Table 1. Demographic and clinical characteristics of individuals with Rett syndrome (RTT) and unaffected Controls (C).
| Characteristics of subjects | Group of Individuals* | p-value+ | |
|---|---|---|---|
| RTT | C | ||
| Demographics | |||
| Number of participants | 44 | 21 | - |
| Age (y) | 12.4 (5.1, 36.1) | 10.3 (4.9, 27.8) | NS |
| Race (W:H:B:A:O) (%)** | 57:27:11:2:2 | 52:24:14:0:10 | NS |
| Pubertal Status | |||
| Menarche achieved (%) | 50 | 33 | NS |
| Pre-pubertal: Post-pubertal (%) | 20:80 | 52:48 | 0.01 |
| MeCP2 Mutation | |||
| Participants (n) | 43 | - | - |
| Mutation severity# (mild:moderate:severe) % | 33:44:23 | - | - |
| Growth measurements | |||
| Height (z-score) | -2.5 (-5.7, 1.8) | 0 (-2.5, 3.3) | 0.001 |
| Weight (z-score) | -1.9 (-10.4, 0.7) | 0.4 (-3.2, 2.5) | 0.001 |
| Body mass index (z-score) | -0.5 (-8.7, 1.5) | 0.4 (-3.2, 2.2) | 0.01 |
| Body fat (%) | 26 (17, 37) | 26 (15, 39) | NS |
| Triceps skinfold (mm) | 11 (5, 33) | 14 (5, 31) | 0.04 |
| Arm muscle area (mm2) | 2332 (1418, 5314) | 2704 (1282, 4730) | NS |
| Symptoms | |||
| Anxiety (%) | 52 | 14 | 0.01 |
| Salivary cortisol (n) | 42 | 20 | - |
| Cortisol (μg/dL) | 0.12 (0.03, 1.37) | 0.08 (0.02, 0.23) | 0.01 |
| Bruxism (%) | 68 | 5 | 0.001 |
| Hyperventilation (%) | 68 | 0 | 0.001 |
| Abdominal distention (%) | 50 | 0 | 0.001 |
| Seizures (%) | 64 | 0 | 0.001 |
| Bowel Movement | |||
| Frequency < 1/day (%) | 41 | 25 | NS |
| Stool consistency | 0.001 | ||
| Loose (diarrhea) | 27 (61%) | 3 (14%) | - |
| Normal | 10 (23%) | 16 (76%) | - |
| Formed (constipated) | 7 (16%) | 1 (5%) | - |
| Data not available | - | 1 (5%) | - |
| Ambulatory Status | |||
| Non-ambulatory (%) | 39 | 0 | 0.001 |
| Clinical Severity Score (CSS) | |||
| Participants (n) | 40 | - | - |
| CSS value | 25 ± 7 | - | - |
| CSS## (mild:moderate:severe) % | 30:45:25 | - | - |
| Medications | |||
| Proton pump inhibitors (%) | 61 | 0 | 0.001 |
| Prokinetics (%) | 18 | 0 | 0.05 |
| Probiotics (%) | 23 | 0 | 0.01 |
| Laxatives (%) | 70 | 0 | 0.001 |
| Anticonvulsants (%) | 59 | 0 | 0.001 |
| Vagal nerve stimulation therapy (%) | 16 | 0 | 0.01 |
| Gastrointestinal Health Questionnaire (score) | |||
| Health/Pain | 13 (0, 43) | 0 (0, 5) | 0.001 |
| Eating/Chewing/Swallowing | 24 (1, 48) | 0 (0, 7) | 0.001 |
| Gastrointestinal | 23 (0, 52) | 0 (0, 13) | 0.001 |
| Mood/Personality | 10 (0, 40) | 0 (0, 8) | 0.001 |
| Parental Concerns | 10 (0, 51) | 0 (0, 5) | 0.001 |
| Total | 71 (14, 231) | 1 (0, 7) | 0.001 |
*Values expressed as median (minimum, maximum) or proportion (%).
**W = White (Caucasian), H = Hispanic, B = Black (African American), A = Asian, O = Other (Pacific Islander).
#MeCP2 mutation severity: Mild = R133C, R294X, R306C, 3’ truncations; Moderate = T158M, all others except mild/severe; Severe = R106W, R255X, R270X, large deletions.
##Clinical severity score (CSS): Mild = ≤ 19, Moderate = 20–30, Severe = ≥31.
+ Mann-Whitney test (continuous variables) and Chi-squared test (discrete variables), p-value ≤ 0.05 considered significant.