Table 1 Demographics and clinical data.

From: Opposing white matter microstructure abnormalities in 22q11.2 deletion and duplication carriers

 

Healthy controls (HC)

22q11.2 deletion carriers (22q-del)

22q11.2 duplication carriers (22q-dup)

Test statistic

N

18

26

19

 

Age (years): [mean ± std]

[19.51 ± 10.91]

[20.47 ± 8.80]

[22.24 ± 14.41]

F = 0.28, df = 2, p = 0.76

Sex, F = female / M = male: n (%)

F: 14 (78%), M: 4 (22%)

F: 17 (65%), M: 9 (35%)

F: 8 (42%), M: 11 (58%)

H = 5.13, df = 2, p = 0.077

VOC, T-score: n [mean ± std]

18 [60.06 ± 9.60]

26 [41.77 ± 8.42]

19 [46.58 ± 11.37]

F = 19.34, df = 2, p < 0.001

Matrix, T-score: n [mean ± std]

18 [58.22 ± 9.48]

26 [40.00 ± 9.52]

19 [48.42 ± 11.66]

F = 17.04, df = 2, p < 0.001

Full Scale IQ: n [mean ± std]

18 [115.78 ± 15.26]

26 [84.35 ± 12.40]

19 [95.74 ± 18.36]

F = 22.79, df = 2, p < 0.001

WRAT4, T-score: n [mean ± std]

15 [59.67 ± 11.33]

26 [45.38 ± 6.26]

19 [45.21 ± 14.07]

F = 10.42, df = 2, p < 0.001

GAF: n [mean ± std]

18 [85.93 ± 12.45]

26 [54.71 ± 18.30]

19 [59.65 ± 13.15]

F = 23.75, df = 2, p < 0.001

BPRS Total Score: n [mean ± std]

17 [24.76 ± 1.60]

25 [36.80 ± 9.54]

17 [33.12 ± 6.93]

F = 13.86, df = 2, p < 0.001

SIPS Positive Symptoms total score: n [mean ± std]

16 [1.13 ± 2.31]

26 [4.50 ± 5.96]

18 [2.44 ± 2.97]

F = 3.06, df = 2, p = 0.054

SIPS Negative Symptoms total score: n [mean ± std]

16 [0.94 ± 1.91]

26 [9.77 ± 8.04]

18 [6.61 ± 5.41]

F = 10.15, df = 2, p < 0.001

SIPS Disorganized Symptoms total score: n [mean ± std]

16 [.63 ± 1.15]

26 [4.54 ± 3.70]

17 [2.47 ± 3.12]

F = 8.41, df = 2, p < 0.001

Meets criteria for psychosis-risk symptoms

1

10

3

 

• The Wechsler Abbreviation Scale for Intelligence-2 Vocabulary (VOC) and Matrix Reasoning (Matrix) subtests and the Wide Range Achievement Test 4 (WRAT4) Reading subtest were used to assessing IQ and reading ability, respectively [58, 59]. Higher values present better performance. • The Global Assessment of Functioning score (GAF) was employed to assess general functioning. Lower values present more functional impairments, with values below 70 being associated with at least moderate symptoms [57]. • Several rating scales were administered to determine psychiatric symptoms:o BPRS = Brief Psychiatric Rating Scale- Expanded Version: 24 items: 1 (not present), 2 (very mild), 3 (mild), 4 (moderate), 5 (moderately severe), 6 (severe), 7 (extremely severe) [50,51,52]o SIPS = Structured Interview for Psychosis Risk Syndromes [53]: symptoms are rated on the following scale: 0 (absent), 1 (questionably present), 2 (mild), 3 (moderate), 4 (moderately severe), 5 (severe but not psychotic), 6 (severe and psychotic).