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) |
|---|---|---|---|---|
| Â | 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 | Â | Â | Â | Â |
 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 | Â | Â | Â | Â |
 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 | Â | Â | Â | Â |
 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) |