From: Twenty years of surveillance in Rett syndrome: what does this tell us?
ARSDa(n = 150) | InterRett (n = 273) | Overall (N = 423) | |
---|---|---|---|
Mutation type, n (%) | |||
C-terminal | 11 (9.9) | 8 (6.6) | 19 (8.2) |
Early truncating | 7 (6.3) | 6 (4.9) | 13 (5.6) |
Large deletion | 6 (5.4) | 5 (4.1) | 11 (4.7) |
p.Arg106Trp | 4 (3.6) | 6 (4.9) | 10 (4.3) |
p.Arg133Cys | 10 (9.0) | 7 (5.7) | 17 (7.3) |
p.Arg168*c | 12 (10.8) | 9 (7.4) | 21 (9.0) |
p.Arg255* | 9 (8.1) | 10 (8.2) | 19 (8.2) |
p.Arg270* | 9 (8.1) | 8 (6.6) | 17 (7.3) |
p.Arg294* | 9 (8.1) | 7 (5.7) | 16 (6.9) |
p.Arg306Cys | 6 (5.4) | 6 (4.9) | 12 (5.2) |
p.Thr158Met | 12 (10.8) | 4 (3.3) | 16 (6.9) |
Other | 16 (14.4) | 46 (37.7) | 62 (26.6) |
Total | 111d | 122e | 233 |
Medical conditions, n/N b (%) | |||
Seizures | 64/144 (44.4) | 122/267 (45.7) | 186/411 (45.3) |
Unable to walk | 70/150 (46.7) | 97/272 (35.7) | 167/422 (39.6) |
Scoliosis | 122/150 (81.3) | 237/270 (87.8) | 359/420 (85.5) |
Constipation | 111/146 (76.0) | 221/255 (86.7) | 332/401 (82.8) |
Bloating | 85/147 (57.8) | 121/244 (49.6) | 206/391 (52.7) |
Gallbladder problems | 3/144 (2.1) | 17/233 (7.3) | 20/377 (5.3) |
Gastro-oesophageal reflux diseases | 22/144 (15.3) | - | 22/144 (15.3) |
Gastrostomy | 41/150 (27.3) | - | 41/150 (27.3) |
Altered breathing patterns | 97/146 (66.4) | - | 97/146 (66.4) |
Sleep disturbances | 92/142 (64.8) | 154/249 (61.9) | 246/391 (62.9) |