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- Title
Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome.
- Authors
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.; Powell, Craig M.; Siper, Paige M.; Soorya, Latha; Thaliath, Andrew; Thurm, Audrey; Zhang, Bo; Sahin, Mustafa; Levin, April R.
- 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.
- Subjects
INTELLECTUAL disabilities; ELECTROENCEPHALOGRAPHY; COMPULSIVE behavior; AUTISM spectrum disorders; DELETION mutation; EPILEPSY; SYNDROMES
- Publication
Molecular Autism, 2021, Vol 12, Issue 1, p1
- ISSN
2040-2392
- Publication type
Article
- DOI
10.1186/s13229-020-00411-9