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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).