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Table 5 Frequency of RTT characteristics in the Irish population compared to populations in other countries

From: Rett syndrome in Ireland: a demographic study

Characteristic

Percentage of individuals with characteristic

 

US

IT

DK

NL

SE

AU

UK

BR

PL

INTL

IE

Regression

90

76

95.6

80

96 Δ

Behavioural regression

77

68

Speech regression

87

50

23

84

Motor regression

55

84 Δ

Regression of hand use

41

41

88 Δ

Stereotypies

86

98*

96

92

99**

70

69

84

GI problems

92

89

83

82

81

40

84

Verbal communication

16

13

5

21

16

Non-verbal communication

76

86

65

39

79

70

80

Eye communication

85

92

91

89

85

Ability to sit

37

85**

59

56

Ability to walk

20

44*

33

80**

56**

66**

22

44*

20

Ability to stand

46

28

52 Δ

Walking with support

41

41

43

64

11

52

Seizures

81

82

80

61

81

63

69

43

65

76

Resistance to anti-epileptics

36*

46**

18

36*

25

12

Breathing abnormalities

70

75

81*

85*

66

87*

51

64

Bloating

53

52

Cold extremities

87

56

93

50

84

Sphincter control

30

89

36

Skeletal abnormalities

27

56

83*

70

74

66

67

59

13

50

60

Involuntary movements

40

84 Δ

Bruxism

22

61

56

Anxiety

14

79

74

71

Self-injury

62**

57**

21

Trouble night sleep

77

16

63

46

47

63

Sadness

12

75 Δ

  1. The tabular representation of RTT characteristics in the study cohort in Ireland and other international cohorts, from the USA, Italy, Denmark, the Netherlands, Sweden, Australia, the UK, Brazil, Poland, and an international cohort. The numbers in the figure are accompanied by asterisks to indicate the level of significance of the differences from Ireland (IE). A single asterisk (*) indicates a significant difference from Ireland for the indicated distinctive symptom. The double asterisks (**) indicate a higher level of significance, determined following p-value adjustment for multiple testing. The numbers shown in bold indicate a higher and lower frequency of occurrence reported in Ireland when compared to reported data from other countries. This table provides a visual representation of the differences in the frequency of occurrence of distinctive symptoms between the cohort in Ireland and highlights the significant differences and extreme end frequencies. Instances where the frequency of findings in Ireland is the highest among all other countries are denoted by the symbol "Δ", and when the frequency of findings in Ireland is the lowest, it is denoted by the symbol “