Table 1 Demographic and clinical features of patients with Rett Syndrome.
From: Correlation of dystonia severity and iron accumulation in Rett syndrome
No | Age | Gene mutation | Speech | RSGMS | HF | RSSS level (score) | RSBQ | Fahn–Marsden scale | UDRS | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Sitting | Standing | Walking | Challenge | ||||||||||
1 | 4.2 | MECP2 c.880C>T, p.R294X | − | + | + | + | + | 2 | Moderate (9) | 45 | 28 | 37.5 | |
2 | 6.0 | MECP2 c.392 C>A | + | + | + | + | + | 8 | Mild (7) | 30 | 28 | 42.5 | |
3 | 6.2 | MECP2 c.392 C>A | + | + | + | + | + | 8 | Mild (3) | 29 | 24.5 | 37.5 | |
4 | 7.2 | MECP2 c.502 C>T p.R168X | − | + | + | + | − | 3 | Mild (6) | 20 | 26.5 | 33.5 | |
5 | 8.1 | MECP2 c.502 C>T p.R168X | − | + | + | + | − | 1 | Moderate (13) | 38 | 30.5 | 65.5 | |
6 | 8.9 | MECP2 c.808 C>T p.R270X | − | − | − | − | − | 2 | Severe (16) | 44 | 53.5 | 54.5 | |
7 | 9.1 | MECP2 c.502 C>T p.R168X | − | + | − | − | − | 1 | Moderate (10) | 51 | 30.5 | 52.5 | |
8 | 14.3 | MECP2 c.1161 C>A | − | + | − | − | − | 1 | Moderate (13) | 34 | 82.5 | 72 | |
9 | 14.2 | MECP2 c.502 C>T p.R168X | − | + | + | + | − | 1 | Mild (6) | 31 | 53 | 66.5 | |
10 | 15.6 | MECP2 c.446C>A p.S149Y | − | + | + | + | − | 7 | Moderate (8) | 20 | 13 | 33.5 | |
11 | 18.0 | MECP2 856-859del4 AAAG del, frameshift (K286fs ) | − | + | − | − | − | 5 | Severe (18) | 56 | 86.5 | 75 | |
12 | 20.8 | MECP2 frameshift insertion 38_39insTCCT (G13fs) | − | + | + | + | − | 2 | Moderate 10) | 70 | 65 | 66 | |
13 | 22.8 | MECP2 c.763C>T p.R255X | + | + | + | + | − | 7 | Moderate (10) | 49 | 38.5 | 56 | |
14 | 25.3 | MECP2 c.763C>T p.R255X | − | − | − | − | − | 1 | Moderate (11) | 56 | 72.5 | 60.5 | |
15 | 25.9 | MECP2 c. 502 C>t, p.R168X | − | + | + | + | − | 2 | Moderate (12) | 39 | 59 | 71 | |
16 | 26.9 | MECP2 mutation (losing data) | − | + | + | + | − | 1 | Moderate (12) | 63 | 73 | 84.5 | |
17 | 28.1 | MECP2 c.763C>T p.R255X | − | + | + | + | − | 1 | Moderate (11) | 38 | 63 | 73 | |
Age < 10 | 2(29%) | 6(86%) | 5(71%) | 5(71%) | 3(43%) | ||||||||
Age > 10 | 1(10%) | 9(90%) | 7(70%) | 7(70%) | 0 | ||||||||
Age < 10 | Mean (SD) | 3.57 (2.52) | 9.14 (4.37) | 36.71 (10.88) | 31.64 (9.86) | 46.21 (11.60) | |||||||
Age > 10 | Mean (SD) | 2.8 (2.53) | 11.1 (3.17) | 45.6 (15.74) | 60.60 (21.82) | 65.80 (13.82) | |||||||
p value | 0.232 | 0.315 | 0.230 | 0.010* | 0.007** | ||||||||
