Table 1.
Demographics and clinical data.
| 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) [50–52]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). | ||||