Table 7.
Proportions of cases with specific characteristics of Rett syndrome compared to other specific MECP2 mutations
| Characteristic | Proportion of C-terminal deletion cases with characteristic | Proportion of p.R133C cases with characteristic | p Value of χ2 test | Proportion of p.R270X cases with characteristic | p Value of χ2 test | Proportion of large deletion cases with characteristic | p Value of χ2 test |
|---|---|---|---|---|---|---|---|
| Ever walked | 62 (79.49%) | 55 (98.21%) | 0.001 | 31 (48.44%) | <0.001 | 20 (46.51%) | <0.001 |
| Currently walking | 37 (49.33%) | 41 (74.55%) | 0.004 | 18 (29.51%) | 0.019 | 11 (26.19%) | 0.015 |
| Ever talked | 40 (51.95%) | 37 (67.27%) | 0.078 | 24 (39.34%) | 0.14 | 17 (39.53%) | 0.192 |
| Currently talking | 1 (1.3%) | 9 (16.36%) | 0.001 | 0 (0%) | 0.372 | 0 (0%) | 0.453 |
| Ever had hand use | 71 (94.67%) | 55 (98.21%) | 0.294 | 55 (90.16%) | 0.317 | 39 (88.64%) | 0.23 |
| Maintained hand use | 22 (30.99%) | 23 (41.82%) | 0.208 | 8 (14.81%) | 0.036 | 6 (15.38%) | 0.072 |
| Air swallowing | 23 (32.39%) | 18 (34.62%) | 0.796 | 23 (40.35%) | 0.351 | 15 (34.88%) | 0.785 |
| Current HC z-score ≥0 | 11 (21.57%) | 5 (13.89%) | 0.362 | 3 (7.32%) | 0.059 | 2 (6.25%) | 0.062 |
| Current weight z-score ≥0 | 18 (43.90%) | 8 (28.57%) | 0.197 | 6 (17.65%) | 0.015 | 6 (19.35%) | 0.029 |
| Kyphosis | 11 (18.64%) | 5 (11.36%) | 0.313 | 3 (6.67%) | 0.076 | 1 (2.86%) | 0.027 |
| Abnormal muscle tone | 16 (57.14%) | 14 (66.67%) | 0.498 | 17 (85.00%) | 0.04 | 13 (86.67%) | 0.049 |