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Table 1 Frequency distribution of age, mutation type and prevalence of comorbidities by gender

From: Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

  Female (n = 143) Male (n = 24) Total (n = 167)
n/N (%) n/N (%) n/N (%)
Age group    
 0 < 5 years 58/143 (40.6) 12/24 (50.0) 70/167 (41.9)
 5 < 10 years 49/143 (34.3) 6/24 (25.0) 55/167 (32.9)
 10 years or older 36/143 (25.2) 6/24 (25.0) 42/167 (25.2)
Mutation group    
 No functional protein 41/141 (29.1) 10/23 (43.5) 51/164 (31.1)
 Missense/in-frame mutation within catalytic domain 39/141 (27.7) 6/23 (26.1) 45/164 (27.4)
 Truncation between aa172 and aa781 37/141 (26.2) 1/23 (4.4) 38/164 (23.2)
 Truncation after aa781 15/141 (10.6) 2/23 (8.7) 17/164 (10.4)
 Mutation not grouped 9/141 (6.4) 4/23 (17.4) 13/164 (7.9)
Epilepsy ever 128/130 (98.5) 17/18 (94.4) 145/148 (98.0)
GI health    
 Any GI problem ever 106/123 (86.2) 16/18 (88.9) 122/141 (86.5)
 Constipation ever 85/123 (69.1) 15/18 (83.3) 100/141 (70.9)
 Reflux ever 72/111 (64.9) 10/17 (58.8) 82/128 (64.1)
 Air swallowing ever 32/116 (27.6) 4/17 (23.5) 36/133 (27.1)
 Gastrostomy ever 31/127 (24.4) 11/19 (57.9) 42/146 (28.8)
Sleepa    
 Any sleep problem ever 106/124 (85.5) 16/17 (94.1) 122/141 (86.5)
 Night waking 63/106 (59.4) 9/17 (52.9) 72/123 (58.5)
 Diurnal problemsb 51/108 (47.2) 8/18 (44.4) 59/126 (46.8)
 Teeth grinding 41/108 (38.0) 9/18 (50.0) 50/126 (39.7)
 Night screaming 25/109 (22.9) 4/18 (22.2) 29/127 (22.8)
 Night laughing 28/109 (25.7) 6/18 (33.3) 34/127 (26.8)
 Repetitive actions while falling asleep 29/107 (27.1) 4/18 (22.2) 33/125 (26.4)
Respiratory    
 Any breathing irregularities 33/110 (30.0) 8/16 (50.0) 41/126 (32.5)
 Hyperventilation 15/109 (13.8) 2/16 (12.5) 17/125 (13.6)
 Breath-holding 26/109 (23.9) 7/16 (43.8) 33/125 (26.4)
 Pneumonia ever 18/109 (16.5) 9/17 (52.9) 27/126 (21.4)
 Aspiration 19/107 (17.8) 9/17 (52.9) 28/124 (22.6)
Scoliosis 23/122 (18.9) 5/16 (31.3) 28/138 (20.3)
  1. aIndividuals with frequent sleep problems (1–2 times per week, 3–5 times per week and daily) only
  2. bDiurnal problems: daytime napping