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

Academic Article


  • 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.
  • Authors

    Published In

  • Molecular Autism  Journal
  • Keywords

  • Cross-frequency coupling, EEG, Phase bias, Phelan-McDermid syndrome, Power, Autism Spectrum Disorder, Chromosome Deletion, Chromosome Disorders, Chromosomes, Human, Pair 22, Electroencephalography, Humans
  • Digital Object Identifier (doi)

    Author List

  • Mariscal MG; Berry-Kravis E; Buxbaum JD; Ethridge LE; Filip-Dhima R; Foss-Feig JH; Kolevzon A; Modi ME; Mosconi MW; Nelson CA
  • Start Page

  • 29
  • Volume

  • 12
  • Issue

  • 1