Sensory evoked potentials in patients with Rett syndrome through the lens of animal studies: Systematic review |
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| Affiliation: | 1. The Cognitive Neurophysiology Laboratory, Department of Pediatrics, Albert Einstein College of Medicine & Montefiore Medical Center, Bronx, New York, USA;2. The Cognitive Neurophysiology Laboratory, Ernest J. Del Monte Institute for Neuroscience, Department of Neuroscience, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA;3. The Laboratory of Human Higher Nervous Activity, Institute of Higher Nervous Activity and Neurophysiology, Russian Academy of Sciences, Moscow, Russia;4. Department of Neuroontogenesis, Institute of Higher Nervous Activity and Neurophysiology, Russian Academy of Science, Moscow, Russia;5. Center for Neurocognitive Research (MEG-Center), Moscow State University of Psychology and Education (MSUPE), Moscow, Russia;6. Autism Research Laboratory, Moscow State University of Psychology and Education (MSUPE), Moscow, Russia;1. Department of Pediatrics, Vanderbilt University Medical Center, United States;2. Vanderbilt Kennedy Center for Research on Human Development, United States;3. Vanderbilt University, United States;4. Department of Hearing and Speech Sciences, Vanderbilt University Medical Center, United States;1. Vanderbilt Kennedy Center for Research on Human Development, Nashville, TN 37203, United States;2. Department of Hearing and Speech Sciences, Vanderbilt University Medical Center, Nashville, TN, 37232, United States;3. Department of Psychiatry and Behavioral Sciences, Vanderbilt University Medical Center, Nashville, TN, 37232, United States;4. Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, 37232, United States;1. Center for Integrative Brain Research, Seattle Children''s Research Institute, Seattle, WA 98101, USA;2. Department of Neurological Surgery, University of Washington, Seattle, WA 98101, USA;3. Department of Pediatrics, Section of Neurology, Baylor College of Medicine, Houston, TX, USA;4. Jan and Dan Duncan Neurological Research Institute, Texas Children''s Hospital, Houston, TX, USA |
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| Abstract: | ObjectiveSystematically review the abnormalities in event related potential (ERP) recorded in Rett Syndrome (RTT) patients and animals in search of translational biomarkers of deficits related to the particular neurophysiological processes of known genetic origin (MECP2 mutations).MethodsPubmed, ISI Web of Knowledge and BIORXIV were searched for the relevant articles according to PRISMA standards.ResultsERP components are generally delayed across all sensory modalities both in RTT patients and its animal model, while findings on ERPs amplitude strongly depend on stimulus properties and presentation rate. Studies on RTT animal models uncovered the abnormalities in the excitatory and inhibitory transmission as critical mechanisms underlying the ERPs changes, but showed that even similar ERP alterations in auditory and visual domains have a diverse neural basis. A range of novel approaches has been developed in animal studies bringing along the meaningful neurophysiological interpretation of ERP measures in RTT patients.ConclusionsWhile there is a clear evidence for sensory ERPs abnormalities in RTT, to further advance the field there is a need in a large-scale ERP studies with the functionally-relevant experimental paradigms.SignificanceThe review provides insights into domain-specific neural basis of the ERP abnormalities and promotes clinical application of the ERP measures as the non-invasive functional biomarkers of RTT pathophysiology. |
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| Keywords: | Electroencephalogram (EEG) Event-related potential (ERP) Rett syndrome Translational biomarkers Patients Animal model ABR" },{" #name" :" keyword" ," $" :{" id" :" k0045" }," $$" :[{" #name" :" text" ," _" :" auditory brainstem response ASD" },{" #name" :" keyword" ," $" :{" id" :" k0055" }," $$" :[{" #name" :" text" ," _" :" autistic spectrum disorder CCT" },{" #name" :" keyword" ," $" :{" id" :" k0065" }," $$" :[{" #name" :" text" ," _" :" central conduction time DA" },{" #name" :" keyword" ," $" :{" id" :" k0075" }," $$" :[{" #name" :" text" ," _" :" dopamine DTI" },{" #name" :" keyword" ," $" :{" id" :" k0085" }," $$" :[{" #name" :" text" ," _" :" diffusion tensor imaging EEG" },{" #name" :" keyword" ," $" :{" id" :" k0095" }," $$" :[{" #name" :" text" ," _" :" electroencephalography/electroencephalogram E/I" },{" #name" :" keyword" ," $" :{" id" :" k0105" }," $$" :[{" #name" :" text" ," _" :" excitation/inhibition ERP" },{" #name" :" keyword" ," $" :{" id" :" k0115" }," $$" :[{" #name" :" text" ," _" :" event-related potential FFR" },{" #name" :" keyword" ," $" :{" id" :" k0125" }," $$" :[{" #name" :" text" ," _" :" frequency following response GABA" },{" #name" :" keyword" ," $" :{" id" :" k0135" }," $$" :[{" #name" :" text" ," _" :" gamma-aminobutyric acid IPI" },{" #name" :" keyword" ," $" :{" id" :" k0145" }," $$" :[{" #name" :" text" ," _" :" interpeak intervals KO" },{" #name" :" keyword" ," $" :{" id" :" k0155" }," $$" :[{" #name" :" text" ," _" :" knockout MRI" },{" #name" :" keyword" ," $" :{" id" :" k0165" }," $$" :[{" #name" :" text" ," _" :" magnetic resonance imaging MECP2" },{" #name" :" keyword" ," $" :{" id" :" k0175" }," $$" :[{" #name" :" text" ," _" :" methyl-CpG-binding protein 2 MMN" },{" #name" :" keyword" ," $" :{" id" :" k0185" }," $$" :[{" #name" :" text" ," _" :" mismatch negativity NMDA" },{" #name" :" keyword" ," $" :{" id" :" k0195" }," $$" :[{" #name" :" text" ," $$" :[{" #name" :" italic" ," _" :" N" },{" #name" :" __text__" ," _" :" -methyl-D-aspartate NR2A" },{" #name" :" keyword" ," $" :{" id" :" k0205" }," $$" :[{" #name" :" text" ," _" :" NMDA receptor 2A subunits NR2B" },{" #name" :" keyword" ," $" :{" id" :" k0215" }," $$" :[{" #name" :" text" ," _" :" NMDA receptor 2A subunits PPME" },{" #name" :" keyword" ," $" :{" id" :" k0225" }," $$" :[{" #name" :" text" ," _" :" photosensitive progressive myoclonic epilepsy PV+" },{" #name" :" keyword" ," $" :{" id" :" k0235" }," $$" :[{" #name" :" text" ," _" :" parvalbumin positive (PV+) RTT" },{" #name" :" keyword" ," $" :{" id" :" k0245" }," $$" :[{" #name" :" text" ," _" :" Rett Syndrome SEP" },{" #name" :" keyword" ," $" :{" id" :" k0255" }," $$" :[{" #name" :" text" ," _" :" somatosensory evoked potential SOM" },{" #name" :" keyword" ," $" :{" id" :" k0265" }," $$" :[{" #name" :" text" ," _" :" somatostatin TMS" },{" #name" :" keyword" ," $" :{" id" :" k0275" }," $$" :[{" #name" :" text" ," _" :" Transcranial Magnetic Stimulation VEP" },{" #name" :" keyword" ," $" :{" id" :" k0285" }," $$" :[{" #name" :" text" ," _" :" visual evoked potential WT" },{" #name" :" keyword" ," $" :{" id" :" k0295" }," $$" :[{" #name" :" text" ," _" :" wild-type littermates |
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