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Table 2 Demographics

From: Clinical phenotype of ASD-associated DYRK1A haploinsufficiency

  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)
  1. 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