a number of different ways of doing it. One is the circadian rhythm, which is this process C, which is a daily rhythm. Now, for all of us, that is probably a little bit longer than 24 hours. But what makes us stay in the rhythm is all of those routines. So, when we eat dinner, when we wake up, all of those things. And one of the biggest drivers is when we wake up. So, it's really important to get up at the same time every day. And sorry to disappoint those people who like their weekend sleeping, but we should wake up at the same time on the weekends as well. Because if you delay it an hour on Saturday and Sunday, you'll slip your whole circadian rhythm by about 45 minutes by the time you get to Sunday night. So, really keeping a really good routine. Without that, we tend to continue to sleep later, and we'll go to bed later. So, this is about entrainment: light, eating, routine, work, school, those sorts of things. The process S is really just how long we've been up for. The longer you're up, the tighter you are. Okay? Now, one of the things with this one is that adolescents are a bit less sensitive to this. So, they can stay up later and it seemingly doesn't affect them. So, for them, it's even more important to keep them in a routine. The other rhythm we have is this ultradian process, which is the cycle we go through every hour and a half. That fits those cycles I showed you of sleep before. And when we look at it, it's this performance thing. So, you have this arousal, and you perform really well, and then you have a bit of a slump. And this is one of the reasons having a coffee in the middle of the morning, as opposed to breakfast when you're already in top performance, having a coffee in mid-morning is probably more likely to give you benefit than anything else. What this means is that if you're trying to sleep when you're at your highest point, you're probably less likely to go off to sleep. And this is what we mean by a second wind. So, you might feel really tired. So, this is sort of 6:00 p.m., 6:15, and you think, "Oh God, I could go to bed." So, early. Then you get a second wind, and then you have a slump. So, these are about 90-minute cycles, and you have a window where it's really helpful to go into sleep. So, if you're having trouble sometimes with a kid trying to get off to sleep, just think about whether they might be in the wrong bit of this cycle. And whether we try something called bedtime fading, which is where if it takes somebody longer than 30 minutes to go to sleep, what you would do the next night is delay their bedtime for 15 to 30 minutes. And then see if it's less than 15 minutes, bring it back by 15 minutes. So, you juggle a bedtime until you can seemingly get it roughly into this space, okay? So, it can be really helpful, sort of around trying to find an optimal bedtime for a child. So, if you're having trouble getting them off to sleep, that can be a good way of meeting that, okay?
So, we've talked through all of these. Remember the busy mind. Try to teach kids to calm. Yoga, mindfulness, all sorts of things can be helpful. Okay. I've always loved this cartoon. "Three out of four voices in my head don't want to sleep. The other wants to know if penguins have knees." And I've just got to find it before I go to sleep. So, really, really key thing. I'm just going to skip through those. That was just a behavioral trial we ran that really showed that purely managing the behavior was very significant in managing children with ADHD on stimulants. Likewise with autism, there are, there is a trial that's just been published showing significant improvements with that. It's important to think about that circular nature of sleep and the impact on autism and autism on the impact of sleep. Okay. In terms of autism and Fragile X, I think some of these sensory things are really key. So, thinking about the sensory smart sleep tips for kids can be really important. So, rolling around on the exercise ball, rocking, rowing your boat, sorts of activities. Visual stimulations, having an aquarium, a lava lamp, those sorts of things with slow movement can sometimes be helpful. Warmth, rice pillows, warm blankets, those sorts of things. Heavy blankets, squishies, massage things, white noise. Thinking about all of those sorts of things can be really important. Try not to make it that a parent needs to instigate it, that the child can do it themselves.
Treatments. I'm going to, I've talked a little bit about that. 60% of families report that behavioral strategies work a little or not very much. But I still think it's important because actually, there haven't been many trials to be honest. So, we do need to target behavioral trials, you know, things for people. We do know that a lot of these behavioral interventions work in 70 to 80%. So, really worth thinking about that before you go down a medication route. Some of those things we've talked about, there is evidence that is limited for a number of those things in intellectual disability and autism populations. Melatonin, we do have some evidence for effect in children with Fragile X. Not a huge amount. It's not going to change your lives, but it may make life a little bit easier at the beginning. We are a little bit wary about melatonin bought on the internet at the moment. There's been a couple of studies suggesting that internet dosage on the packets is not always completely reliable. So, just be wary of that. Restless legs, I'll leave that there just for people to look at. But iron supplementation, lifestyle things, avoiding triggers are probably the first things. And those warm baths can be really helpful.
