Table 5.
DYRK1A (UW-SNV) | SSC idiopathic subset | CHD8 | t statistics DYRK1A vs SSC | t statistics DYRK1A vs CHD8 | t statistics CHD8 vs SSC | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Phenotypic characteristic | Mean | SD | N | Mean | SD | N | Mean | SD | N | t | d | t | d | t | d |
Head circumference Z score | − 3.62 | 2.17 | 10 | 1.21 | 0.39 | 10 | 1.76 | 2.9 | 11 | 6.94* | 3.10 | 6.49** | 2.84 | NS | – |
Full-scale IQ | 45.30 | 18.14 | 10 | 81.20 | 26.12 | 10 | 60.91 | 27.39 | 11 | 3.57* | 1.60 | NS | – | NS | – |
Overall adaptive functioning | 54.80 | 9.04 | 10 | 70.50 | 9.40 | 10 | 65.00 | 18.49 | 12 | 3.81* | 1.70 | NS | – | NS | – |
Autism severity (ADOS CSS) | 6.50 | 2.80 | 10 | 7.70 | 1.25 | 10 | 8.18 | 1.78 | 11 | NS | – | NS | – | NS | – |
Age walked unaided | 19.70 | 5.64 | 10 | 13.22 | 2.59 | 10 | 18.50 | 4.38 | 12 | NS | – | NS | – | NS | – |
Age of first single words | 45.14 | 22.82 | 7 | 17.50 | 7.92 | 10 | 25.17 | 28.01 | 12 | NS | – | NS | – | NS | – |
Descriptives for phenotypic variables commonly impaired in DYRK1A haploinsufficiency for three groups: DYRK1A (n = 10), SSC idiopathic subset randomly samples and matched on age and gender (n = 10), and CHD8 (n = 12). Group comparisons using independent sample t tests between (1) DYRK1A and SSC groups, (2) DYRK1A and CHD8 groups, and (3) CHD8 and SSC groups. *Significant differences between DYRK1A and idiopathic groups, p < 0.002; **Significant differences between DYRK1A and CHD8 groups, p < 0.001. Independent sample t and Cohen’s d values provided when significant, p value adjusted for multiple comparisons, NS not significant