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.