Skip to main content

Table 2 Number (%) for each mutation type and medical condition in the health status analyses (n = 423)

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)
  1. aAustralian Rett Syndrome Study; bthe denominator is different for each medical condition because of some families did not compete all questionnaire sections; c*stop codon; dnegative or unknown mutation (n = 39); enegative or unknown mutation (n = 151).