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

Autor: Mariscal MG; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Berry-Kravis E; Department of Pediatrics, Rush University Medical Center, Chicago, IL, USA.; Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, USA.; Department of Biochemistry, Rush University Medical Center, Chicago, IL, USA., Buxbaum JD; Seaver Autism Center, Icahn School of Medicine at Mount Sinai Hospital, New York, NY, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY, USA.; Department of Neuroscience, Mount Sinai School of Medicine, New York, NY, USA., Ethridge LE; Department of Pediatrics, University of Oklahoma Health Science Center, Oklahoma City, OK, USA., Filip-Dhima R; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Foss-Feig JH; Seaver Autism Center, Icahn School of Medicine at Mount Sinai Hospital, New York, NY, USA., Kolevzon A; Seaver Autism Center, Icahn School of Medicine at Mount Sinai Hospital, New York, NY, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Modi ME; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Mosconi MW; Clinical Child Psychology Program, Schiefelbusch Institute for Life Span Studies, University of Kansas, Lawrence, KS, USA., Nelson CA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA., Powell CM; Department of Neurobiology, UAB School of Medicine, Birmingham, AL, USA., Siper PM; Seaver Autism Center, Icahn School of Medicine at Mount Sinai Hospital, New York, NY, USA., Soorya L; Department of Psychiatry, Rush University Medical Center, Chicago, IL, USA., Thaliath A; Department of Pediatrics, Rush University Medical Center, Chicago, IL, USA., Thurm A; Intramural Research Program, National Institute of Mental Health, Bethesda, USA., Zhang B; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Sahin M; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Levin AR; Department of Neurology, Boston Children's Hospital, Boston, MA, USA. April.Levin@childrens.harvard.edu.
Jazyk: angličtina
Zdroj: Molecular autism [Mol Autism] 2021 Apr 28; Vol. 12 (1), pp. 29. Date of Electronic Publication: 2021 Apr 28.
DOI: 10.1186/s13229-020-00411-9
Abstrakt: 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.
Databáze: MEDLINE
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