Editor’s Note: Chatting with Haley and Poppy is a platform to advocate for children who are non verbal. In ensuing posts we will review published articles in neuroimaging journals that may have the potential  to reveal the preserved cognitive abilities of these children. 

A prominent feature of developmental and epileptic encephalopathy (eg:CDKL5/CDD)  is speech and language disorders (Baumer et al). Parents who have children with DEE universally long for communication with their children. Hence it  is no surprise that pharmaceutical companies in the DEE space (see below), pursuing therapies to treat the myriad of symptoms of DEE syndromes, have the expectation that forthcoming therapies may produce results that enhance communication. Of course that may be easier said than done. The existing tool box for testing cognitive function, requires response that children with neuro developmental disabilities (NDD) are often incapable of executing.The inability to perform, results in low psychological test scores, which then become the criteria for exclusion from traditional functioning studies. (Russell, Mundy et al.) .Generally speaking the toolbox for assessing cognitive function in children is weak if the NIH ToolBox is a guide (Taylor Frenzel et al).

However recent developments in neuroimaging are redefining what it means to respond. The New Yorker (12/6/2021) published an article titled The Science of Mind Reading. The subject was an adult with “locked in syndrome” presumed to have retained his full cognitive faculties. He was instructed to imagine distinctive images, one for yes and another for no. Using fMRI technology they were able to identify the sites in the brain registering the imagery. Of course a dialogue ensued.

The subject of the New Yorker article study was presumed to have a receptive vocabulary  It is rare that studies presuming receptive vocabulary take place with people diagnosed with a DEE syndrome. However, one exception is the work of Emily Coderre. Her subjects were adults who were non or minimally verbal. 

“We demonstrated that EMs, PD, and  ERPs can provide implicit estimates of receptive vocabulary knowledge in individuals with Level 3 autism (non verbal), although the participants differed in their individual sensitivity to specific measures, and some measures proved more able than others in discriminating ‘known’ and ‘unknown’ vocabulary between participants. This variability highlights the importance of tailoring these assessments to each individual. Despite the inevitable heterogeneity of our limited number of participants, this work is one of the few studies to use sophisticated neuropsychological methodologies, such as EEG and eye tracking, to examine language processing in individuals with Level 3 autism, thereby offering a rare insight into this population.”

Pioneers in DEE Landscape: Epygenix, Amicus Therapeutics, Longboard Pharmaceuticals, Xenon Pharmaceuticals, Stoke Therapeutics,Takeda, Biocodex  Marinus, Neurocrine, Ultragenyx, PTC Therapeutics, Ovid, Praxis, Jazz  Pharmaceuticals, Zogenix, SK Life Science, Eisel, Novartis, GSK, Meda Roche, Questor, Biogen.

Contact: efennell43@gmail.com

Editors Note: When you have child with seizures and developmental delay, regardless of diagnosis, you are part of a family. Your diagnosis may be one of a any number, my granddaughter is CDD, or cdkl5 if you will. Our family group is developmental and epileptic encephalopathies (DEE). Unfortunately, since most of us spend a large part of our lives just keeping it together. We don’t get to conferences or take courses that tell us what really is going on. So we ARE COMMENCING A SERIES, that hopefully will help. 

Developmental and Epileptic Encephalopathy (DEE) refers to a group of severe epilepsies that are characterized both by seizures, which are often drug-resistant, as well as encephalopathy, which is a term used to describe significant developmental delay or even loss of developmental skills. In Developmental and Epileptic Encephalopathy, cognitive functions are influenced severely by seizures and interictal epileptiform activity, also by the neurobiological process behind Epilepsy. DEEs are also related to gene variants and the onset is usually during early childhood. The effect of seizures on cognitive function is partially dependent on the period of brain maturation in which the seizures occur, which in turn, is dependent on other factors, such as underlying pathology, genetic susceptibility factors, and seizure triggers (e.g., febrile illness). While cognitive impairments are often a consequence of the underlying pathology, independent of seizures, it is also important to recognize that seizures themselves also play a role in developing cognitive impairments.

The syndromes of neonatal-onset epileptic encephalopathy, infantile epileptic encephalopathy, and early childhood include early myoclonic encephalopathy, Ohtahara syndrome, West syndrome, Dravet syndrome (severe myoclonic epilepsy in infancy), Lennox–Gastaut syndrome (LGS), Landau–Kleffner syndrome (LKS), Epilepsy with continuous spike-and-waves during slow-wave sleep (ECSWS), Doose Syndrome (myoclonic atonic epilepsy), CDKL5 deficiency disorder (CDD), Tuberous sclerosis complex (TSC), SCN8A-Developmental and Epileptic Encephalopathy, and KCNQ2-Developmental and Epileptic Encephalopathy.

