Fig. 5

Contribution of familial genetic background to head circumference, ASD symptoms, and IQ. UW-SNV cases are presented with their unaffected mothers and fathers on three phenotypic measures: a head circumference (Z score, SD), b ASD symptoms (Social Responsiveness Scale T score), and c IQ (full-scale standard score). Affected children presented with significantly more severe phenotypes compared to both unaffected mothers and fathers using Wilcoxon rank sum tests (p < 0.001). Variability in parental phenotype corresponds to proband variation. Probands with smaller head sizes relative to other UW-SNV cases correspond to parents who also have smaller head size and vice versa. There are similar patterns in cognition, perhaps more pronounced for fathers, such that fathers with higher IQ have probands with higher IQ relative to other DYRK1A cases. Related to social responsiveness, higher parental scores (i.e., greater social impairment) correspond to probands with greater social impairment. Also, note the apparent wider range of IQ variability for fathers (SD = 14.99) relative to mothers (SD = 9.42) and the wider range of head circumference variability for mothers (SD = 1.81) relative to fathers (SD = 0.52)