Table 1 Characteristics of the 413 individuals with Rett syndrome
Variables | n (%) | |
|---|---|---|
Gender | Female | 411 (99.5) |
| Â | Male | 2 (0.5) |
Respondent | Natural parents | 402 (97.3) |
| Â | Foster parents | 6 (1.5) |
| Â | Other family members | 5 (1.2) |
Place of residence (n = 412) | Parental home(s) | 386 (93.7) |
| Â | Group home or community residential unit | 20 (4.9) |
| Â | Hospital or nursing home | 1 (0.2) |
| Â | Other | 5 (1.2) |
Country of residence | USA | 337 (81.6) |
| Â | Canada | 32 (7.8) |
| Â | UK | 29 (7.0) |
| Â | Australia | 11(2.7) |
| Â | China | 2 (0.5) |
| Â | Ireland | 1 (0.2) |
| Â | Switzerland | 1 (0.2) |
Age distribution | 0–6 years | 51 (12.4) |
|  | 7–12 years | 133 (32.2) |
|  | 13–19 years | 122 (29.6) |
| Â | 20Â years and over | 107 (25.9) |
Mutation type | C-terminal deletion | 44 (10.7) |
| Â | Early truncating | 28 (6.8) |
| Â | Large deletion | 28 (6.8) |
| Â | p.Arg106Trp | 16 (3.9) |
| Â | p.Arg133Cys | 30 (7.3) |
| Â | p.Arg168* | 45 (10.9) |
| Â | p.Arg255* | 46 (11.1) |
| Â | p.Arg270* | 25 (6.1) |
| Â | p.Arg294* | 30 (7.3) |
| Â | p.Arg306Cys | 27 (6.5) |
| Â | p.Thr158Met | 44 (10.7) |
| Â | Other | 50 (12.1) |
Current walking ability | Unable to walk | 132 (32.0) |
| Â | Walks with assistance | 119 (28.8) |
| Â | Walks with no assistance | 162 (39.2) |
Diagnosed with epilepsy (n = 411) | Yes | 281 (68.4) |
| Â | No | 130 (31.6) |
Current seizure frequency (n = 279) | Not controlled (daily/more than once a week) | 53 (19.0) |
| Â | Frequent (once per week) | 61 (21.9) |
| Â | Occasional (once per month) | 60 (21.5) |
| Â | Rare (once or twice per year) | 41 (14.7) |
| Â | Completely under control | 64 (22.9) |
Diagnosed with scoliosis (n = 409) | Yes | 280 (68.5) |
| Â | No | 129 (31.5) |