From: Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome
 | Any autonomic dysfunction | Breath-holding | Hyperventilation | Respiratory problemab | Pneumonia everb | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
 | (n = 41) | (n = 33) | (n = 17) | (n = 28) | (n = 27) | ||||||||||
 | n (%) | OR (95 % CI) | p value | n (%) | OR (95 % CI) | p value | n (%) | OR (95 % CI) | p value | n (%) | OR (95 % CI) | p value | n (%) | OR (95 % CI) | p value |
 | N = 115 |  |  | N = 114 |  |  | N = 117 |  |  | N = 111 |  |  | N = 115 |  |  |
Age group | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â |
 0 to <5 years | 47 (40.9) | baseline | – | 46 (40.4) | baseline | – | 49 (41.9) | baseline | – | 44(39.6) | – | – | 47 (40.9) | – | – |
 5 to 10 years | 39 (33.9) | 1.83 (0.68,4.95) | 0.24 | 40 (35.1) | 2.15 (0.74,6.19) | 0.16 | 38 (32.5) | 1.92 (0.49,7.59) | 0.35 | 37(33.3) | – | – | 37 (32.2) | – | – |
 10 years or older | 29 (25.2) | 2.18 (0.76,6.25) | 0.15 | 28 (24.6) | 1.72 (0.54,5.45) | 0.36 | 30 (25.6) | 2.58 (0.61,10.83) | 0.20 | 30(27.0) | – | – | 31 (27.0) | – | – |
Gender | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â |
 Female | 102 (88.7) | baseline | – | 101 (88.6) | baseline | – | 104 (88.9) | baseline | – | 97 (87.4) | baseline | – | 101 (87.8) | baseline | – |
 Male | 13 (11.3) | 3.65 (1.02,13.04) | 0.05 | 13 (11.4) | 4.71 (1.30,16.99) | 0.02 | 13 (11.1) | 0.70 (0.08,6.23) | 0.75 | 14 (12.6) | 5.84 (1.67,20.47) | 0.01 | 14 (12.2) | 7.51 (2.16,26.09) | 0.002 |
Mutation group | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â |
 No functional protein | 41 (35.7) | baseline | – | 41 (36.0) | baseline | – | 44 (37.6) | baseline | – | 40 (36.0) | baseline | – | 42 (36.5) | baseline | – |
 Missense/in-frame mutation within catalytic domain | 35 (30.4) | 1.94 (0.69,5.48) | 0.21 | 33 (29.0) | 1.56 (0.52,4.68) | 0.43 | 34 (29.1) | 3.02 (0.67,13.65) | 0.15 | 33 (29.7) | 1.17 (0.34,3.99) | 0.80 | 33 (28.7) | 0.77 (0.21,2.84) | 0.70 |
 Truncation between aa172 and aa781 | 30 (26.1) | 1.12 (0.36,3.46) | 0.85 | 30 (26.3) | 0.85 (0.25,2.88) | 0.80 | 30 (25.6) | 2.69 (0.55,13.03) | 0.22 | 26 (23.4) | 1.13 (0.30,4.30) | 0.86 | 28 (24.4) | 1.42 (0.40,5.03) | 0.58 |
 Truncation after aa781 | 9 (7.8) | 0.30 (0.03,2.76) | 0.30 | 10 (8.8) | 0.29 (0.03,2.72) | 0.28 | 9 (7.7) | 1.52 (0.13,17.50) | 0.74 | 12 (10.8) | 0.65 (0.11,3.84) | 0.63 | 12 (10.4) | 1.18 (0.23,6.08) | 0.85 |