Chatting with Haley and Poppy 

 Editor’s Note: Chatting with Haley and Poppy is a platform to advocate for children who are nonverbal. In ensuing posts, we will suggest published articles with the potential to reveal the preserved cognitive abilities of these children.

For those parents, caregivers, teachers, aides, researchers and clinicians who believe in the preserved cognition of children who are nonverbal, listen up. There is foundation for your beliefs. Your skill is based on science, it is the science of kinesics. Credit for that science is given to anthropologist Ray L. Birdwhistell. 

“Man is a multi-sensorial being. Occasionally he verbalizes … and we must seriously examine the implications of the fact that man does not communicate by word alone.”

Ray Birdwhistell 

For 16 years Haley and I have communicated utilizing kinesics. Although she is nonverbal her understanding is reflected in her gestures, body movements, eye gaze, vocalizations, facial expressions, physiological condition, and her environmental and social circumstances. Through her non-verbal behavior she demonstrates her cognition.

In a previous email we featured the Insension Project which used identical technology to build a design and develop an ICT platform that enables persons with profound and multiple learning disabilities (PIMD) to communicate their intentions. 

Non-Verbal Communication by Autistic Children

Conclusion: “Children with disabilities, especially autistic children should not be shunned or discriminated against because of their limitations. However, they must be given more opportunities to communicate and interact even through non-verbal communication. Hopefully this research can change people’s views about autistic children who are often seen as unable to do anything and experience obstacles in communication. They can be more sensitive or even more aware of the presence of those children, because basically all human beings are created both normal humans and those who have limitations also have the same rights.”

Contact:  Ed Fennell efennell43@gmail.com

838 218 4337 Please call or email with your comments or suggestions for feature articles.

 

Chatting with Haley and Poppy

Editor’s Note: Chatting with Haley and Poppy is a platform to advocate for children who are non verbal and diagnosed with developmental and epileptic encephalopathy. In ensuing posts we will suggest published articles in neuroimaging journals with the potential to reveal the preserved cognitive abilities of these children. The recipients of this mail are either current correspondents or professionals in the field. By all means suggest articles or make comments by email or phone listed below.

Dear Colleague,

I am leading an initiative for the International Foundation of CDKL5 Research that focuses on an underserved population. This population is comprised of children without motor or speech responses required by standardized assessments. Lacking the means of expression and no valid tools to measure their intelligence, the conclusion is too often drawn that there is no intelligence. Consequently there is no reseach on the preserved cognitive function of these children.

The aversion to research in this population is clearly evident in autism research. “Ninety-four (94%) of all participants identified as being on the autism spectrum in the studies reviewed did not have Intellectual Disability. Eight out of ten studies demonstrated selection bias against participants with ID”. (Russel, Mnady et al).

To initiate research to study the preserved cognitive functions and establish biomarkers for such I have put together a network, consisting of the International Foundation of CDKL5 Research and the National Center of Adaptive Neurotechnologies, (NCAN), BCI4KIDS in Calgary and Augmentative and Alternative Communication Translation (AACT) Lab at University of Nebraska. All have expressed an interest in studying this population and their preserved cognitive function.

I am fortunate to have the support of the National Center of Adaptive Neurotechnologies, (NCAN), leaders in BCI technology and Tim Benke, a clinician and researcher who is a leader and specialist in children with developmental and epileptic encephalopathy.

Finally, I share that I am quite fortunate to be the primary caregiver to a delightful girl of 16 years whom I have the privilege of homeschooling. She has a diagnosis of CDKL5. As my colleagues remind me I have my own lab with an n of (1).

Ed Fennell 838 218 4337

Chatting with Haley and Poppy is proud to introduce the Incension Project. It represents a landmark step for CHILDREN who cannot speak for themselves. It was funded by the European Union from 2019 to 2021. It had success and proof of concept yet funding was discontinued. We introduced ourselves to the project director who would like to continue this work. It was carried out surprisingly by large supercomputing firm who had the foresight to see how information and communication technology (ICT) could benefit those with profound learning and mental disorders (PLMD). 

The International community is a few steps ahead. Hopefully we can help to fill this gap.

TAKE TIME TO VISIT THEIR SITE AND BY ALL MEANS WATCH THE VIDEO. (TAP BELOW)

https://www.insension.eu/

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.