Table 5. Clinical and Genetic characteristics of InterRett Subjects compared with the ARSD.
| ARSD | InterRett (complete) |
InterRett (≥1976) |
||
|---|---|---|---|---|
| Clinical severity | n | 164 | 372 | 354 |
| Median | 16 | 15 | 15 | |
| p value | 0.039a | 0.043a | ||
| MECP2 Genetic test performed | n | 290 | 982 | 915 |
| Yes (%) | 90.3 | 91.2 | 91.4 | |
| No (%) | 9.7 | 8.8 | 8.6 | |
| Overall χ2 p value | 0.638a | 0.594a | ||
| Results of MECP2 test | n | 260 | 922 | 723 |
| Negative (%) | 21.2 | 22.9 | 23.6 | |
| Positive (%) | 78.8 | 77.1 | 76.4 | |
| Overall χ2 p value | 0.560a | 0.412a | ||
| Types of MECP2 mutations present | n | 205 | 596 | 552 |
| R106W (%) | 3.9 | 3.5 | 3.4 | |
| R133C (%) | 7.8 | 6.4 | 6.3 | |
| R168X (%) | 11.2 | 10.1 | 10.5 | |
| R255X (%) | 7.3 | 11.1 | 11.8 | |
| T158M (%) | 10.7 | 12.4 | 12.3 | |
| R306C (%) | 6.8 | 7.1 | 6.2 | |
| R294X (%) | 8.8 | 5.7 | 5.6 | |
| R270X (%) | 8.8 | 7.7 | 8.0 | |
| Large Del (%) | 6.3 | 3.4 | 3.6 | |
| Other (%) | 29.3 | 32.7 | 32.3 | |
| Overall χ2 p value | 0.358a | 0.385a | ||
a
when compared to the ARSD