Other medications we might use in Australia. And we don't usually use these medications in young children. Okay? Melatonin, probably the youngest we would go would be 12 months. Clonidine, maybe three. And the rest are probably over the age of five. We need to be really careful about these medications in really young children because we don't know the outcomes. Remembering that benzodiazepines, such as clonazepam, will use for, clonazepam will use for severe night terrors. And just be really mindful of some of the side effects that we can get from these things. And that is me done. A little bit over time, sorry.
Oh, well done, Honey. You've covered such a lot there. I mean, it's good for us to be reminded how common sleep problems are in Fragile X. I think that's going to make some of us not feel so alone. Understanding some of the reasons, that's really helpful to sort of get more of an understanding of the science behind that. And then, of course, the strategies that you've presented, ideas for us to consider, bedtime routines, calming activities, being reminded about the importance of self-settling. So, yeah, a lot of really great stuff there, Honey. Thank you so much. I'd like to introduce Jaz, Dr. Jaz Neque Troller, also known as as.
Dr. Jaz is a pediatrician, pediatric respiratory and sleep medicine physician at the Queensland Children's Hospital in Brisbane, and Senior Lecturer with the medical school, University of Queensland. Jaz has practiced alongside Dr. Honey Hoyler in the area of sleep medicine and is also actively involved in clinical research. Jazz's research interests include sleeping children with disability and the relationship between sleep and long-term cognitive and behavioral outcomes in children. It's a pleasure to have Jazz join us to talk about the study on early sleep interventions for children with neuro disability.
"Well, thank you very much for that introduction, and thank you again for enabling me the opportunity to come and speak to the Fragile X community. I'm very excited to be here and grateful to Wendy, in particular, for giving me this opportunity. So, I'd like to just share some work that we're doing, which has really come off the back of the work I've done for my PhD with with Honey, which was largely in children with Down syndrome. And we recognized that a lot of the work that we were doing in children with Down syndrome actually was relevant to children with other neurodevelopmental conditions. And I was lucky enough to be successful in the grant to undertake a three-year multi-center study to enable early effective sleep interventions to improve functional outcomes and quality of life in children with neuro disability. And this is a study that I'm running alongside Professor Karen Waters in Westmead and Dr. Moya Vandela at Royal Children's Hospital in Melbourne. So, it's a three-site study. And the main objective of this is to try to improve quality of life and functional outcomes in children with a range of neurodevelopmental conditions by trying to modify sleep. And what we hope to in time be able to achieve is some national guidance for the diagnosis and management of sleep problems in children with neurodevelopmental disorders, which, believe it or not, there aren't, there aren't any. So, we are hoping we can fill this space with some of the work that we're doing.
So, just briefly to tell you about what we're planning to do and what we've started to do. We have sort of three phases to this research. The first phase is really to try and improve our understanding of sleep problems in children with neurodevelopmental disorders, and that's what I'm going to really focus on and tell you about today. The second phase, which is already underway, is looking at the development of novel tools to try and improve the diagnosis of sleep problems in children with neurodevelopmental disorders. And Honey touched on this, that we're working at the moment with a non-invasive sleep mat, which we hope in time will be something that we'll be able to use in children, particularly those with hypersensitivity, to try and do sleep monitoring for diagnosis of breathing difficulties in the home environment, rather than having to bring them in and put on all that gear that Honey showed you on the slide. So, this is a really important piece of work that we're trying to do currently. And then the third phase is really picking up from where Honey left off in her talk, which is looking at the way in which we can provide effective interventions for non-respiratory sleep problems in children with neurodevelopmental disorders, and and and looking at doing a randomized control trial of some of the interventions that are out there, using some novel technology, and and trying to ensure that people understand that it's not a one-size-fits-all, and that that personalized approach is really, really important for children with with different neurodevelopmental conditions, but also for the individual child as well.
So, this is the the sort of overview of our our our work. I'm sure this is not new to many of you here, but just that the conditions that we are including are are vast. There is a number of different conditions that fall under the banner of a neurodevelopmental disorder. And of course, of interest to the community here will be this group, the genetic syndromes that includes, um, Fragile X. And we're obviously very keen to have information on children with Fragile X included in our study. And one of the reasons we decided to go broad is to be really inclusive of all children. We really didn't want to try and, um, miss anyone. And we felt it was really important to try and undertake some large-scale research that actually was accessible to all children with neurodevelopmental disorders as much as possible, because many of the studies, as you all know, and as Honey will clearly know and have have have shown you, um, often exclude children with with neurodevelopmental conditions. So, we really wanted to try and include everyone. Having said that, we are also keen that we get sufficient data from different groups so that we can try and do some sub-analysis of results from individual conditions as well, and individual types of sleep problems. So, there's there's multiple different ways in which we hope to analyze our data at the end.
