Table 1 Composition of the studied cohort, which consists of individuals with Rett syndrome (RTT) with mutations in MECP2, MECP2 duplication syndrome (MDS) and Rett-like (RTT-like) with mutations in different genes that are not MECP2 and healthy controls. ‘Age’ and ‘Duration of disease’ are given in years; Mean ± Standard Deviation with available data (Additional file 5: Table S2)
Individuals | Age | Duration of disease | Female | Male | Total |
|---|---|---|---|---|---|
RTT | 9 ± 6 | 12 ± 2 | 21 | 1 | 22 |
MDS | 7 ± 6 | 6 ± 6 | – | 15 | 15 |
RTT-like | 12 ± 7 | 11 ± 7 | 8 | 4 | 12 |
CDKL5 | 9.5 ± 10 | 9 ± 10.5 | 1 | 3 | 4 |
FOXG1 | 9.5 ± 3.5 | 9 ± 3.5 | 1 | 1 | 2 |
NR2F1 | 9 | 8.7 | 1 | – | 1 |
GRIN2B | 9 | 8.7 | 1 | – | 1 |
AHDC1 | 13 | 11 | 1 | – | 1 |
Unknown mutation | 18 ± 5 | 17 ± 5 | 3 | – | 3 |
Healthy controls | 18 ± 14 | – | 7 | 6 | 13 |