TABLE 1.
Participant demographics and clinical subgroups
| Caregivers (n = 19) | Healthcare providers (n = 7) | ||
|---|---|---|---|
| Age (years) | Age (years) | ||
| Mean | 42.5 | Mean | 47.9 |
| Min, max | 33, 64 | Min, max | 28, 70 |
| Gender, n (%) | Gender, n (%) | ||
| Male | 8 (42%) | Male | 3 (42.9%) |
| Female | 11 (58%) | Female | 4 (57.1%) |
| Race, n (%) | Race, n (%) | ||
| White | 16 (84%) | White | 6 (85.7%) |
| Non‐white | 3 (16%) | Asian | 1 (14.3%) |
| Ethnicity, n (%) | Ethnicity, n | ||
| Hispanic | 4 (21%) | Hispanic | 0 |
| Non‐Hispanic | 15 (79%) | Non‐Hispanic | 7 |
| Clinical specialty, n | |||
| Physician | 2 | ||
| Physical therapist | 2 | ||
| Educator | 1 | ||
| Genetic Counselor | 1 | ||
| Occupational Therapist | 1 |
| Individuals with STXBP1‐related disorders (n = 16) | |||
|---|---|---|---|
| Age at interview (years), n (%) | Race, n (%) | ||
| <1 | 1 (6%) | White | 13 (81%) |
| 1–5 | 6 (38%) | Non‐white | 3 (19%) |
| 6–9 | 3 (19%) | Ethnicity, n (%) | |
| 10–13 | 2 (13%) | Hispanic | 4 (25%) |
| 14–17 | 0 (0%) | Non‐Hispanic | 12 (75%) |
| 18+ | 4 (25%) | Seizures (n = 16), n (%) | |
| Age of diagnosis (years), n (%) | No seizures | 3 (19%) | |
| <1 | 7 (44%) | Seizures | 13 (81%) |
| 1–5 | 4 (25%) | Past seizures | 8 (62%) |
| 6–9 | 2 (13%) | Current seizures | 5 (38%) |
| 10–13 | 0 (0%) | Development (n = 15), n (%) | |
| 14–17 | 1 (6%) | Global DD | 15 (100%) |
| 18+ | 2 (13%) | Ambulation (n = 15), n (%) | |
| Years since diagnosis | Nonambulatory | 5 (33%) | |
| Mean | 4.78 | Ambulatory | 10 (67%) |
| Min, max | 0.31, 11 | Verbal communication (n = 15), n (%) | |
| Gender, n (%) | Verbal/some words | 3 (20%) | |
| Male | 7 (44%) | Nonverbal | 12 (80%) |
| Female | 9 (60%) | ||