Focal Cortical Anomalies and Language Impairment in 16p11.2 Deletion and Duplication Syndrome

Karen Blackmon, Thomas Thesen, Sophie Green, Emma Ben-Avi, Xiuyuan Wang, Benjamin Fuchs, Ruben Kuzniecky, Orrin Devinsky

Research output: Contribution to journalArticlepeer-review

21 Citations (Scopus)


Individuals with copy number variants (CNV) in the 16p11.2 chromosomal region are at high risk for language disorders. We investigate whether the extent and location of focal cortical anomalies are associated with language impairment in individuals with 16p11.2 CNVs. High-resolution T1-weighted MRI scans from 30 16p11.2 deletion (16p-del), 25 16p11.2 duplication (16p-dup), and 90 noncarrier controls (NCC) were analyzed to derive personalized cortical anomaly maps through single-case cortical thickness (CT) comparison to age-matched normative samples. Focal cortical anomalies were elevated in both 16p-del and 16p-dup and their total extent was inversely correlated with Full-Scale IQ. Clusters of abnormally thick cortex were more extensive in the 16p-del group and clusters of abnormally thin cortex were more extensive in the 16p-dup group. Abnormally thick clusters were more extensive in left lateral temporal and bilateral postcentral and mesial occipital regions in 16p-del. Focal cortical anomalies in the left middle temporal region and pars opercularis (Broca's region) of children with 16-del were associated with lower scores on a comprehensive language evaluation. Results extend neuroanatomical findings in 16p11.2 syndrome to include spatially heterogenous focal cortical anomalies that appear to disrupt language ability in accordance with the functional specialization of left frontotemporal regions.

Original languageEnglish
Pages (from-to)2422-2430
Number of pages9
JournalCerebral Cortex
Issue number7
Publication statusPublished - 1 Jul 2018
Externally publishedYes


  • Cortical thickness
  • Focal cortical dysplasia
  • Magnetic resonance imaging
  • Malformations of cortical development
  • Voxel-based lesion symptom mapping


Dive into the research topics of 'Focal Cortical Anomalies and Language Impairment in 16p11.2 Deletion and Duplication Syndrome'. Together they form a unique fingerprint.

Cite this