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Table 1 Characteristics of the children and adults with Rett syndrome

From: Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndrome

 

AussieRett

InterRett

Overall

N

148

217

365

Age, in years

   

Mean (SD)

18.1 (9.4),

20.4 (9.6),

19.5 (9.5),

Median range (IQR)

17.2 (10.5–24.3),

18.0 (13.7–25.3),

17.8 (13.0-24.7),

Range

2.9–40.1

6.2–51.9

2.9–51.9

 2–12

48 (32.4)

43 (19.8)

91 (24.9)

 13–17

30 (20.3)

65 (30.0)

95 (26.0)

 18–24

36 (24.3)

53 (24.4)

89 (24.4)

 25+

34 (23.0)

56 (25.8)

90 (24.7)

Variant, n (%)

   

 C-terminal deletion

21 (14.2)

18 (8.3)

39 (10.7)

 Early truncation

12 (8.1)

14 (6.5)

26 (7.1)

 Large deletion

14 (9.5)

14 (6.5)

28 (7.7)

 p.Arg106Trp

7 (4.7)

11 (5.1)

18 (4.9)

 p.Arg133Cys

13 (8.8)

16 (7.4)

29 (7.9)

 p.Thr158Met

13 (8.8)

21 (9.7)

34 (9.3)

 p.Arg168*

14 (9.5)

26 (12.0)

40 (11.0)

 p.Arg255*

8 (5.4)

30 (13.8)

38 (10.4)

 p.Arg270*

12 (8.1)

10 (4.6)

22 (6.0)

 p.Arg294*

7 (4.7)

14 (6.5)

21 (5.8)

 Arg306Cys

10 (6.8)

12 (5.5)

22 (6.0)

 Other

13 (8.8)

22 (10.1)

35 (9.6)

 Unknown

4 (2.7)

9 (4.1)

13 (3.6)

Walking ability, n (%)

   

 Unable

50 (33.8)

74 (34.1)

124 (34.0)

 Assisted

49 (33.1)

67 (30.9)

116 (31.8)

 Independent

48 (32.4)

74 (34.1)

122 (33.4)

 Missing

1 (0.7)

2 (0.9)

3 (0.8)

Hand function, n (%)

   

 Unable

42 (28.4)

95 (43.8)

137 (37.5)

 Large objects

24 (16.2)

57 (26.3)

81 (22.2)

 Small objects

82 (55.4)

65 (30.0)

147 (40.3)

Seizure frequency, n (%)

   

 Never or controlled

58 (39.2)

96 (44.2)

154 (42.2)

 Monthly or less

45 (30.4)

65 (30.0)

110 (30.1)

 Weekly

27 (18.2)

28 (12.9)

55 (15.1)

 Daily

18 (12.2)

27 (12.4)

45 (12.3)

 Missing

-

1 (0.5)

1 (0.3)

Constipation, n (%)

   

 No

68 (45.9)

186 (85.7)

254 (69.6)

 Yes

80 (54.1)

30 (13.8)

110 (30.1)

 Missing

-

1 (0.5)

1 (0.3)

GE-Reflux, n (%)

   

 No

118 (79.7)

98 (45.2)

216 (59.2)

 Yes

30 (20.3)

117 (53.9)

147 (40.3)

 Missing

-

2 (0.9)

2 (0.5)

Insomnia**, n (%)

   

 Normal

100 (67.6)

161 (74.2)

261 (71.5)

 Abnormal

48 (32.4)

56 (25.8)

104 (28.5)

Excessive daytime sleepiness**, n (%)

   

 Normal

99 (66.9)

180 (82.9)

279 (76.4)

 Abnormal

49 (33.1)

37 (17.1)

86 (23.6)

  1. ** DIMS and DOES (< 70 abnormal, ≥ 70 normal)
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Journal of Neurodevelopmental Disorders

ISSN: 1866-1955

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