Table 1:
Participant characteristics for the confirmatory factor analysis (CFA; n=152) and reliability (test-retest; n=56) studies
| Confirmatory Factor Analysis Sample n (%) | Reliability Sample n (%) | |
|---|---|---|
| Mutation Group | ||
| No functional protein | 40 (26.32) | 14 (25) |
| Missense/in-frame within the catalytic domain | 43 (28.29) | 19 (33.93) |
| Truncations between aa172 and aa781 | 40 (26.32) | 13 (23.21) |
| Truncation after aa781 | 21 (13.82) | 6 (10.71) |
| Not grouped | 8 (5.26) | 4 (7.14) |
| Country of residence | ||
| Australia or New Zealand | 15 (9.87) | 5 (8.93) |
| Europe | 29 (19.08) | 4 (7.14) |
| North America | 89 (58.55) | 44 (78.57) |
| UK | 10 (6.58) | 2 (3.57) |
| Other* | 9 (5.92) | 1 (1.79) |
| Gender | ||
| Male | 27 (17.76) | 11 (19.64) |
| Female | 125 (82.24) | 45 (80.36) |
| Age | ||
| 3-11 | 93 (61.18) | 30 (53.57) |
| 12+ | 59 (38.82) | 26 (46.43) |
| Walking ability | ||
| Unable | 101 (66.45) | 33 (58.93) |
| Moderate assistance | 9 (5.92) | 6 (10.71) |
| Minimal assistance | 6 (3.95) | 1 (1.79) |
| No assistance | 36 (23.68) | 16 (28.57) |
| Communication | ||
| Simple/no communication | 32 (21.05) | 10 (17.86) |
| Gestures, signs or vocalisations | 93 (61.18) | 36 (64.29) |
| Words | 27 (17.76) | 10 (17.86) |
| QI-Disabilitya | Confirmatory Factor Analysis Sample | ||
|---|---|---|---|
| Mean (SD) | Median (min,max) | Skew | |
| Physical Health | 74.4 (17.3) | 75 (8.3,100) | −0.76 |
| Positive Emotions | 64.5 (23.2) | 68.8 (0,100) | −0.41 |
| Negative Emotions | 73.9 (17.4) | 75 (25,100) | −0.95 |
| Social Interactions | 50.0 (27.3) | 50 (0,100) | 0 |
| Leisure and the Outdoors | 60.9 (27.1) | 70 (0,100) | −0.50 |
| Independence | 29.9 (24.6) | 25 (0,95) | 0.66 |
| Total Score | 58.9 (16.1) | 58.3 (19.6,96.8) | −0.11 |
a
Total possible scores out of 100
*
Includes Brazil, India, Russia, Saudi Arabia, Turkey, United Arab Emirates