When Seizures Aren’t the Only Problem in Childhood Epilepsies - Prof. Kette Valente
In some childhood epilepsies, seizures are only part of the clinical picture. This episode with Prof. Kette Valente explores non-seizure symptoms that can shape development, behaviour, and quality of life, and explains why identifying and addressing them early is essential for better outcomes.
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Episode Highlights
Why seizure control alone fails to capture outcomes in developmental and epileptic encephalopathies
How non-seizure symptoms affect long-term disability and independence
What early recognition of developmental and behavioural symptoms can change
Which assessment tools best reflect real-world functioning in rare epilepsies
About Prof. Kette Valente
Kette Valente is a paediatric neurologist and epileptologist, full Professor of Paediatric Neurology at the University of São Paulo’s Faculty of Medicine and Technical-Scientific Director of the Neurophysiology Laboratory at Hospital das Clínicas, USP. Her research focuses on cognition, behavioural comorbidities, and functional outcomes in rare and developmental epileptic encephalopathies. She has extensive publications and international collaboration in complex epilepsy assessment and neurodevelopment.
Full profile: kette-valente
Topics mentioned
developmental outcomes
adaptive functioning
social communication
gait disorders
hypermobility
sleep disturbance
behavioural assessment
dravet, angelman, syngap1
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Trailer & intro
00:00 Torie Robinson
“What happens if a clinician doesn't look at the whole picture and only looks at seizures?”
00:05 Kette Valente
“When we miss an impairment, we'll have a disability later. You cannot unlock anymore that impairment, and it's consolidated over time.”
Introduction
00:19 Torie Robinson
I’m Torie Robinson, and I’m joined by Professor Kette Valente, Paediatric Neurologist and Epileptologist in São Paulo, with a focus on developmental and epileptic encephalopathies (or DEEs), where we discuss assessing non-seizure outcomes.
This episode is presented in partnership with EASEE®, by Precisis GmbH.
How to measure DEE epilepsy outcomes - outside of seizure control
00:36 Torie Robinson
We still need to anchor epilepsy outcomes around seizure frequency or severity even. But in developmental and epileptic encephalopathies or DEEs, where non-seizure symptoms, especially like cognitive, developmental or psychiatric can be quite prominent. How can they most consistently drive long-term disability?
00:57 Kette Valente
Seizure frequency and severity cannot be used as the only endpoint, as you know, and as their regulatory agents have already made clear. Because, as you said, they are not the only factor driving disability. If they were, it wouldn't be a DEE by definition.
01:26 Torie Robinson
Mm-hmm.
01:27 Kette Valente
What else is important? What else matters? I think that it's very hard to establish just one thing. But in the long run, some domains, let's say like this, set the ceiling for later independence. In this sense, we would have communication and daily skills, meaning adaptive functioning, autism-related social communication, behaviour (especially in older children), motor gait dysfunction. Also, we should not forget sleep. Then if we have to put everything in one package “neurodevelopmental disorders”, they will impact, yes, the long-term disability.
Non-seizure symptoms affecting long-term outcomes
02:32 Torie Robinson
What happens if a clinician doesn't look at the whole picture and only looks at seizures?
02:38 Kette Valente
I think that there is a childhood onset study, 10 years older, and what showed is that when we miss an impairment, we'll have a disability later. You cannot unlock anymore that impairment, and it's consolidated over time. Torie, we have - and this is a failure - we don't have controlled studies comparing those children that have earlier diagnosis and those that do not. This is a paper, very simple paper, published last year; non-seizure symptoms, diagnosis, what happens after the diagnosis. And the thing is, only 30% they have some sort of support. So, there is no diagnosis. We are discussing so much assessment. We are discussing so much tools in this clinical trial readiness or madness moment. I'm not so sure about the right word, but still, We are diagnosing and after that.
Early versus late recognition of non-seizure symptoms
03:58 Torie Robinson
What are the impacts when there isn't an earlier diagnosis?
04:01 Kette Valente
I think that we can learn from other disorders. As I said, we don't have so many studies in these [DEE’s]. From other disorders, what we have, if you have an early diagnosis (I'm not speaking about seizures, I'm speaking about non-seizure symptoms), and if there is an intervention, you can improve the outcome, like crouch gate. Although we don't have any study about crouch gait in Dravet Syndrome, crouch gait is not exclusive of Dravet Syndrome. And we have a lot of studies about the improvement of gait if you have an intervention on crouch gait. So, but we don't have in Dravet….
04:48 Torie Robinson
Yet!
04:50 Kette Valente
Yet, yeah, haha! The same for SYNGAP1. In our group, we could detect (it's about to be submitted, so…), hypermobility. They have hypermobility. And it's not something that's exclusive of SYNGAP1; 30% of children with autism have hypermobility, but in SYNGAP1 we saw a lot. And there are certain types of intervention for hypermobility that can improve the outcome, meaning that they can walk later. It's a special type of physical therapy for this. It's not only hypotonia.
05:43 Torie Robinson
Mm-hmm.
