title: Relationship between M100 Auditory Evoked Response and Auditory Radiation Microstructure in 16p11.2 Deletion and Duplication Carriers.
abstract: Deletion and duplication of chromosome 16p11.2 (BP4-BP5) have been associated with developmental disorders such as autism spectrum disorders, and deletion subjects exhibit a large (20-ms) delay of the auditory evoked cortical response as measured by magnetoencephalography (M100 latency). The purpose of this study was to use a multimodal approach to test whether changes in white matter microstructure are associated with delayed M100 latency.
  
  
  
  Thirty pediatric deletion carriers, 9 duplication carriers, and 39 control children were studied with both magnetoencephalography and diffusion MR imaging. The M100 latency and auditory system DTI measures were compared between groups and tested for correlation.
  
  
  
  In controls, white matter diffusivity significantly correlated with the speed of the M100 response. However, the relationship between structure and function appeared uncoupled in 16p11.2 copy number variation carriers. The alterations to auditory system white matter microstructure in the 16p11.2 deletion only partially accounted for the 20-ms M100 delay. Although both duplication and deletion groups exhibit abnormal white matter microstructure, only the deletion group has delayed M100 latency.
  
  
  
  These results indicate that gene dosage impacts factors other than white matter microstructure, which modulate conduction velocity.
authors: From the Department of Radiology (J.I.B., D.C., L.B., E.K., T.P.L.R.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania Department of Radiology (J.I.B., T.P.L.R.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania bermanj@email.chop.edu.
authors: J I
authors: 0000-0001-5946-5548
authors: JI
authors: Berman
authors: From the Department of Radiology (J.I.B., D.C., L.B., E.K., T.P.L.R.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
authors: D
authors: 0000-0002-6336-988X
authors: D
authors: Chudnovskaya
authors: From the Department of Radiology (J.I.B., D.C., L.B., E.K., T.P.L.R.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
authors: L
authors: 0000-0002-5909-3622
authors: L
authors: Blaskey
authors: From the Department of Radiology (J.I.B., D.C., L.B., E.K., T.P.L.R.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
authors: E
authors: 0000-0003-1251-1468
authors: E
authors: Kuschner
authors: Departments of Radiology (P.M.).
authors: P
authors: 0000-0001-7473-7409
authors: P
authors: Mukherjee
authors: Department of Psychology (R.B.), Harvard University, Cambridge, Massachusetts.
authors: R
authors: 0000-0001-6422-8037
authors: R
authors: Buckner
authors: Departments of Pediatrics and Medicine (S.N., W.K.C.), Columbia University Medical Center, New York, New York.
authors: S
authors: 0000-0001-7209-3857
authors: S
authors: Nagarajan
authors: Departments of Pediatrics and Medicine (S.N., W.K.C.), Columbia University Medical Center, New York, New York.
authors: W K
authors: 0000-0003-3438-5685
authors: WK
authors: Chung
authors: Neurology (E.H.S.), University of California, San Francisco School of Medicine, San Francisco, California.
authors: E H
authors: 0000-0002-4118-5385
authors: EH
authors: Sherr
authors: From the Department of Radiology (J.I.B., D.C., L.B., E.K., T.P.L.R.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania Department of Radiology (J.I.B., T.P.L.R.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
authors: T P L
authors: 0000-0001-7320-4870
authors: TP
authors: Roberts
mesh_terms: D001306:Auditory Pathways / Q000473:pathology*; D002648:Child; D002872:Chromosome Deletion; D058674:Chromosome Duplication; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics* / Q000503:physiopathology*; D005072:Evoked Potentials, Auditory / Q000502:physiology*; D005260:Female; D006801:Humans; D015225:Magnetoencephalography / Q000379:methods; D008297:Male