Genetic Epilepsy Team Australia’s 2025 Genetic Epilepsy Conference

I’d like to thank GETA for giving myself and Genevieve the opportunity. To come here today to talk about a different kind of treatment for des one that brings together mice and deer into a mental health intervention. And as we’ve already heard from Ingrid this morning, it’s really the brainchild of Ingrid who heard about the MICE study at an international meeting and recognized its potential in addressing a significant service gap in the DE population, that being the treatment of mental health disorders and behavioral disorders.

And so today firstly I’m gonna talk about the uk my study, and then Jen’s gonna put it into the DE context. And then finally I’ll finish by speaking about our adapted, my study that we are running here out of the Austin. So as Ingrid mentioned this morning, over 90% of individuals with DES have intellectual disabilities and a range of mental health disorders incur occur in more than 70% of individuals, including behavioral problems, mood disorders, autism spectrum disorder, and psychosis.

And as children with DES grow, these mental health comorbidities often eclipse seizures as the problem of greatest concerns. Unfortunately, as individuals with DS have complex diseases, mental health disorders frequently go undetected and undertreated as often the symptoms are attributed to their intellectual impairment or cognitive disability or maybe related to their seizures or the side effects of the anti-seizure medication.

And then further barriers to managing mental health disorders in this population include a lack of clinician experience in addressing the complexity of this population, and also a lack of standardized assessment procedures and evidence-based treatment options. So the mental health intervention for children with epilepsy mice study was the first randomized control trial of a psychological therapy in children and young people with epilepsy.

It aimed at expanding access to mental health care for young people with epilepsy by incorporating a telehealth based therapy into epilepsy clinics across England and Northern Ireland. And in this randomized control trial, the intervention group received a treatment called mice, which is a modular psychological intervention designed to treat a range of common mental health conditions using evidence-based treatment approaches like cognitive behavioral therapy and parenting behavioral parenting strategies.

And then in this study, the intervention mice was compared to a control group that did not receive this intervention and instead got their standard care. 334 children with epilepsy took part in the study. And after six months, the group who received the mice treatment showed a significant reduction in their mental health symptoms compared to a control group of children who did not receive the intervention.

And this reduction in mental health symptoms was retained at 12 months where there was an even greater difference between the treatment and control groups. So the findings of the MICE study at six and 12 months post randomization showed that children who received the mice intervention had improved mental health compared to those who just got their standard care.

Additional analysis showed that the mice intervention was effective across a range of subgroups, including those with intellectual disability and autism spectrum disorder. However, in that study for children with intellectual disability, the intervention was almost entirely delivered to the parents instead of the child.

And a case reviewed showed that some of the strategies were not effective for children with intellectual disability and others required significant modification. So it was evident that adaptations to the original my study were required for children with intellectual disabilities and complex mental health problems.

So with this in mind, as Ingrid introduced, we went to London last year to spend a week at the Greater Almond Street Hospital with the uk. My team work shopping adaptations we might make to the UK protocol to ensure that it’s appropriate for children and adults and families of those with de. So myself and Genevieve brought the neuropsychological and behavioral perspective.

We were joined by Briley Forster to bring her experience in working with these families and also Ingrid with her de expertise. And we were working with the team in the UK to identify ways in which we could amend the existing intervention. So that leads to one of the key objectives of our trial, which is to adapt the UK intervention so that can be delivered solely to the parents of children with a, and with children and adults with de as we know that these children and adults will be unlikely to engage with psychological therapy over telehealth.

And the rationale for this is underpinned by the family being the center and the experts of the person with de. So Genevieve is now gonna go through some of the theoretical background for how we adapted the MICE protocol treatment. Thanks Eliza. And just to start as Ingrid said before, I work in adults and the need for mice D was really brought home to me recently when I was seeing a person with Lennox Gastro who was having some sort of lashing out behaviors and trying to find a psychologist who is happy to work with adults with intellectual disability and complex medical conditions.

Is really hard. So I’m probably preaching to the choir there, but it really sold how much we feel like this is needed. So I wanna talk to, as Eliza said, the scientific and philosophy philosophy philosophical evidence base of the trial. We know that challenging behaviors and mental health difficulties often the tip of the iceberg and really what looks like might be lashing out or challenging or obstructive kind of behavior is often conveying a meaning or a function in people that can’t readily communicate.

This is how they’re communicating what their needs are. And so we know that, for instance, punishments and other sort of traditional kind of ways that you might learn to discipline and train people in behavior don’t really work. And so I’ll just talk briefly about why and in particular the lens we’re taking is that in the mice, original mice trial, although they did have people with DEE the modifications they made to adapt for the des we’re on the fly.

Whereas we want to take a systematic approach from the outset to make sure that our approach is appropriate. So traditional psychological therapies and I’ll use a made up example based on myself to illustrate the point, but if I was, for instance, a day smoker and I also wanted to get really fit, and if you knew how lazy I was, both of those things are equally unlikely.

Then I might use to change my behavior, a cost benefit analysis in that I want to get fit. And smoking a pack a day does not fit into that goal of getting fit. Therefore, I might reason through with myself that this smoking behavior is not congruent with the bigger goal that I want. But we know that this aspect of cognitive behavioral therapy is a challenge for a lot of people with Dees who might struggle with making those sort of cognitive connections between the behavior and their goals.

And and in terms of planning and things like that. Another aspect that we know doesn’t really work when people have cognitive delay or intellectual disability is punishment. Punishment generally doesn’t work anyway. If I were to try and quit smoking by depriving myself of chocolate, every time I.

