title: A Quantitative Electrophysiological Biomarker of Duplication 15q11.2-q13.1 Syndrome.
abstract: BACKGROUND
  Duplications of 15q11.2-q13.1 (Dup15q syndrome) are highly penetrant for autism spectrum disorder (ASD). A distinct electrophysiological (EEG) pattern characterized by excessive activity in the beta band has been noted in clinical reports. We asked whether EEG power in the beta band, as well as in other frequency bands, distinguished children with Dup15q syndrome from those with non-syndromic ASD and then examined the clinical correlates of this electrophysiological biomarker in Dup15q syndrome.
  
  
  METHODS
  In the first study, we recorded spontaneous EEG from children with Dup15q syndrome (n = 11), age-and-IQ-matched children with ASD (n = 10) and age-matched typically developing (TD) children (n = 9) and computed relative power in 6 frequency bands for 9 regions of interest (ROIs). Group comparisons were made using a repeated measures analysis of variance. In the second study, we recorded spontaneous EEG from a larger cohort of individuals with Dup15q syndrome (n = 27) across two sites and examined age, epilepsy, and duplication type as predictors of beta power using simple linear regressions.
  
  
  RESULTS
  In the first study, spontaneous beta1 (12-20 Hz) and beta2 (20-30 Hz) power were significantly higher in Dup15q syndrome compared with both comparison groups, while delta (1-4 Hz) was significantly lower than both comparison groups. Effect sizes in all three frequency bands were large (|d| > 1). In the second study, we found that beta2 power was significantly related to epilepsy diagnosis in Dup15q syndrome.
  
  
  CONCLUSIONS
  Here, we have identified an electrophysiological biomarker of Dup15q syndrome that may facilitate clinical stratification, treatment monitoring, and measurement of target engagement for future clinical trials. Future work will investigate the genetic and neural underpinnings of this electrophysiological signature as well as the functional consequences of excessive beta oscillations in Dup15q syndrome.
authors.affiliation: Center for Autism Research and Treatment University of California, Los Angeles Semel Institute for Neuroscience 760 Westwood Plaza, Suite A7-452 Los Angeles, California United States of America.
authors.forename: Joel
authors.initials: J
authors.lastname: Frohlich
authors.affiliation: Department of Biostatistics UCLA School of Public Health Room 21-254C CHS Los Angeles, CA United States of America.
authors.forename: Damla
authors.initials: D
authors.lastname: Senturk
authors.affiliation: Center for Autism Research and Treatment University of California, Los Angeles Semel Institute for Neuroscience 760 Westwood Plaza, Suite A7-452 Los Angeles, California United States of America.
authors.forename: Vidya
authors.initials: V
authors.lastname: Saravanapandian
authors.affiliation: Department of Neurology and Psychiatry David Geffen School of Medicine 710 Westwood Plaza Los Angeles, CA United States of America.
authors.forename: Peyman
authors.initials: P
authors.lastname: Golshani
authors.affiliation: Departments of Neurology and Pediatrics The University of Tennessee Health Science Center 855 Monroe Ave., Link 415 Memphis, TN United States of America.
authors.forename: Lawrence T
authors.initials: LT
authors.lastname: Reiter
authors.affiliation: Departments of Neurology and Pediatrics David Geffen School of Medicine at UCLA Los Angeles, CA United States of America.
authors.forename: Raman
authors.initials: R
authors.lastname: Sankar
authors.affiliation: Department of Neurology, Massachusetts General Hospital Harvard Medical School Boston, MA United States of America.
authors.forename: Ronald L
authors.initials: RL
authors.lastname: Thibert
authors.affiliation: Center for Autism Research and Treatment University of California, Los Angeles Semel Institute for Neuroscience 760 Westwood Plaza, Suite A7-452 Los Angeles, California United States of America.
authors.forename: Charlotte
authors.initials: C
authors.lastname: DiStefano
authors.affiliation: Center for Autism Research and Treatment University of California, Los Angeles Semel Institute for Neuroscience 760 Westwood Plaza, Suite A7-452 Los Angeles, California United States of America.
authors.forename: Scott
authors.initials: S
authors.lastname: Huberty
authors.affiliation: Department of Psychiatry University of Illinois at Chicago (MC 747) Chicago, IL United States of America.
authors.forename: Edwin H
authors.initials: EH
authors.lastname: Cook
authors.affiliation: Center for Autism Research and Treatment University of California, Los Angeles Semel Institute for Neuroscience 760 Westwood Plaza, Suite A7-452 Los Angeles, California United States of America.
authors.forename: Shafali S
authors.initials: SS
authors.lastname: Jeste
mesh_terms: D000293:Adolescent; D000067877:Autism Spectrum Disorder / Q000503:physiopathology; D015415:Biomarkers; D002540:Cerebral Cortex / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002884:Chromosomes, Human, Pair 15; D004568:Electrodiagnosis / Q000379:methods*; D004569:Electroencephalography / Q000379:methods*; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis* / Q000503:physiopathology; D008297:Male; D055815:Young Adult
chemical_list: D015415:Biomarkers