Table 1 Frequency distribution of age, mutation type and prevalence of comorbidities by gender

Age group

 0 < 5 years

58/143 (40.6)

12/24 (50.0)

70/167 (41.9)

 5 < 10 years

49/143 (34.3)

6/24 (25.0)

55/167 (32.9)

 10 years or older

36/143 (25.2)

6/24 (25.0)

42/167 (25.2)

Mutation group

 No functional protein

41/141 (29.1)

10/23 (43.5)

51/164 (31.1)

 Missense/in-frame mutation within catalytic domain

39/141 (27.7)

6/23 (26.1)

45/164 (27.4)

 Truncation between aa172 and aa781

37/141 (26.2)

1/23 (4.4)

38/164 (23.2)

 Truncation after aa781

15/141 (10.6)

2/23 (8.7)

17/164 (10.4)

 Mutation not grouped

9/141 (6.4)

4/23 (17.4)

13/164 (7.9)

Epilepsy ever

128/130 (98.5)

17/18 (94.4)

145/148 (98.0)

GI health

 Any GI problem ever

106/123 (86.2)

16/18 (88.9)

122/141 (86.5)

 Constipation ever

85/123 (69.1)

15/18 (83.3)

100/141 (70.9)

 Reflux ever

72/111 (64.9)

10/17 (58.8)

82/128 (64.1)

 Air swallowing ever

32/116 (27.6)

4/17 (23.5)

36/133 (27.1)

 Gastrostomy ever

31/127 (24.4)

11/19 (57.9)

42/146 (28.8)

Sleep^a

 Any sleep problem ever

106/124 (85.5)

16/17 (94.1)

122/141 (86.5)

 Night waking

63/106 (59.4)

9/17 (52.9)

72/123 (58.5)

 Diurnal problems^b

51/108 (47.2)

8/18 (44.4)

59/126 (46.8)

 Teeth grinding

41/108 (38.0)

9/18 (50.0)

50/126 (39.7)

 Night screaming

25/109 (22.9)

4/18 (22.2)

29/127 (22.8)

 Night laughing

28/109 (25.7)

6/18 (33.3)

34/127 (26.8)

 Repetitive actions while falling asleep

29/107 (27.1)

4/18 (22.2)

33/125 (26.4)

Respiratory

 Any breathing irregularities

33/110 (30.0)

8/16 (50.0)

41/126 (32.5)

 Hyperventilation

15/109 (13.8)

2/16 (12.5)

17/125 (13.6)

 Breath-holding

26/109 (23.9)

7/16 (43.8)

33/125 (26.4)

 Pneumonia ever

18/109 (16.5)

9/17 (52.9)

27/126 (21.4)

 Aspiration

19/107 (17.8)

9/17 (52.9)

28/124 (22.6)

Scoliosis

23/122 (18.9)

5/16 (31.3)

28/138 (20.3)