Skip to main content

Table 4 The relationship between genotype and developmental milestone acquisition in females

From: There is variability in the attainment of developmental milestones in the CDKL5 disorder

Milestone No functional protein Missense/in-frame mutation within catalytic domain Truncation between aa 172 and aa 781 inclusive Truncation after aa 781
  Number (%) Median age skill attained (years) Number (%) Median age skill attained (years) Number (%) Median age skill attained (years) Number (%) Median age skill attained (years)
Sitting 17/33 (52) 2 18/27 (67) 3 10/26 (38) - 10/12 (83) 1.2
Standing 6/32 (19) - 5/28 (18) - 8/28 (29) - 5/10 (50) 5
Walking 6/34 (18) - 4/28 (14) - 6/28 (21) - 5/12 (42)  
Babble 13/29 (45) - 13/27 (48) 6 12/25 (44) - 4/8 (50) 1
Single words 4/32 (13) - 3/28 (11) - 6/28 (21) - 3/10 (30)  
Raking grasp 12/29 (44) 7 16/25 (64) 4 8/22 (36) 12 7/9 (78) 2
Pincer grasp 3/32 (9) - 2/28 (7) - 2/28 (7) - 4/10 (40) -
  1. (-) Values blank as less than 50% attained the particular skill.