Table 2.
Patient characteristics as described by caregivers (for pediatric patients) or by adult patient themselves and caregiver characteristics
| Patient characteristics | Adult patient survey (N = 84) |
Caregiver survey (proxy-reported) (N = 83) |
|---|---|---|
| Age (years), mean (SD) | 33.9 (11.5) | 8.4 (3.4) |
| Age at diagnosis (years), mean (SD) | 3.27 (6.32) | 0.95 (0.35) |
| Age at first symptoms (years), mean (SD) | 1.43 (1.34) | 0.78 (0.35) |
| Gender (male), n (%) | 23 (27) | 75 (90) |
| Reported SMA type, n (%) | ||
| Type 2 | 61 (73) | 76 (92) |
| Type 3 | 23 (27) | 7 (8) |
| Motor function, n (%) | ||
| Cannot sit | 5 (6) | 0 (0) |
| Can sit with some support | 36 (43) | 3 (4) |
| Cannot sit independently for few seconds | 16 (19) | 0 (0) |
| Can sit independently for longer | 18 (21) | 67 (81) |
| Can stand with assistance | 6 (7) | 13 (16) |
| Can walk with assistance | 3 (4) | 0 (0) |
| Can walk independently for a few steps | 0 (0) | 0 (0) |
| Breathing function, n (%) | ||
| Mechanical support >16 h/day | 1 (1) | 0 (0) |
| Mechanical support for some of the day | 22 (26) | 43 (52) |
| No mechanical support | 61 (73) | 40 (48) |
| SMA treatment, n (%) | ||
| Nusinersen (SPINRAZA®) | 1 (1) | 54 (65) |
| Surgery | 17 (20) | 2 (2) |
| Other | 13 (15) | 1 (1) |
| None | 58 (69) | 29 (34) |
| Tools/equipment, n (%) | ||
| Breathing machine/mechanical. ventilation | 30 (36) | 45 (54) |
| Feeding tube | 9 (11) | 0 (0) |
| Suction machine to help clear throat | 10 (12) | 79 (95) |
| Walking frame | 1 (1) | 39 (47) |
| Wheelchair | 84 (100) | 81 (98) |
| Other | 22 (26) | 1 (1) |
| Comorbidities (multicode), n (%) | ||
| Any | 19 (22) | 0 (0) |
| Musculoskeletal comorbidities | 10 (12) | – |
| Other comorbidities | 12 (14) | – |
| Caregiver EQ-5D-5L, mean (SD) | ||
| Can sit with some support (n = 3) | 0.862 (0.127) | |
| Can sit independently for longer (n = 67) | 0.939 (0.092) | |
| Can stand with assistance (n = 13) | 0.964 (0.074) | |
SMA spinal muscular atrophy