Table 2.
Demographics
| DYRK1A sample | SSC idiopathic sample | CHD8 sample | ||||
|---|---|---|---|---|---|---|
| Disruptive SNVs | CHR | No disruptive SNVs or deleterious CNVs | Disruptive SNVs | |||
| Pub-SNV | UW-SNV | Pub-CHR | Total sample | IQ < 70 | ||
| Total N (male) | 32 (22) | 10 (4) | 19 (9) | 1981 (1705) | 487 (407) | 12(9) |
| Mean age in months (SD) | 124.12 (128.85) | 108.40 (69.12) | 102.22 (88.06) | 107.66 (42.34) | 114.00 (44.00) | 148.08 (64.56) |
Participant demographics. SNV single nucleotide variant, Pub-SNV published disruptive SNV cases, UW-SNV UW study cases with disruptive SNVs, Pub-CHR published chromosomal rearrangement, CNV copy number variant. Note that there are three overlapping individuals in the Pub-SNV and UW-SNV groups ascertained from the Simons Simplex Collection. DYRK1A sample significantly differed from idiopathic ASD samples (total and IQ < 70) in gender ratio, χ2 (1, n = 2042) = 66.88, p < 0.001 and χ2 (1, n = 548) = 36.25, p < 0.001, respectively. Samples did not significantly differ in age, p > 0.05. No significant differences in age or gender for DYRK1A and CHD8 samples