Article Figures & Data
Figures
- FIG 1.
Correlation matrices representing functional connectivity between seed regions; (A) control group, (B) AS group, (C) subtraction map of A – B with asterisks identifying significantly different connections between A and B (FDR-corrected, P < .05), and (D) significantly reduced functional connections marked as an asterisk placed on an MNI template for visualization (blue circle: seed region; yellow dotted line: FDR-corrected, P < .05; red dotted line: FDR-corrected, P < .01).
- FIG 2.
Regions with reduced FA in patients with AS compared with age-matched controls, determined by whole brain TBSS. The results show regions that are significantly different with the threshold of TFCE corrected, P < .005. The FA values of corpus callosum and arcuate fasciculus (yellow arrows) are significantly reduced in patients with AS.
- FIG 3.
Boxplot for segmented volume (mm3) of the global GM, cerebral WM, brain segmentation volume (BSV), total intracranial volume (TIV), and cerebellum. The AS group (dark gray box) shows significantly reduced volume of the global GM, cerebral WM, BSV, TIV, and cerebellum compared with the age-matched control group (light gray box). y-axis = mm3; black dots = outliers.
- FIG 4.
Upper 5 plots: boxplots for segmented volume (mm3) of the cerebral white matter and segments of the corpus callosum. Patients with no verbal output (gray box) show significantly reduced volume of aforementioned areas compared with patients who can speak at least a word (black box). Lower 5 plots: boxplots for segmented volume (mm3) of the total gray matter, cortex, corpus callosum (central), right cerebellum cortex, and left amygdala. Patients who were unable to walk alone (light gray box) have significantly reduced volume of aforementioned areas compared with patients who can walk alone (gray box). Asterisks indicate significant difference (P < .05). y-axis = mm3.
Tables
Characteristic Angelman Syndrome (n = 14) Age (months) 95.9 ± 57.8 (range, 3–18 years) Sex (male:female) 7:7 Genetic mutation UBE3A (15q11-q13 deletions) 13 Paternal UPD 1 Seizure 10 (71.4%) Use of at least 1 meaningful word 5 (35.7%) Walking alone 11 (78.6%) Ataxia or tremor 10 (71.4%) Strabismus 5 (35.7%) Ataxia and unable to walk alone 3 (21.4%) Ataxia but walking alone 7 (50.0%) No ataxia (walking alone) 4 (28.6%) Note: UPD indicates uniparental disomy.
- Table 2:
Cortical thicknesses of children with Angelman syndrome compared with the control group
Area Label Brodmann Area Size(mm2) Stereotactic Coordinates (Talairach Space) T (-Log(10)P) x y z Left hemisphere Transverse temporal 22 154.89 −51.1 −16.4 4.4 −4.9827 Postcentral 4 77.17 −60.1 −6.7 10.8 −4.7438 Superior temporal 21 86.13 −50.7 −14.6 −11.9 −4.2409 Right hemisphere Superior temporal 10 39.51 55.8 2.8 −12.3 −4.1946 Postcentral 1 9.20 63.6 −8.9 12.6 −3.8439 Supramarginal 40 37.79 48.0 −23.9 20.5 −3.8319 Superior frontal 8 13.04 11.3 21.6 37.7 −3.8079 - Table 3:
Regional gray matter volume reductions in patients with Angelman syndrome compared with controls based on voxel-based morphometry analysisa
Anatomic Region Number of Voxels in Each Cluster Peak Z Score Coordinates of Voxel of Maximal Statistical Significance (MNI Space) Left putamen, pallidum, caudate nucleus 18,317 7.73 −21, 2, 12 Right caudate nucleus 7.68 9, 11, 15 Right putamen, pallidum 7.66 21, 5, 12 Right rectal gyrus 469 6.16 9, 34,−26 Right superior orbital gyrus Left rectal gyrus Left hippocampus 159 5.96 −20, −34, −0 Left thalamus Left parahippocampal gyrus Left lingual gyrus Left cerebellum (Crus 1, 2) 156 5.95 −51, −48, −36 Left cerebellum (VII, VIII, crus 2) 47 5.67 −46, −43, −50 Left rectal gyrus 28 5.58 −6, 36, −30 Right rectal gyrus Left superior orbital gyrus ↵a Whole-brain analysis (FWE-corrected at P < .001; cluster threshold >20 voxels).
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