Table 2.
GNAO1 cohort adaptive, cognitive, and language evaluation. ABAS: Adaptive Behavior Assessment Systems, PSI: Parent Stress Inventory Test, PedsQ: Pediatric Quality of Life Inventory HRQoL Health Related Quality of Life, RPM: Raven′s Progressive Matrices, TFL: test fono lessicale (Italian language test), and na: not available.
| Patient | ABAS–General Adaptive Score (M100 ds15) | ABAS–Conceptual Score (M100 ds15) | ABAS–Social Score (M100 ds15) | ABAS–Practical Score (M100 ds15) | PSI–Total Stress % | PedsQ–HRQoL % | RPM Raw Score/% or IQ | TFL–Lexical Comprehension Raw Score/% |
|---|---|---|---|---|---|---|---|---|
| 1 | 45 | 45 | 51 | 45 | 75 | 26 | 23 na |
33/45 <5% |
| 2 | 45 | 45 | 51 | 45 | 90 | 42 | 25 >95%/130 |
31/45 75–90% |
| 3 | 45 | 45 | 56 | 45 | 80 | 43 | 17 >95%/130 |
30/45 10–25% |
| 4 | 45 | 45 | 55 | 45 | 90 | 22 | na na |
24/45 <5% |
| 5 | 45 | 45 | 55 | 45 | 80 | 36 | 12 na |
36/45 10–25% |
| 6 | 45 | 45 | 56 | 45 | 90 | 83 | 30 >95%/130 |
42/45 >95% |