Table 3 Demographics and relevant features of RTT patients well tolerating MTZ treatment vs patients exhibiting drug intolerance
From: Protective role of mirtazapine in adult female Mecp2+/− mice and patients with Rett syndrome
Variable | Tolerated MTZ | Not tolerated MTZ | p value |
|---|---|---|---|
N | 36 | 4 | |
Age (years) | 23.8 ± 8.1 | 24.7 ± 7.4 | 0.829 |
Clinical phenotype | 0.553 | ||
Typical | 33 (91.7%) | 4 (100%) | |
Preserved speech variant (PSV) | 3 (8.3%) | 0 | |
MECP2 mutation category | 0.514 | ||
Missense | 12 (33.3%) | 1 (25%) | |
Early truncating | 14 (38.9%) | 3 (75%) | |
Late truncating | 9 (25%) | 0 | |
Gene deletions | 1 (2.8%) | 0 | |
MECP2 hotspot mutations | 0.269 | ||
R133C | 2 (5.6%) | 0 | |
R168X | 3 (8.3%) | 0 | |
R255X | 4 (11.1%) | 0 | |
R270X | 1 (2.8%) | 0 | |
R294X | 2 (5.6%) | 2 (50%) | |
R306C | 2 (5.6%) | 0 | |
T158M | 3 (8.3%) | 0 | |
R106W | 0 | 0 | |
Other | 19 (52.8%) | 2 (50%) | |
Rett syndrome clinical severity scale (RCSS) | 22.9 ± 6.7 | 19.6 ± 2.5 | 0.284 |
Motor behavioral assessment scoring scale (MBAS) | 54.7 ± 7.1 | 51.5 ± 2.4 | 0.380 |
I Social-behavioral domain | 24.6 ± 7.5 | 20.5 ± 1.3 | 0.287 |
II Orofacial/respiratory domain | 15.0 ± 3.7 | 11.7 ± 1.3 | 0.091 |
III Motor and clinical features domain | 20.1 ± 2.8 | 19.2 ± 1.9 | 0.550 |
MTZ daily dose (mg/day) | 10.9 ± 6.5 | 13.1 ± 3.7 | 0.519 |
MTZ per kg daily dose (mg/kg bw/day) | 0.291 ± 0.189 | 0.297 ± 0.105 | 0.950 |
MTZ treatment duration (years) | 1.4 [1.1–2.0] | 0.3 [0.08–1.2] | 0.031 |