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Molecular Autism
Published in: Molecular Autism 1/2021

Open Access 01-12-2021 | Autism Spectrum Disorder | Research

Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome

Authors: Michael. G. Mariscal, Elizabeth Berry-Kravis, Joseph D. Buxbaum, Lauren E. Ethridge, Rajna Filip-Dhima, Jennifer H. Foss-Feig, Alexander Kolevzon, Meera. E. Modi, Matthew W. Mosconi, Charles A. Nelson, Craig M. Powell, Paige M. Siper, Latha Soorya, Andrew Thaliath, Audrey Thurm, Bo Zhang, Mustafa Sahin, April R. Levin, the Developmental Synaptopathies Consortium

Published in: Molecular Autism | Issue 1/2021

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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 (n = 26) and typically developing individuals (n = 15). 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 (U = 3.841, p < 0.0005), 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 (Beta = 0.545, p = 0.011).

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.
Appendix
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Metadata
Title
Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome
Authors
Michael. G. Mariscal
Elizabeth Berry-Kravis
Joseph D. Buxbaum
Lauren E. Ethridge
Rajna Filip-Dhima
Jennifer H. Foss-Feig
Alexander Kolevzon
Meera. E. Modi
Matthew W. Mosconi
Charles A. Nelson
Craig M. Powell
Paige M. Siper
Latha Soorya
Andrew Thaliath
Audrey Thurm
Bo Zhang
Mustafa Sahin
April R. Levin
the Developmental Synaptopathies Consortium
Publication date
01-12-2021
Publisher
BioMed Central
Published in
Molecular Autism / Issue 1/2021
Electronic ISSN: 2040-2392
DOI
https://doi.org/10.1186/s13229-020-00411-9

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