05:43 Kette Valente
And all children with DEE, we say hypotonia and gait disorders, but hey, what type of gait disorders?! There are different types of gait disorders. So, it's just an example of what we can do. We cannot improve intelligence, we know.
Cognitive function, IQ, and what can change over time
05:59 Kette Valente
We cannot improve intelligence, we know. Intelligence is a roof…
06:03 Torie Robinson
Although having said that, there are certain things that can in some cases, certain treatments or actions that can potentially improve cognitive function, for instance, if we reduce seizure frequency.
06:16 Kette Valente
Not only seizure frequency, but yes. Absolutely. Yeah.
06:19 Torie Robinson
So your IQ could be here, but you're maybe functioning at this level. But if you can improve symptoms or reduce them, then your functioning could improve.
06:92 Kette Valente
And this is what we show with ADHD, for example, right. I have one [patient], now in adolescence, with ADHD that he uses a Brazilian expression. “I was always swimming and dying under sea because it was such a big effort to achieve”, what? And when he was treated was not anymore, so he was.. he could achieve his full potential - this is what you mean. If you train children even with intellectual disability in this sense - I would say mild - then we can have an improvement in their skills. This is something that we see on daily basis. Even for children with DEEs, with mild intellectual disability - and we have them because it's a spectrum - and different DEEs, they have the potential to achieve more. Even now, when we follow the SYNGAP, now it's one year - I'm just exemplifying with SYNGAP, I'm sorry, but there are others like Dravet or Angelman - and the milder cases, they improve their expression because when we break down Vineland in subdomains (Vineland communication is writing, expression, receptive language), if you break down like this, then you see that expression improves because the reception, the receptive language also improves, [although] writing does not. So, you have to have a clear vision about what can improve and what cannot. But having said that, you are absolutely right; if you cannot increase IQ (and I don't think we should use IQ as a measure in these children because we cannot measure IQ, actually….
08:40 Torie Robinson
Right.
08:41 Kette Valente
…we have to assess their functioning in different ways.
Sponsor
08:47 Torie Robinson
Before we move on - with thanks to EASEE®, by Precisis GmbH.
Assessing rare epilepsies and selecting appropriate frameworks
08:51 Torie Robinson
So, when it comes to assessing people with these rare epilepsies, and I almost said children, but this is adults as well, what tools do you use?
09:00 Kette Valente
Well, first of all, let's break down the rare epilepsy in two types. If you have profound intellectual disability, this is one thing. Then we are not speaking about transition. Let's say that we are discussing here, the DEE’s with mild to moderate intellectual disability and then in this group I can have Dravet, I can have SYNGAP1, I can have some children with Lennox, and so on, so forth. In this group of children, we are using frameworks, ok, that were developed for children with intellectual disability and autism spectrum disorder.
Limits of standard tools in complex neurodevelopment
09:55 Kette Valente
And the tools that we have used are Vineland, that's based on caregiver observation, Bayley that's based on our observation but has to be someone trained and certified.
The first thing I can say is that using just one is not enough. Using just one tool is not enough. The best scenario is to use one for caregivers and one that you can observe the child. Also, we have to remember that these children have multiple deficits, not only one, so, you may have one tool that is perfect, gold standard, like for example, ADOS for autism spectrum disorder is perfect. However, when you have a child with intellectual disability, or a hearing or visual deficit, it’s not perfect anymore because it's based on understanding, ok. So, we have to evaluate a lot of things. If I am asking for a child to write something and this child cannot move his hand or her hand makes no sense… or point objects, but there is a cortical visual impairment, it's over.
11:33 Torie Robinson
Yeah.
11:33 Kette Valente
Game over. So, we have to adapt.
Measuring behaviour, sleep, and adaptive functioning
11:36 Kette Valente
The most frequently used, I would say that it's Vineland and Bayley for functioning. ABAS is an equivalent of Vineland for functioning.
11:50 Torie Robinson
Mm-hmm.
11:50 Kette Valente
Two: we have one for sleep developed by Olivier Bruny - it's good, it's great. And for behaviour, we have to be careful. Because when this whole thing about “Let's assess children with DEEs” started, there is a famous tool that is used called CBCL: Child Behavior Checklist. It is really great but was not designed for children or adolescents with intellectual disability at all. Why? Because it does imply unwillingness. “I understand the consequence.”. So, aggressiveness in CBCL is about conduct disorder, not disruptive challenging behaviour. For this purpose, we will have ABC and DBC. And something I think you'll like, Colin Reilly from UK is leading a paper (not from UK [now], now he is in Sweden, and he was my co-chair for a long time, we worked together and I love working with him), he's leading a paper, I'm one of the authors, that we are suggesting some measurements, some domains to be measured, and some measurements that were developed for children with intellectual disability and may help when you choose one instrument.
Final thoughts
13:37 Torie Robinson
Thank you so much to Kette, for unpacking why epilepsy outcomes can’t be understood through seizures alone, and for explaining how missed impairments can shape long-term disability.
With thanks again to EASEE®, by Precisis, for partnering with Epilepsy Sparks.
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