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Table 4 Details of symptomatic presentation of the individuals with RTT in Ireland

From: Rett syndrome in Ireland: a demographic study

Problems

Frequency (%)

Responses

Gastrointestinal issues

General gastrointestinal problems

84

N = 21

Constipation

72

N = 18

Reflux

40

N = 10

Chewing and swallowing problems

40

N = 10

PEG fed

16

N = 04

Bloating

52

N = 13

Sphincter control

36

N = 09

Communication

Verbal communication

16

N = 04

Nonverbal communication

80

N = 20

Ability to understand & interact

68

N = 17

Motor skills

Ability to sit

56

N = 14

Ability to walk

20

N = 05

Ability to stand

52

N = 13

Walking with support

52

N = 13

Epilepsy

Current medications

88

N = 22

Seizures

76

N = 19

Resistance to medications

12

N = 03

Family history of seizures

12

N = 03

Other clinical presentations

Breathing abnormalities

64

N = 16

Cold extremities

84

N = 21

Skeletal abnormalities

60

N = 15

Involuntary movements

84

N = 21

Bruxism

56

N = 14

  1. The tabular data show the frequency of issues such as gastrointestinal, motor, additional clinical presentation, communication, and epilepsy; the number of responses received for each parameter are mentioned