Skip to main content

Table 3 The proportion of individuals with the CDKL5 disorder of a particular current age who had attained various gross motor, communication and hand milestones

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

  Age at completion of questionnaire
1.5 years and under 1.5–7 years 7–13 years 13 years and over
Developmental skill Females (n = 11) Males (n = 1) Females (n = 50) Males (n = 10) Females (n = 32) Males (n = 5) Females (n = 16) Males (n = 2)
Gross motor  
Roll front to back 4 (36.4) 1 (100) 46 (92) 5 (50) 27 (84) 2 (40) 14 (88) 1 (50)
Roll back to front 5 (45) 1 (100) 47 (94) 5 (50) 26 (81) 2 (40) 14 (88) 1 (50)
Transition from sitting to crawling position 1 (9) 1 (100) 23 (46) 3 (30) 16 (50) 0 (0) 5 (31) 1 (50)
Crawl 1 (9) 0 (0) 12 (24) 2 (20) 10 (31) 0 (0) 4 (25) 1 (50)
Stand with support 2 (18) 1 (100) 37 (74) 3 (30) 22 (69) 1 (20) 10 (63) 1 (50)
Pull to stand 1 (9) 0 (0) 13 (26) 2 (20) 14 (44) 1 (20) 6 (38) 1 (50)
Walk with support 1 (9) 0 (0) 24 (48) 1 (10) 16 (50) 1 (20) 8 (50) 1 (50)
Fine motor  
Transfer from hand to hand 3 (27) 1 (100) 25 (50) 2 (20) 18 (56) 0 (0) 8 (50) 0 (0)
Play with blocks 0 (0) 0 (0) 8 (16) 1 (10) 8 (25) 0 (0) 2 (13) 0 (0)
Social and communication  
Social smile 8 (73) 1 (100) 38 (76) 7 (70) 18 (56) 1 (20) 9 (56) 0 (0)a
Fix and follow 3 (30.0)a 1 (100) 39 (78) 4 (40) 23 (72) 1 (20) 10 (67)a 1 (100)a
Wave goodbye 0 (0.0) 0 (0) 11 (22) 1 (10) 4 (13) 0 (0) 1 (6) 0 (0)
Respond to own name 4 (36) 1 (100) 33 (66) 3 (33.3)a 20 (63) 2 (40) 9 (56) 0 (0)
Point to things that he/she wants 0 (0.0) 0 (0) 6 (12) 1 (10) 8 (26)a 0 (0) 2 (13) 0 (0)
Respond to others emotions 4 (36) 1 (100) 23 (47)a 4 (40) 11 (34) 1 (20) 4 (25) 1 (50)
Respond to ‘no’ 2 (18) 0 (0) 16 (32) 2 (25)a 13 (41) 0 (0) 4 (25) 0 (0)
Phrases 0 (0.0) 0 (0) 3 (6) 0 (0) 3 (9) 0 (0) 1 (6) 0 (0)
  1. aThe denominator in this group varies.