Table 1.
Demographics
| Variable | Pretreatment detailed cohort (n = 48) | Expanded cohorta (n = 102) | p-Valueb | |
|---|---|---|---|---|
| n (%) | n (%) | |||
| Sex | Male | 27 (56.25) | 58 (56.86) | 0.906 |
| Female | 21 (43.75) | 44 (43.14) | ||
| Genotype | TREX1 | 6 (12.5) | 18 (17.65) | 0.241 |
| RNASEH2B | 13 (27.08) | 29 (28.43) | ||
| RNASEH2A | 1 (2.08) | 6 (5.88) | ||
| RNASEH2C | 1 (2.08) | 2 (1.96) | ||
| SAMHD1 | 9 (18.75) | 19 (18.63) | ||
| ADAR1 | 9 (18.75) | 16 (15.5) | ||
| IFIH1 | 9 (18.75) | 12 (11.76) | ||
| HC | Microcephaly | 22 (45.83) | 53 (53%) | 0.168 |
| Normocephaly | 26 (54.17) | 47 (47%) | ||
| Age of onset (months) | Mean | 11.34 (SD: 29.41) | 8.78 (SD: 23.52) | 0.039 |
| Median | 4 (range: 0–204) | 3.5 (range: 0–204) | ||
| Age at last evaluation (months) | Mean | 74.10 (SD: 74.72) | 73.5 (SD: 74.07) | 0.606 |
| Median | 37.0 (range: 2.0–266) | 45 (range: 2–266) | ||
Abbreviations: HC, HC: head circumference; SD, standard deviation.
a
Inclusive of the detailed cohort.
b
p-Values were obtained using the chi-squared test for categorical variables and the Wilcoxon rank sum test for age of onset and age of evaluation.