Table 2.
Child Clinical Characteristics
| All (n=198) | Responder (n=70) | Non- Responder (n=128) | p-value | |
|---|---|---|---|---|
|
| ||||
| Clinical Rett Syndrome, n (%) | ||||
| Yes | 187 (95.0) | 67 (95.7) | 120 (94.5) | 0.254* |
| No | 10 (5.1) | 3 (4.3) | 7 (5.5) | |
|
| ||||
| Mutation, n (%) | ||||
| No Mutation | 14 (7.2) | 3 (4) | 11 (9) | |
| Mutation Group 1 | ||||
| R133C | 11 (5.6) | 5 (7) | 6 (5) | |
| R294X | 10 (5.1) | 8 (11) | 2 (2) | |
| R306C | 15 (7.7) | 7 (10) | 8 (6) | |
| 3' Truncation | 9 (4.6) | 4 (6) | 5 (4) | |
| Mutation Group 2 | ||||
| R106W | 7 (3.6) | 3 (4) | 4 (3) | - |
| T158M | 26 (13.3) | 8 (11) | 18 (14) | |
| Mutation Group 3 | ||||
| R168X | 22 (11.3) | 4 (6) | 18 (14) | |
| R255X | 21 (10.8) | 9 (13) | 12 (10) | |
| R270X | 10 (5.1) | 2 (3) | 8 (6) | |
| Large Deletion | 11 (5.6) | 3 (4) | 8 (6) | |
| Mutation Group 4: “Others” | ||||
| Insertion | 2 (1.0) | 0 (0) | 2 (2) | |
| Insertion/Deletion | 2 (1.0) | 2 (2) | 0 (0) | |
| Other Point Mutation | 33 (17.0) | 12 (17) | 21 (17) | |
| Duplication | 2 (1.0) | 0 (0) | 2 (2) | |
|
| ||||
| Average BMI, mean (SD) | 18.2 (4.3) | 19.6 (5.4) | 17.4 (3.3) | 0.004 ¥ |
|
| ||||
| Average Child Age, mean (SD) | 13.7 (9.3) | 16.4 (10.5) | 12.3 (8.3) | 0.015# |
|
| ||||
| Average Age at Diagnosis, mean (SD) | 3.5 (3.6) | 4.6 (5.3) | 2.9 (2.0) | 0.009 ¥ |
|
| ||||
| CSS, mean (SD) | 22.9 (7.6) | 22.1 (7.8) | 23.4 (23.4) | 0.261 ¥ |
|
| ||||
| MBA (Behavioral/Social) , mean (SD) | 20.4 (7.9) | 19.8 (7.1) | 20.8 (8.3) | 0.391 ¥ |
|
| ||||
| MBA(Motor Assessment Physical), mean (SD) | 17.2 (6.3) | 17.1 (6.9) | 17.2 (5.9) | 0.900 ¥ |
|
| ||||
| MBA (Orofacial/Respirator), mean (SD) | 6.9 (2.5) | 7.3 (2.5) | 6.7 (2.5) | 0.123 ¥ |
|
| ||||
| MBA Total, mean (SD) | 44.5 (13.1) | 44.2 (12.9) | 44.7 (13.3) | 0.804 ¥ |
^
= Pearson Chi square test;
*
= Fisher’s exact test;
¥
= T-test;
#
=Wilcoxon two-sample test