Figure 2.

Key time to event measures and milestones in WDR45-related disease. (A) In the WDR45 population, important events included the presence of seizures, refractory epilepsy, loss of independent ambulation (IA) and loss of assisted ambulation (AA). Other events, such as feeding tube placement, were not consistently found in the medical records or literature. The dark blue bars represent event attained, light blue is not attained, while white bars represent unknown (UK). (B) Age at first seizure was compared across sex cohorts and was not significantly different (n=63 females; n=14 males; Mann Whitney test, two-tailed p value p=0.0590). (C) Developmental skill acquisition plots (“developmental heat maps”) were created to visualize the difference in development between females (left) and males (right). The designation of ‘10’ represents less than 10% of the population has acquired a milestone by the age indicated on the x-axis, while the designation of ‘90’ represents that up to 90% of the population has acquired the skill by the given age. The color-coded heat map indicates the percentage of the population who has attained the milestone at a given age, as shown on the x-axis. milestone acquisition by genotype. (D) Age at developmental skill acquisition was presented with Kaplan-Meier curves as compared across females (blue, solid line) and males (black, dotted line). P-values were calculated using the logrank test comparing sexes (p values included in figure).