Table 1.
Results of cognitive and clinical assessment in girls with RTT by disease stage
| All RTT | AR | PR | |
|---|---|---|---|
| Mullen Scales of Early Learning | n = 49 | n = 18 | n = 27 |
| Visual reception | 0.36 (0.46) | 0.62 (0.36) | 0.24 (0.19) |
| Receptive language | 0.17 (0.13) | 0.23 (0.10) | 0.11 (0.09) |
| Expressive language | 0.41 (0.55) | 0.77 (0.46) | 0.26 (0.29) |
| Fine motor | 0.13 (0.18) | 0.25 (0.29) | 0.09 (0.11) |
| Clinical severity score | n = 47 | n = 20 | n = 27 |
| Severity score | 20 (8) | 21 (7) | 19 (7.5) |
| Anxiety, Depression, and Mood Scale | n = 46 | n = 17 | n = 26 |
| Manic/hypermanic behavior | 6.5 (5) | 8 (4) | 6.5 (4) |
| Depressed mood* | 3 (4.5) | 3 (5.25) | 3 (3.5) |
| Social avoidance | 4 (4) | 4 (3) | 6 (3.75) |
| General anxiety | 5 (3.75) | 4 (4) | 6 (2.75) |
| Obsessive behavior | 3 (2.75) | 3 (2) | 4 (2.75) |
*RTT n = 39, PR n = 23
Data are presented as median (interquartile range). MSEL values are presented as developmental quotients, while CSS and ADAMS data are presented as raw scoresMedian (and interquartile range) developmental quotients based on performance on MSEL domains as well as scores on the ADAMS subscales and clinical severity scores (CSS) are reported for all participants with RTT with usable EEG data at the initial study visit. Values for participants in active regression and that are postregression are also reported. Developmental quotients were calculated by dividing the “developmental age” in a given domain as predicted by performance on the MSEL by the participant’s actual age (in months)