Journal
MOLECULAR AUTISM
Volume 12, Issue 1, Pages -Publisher
BMC
DOI: 10.1186/s13229-020-00411-9
Keywords
Phelan-McDermid syndrome; EEG; Power; Cross-frequency coupling; Phase bias
Categories
Funding
- National Institute of Neurological Disorders And Stroke of the National Institutes of Health (NINDS)
- Eunice Kennedy Shriver National Institute Of Child Health and Human Development (NICHD)
- National Institute Of Mental Health (NIMH)
- Intramural Research Program of the NIMH [1ZICMH002961]
- National Center For Advancing Translational Sciences (NCATS)
- Child Neurology Foundation
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The study found that individuals with PMS show increased alpha-gamma phase bias, particularly over posterior electrodes. Most individuals with PMS demonstrate positive overall phase bias, while typically developing individuals show negative overall phase bias. Among those with PMS, the strength of alpha-gamma phase-amplitude coupling is associated with specific behavioral traits.
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.
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