Table 3.
Pub-SNV and UW-SNV (n = 42) | Pub-CHR (n = 19) | Total (n = 61) | ||||||||
---|---|---|---|---|---|---|---|---|---|---|
Phenotypic characteristic | N | Total | % | N | Total | % | N | Total | % | Sig (Fisher’s exact tests) |
Intellectual disability or Global Developmental Delay | 41 | 42 | 98 | 19 | 19 | 100 | 60 | 61 | 98 | NS |
Speech delay | 42 | 42 | 100 | 19 | 19 | 100 | 61 | 61 | 100 | NS |
Motor difficulties | 38 | 38 | 100 | 14 | 15 | 93 | 52 | 53 | 98 | NS |
Microcephaly | 39 | 42 | 93 | 19 | 19 | 100 | 58 | 61 | 95 | NS |
Feeding difficulties | 37 | 40 | 93 | 14 | 14 | 100 | 51 | 54 | 94 | NS |
Vision abnormalities | 26 | 33 | 79 | 8 | 9 | 89 | 34 | 42 | 81 | NS |
Seizures | 26 | 39 | 67 | 16 | 19 | 84 | 42 | 58 | 72 | NS |
ASD diagnosis | 16 | 35 | 46 | 2 | 7 | 29 | 18 | 42 | 43 | NS |
Stereotyped behaviors | 22 | 36 | 61 | 4 | 9 | 44 | 26 | 45 | 58 | NS |
Anxious behaviors | 11 | 36 | 31 | 1 | 8 | 13 | 12 | 44 | 27 | NS |
Hyperactive behaviors | 10 | 35 | 29 | 4 | 8 | 50 | 14 | 43 | 33 | NS |
Behavioral differences | 35 | 42 | 83 | 7 | 19 | 37 | 42 | 61 | 69 | NS |
6+ symptoms including ASD | 25 | 42 | 60 | 7 | 19 | 37 | 32 | 61 | 52 | NS |
6+ symptoms including broader behavioral difficulties | 32 | 42 | 76 | 10 | 19 | 53 | 42 | 61 | 69 | NS |
Frequency of phenotypic features in cases with disruptive SNVs (Pub-SNV and UW-SNV) to DYRK1A, published chromosomal rearrangements (Pub-CHR) to DYRK1A, and total combined cases. Totals reflect those with complete data. Groups did not significantly differ in gender ratio (Fisher’s exact test) or age (independent sample t test), p > 0.05. Fisher’s exact tests used for group comparisons, Sig significance, NS not significant