Table 4.
Median and range Rett Syndrome Gross Motor Scale (RSGMS) scores and blood brain derived neurotrophic factor (BDNF) levels at each assessment by BDNF gene polymorphism (Val/Val, Val/Met, Met/Met)
| Baseline period | Intervention period | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Assessment 1 | Assessment 2 | Assessment 3 | Assessment 4 | Assessment 5 | ||||||
| RSGMS | ||||||||||
| N | Median (range) | N | Median (range) | N | Median (range) | N | Median (range) | N | Median (range) | |
| Val/Val | 3 | 31 (30–34) |
3 | 32 (30–33) |
3 | 32 (30–35) |
3 | 34 (32–37) |
3 | 39 (30–39) |
| Val/Met | 7 | 16 (4–29) |
7 | 16 (0–29) |
7 | 23 (9–33) |
7 | 24 (13–34) |
7 | 26 (13–38) |
| Met/Met | 2 | 28.5 (27–30) |
2 | 28.5 (27–30) |
2 | 31.5 (30–33) |
2 | 33.5 (33–34) |
2 | 37.5 (36–39) |
| Blood BDNF | ||||||||||
| Val/Val | 3 | 173.8 (152.1–177.9) |
3 | 166.6 (126.7–214.2) |
– | – | – | – | 3 | 493.1 (436.3–689.0) |
| Val/Met | 6a | 156.3 (117.5–232.6) |
7 | 129.5 (69.8–211.4) |
– | – | – | – | 6a | 446.1 (387.1–619.6) |
| Met/Met | 2 | 172.39 (166.9–177.9) |
2 | 147.5 (82.1–212.9) |
– | – | – | – | 1a | 566.7 (566.7–566.7) |
aMissing blood sample at assessment 1 due to technical difficulties and missing blood samples at assessment 5 due to ill health