Background
Materials and methods
Participants
VCFS | Siblings | P-value | |
---|---|---|---|
(N = 33) | (N = 16) | ||
Gender (N, % female)
| 21 (64%) | 8 (50%) | N.S. |
Race (Caucasian/Asian)
| 32/1 | 15/1 | N.S. |
Age, in years (+/− SD)
| 17.7 (1.8) | 18.0 (1.7) | N.S. |
FSIQ (+/− SD)
| 73 (12.9) | 113 (11.5) | < 0.001 |
Psychiatric Diagnoses | VCFS (N = 33) | Siblings (N = 16) |
---|---|---|
N (%) | N (%) | |
Schizophrenia | 1 (3.0) | 0 (0) |
Major depressive disorder (includes NOS) | 6 (18.2) | 0 (0) |
Bipolar disorder | 1 (3.0) | 0 (0) |
Anxiety disorder (includes generalized, overanxious, separation and panic) | 7 (21.2) | 0 (0) |
Simple or social phobia | 11 (33.3) | 3 (18.75) |
ADHD | 10 (30.3) | 1 (6.25) |
Enuresis | 1 (3.0) | 0 (0) |
Chronic motor or vocal tic disorder | 2 (6.1) | 0 (0) |
Oppositional defiant disorder | 3 (9.1) | 0 (0) |
Any disorder listed above | 20 (60.6) | 3 (18.75) |
DTI acquisition
DTI processing and data analysis
Neuropsychological Testing
Attention, Memory and Executive Functioning Measures
Social Cognition/Skills Measures
Statistical Analysis
Results
Domain | Measure | Left Hemisphere | |||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Frontal/Temp | Parietal/Occipital A/P Long Tracts Cer | ||||||||||
CGC | SCR | RLIC | EC | PTR | PCR | SLF | IFO | SS | SCP | ||
Memory & Attention
| Digit Span FW | 0.19 | 0.15 | 0.13 | 0.29 | 0.19 | 0.07 | 0.14 | 0.22 | 0.19 |
0.35
*
|
Digit Span BW | 0.15 | 0.15 | 0.17 | 0.08 |
0.37
*
| 0.20 | 0.23 | 0.20 | 0.21 | 0.34 | |
Visual Span FW | 0.33 | 0.28 | 0.31 | 0.25 |
0.36
*
|
0.47
**
|
0.40
*
| 0.28 | 0.29 | 0.25 | |
Visual Span BW | 0.34 | 0.28 | 0.43
*
| 0.29 |
0.52
**
|
0.48
**
|
0.47
**
|
0.40
*
|
0.38
*
| 0.27 | |
CVLT_List A, Trials 1–5 | 0.07 | 0.18 | 0.08 | 0.09 | 0.30 | 0.35 |
0.37
*
| 0.14 | 0.16 | 0.21 | |
Executive Function
| WCST Perseverative Error | 0.18 | 0.30 | 0.33 | 0.21 |
0.45
**
|
0.43
*
|
0.50
**
| 0.27 | 0.33 | 0.34 |
BRIEF Behavioral Regulation | 0.00 | −0.18 | −0.17 | −0.24 |
−0.42
*
| −0.28 | −0.30 | −0.23 | −0.16 | −0.30 | |
BRIEF Metacognition | −0.15 | −0.15 | −0.22 | −0.26 |
−0.51
**
| −0.31 | −0.34 | −0.32 | −0.18 | −0.27 | |
Social Cognition
| BASC Social Skills | 0.08 | 0.16 | 0.11 | 0.23 | 0.24 | 0.28 | 0.29 | 0.17 | 0.21 | 0.26 |
Socialization
| Vineland Soc Skills | 0.01 | 0.19 | 0.21 | 0.28 |
0.45
**
|
0.37
*
|
0.40
*
| 0.27 | 0.33 | 0.29 |
SRS | −0.08 | −0.25 | −0.26 | −0.27 |
−0.49
**
|
−0.42
*
|
−0.42
*
| −0.30 | −0.25 | −0.33 | |
Emotion
| Emotion Recognition | 0.17 | 0.24 | 0.33 | 0.20 | 0.30 | 0.27 | 0.33 | 0.20 | 0.10 | 0.22 |
Psychiatric
| BASC Anxiety | −0.06 | −0.21 | −0.08 | −0.07 | −0.31 | −0.28 | −0.27 | −0.11 | −0.19 | −0.34 |
Symptoms
| BASC Atypicality | −0.01 | −0.30 | −0.25 | −0.24 |
−0.37
*
| −0.35 |
−0.36
*
| −0.27 | −0.15 | −0.30 |
CGAS | 0.07 | 0.24 | 0.06 | 0.12 |
0.39
*
| 0.33 |
0.37
*
| 0.21 | 0.16 | 0.26 | |
Overall
| Verbal IQ | 0.32 | 0.34 |
0.47
**
|
0.35
*
|
0.52
**
|
0.54
**
|
0.55
**
|
0.36
*
|
0.43
*
|
0.43
*
|
Cognition
| Performance IQ |
0.39
*
|
0.38
*
|
0.50
**
|
0.35
*
|
0.62
***
|
0.55
**
|
0.54
**
|
0.38
*
|
0.45
*
|
0.42
*
|
Domain | Measure | Right Hemisphere | ||||||
---|---|---|---|---|---|---|---|---|
Frontal/Temp Parietal/Occipital A/P Long Tracts Cer | ||||||||
