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 | ||||
|---|---|---|---|---|---|---|---|---|
| Â | 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) | Â |
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) | Â |
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) | - |