The approach to Epileptic Encephalopathy treatment includes some of the general principles and approaches to pediatric epilepsy treatment. The most appropriate anti-epileptic treatment is selected based on the type of epilepsy syndrome. Antiseizure medications includes clobazam, vigabatrin, zonisamide, phenobarbital, benzodiazapines, vigabatrin, and others are used for Developmental and Epileptic Encephalopathy treatment. Steroids therapies, vagus nerve stimulation, ketogenic diet and epilepsy surgery are also used for Developmental and Epileptic Encephalopathy management.

 

Our children lacking communication skills and often deprived of significant motor skills are too often seen as objects of curiosity.  Lacking the means of expression and no valid tools to measure their thoughts, the conclusion is too often drawn that there are none. Those of us who know otherwise see the richness of their thoughts. This is often difficult to convey to clinicians, educators and ever harder to researchers.

As many of you know who follow Chatting with Haley and Poppy we started down a new road; the goal is to put our children at the forefront of neuroscience. Currently,  research and its clinical applications lean almost entirely to diagnostic tools that tell us what is wrong with our children. Applications that allow clinicians to tell you what is right with your child are nonexistent. Unfortunately our review of neuroscience literature confirms that neglect.

Fortunately, there is an exception. Hopefully it bears fruit, it is Insension Project funded by the European Union.

https://youtu.be/G8s8U8lxMcw

 

At the rise of devastating symptoms or the receipt of a devastating diagnosis our lives irrevocably change. All expectations of a normal life seem canceled.

We then delve deeply into literature looking for all reasons why. We become numb reading the symptoms. None of this paves the way for how we cope NOW. We will  be deluged with data and opinion declaring the deficiencies of our children. No where is there to be found data and opinion as to preserved proficincies. We are at risk to succumbing  to the belief  there are none.

The scientific journals accessible through Google Scholar number over 1,700,000 on the topic of autism and you are hard pressed to find any research that addresses preserved functions in our non verbal children upon which we could build a better life. Yet the same techniques that identify deficiency can be put to identifying proficiency.

In moving forward on this project we have scanned what seems to be over thousand of those journal articles. We have learned much. One of things we learned is that not much is known about the latent cognitive ABILITY of our silent children, and it is rare that there is an interest in learning more. In fact, literature in these hallowed journals indicate that our children are excluded from most neuroscience research.

What we have also learned is that the CORNERSTONE OF COGNITION IS ATTENTION. And we know that when our bright eyed silent children are engaged they are certainly paying attention.

AND THAT IS THE GATEWAY TO LITERACY.!

AND  THAT ATTENTION  IS MEASURABLE!

AND THAT ATTENTION  IS AN OPEN  INVITATION TO CONVERSATION!

A year or two ago on a walk through a park with Haley I noticed a familiar  cock of the head as we passed under a tree. She noticed the song of bird that was new to us. We stopped. I told her the bird was calling her name, she clapped and smiled. ATTENTION AND CONVERSATION IS EVERYTHING!

 

 

 

 

 

 

 

 

 

 

“There’s really no such thing as the ‘voiceless’. There are only the deliberately silenced, or the preferably unheard”.

Arundhati Roy

As parents and caregivers of non NON VERBAL children many of us dream of communication with our children; we sense that our children have a rich inner life. Yet we get no confirmation from clinicians who seem not to have the tools for confirmation or if they exist, do not have the urgency or willingness to use them.

Our obligation is to ask the question, are these tools available? Poppy and Haley have come to the conclusion that they are. As we have written before the neuroscience industry has shied away from our children if not blatantly avoided them. We believe  the time is now to use their tools that probe attention, intentions and cognition.

Our guiding principle is to view all people without a voice as aspirational, attentional, and intentional despite their inability to convey those characteristics to us. And it starts with our own children.

Haley and I have spent 15 years together. I know her unique abilities and outlook on life. Having joined her class during the homeschooling period I was blessed with the opportunity to get to know her classmates and observe their unique abilities. We need to embrace our unique position and form bonds with neuroscientists.

To that end, Chatting with Haley and Poppy has taken a new direction. We have over the last year successfully opened discussions with two neuroscience institutes who use non invasive technologies to study cognition. We have ongoing discussions with the National Center of Adaptive Neurotechnologies and recently opened dialogue with the Brainwave Learning Center, a project of Stanford University Education Department and Neuroscience Institute.

Please join us by using the comment section to tell us your stories of your child’s unique skills. They are immensely helpful in turning the tide. Finally we look forward to sharing with you the progress we make