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

被引:26
作者
Blackmon, Karen [1 ,2 ]
Thesen, Thomas [1 ,2 ,3 ]
Green, Sophie [1 ]
Ben-Avi, Emma [1 ,2 ]
Wang, Xiuyuan [1 ,3 ]
Fuchs, Benjamin [1 ]
Kuzniecky, Ruben [1 ]
Devinsky, Orrin [1 ]
机构
[1] NYU, Sch Med, Epilepsy Div, Dept Neurol, 135 East 32nd St,Room 824, New York, NY 10016 USA
[2] St Georges Univ, Sch Med, Dept Physiol Neurosci & Behav Sci, True Blue Point, Grenada
[3] NYU, Sch Med, Dept Radiol, New York, NY 10016 USA
关键词
cortical thickness; focal cortical dysplasia; magnetic resonance imaging; malformations of cortical development; voxel-based lesion symptom mapping; SURFACE-BASED ANALYSIS; HUMAN CEREBRAL-CORTEX; ARCUATE FASCICULUS; NUMBER; AUTISM; EPILEPSY; CHILDREN; SURGERY; LESION;
D O I
10.1093/cercor/bhx143
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
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.
引用
收藏
页码:2422 / 2430
页数:9
相关论文
共 44 条
[1]  
Ahmed B, 2014, PR MACH LEARN RES, V32, P1080
[2]   Cortical feature analysis and machine learning improves detection of "MRI-negative" focal cortical dysplasia [J].
Ahmed, Bilal ;
Brodley, Carla E. ;
Blackmon, Karen E. ;
Kuzniecky, Ruben ;
Barash, Gilad ;
Carlson, Chad ;
Quinn, Brian T. ;
Doyle, Werner ;
French, Jacqueline ;
Devinsky, Orrin ;
Thesen, Thomas .
EPILEPSY & BEHAVIOR, 2015, 48 :21-28
[3]   Abnormal auditory and language pathways in children with 16p11.2 deletion [J].
Berman, Jeffrey I. ;
Chudnovskaya, Darina ;
Blaskey, Lisa ;
Kuschner, Emily ;
Mukherjee, Pratik ;
Buckner, Randall ;
Nagarajan, Srikantan ;
Chung, Wendy K. ;
Spiro, John E. ;
Sherr, Elliott H. ;
Roberts, Timothy P. L. .
NEUROIMAGE-CLINICAL, 2015, 9 :50-57
[4]   Focal cortical dysplasias in autism spectrum disorders [J].
Casanova, Manuel F. ;
El-Baz, Ayman S. ;
Kamat, Shweta S. ;
Dombroski, Brynn A. ;
Khalifa, Fahmi ;
Elnakib, Ahmed ;
Soliman, Ahmed ;
Allison-McNutt, Anita ;
Switala, Andrew E. .
ACTA NEUROPATHOLOGICA COMMUNICATIONS, 2013, 1
[5]   Perisylvian language networks of the human brain [J].
Catani, M ;
Jones, DK ;
Ffytche, DH .
ANNALS OF NEUROLOGY, 2005, 57 (01) :8-16
[6]   The arcuate fasciculus and the disconnection theme in language and aphasia: History and current state [J].
Catani, Marco ;
Mesulam, Marsel .
CORTEX, 2008, 44 (08) :953-961
[7]   Seizure outcome after epilepsy surgery in patients with normal preoperative MRI [J].
Chapman, K ;
Wyllie, E ;
Najm, I ;
Ruggieri, P ;
Bingaman, W ;
Lüders, J ;
Kotagal, P ;
Lachhwani, D ;
Dinner, D ;
Lüders, HO .
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2005, 76 (05) :710-713
[8]   Cortical surface-based analysis - I. Segmentation and surface reconstruction [J].
Dale, AM ;
Fischl, B ;
Sereno, MI .
NEUROIMAGE, 1999, 9 (02) :179-194
[9]  
DAngelo D, Cardiff University Experiences of Children With Copy Number Variants ( ECHO) Study
[10]   An automated labeling system for subdividing the human cerebral cortex on MRI scans into gyral based regions of interest [J].
Desikan, Rahul S. ;
Segonne, Florent ;
Fischl, Bruce ;
Quinn, Brian T. ;
Dickerson, Bradford C. ;
Blacker, Deborah ;
Buckner, Randy L. ;
Dale, Anders M. ;
Maguire, R. Paul ;
Hyman, Bradley T. ;
Albert, Marilyn S. ;
Killiany, Ronald J. .
NEUROIMAGE, 2006, 31 (03) :968-980