TABLE 1.
Characteristics of participants (n = 1,466): respondent, age of patient, number of persons in household, and health‐care access
| Variable | Region of Brazil | Total n = 1,466 | ||||
|---|---|---|---|---|---|---|
| North n = 59 (4.0%) | Northeast n = 229 (15.6%) | Center‐West n = 134 (9.1%) | South n = 382 (26.1%) | Southeast n = 662 (45.2%) | ||
| Participant (n) | ||||||
| Patient | 16 (27.1%) | 82 (35.8%) | 39 (29.1%) | 126 (33.0%) | 230 (34.7) | 493 (33.6%) |
| Caregiver | 43 (72.9%) | 147 (64.2%) | 95 (70.9%) | 256 (67.0%) | 432 (65.3%) | 973 (66.4%) |
| Age of patient (years) | ||||||
| <18 | 38 (64.4%) | 115 (50.2%) | 78 (58.2%) | 213 (55.7%) | 337 (50.9%) | 781 (53.3%) |
| 18–64 | 21 (35.6%) | 113 (49.4%) | 53 (39.6%) | 163 (42.7%) | 317 (47.9%) | 667 (45.5%) |
| ≥65 | 0 (0.0%) | 1 (0.4%) | 3 (2.2%) | 6 (1.6%) | 8 (1.2%) | 18 (1.2%) |
| Persons in household (n) | ||||||
| 1 | 1 (1.7%) | 5 (2.2%) | 7 (5.2%) | 18 (4.7%) | 24 (3.6%) | 55 (3.8%) |
| 2 | 5 (8.5%) | 22 (9.6%) | 10 (7.5%) | 57 (14.9%) | 78 (11.8%) | 172 (11.7%) |
| 3 | 9 (15.3%) | 78 (34.1%) | 41 (30.6%) | 124 (32.5%) | 236 (35.7%) | 488 (33.3%) |
| 4 | 30 (50.8%) | 79 (34.5%) | 53 (39.6%) | 109 (28.5%) | 203 (30.7%) | 474 (32.3%) |
| 5 | 10 (16.9%) | 28 (12.2%) | 11 (8.2%) | 55 (14.4%) | 77 (11.6%) | 181 (12.3%) |
| ≥6 | 4 (6.8%) | 17 (7.4%) | 12 (8.9%) | 19 (5.0%) | 44 (6.6%) | 96 (6.6%) |
| Restricted access to (n) | ||||||
| Testing | 33 (55.9%) | 131 (57.2%) | 73 (54.5%) | 183 (47.9%) | 484 (58.6%) | 808 (55.1%) |
| Geneticist follow‐up | 45 (76.2%) | 168 (73.3%) | 94 (70.1%) | 251 (65.7%) | 296 (73.1%) | 1,042 (71.1%) |
| Pharmacotherapy | 28 (47.4%) | 116 (50.6%) | 56 (41.8%) | 150 (39.3%) | 238 (44.7%) | 646 (44%) |
| Psychiatric follow‐up | 19 (32.2%) | 91 (39.7%) | 44 (32.8%) | 115 (30.1%) | 457 (5.9%) | 507 (34.6%) |
| Rehabilitation | 32 (54.2%) | 160 (69.9%) | 92 (68.6%) | 254 (66.5%) | 133 (69.0%) | 995 (67.9%) |
| Medicines | 8 (13.5%) | 64 (27.9%) | 26 (19.4%) | 74 (19.4%) | 133 (20.0%) | 305 (20.8%) |
| Surgery or transplant | 18 (30.5%) | 79 (34.5%) | 42 (31.3%) | 90 (23.6%) | 215 (32.5%) | 444 (30.3%) |
| Telemedicine (n) | ||||||
| Had the experience | 44 (74.6%) | 164 (71.6%) | 93 (69.4%) | 269 (70.4%) | 456 (68.9%) | 1,026 (70.0%) |
| Rated the experience as | 47 (79.7%) | 185 (80.8%) | 102 (76.1%) | 277 (72.5%) | 483 (72.9%) | 1,094 (74.6%) |
| Positive | 32 (68.1%) | 116 (62.7%) | 68 (66.7%) | 193 (69.7%) | 338 (70.0%) | 747 (68.3%) |
| Negative | 9 (19.1%) | 34 (18.4%) | 11 (10.8%) | 45 (16.2%) | 79 (16.3%) | 178 (16.3%) |
| Not sure | 6 (12.8%) | 35 (18.9%) | 23 (22.5%) | 39 (14.1%) | 66 (13.7%) | 169 (15.4%) |