So, the first phase is really what I'm here to talk about, and and this is really something that we're trying to do, which is to really understand from all of you about how sleep is currently being treated, managed by yourselves, by other clinicians, um, in children with neurodevelopmental disorders. So, we really want to try and get an understanding of how prevalent these conditions are in children with neurodevelopmental disorders, particularly some Australian data and New Zealand data would be great. We are talking to some collaborators in New Zealand at the moment as well, um, to try and see if there's ways in which we can we can broaden this out. And we are recruiting both from the community through various organizations like like Fragile X Australia and like many of the other groups that support children with different neurodevelopmental disorders. And we're also recruiting from clinics within the hospital, both the Sleep Clinic to try and get a referred sample of patients who are receiving treatment through our clinic, as well as patients that are going to other clinics as well. And that's at all three sites that I've mentioned. Within this survey that we're doing, we have asked specifically to understand what the priorities are for families. So, we really want to understand what do families want us to think about, and what are the priorities for families when we think about sleep. And of course, we want to understand more about management, and that's both management that families are using themselves, and those that they have been advised to use or recommended to use by by people, by other health professionals.
So, the the the study consists of a big cross-sectional survey. The data is de-identified unless you choose to provide your contact details. We're distributing it to participants via a number of different routes, as I've mentioned: community representative organizations, clinics within the hospital. And it's open to carers of children with a clinician-diagnosed neurodevelopmental disorder, and hoping to include children up to the age of 18 years. We actually have had some older children, um, some older individuals who have taken part, and we we're not excluding them. We're still we're still letting them answer the questionnaires, but we have we have kept it 18 years. The the survey itself has four sections within it. So, there's one which asks is asks you a little bit about your child and your child's condition, and a bit about your family structure, so that we can understand the the what goes on for your for your child within the structure of the family. The second section is the bit I mentioned about what's the priority for you as an individual, and we ask you to rank different aspects of sleep as to what you think are important for us to focus on. And then there are two validated sleep questionnaires that are included: one that focuses mainly on breathing issues, and one that focuses more on other aspects of sleep, like those which Honey's mentioned today. We are aiming to get quite a big sample, so we do want to get a minimum of 500 participants, and we have been sort of slowly had a sort of, if you like, a soft start to this study, and we've gathered about just under a hundred responses so far. But we're really keen to keep building that, and over the next sort of three to four months, we really are going to go quite hard with publicizing this as much as possible. Um, you do have the option to opt in and provide details for further research if you're wishing to undertake any of the follow-on phases that we're doing for this work. In that situation, you are asked to provide your contact details. You can also opt in for any significant results to be sent to either yourself, in which case you provide your details, or to a doctor. With the doctor side of things, it would be through the clinic that you will have been referred through, which from where you access this the survey. And we we ask for that information during the survey.
Overall, we've had quite a few different families test this for us, and they timed it and tell us it takes about 15 to 20 minutes to answer. You do have the option to save it and go back to it, so it doesn't have to be done all in one go. And, you know, we have had a few people who've just done the first couple, and then we've sent a little reminder, and then they've they've followed through with the rest. So, it is possible to take your time. We've got a QR code here, and, um, Wendy's already, um, ahead of the game and has put everything together to put this through on the website for people to access for us. So, I'm very grateful for anyone who feels they have the opportunity to participate in this for us. We would be really grateful and really keen for any responses possible. And that's all I really wanted to share today, and hopefully, in the future, I can come back and talk to you again more about some of the work and some of the results that we get from this."
"Oh, thanks so much, Jaz. That looks like fascinating research, and of course, it's, you know, I really encourage people to take part in it because research is so important to informing, you know, best practice and us understanding more. So, we we're lucky in Fragile X that we have so much quality research. So, well, I I I feel that we should round it up unless there's anyone else that's got any questions within the group that hasn't sent them through or or messaged us directly. It's been such an informative evening, it really has. I've learned so much and really appreciate your time, Honey and Jaz, as well."