Table 4.
Total DYRK1A sample (n = 61) | DYRK1A ascertained for ASD (n = 18) | SSC idiopathic ascertained for ASD (n = 1981) | Sig (total DYRK1A vs idio total) | SSC idiopathic ASD with IQ < 70 (n = 487) | Sig (total DYRK1A vs idio IQ < 70) | |||||
---|---|---|---|---|---|---|---|---|---|---|
Phenotypic characteristic | N/total | % | N/total | % | N/total | % | N | % | ||
Intellectual disability or Global Developmental Delay | 60/61 | 98 | 18/18 | 100 | 487/1974 | 25 | p < 0.001 | 487/487 | 100 | – |
Speech delay | 61/61 | 100 | 18/18 | 100 | 1173/1981 | 59 | p < 0.001 | 343/487 | 70 | p < 0.001 |
Motor difficulties | 52/53 | 98 | 18/18 | 100 | 963/1981 | 49 | p < 0.001 | 253/487 | 52 | p < 0.001 |
Microcephaly | 58/61 | 95 | 16/18 | 89 | 31/1958 | 2 | p < 0.001 | 10/485 | 2 | p < 0.001 |
Feeding difficulties | 51/54 | 94 | 16/18 | 89 | 386/1981 | 19 | p < 0.001 | 112/487 | 15 | p < 0.001 |
Vision abnormalities | 34/42 | 81 | 16/18 | 67 | 355/1981 | 18 | p < 0.001 | 60/487 | 12 | p < 0.001 |
5+ symptoms | 48/61 | 79 | 16/18 | 89 | 6/1981 | 0.30 | – | 5/487 | 1 | – |
Frequency of core phenotypic features (included if reported in 75% or more cases) observed in total DYRK1A sample (Pub-SNV, UW-SNV, and Pub-CHR) compared to frequency of same features in those with DYRK1A mutations ascertained for ASD, a large sample of cases with idiopathic ASD from the Simons Simplex Collection (ascertained for ASD), and a subset of idiopathic cases with IQ < 70. Totals reflect those with complete data. Fisher’s exact tests used to compare total DYRK1A sample to both idiopathic samples on each phenotypic characteristic; all group differences significant, p < 0.001. Sig significance