I did take, I did smoke, then I would probably just feel bad about myself on a number of levels rather than it reducing the behavior. So with that in mind, we looked to scientific evidence around what does work in people with intellectual disability and in changing behavior? And the two aspects that have a good solid scientific basis are around creating a positive environment that meets the needs of the child, and then figuring out why the person, the young person or the child is behaving in that way so that we can give them an alternative way to behave.

Very briefly, setting the scene a lot of work has been done in things like down syndrome and intellectual disability that was picked up by the World Health Organization that really creating a home environment with the family that meets the needs of the patient, but also the parents and the family is crucial to mental health, wellbeing of the patient, but also the caregivers.

And so to do that, we really need to understand what the person with the DEE needs as a baseline of how we can best meet those needs. For instance, this comes from the World Health and org organization model for how we think about disability. Now, rather than focusing on what the person can’t do, let’s think about what they can do, what their strengths are and what their needs might be.

So in this instance we are thinking about is what are the barriers to the person behaving well in terms of are they comfortable, really basic stuff in toileting, are they are they able to sit comfortably in their wheelchair? Do they have fun? Are they, do they connect well with family?

They’re off often, can be quite social bright kids and young people. And are they getting sufficiently socialized and given sufficient social kind of activities? And so this might feel like throughout this talk, I really wanna make it clear. It might feel like, I’m sure a lot of you do have this mindset, are constantly thinking like this.

And really the deep, my model is for us, bring a fresh set of eyes to the situation. The other aspect is teaching different and more positive alternatives to behavior. So the challenging behaviors in de are we suspect often due to the person trying to communicate that they’re hungry, that they’re tired, that they’ve just had a seizure, that they’re generally fed up or perhaps they want something, they want more attention or they want to feel good in some way.

And so there’s a really good psychological framework for this that we’ve been using for many years called a BC analysis where really we’re taking a lot of time with our families in the MA trial to understand what is the behavior what do you want to change, what does a, what does it look like when this behavior is gone?

And then to try and understand patterns leading up to the behavior. So is there something that triggers these behaviors? Sometimes there isn’t. And then at the outset, what happens when they do the behavior? Do they get attention from mom or dad? Do they get a treat to, make them to get them to be to quiet in public if they’re acting out?

Or is it a way for them to escape from things that they don’t want to do, like refusing to go into to a day program, or those sorts of behaviors. So all these behaviors that are really challenging in the moment we would argue, have a function that we need to try and understand. And so then what we do in Mice De is work with our families to develop an alternative to that behavior that is more acceptable to you and your lifestyle as well.

And really drawing on the strengths of your individual child or young person. Not a one size fits all kind of approach. So again to reiterate, like I you’ve probably all thought around these sort of concepts in, in trying to manage challenging behaviors, but really what Eliza’s gonna talk about is that my DE is us using our psychological expertise to coach the family with a fresh set of eyes and over weekly support intervention.

So support for the family and carer and a fresh set of eyes. Eliza gonna talk to finish off in a bit more detail about what that looks like.

Okay. So the Meister study is a nationwide multi-center randomized control trial that uses this adapted UK intervention to identify and treat mental health disorders in a more severe population of children and adults with Dees. And as we’ve alluded to, one of the key differences is that in our study, the intervention is delivered solely to the parents and long-term caregivers rather than to the patient themselves.

And so the focus is on upskilling parents and caregivers with education and strategies to be able to better manage their child’s complex mental health and behavioral problems. And so similar to the UK study, we’ll be comparing this against standard care for mental health disorders in this population.

So we’re conducting a pilot study of 80 patients. And the main aim is to determine the feasibility of the trial. So in other words, can we actually enroll, retain, and deliver the intervention to parents across six months, as well as looking at the time and the number of sessions needed per family for the treatment and management.

And then the secondary outcome of the trial, we’ll estimate the efficacy of the intervention in reducing symptoms of mental health and behavioral problems. So involvement in the trial will involve an initial assessment followed by weekly telehealth sessions with a therapist. And the number of sessions required will depend on your individual goals and what you are working on.

But the minimum number of sessions is 10 and the maximum is 22. And these occur over the course of six months. And as Jen spoke to, many of the strategies will be familiar to you, but I think one of the things is that you’re able to discuss with your therapist what is and isn’t working and problem solve collaboratively about ways in which the intervention and the strategies can better be suited to your child and to your family.

So therapists in the trial will be under the supervision of clinical neuropsychologists, myself and Genevieve, and we are gonna be providing additional guidance and strategies with the therapists. And so it’s about getting this intervention and this treatment, but also about having the therapist as your coach supporting you and giving, getting feedback from your therapist across the trial.

So to participate, children are above age four with a diagnosis of a de and they’ll meet the eligibility criteria on our assessment measures. So that’s just demonstrating significant impairing mental health and behavioral problems that are amenable to intervention as well. So parents will complete all of the baseline measures before being randomized into one of two groups.

So that’s the Mice Intervention Group. And then standard Care, the primary endpoint of the trial is six months post randomization with an additional follow up at 12 months. And so we’ve been lucky to have Dr. Sophie Bennett, who was the lead author of the UK MICE study. She’s be, she was visiting us for two months.

She only left, what is it, a couple weeks ago. And during which time we completed all the adaptations to the protocol, we’ve had our ethics approved and we’re now running a pre-pilot of the intervention with 10 families just to make sure any additional modifications addressed before we are launching the main trial in a few months time.

So I’d like to thank all the incredible people I work alongside in this study part, particularly Professor Ingrid Scheffer and Briley Forster, and also acknowledge all the families that have been taking, interested in, taking part in this study. If you are interested in learning more about the study or connecting with the team, you can email myself or we have a myy email address as well.

And so we can register your interest so that when we are ready to launch the main randomized trial in a few months time, we can get in contact with you to complete those baseline and screening measures to determine the eligibility to participate in the trial. So thank you very much.