Skip to main content

Table 2 Prevalence of comorbidities by mutation group in 164 individuals with the CDKL5 disorder

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

  No functional protein (n = 51) Missense/in-frame mutation within catalytic domain (n = 45) Truncation between aa172 and aa781 (n = 38) Truncation after aa781 (n = 17)
  n/N (%) n/N (%) n/N (%) n/N (%)
Epilepsy ever 47/48 (97.6) 39/40 (96.8) 32/32 (100.0) 16/16 (100.0)
GI health     
 Any GI problem 30/43 (69.8) 28/38 (73.7) 18/30 (60.0) 9/14 (64.3)
 Constipation 20/43 (46.5) 23/40 (57.5) 20/31 (64.5) 6/15 (40.0)
 Reflux ever 16/40 (40.0) 17/34 (50.0) 11/29 (37.9) 3/13 (23.1)
 Air swallowing 2/41 (4.9) 10/38 (26.3) 7/30 (23.3) 4/15 (26.7)
 Gastrostomy ever 14/45 (31.1) 14/41 (34.2) 8/32 (25.0) 3/16 (18.8)
Sleepa     
 Any sleep problem ever 41/45 (91.1) 35/40 (87.5) 24/30 (80.0) 14/16 (87.5)
 Persistent night waking 26/39 (66.7) 21/33 (63.6) 14/28 (50.0) 6/12 (50.0)
 Diurnal problemsb 18/41 (43.9) 19/34 (55.9) 13/28 (46.4) 6/12 (50.0)
 Teeth grinding 15/40 (37.5) 13/34 (38.2) 11/28 (39.3) 4/13 (30.8)
 Night screaming 11/40 (27.5) 12/35 (34.3) 2/28 (7.1) 2/13 (15.4)
 Night laughing 12/40 (30.0) 12/35 (34.3) 6/28 (21.4) 1/13 (7.7)
 Repetitive actions while falling asleep 11/40 (27.5) 8/33 (24.2) 6/28 (21.4) 4/13 (30.8)
Respiratory     
 Any breathing irregularities 12/41 (29.3) 14/35 (40.0) 8/30 (26.7) 1/9 (11.1)
 Hyperventilation 3/44 (6.8) 3/34 (17.7) 5/30 (16.7) 1/9 (11.1)
 Breath-holding 11/41 (26.8) 11/33 (33.3) 6/30 (20.0) 1/10 (10.0)
 Pneumonia ever 10/42 (23.8) 5/33 (15.2) 6/28 (21.4) 3/12 (25.0)
 Aspiration ever 12/41 (29.3) 6/33 (18.2) 6/27 (22.2) 1/12 (8.3)
Scoliosis 9/44 (20.5) 9/40 (22.5) 7/30 (23.3) 2/15 (13.3)
  1. aindicates that only individuals with frequent sleep problems (1–2 times per week, 3–5 times per week and daily rather than monthly or less frequently) were classified as having the sleep problem
  2. bDiurnal problems: daytime napping