Table 2.
Patient baseline characteristics
| Characteristic | Study population (N = 38) |
|---|---|
| Male, n (%) | 38 (100) |
| Age, years | |
| Median (range) | 4.90 (2.11–16.74) |
| Age subgroups, n (%) | |
| < 7 years | 27 (71.1) |
| ≥ 7 years | 11 (28.9) |
| Race, n (%) | |
| Asian | 2 (5.3) |
| African American | 1 (2.6) |
| White | 32 (84.2) |
| Other | 3 (7.9) |
| Genotype category, n (%) | |
| Frameshift | 3 (7.9) |
| Large deletion | 1 (2.6) |
| Missense/presumed missense | 20 (52.6) |
| Nonsense | 3 (7.9) |
| Premature truncated | 2 (5.3) |
| Presumed splice site/splice site | 9 (23.7) |
| Baseline DAS-II GCA scorea subgroups, n (%) | |
| ≤ 70 | 16 (42.1) |
| > 70 | 16 (42.1) |
| Missing | 6 (15.8) |
| Baseline DAS-II GCA scorea, n = 32 | |
| Mean (SD) | 73.1 (14.4) |
| Baseline VABS-II ABC scoreb, n = 36 | |
| Mean (SD) | 81.8 (11.8) |
ABC Adaptive Behavior Composite; DAS-II Differential Ability Scales, second edition; GCA General Conceptual Ability; SD standard deviation; VABS-II Vineland Adaptive Behavior Scales, second edition
aStandard scores of ≤ 69, 70–79, 80–89 and 90–109 indicate very low, low, below average and average function, respectively
bStandard scores of ≤ 70, 71–85 and 86–114 indicate low, moderately low and adequate adaptive levels, respectively