Table I.
Frequency distribution (n, %) of mutation type, age group, walking ability, and comorbidity status for individuals in the Australian Rett Syndrome Database in 2012
| Able to walk independently or with assistance | Unable to walk n=94) |
|||
|---|---|---|---|---|
| StepWatch data available (n=64) |
No StepWatch data available (n=93) |
|||
| Common mutation | C-terminal deletion | 9 (14) | 9 (10) | 8 (9) |
| Early truncating | 1 (2) | 5 (5) | 11 (12) | |
| Large deletion | 4 (6) | 2 (2) | 6 (6) | |
| p.Arg106Trp | 4 (6) | 3 (3) | 3 (3) | |
| p.Arg133Cys | 7 (11) | 10 (11) | 1 (1) | |
| p.Arg168* | 6 (9) | 4 (4) | 12 (13) | |
| p.Arg255* | – | 8 (9) | 7 (7) | |
| p.Arg270* | 2 (3) | 5 (5) | 7 (7) | |
| p.Arg294* | 6 (9) | 10 (11) | 2 (2) | |
| p.Arg306Cys | 6 (9) | 4 (4) | – | |
| p.Thr158Met | 5 (8) | 7 (8) | 9 (10) | |
| Other | 7 (11) | 10 (11) | 9 (10) | |
| Negative | 7 (11) | 16 (17) | 19 (20) | |
| Age (y) | <13 | 25 (39) | 21 (23) | 33 (35) |
| 13–18 | 11 (17) | 21 (23) | 23 (25) | |
| ≥19 | 28 (44) | 51 (55) | 38 (40) | |
| Walking ability | Unable to walk | – | – | 94 (100) |
| Assisted | 15 (23) | 27 (29) | – | |
| Independent | 49 (77) | 66 (71) | – | |
| Scoliosisa | Diagnosed | 32 (50) | 59 (63) | 80 (86) |
| Frequency of seizuresb | Never or none in the last 2 years | 33 (52) | 33 (49) | 28 (37) |
| Less than monthly or monthly | 17 (27) | 19 (28) | 21 (28) | |
| Weekly or daily | 14 (22) | 15 (22) | 26 (35) | |
a
Scoliosis data for 93 individuals who could walk independently or with assistance who did not provide StepWatch data, and for 93 individuals who were unable to walk.
b
Data for 67 individuals who could walk independently or with assistance who did not provide StepWatch data, and for 75 individuals who were unable to walk.