From: Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome
 | Any GI problem | Constipation | Reflux | Air swallowing | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
 | (n = 94) | (n = 73) | (n = 51) | (n = 25) | ||||||||
 | 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 = 125 |  |  | N = 129 |  |  | N = 116 |  |  | N = 110 |  |  |
Age group | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â |
 0 to <5 years | 50 (40.0) | baseline | – | 52 (40.3) | baseline | – | 48 (41.4) | baseline | – | 44 (40.0) | baseline | – |
 5 to < 10 years | 42 (33.6) | 2.03 (0.83,4.94) | 0.12 | 42 (32.6) | 2.12 (0.90,5.00) | 0.08 | 36 (31.0) | 1.07 (0.42,2.72) | 0.88 | 37 (33.6) | 1.35 (0.37,4.86) | 0.65 |
 10 years or older | 33 (26.4) | 3.5 (1.22,10.08) | 0.02 | 35 (27.1) | 2.78 (1.14,6.74) | 0.02 | 32 (27.6) | 2.24 (0.88,5.71) | 0.09 | 29 (26.4) | 7.48 (1.96,28.53) | 0.003 |
Gender | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â |
 Female | 112 (89.6) | baseline | – | 115 (89.2) | baseline | – | 102 (87.9) | baseline | – | 110 (100) | baseline | – |
 Male | 13 (10.4) | 0.92 (0.25,3.44) | 0.90 | 14 (10.9) | 0.90 (0.28,2.90) | 0.85 | 14 (12.1) | 1.01 (0.31,3.34) | 0.99 | 0 | – | – |
Mutation group | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â |
 No functional protein | 43 (34.4) | baseline | – | 43 (33.3) | baseline | – | 40 (34.5) | baseline | – | 34 (30.9) | baseline | – |
 Missense/in-frame mutation within catalytic domain | 38 (30.4) | 1.27 (0.46,3.50) | 0.64 | 40 (31.0) | 1.62 (0.65,4.03) | 0.30 | 34 (29.3) | 1.73 (0.66,4.51) | 0.27 | 34 (30.9) | 12.14 (2.08,70.68) | 0.01 |
 Truncation between aa172 and aa781 | 30 (24.0) | 0.67 (0.24,1.89) | 0.45 | 31 (24.0) | 2.17 (0.80,5.91) | 0.13 | 29 (25.0) | 1.01 (0.36,2.82) | 0.98 | 29 (26.4) | 8.03 (1.35,48.00) | 0.02 |
 Truncation after aa781 | 14 (11.2) | 0.81 (0.21,3.07) | 0.76 | 15 (11.6) | 0.74 (0.21,2.58) | 0.64 | 13 (11.2) | 0.49 (0.11,2.13) | 0.34 | 13 (11.8) | 14.21 (1.83,110.22) | 0.01 |