FIGURE 7.

Early features that correlate with outcomes in MSD. A, Venn diagram showing the overlap between subjects presenting in the neonatal period (<1 mo, dark red, n = 9), subjects with a severe genotype (light red, n = 6), subjects presenting after the neonatal period (>1 mo, dark blue, n = 14), and subjects with attenuated genotypes (light blue, n = 17). The cohort was divided by age of onset before or after 1 month, and the number of subjects that attained, B, independent ambulation, and C, multiword speech are shown (chi‐square test, P values as labeled). D, Freedom from regression divided by age of onset is shown (log‐rank Mantel‐Cox test, P = .0005). E, Survival divided by age of onset is shown (log‐rank Mantel‐Cox test, P = .016). The cohort was also divided by genotype severity (attenuated = score of 2‐3, severe = score of 4), and the number of subjects that attained (F) independent ambulation, and G, multiword speech are shown (chi‐square test, P values as labeled). Freedom from regression divided by genotype severity is shown (log‐rank Mantel‐Cox test, P < .0001). Neurologic regression (H) and survival (I) are presented by Kaplan‐Meier curves, with subcohorts defined by genotype severity (log‐rank Mantel‐Cox test, P < .0001 and P = .047, respectively)