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Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome
Mariscal, Michael G. Berry-Kravis, Elizabeth Buxbaum, Joseph D. Ethridge, Lauren E. Filip-Dhima, Rajna Foss-Feig, Jennifer H. Kolevzon, Alexander Modi, Meera E. Mosconi, Matthew W. Nelson, Charles A.
Mariscal, Michael G.
Berry-Kravis, Elizabeth
Buxbaum, Joseph D.
Ethridge, Lauren E.
Filip-Dhima, Rajna
Foss-Feig, Jennifer H.
Kolevzon, Alexander
Modi, Meera E.
Mosconi, Matthew W.
Nelson, Charles A.
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Abstract
Background
Phelan-McDermid Syndrome (PMS) is a rare condition caused by deletion or mutation of the SHANK3 gene. Individuals with PMS frequently present with intellectual disability, autism spectrum disorder, and other neurodevelopmental challenges. Electroencephalography (EEG) can provide a window into network-level function in PMS.
Methods
Here, we analyze EEG data collected across multiple sites in individuals with PMS (nā=ā26) and typically developing individuals (nā=ā15). We quantify oscillatory power, alpha-gamma phase-amplitude coupling strength, and phase bias, a measure of the phase of cross frequency coupling thought to reflect the balance of feedforward (bottom-up) and feedback (top-down) activity.
Results
We find individuals with PMS display increased alpha-gamma phase bias (Uā=ā3.841, pā<ā0.0005), predominantly over posterior electrodes. Most individuals with PMS demonstrate positive overall phase bias while most typically developing individuals demonstrate negative overall phase bias. Among individuals with PMS, strength of alpha-gamma phase-amplitude coupling was associated with Sameness, Ritualistic, and Compulsive behaviors as measured by the Repetitive Behavior Scales-Revised (Betaā=ā0.545, pā=ā0.011).
Conclusions
Increased phase bias suggests potential circuit-level mechanisms underlying phenotype in PMS, offering opportunities for back-translation of findings into animal models and targeting in clinical trials.
Description
Date
2021-04-28
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Publisher
BMC
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Keywords
Phelan-McDermid syndrome, EEG, Power, Cross-frequency coupling, Phase bias
Citation
Mariscal, M. G., Berry-Kravis, E., Buxbaum, J. D., Ethridge, L. E., Filip-Dhima, R., Foss-Feig, J. H., Kolevzon, A., Modi, M. E., Mosconi, M. W., Nelson, C. A., Powell, C. M., Siper, P. M., Soorya, L., Thaliath, A., Thurm, A., Zhang, B., Sahin, M., Levin, A. R., & Developmental Synaptopathies Consortium (2021). Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome. Molecular autism, 12(1), 29. https://doi.org/10.1186/s13229-020-00411-9