Table 3. Neurodevelopmental Outcomes in Post Hoc Analysis.
| Neurodevelopmental testa | Presence of chromatin dDNV and/or pLOF variant | P value from mixed model | |
|---|---|---|---|
| Yes (n = 16) | No (n = 202) | ||
| Academics | |||
| WRAT-4 (≥8 y)b | |||
| Reading composite | |||
| No. | 15 | 177 | NA |
| Score, range | 54-131 | 54-137 | .08 |
| Score, mean (SD) | 95.5 (20.30) | 104.2 (14.97) | |
| Spelling | |||
| No. | 15 | 177 | NA |
| Score, range | 54-117 | 54-145 | .15 |
| Score, mean (SD) | 95.4 (15.9) | 103.4 (16.5) | |
| Math computation | |||
| No. | 16 | 193 | NA |
| Score, range | 54-124 | 41-139 | .51 |
| Score, mean (SD) | 94.0 (19.9) | 97.8 (18.0) | |
| Intelligence | |||
| WISC-V (<16 y) or WAIS-IV (≥16 y)b | |||
| Full-Scale IQ all ages standard score | |||
| No. | 16 | 193 | NA |
| Score, range | 39-129 | 39-136 | .13 |
| Score, mean (SD) | 89.9 (20.5) | 97.8 (17.5) | |
| Verbal Comprehension Index all ages standard score | |||
| No. | 16 | 200 | NA |
| Score, range | 49-130 | 44-145 | .01 |
| Score, mean (SD) | 91.4 (20.4) | 103.4 (17.8) | |
| WAIS-IV (≥16 y)b | |||
| Working memory | |||
| No. | 5 | 87 | NA |
| Score, range | 49-95 | 49-136 | .03 |
| Score, mean (SD) | 73.8 (16.4) | 97.2 (15.7) | |
| ADOS-2 and SRS-2 | |||
| Composite outcome defined by ADOS-2 and SRS-2 total score, No. (%)c | |||
| Nonspectrum | 10 (71.4) | 147 (94.8) | .01 |
| Autism or autism spectrum | 4 (28.6) | 8 (5.2) | |
| SRS-2 total scorec | |||
| No. | 15 | 183 | NA |
| Score, range | 38-99 | 11-99 | .03 |
| Score, mean (SD) | 57.3 (17.2) | 49.4 (11.2) | |
Abbreviations: ADOS-2, Autism Diagnostic Observation Schedule, Second Edition; dDNV, damaging de novo variant; NA, not applicable; pLOF, potential loss of function; SRS-2, Social Responsiveness Scale, Second Edition; WAIS-IV, Wechsler Adult Intelligence Scale, Fourth Edition; WISC-V, Wechsler Intelligence Scale for Children, Fifth Edition; WRAT-4, Wide Range Achievement Test, Fourth Edition.
a
The normative mean score is 100, and the SD is 15 for all tests, with these exceptions: SRS-2 (reports T score ≥76 for severe, 66-75 for moderate, 60-65 for mild, and <60 for typical symptoms).28
b
A lower score indicates more impairment.
c
A higher score indicates more impairment.