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Table 2 Prevalence of current autonomic disturbances by age group and mutation type

From: Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study

 

Breath-holding

Hyperventilation

Both breath-holding and hyperventilation

Abdominal bloating

 

n/N (%)

n/N (%)

n/N (%)

n/N (%)

Overall

260/378 (68.8)

179/386 (46.4)

158/384 (41.2)

173/408 (42.4)

Age group

 0–6 years

32/49 (65.3)

29/48 (60.4)

27/48 (56.3)

20/51 (39.2)

 7–12 years

99/130 (76.2)

59/130 (45.4)

59/130 (45.4)

48/131 (36.6)

 13–19 years

76/113 (67.3)

48/114 (42.1)

38/114 (33.3)

49/121 (40.5)

 20 years and above

53/86 (61.6)

43/94 (45.7)

34/92 (37.0)

56/105 (53.3)

Mutation type

 C-terminal deletion

28/41 (68.3)

17/42 (40.5)

14/42 (33.3)

16/44 (36.4)

 Early truncating

23/28 (82.1)

13/27 (48.2)

13/27 (48.2)

14/28 (50.0)

 Large deletion

21/26 (80.8)

12/26 (46.2)

12/26 (46.2)

12/28 (42.9)

 p.Arg106Trp

10/15 (66.7)

7/15 (46.7)

4/15 (26.7)

6/15 (40.0)

 p.Arg133Cys

19/29 (65.5)

15/30 (50.0)

13/30 (43.3)

12/30 (40.0)

 p.Arg168*

26/40 (65.0)

19/43 (44.2)

16/42 (38.1)

22/44 (50.0)

 p.Arg255*

32/44 (72.7)

22/44 (50.0)

21/44 (47.7)

18/46 (39.1)

 p.Arg270*

17/24 (70.8)

11/24 (45.8)

10/24 (41.7)

10/25 (40.0)

 p.Arg294*

18/27 (66.7)

12/27 (44.4)

11/27 (40.7)

10/29 (34.5)

 p.Arg306Cys

18/26 (69.2)

15/26 (57.7)

13/25 (52.0)

11/27 (40.7)

 p.Thr158Met

24/34 (70.6)

18/36 (50.0)

17/36 (47.2)

23/43 (53.5)

 Other

24/44 (54.6)

18/46 (39.1)

14/46 (30.4)

19/49 (38.4)