CGC | SCR | PTR | PCR | SLF | IFO | SCP | ||
Memory & Attention
| Digit Span FW | 0.23 | 0.20 | 0.25 | 0.17 | 0.16 | 0.25 |
0.36
*
|
Digit Span BW | 0.24 | 0.12 |
0.38
*
| 0.26 | 0.30 |
0.36
*
|
0.44
*
| |
Visual Span FW |
0.42
*
|
0.38
*
| 0.29 |
0.48
**
|
0.47
**
|
0.48
**
| 0.25 | |
Visual Span BW |
0.38
*
| 0.24 | 0.25 | 0.51 |
0.57
**
|
0.61
***
| 0.29 | |
CVLT_List A, , Trials 1–5 | 0.18 | 0.17 | 0.29 |
0.36
*
|
0.38
*
| 0.25 | 0.26 | |
Executive Function
| WCST Perseverative Error | 0.29 | 0.29 |
0.37
*
|
0.48
**
|
0.58
**
|
0.48
**
| 0.32 |
BRIEF Behavioral Regulation | −0.17 | −0.31 | −0.28 |
−0.40
*
|
−0.48
**
| −0.34 | −0.17 | |
BRIEF Metacognition | −0.22 |
−0.36
*
| −0.30 |
−0.45
**
|
−0.53
**
|
−0.41
*
| −0.18 | |
Social Cognition
| BASC Social Skills | 0.14 | 0.14 | 0.23 | 0.29 |
0.43
*
| 0.24 | 0.22 |
Socialization
| Vineland Soc Skills | 0.17 | 0.22 | 0.27 |
0.38
*
|
0.54
**
|
0.41
*
| 0.31 |
SRS | −0.24 | −0.34 | −0.27 |
−0.49
**
|
0.41
*
|
−0.44
*
| −0.27 | |
Emotion
| Emotion Recognition | 0.24 | 0.15 | 0.17 |
0.28
|
0.38
*
|
0.41
*
| 0.23 |
Psychiatric
| BASC Anxiety | −0.13 | −0.23 | −0.19 | −0.34 |
−0.39
*
| −0.22 | −0.31 |
Symptoms
| BASC Atypicality | −0.16 |
−0.38
*
| −0.26 |
−0.44
*
|
−0.48
**
|
−0.35
*
| −0.23 |
CGAS | 0.11 | 0.29 | 0.31 |
0.44
*
|
0.57
**
|
0.39
*
| 0.33 | |
Overall
| Verbal IQ |
0.44
*
| 0.24 |
0.46
**
|
0.48
**
|
0.60
***
|
0.52
**
|
0.47
**
|
Cognition
| Performance IQ |
0.49
**
|
0.37
*
|
0.45
**
|
0.58
**
|
0.63
***
|
0.62
***
|
0.47
**
|
Discussion
Differences between individuals with VCFS and siblings
DTI correlates of neuropsychological performance
Limitations
Conclusions and Future Directions
Endnotes
Appendix
Tract | AD Orig P | AD FDR P | RD Orig P | RD FDR P | FA Orig P | FA FDR P |
---|---|---|---|---|---|---|
ACR_L
|
0.012
|
0.039
| N.S. | N.S. | N.S. | N.S. |
CGC_L
|
0.011
|
0.037
| N.S. | N.S. | N.S. | N.S. |
CGC_R
|
0.001
|
0.003
|
0.018
| N.S. | N.S. | N.S. |
CP_L
| N.S. | N.S. | N.S. | N.S. |
0.014
| N.S. |
EC_L
|
3.4E-04
|
0.002
| N.S. | N.S. |
0.022
| N.S. |
Fx_R
|
0.021
| N.S. |
0.019
| N.S. |
0.048
| N.S. |
Fx_L
| N.S. | N.S. |
0.037
| N.S. | N.S. | N.S. |
Fx/ST_L
| N.S. | N.S. | N.S. | N.S. |
0.013
| N.S. |
IFO_L
|
2.0E-04
|
0.001
| N.S. | N.S. | N.S. | N.S. |
IFO_R
|
5.6E-06
|
<0.001
| N.S. | N.S. |
0.029
| N.S. |
PCR_L
|
1.8E-08
|
<0.001
|
0.004
| N.S. | N.S. | N.S. |
PCR_R
|
9.2E-07
|
<0.001
|
0.001
|
0.038
| N.S. | N.S. |
PLIC_R
| N.S. | N.S. |
0.048
| N.S. | N.S. | N.S. |
PTR_L
|
3.0E-08
|
<0.001
|
0.018
| N.S. | N.S. | N.S. |
PTR_R
|
0.001
|
0.005
|
0.013
| N.S. | N.S. | N.S. |
RLIC_L
|
7.2E-05
|
0.001
| N.S. | N.S. | N.S. | N.S. |
RLIC_R
| N.S. | N.S. |
0.024
| N.S. | N.S. | N.S. |
SCP_L
|
3.5E-04
|
0.002
| N.S. | N.S. | N.S. | N.S. |
SCP_R
|
3.4E-04
|
0.002
| N.S. | N.S. |
0.045
| N.S. |
SCR_L
|
0.003
|
0.009
|
0.048
| N.S. | N.S. | N.S. |
SCR_R
|
0.015
|
0.046
|
0.003
| N.S. | N.S. | N.S. |
SFO_L
| N.S. | N.S. | N.S. | N.S. |
0.025
| N.S. |
SLF_L
|
3.3E-06
|
<0.001
|
0.020
| N.S. | N.S. | N.S. |
SLF_R
|
5.2E-09
|
<0.001
|
0.024
| N.S. | N.S. | N.S. |
SS_L
|
2.6E-04
|
0.002
| N.S. | N.S. | N.S. | N.S. |
SS_R
|
0.038
| N.S. | N.S. | N.S. | N.S. | N.S. |
UNC_L
| N.S. | N.S. | N.S. | N.S. |
0.001
|
0.020
|
UNC_R
| N.S. | N.S. |
0.036
| N.S. |
0.001
|
0.020
|