Table 1.
Patient characteristics—concept elicitation
| Patient socio-demographic characteristics | Children n = 11 |
Adolescents n = 11 |
Adults n = 12 |
Total n = 34 |
|---|---|---|---|---|
| Gender | ||||
| Male | 6 (54.5%) | 6 (54.5%) | 6 (50.0%) | 17 (50.0%) |
| Female | 5 (45.5%) | 5 (45.5%) | 6 (50.0%) | 17 (50.0%) |
| Age (years) | ||||
| Mean (SD) | 7.9 (2.26) | 15.0 (1.00) | 23.6 (5.35) | 15.7 (7.43) |
| Median | 8 | 15 | 21.5 | 15 |
| Min, max | 5, 12 | 14, 17 | 18, 35 | 5, 35 |
| Race/ethnicity | ||||
| Caucasian | 9 (81.8%) | 10 (90.9%) | 11 (91.7%) | 30 (88.2%) |
| Asian | 1 (9.1%) | 1 (2.9%) | ||
| Black | ||||
| Hispanic | 1 (9.1%) | 1 (9.1%) | 1 (8.3%) | 3 (8.8%) |
| Time since diagnosis (years) | ||||
| Mean (SD) | 6.4 (2.6) | 11.6 (3.8) | 19.8 (4.0) | 12.8 (6.6) |
| Median | 6.8 | 13.0 | 17.7 | 13.3 |
| Min, max | 2.3, 11.9 | 4.9, 16.1 | 14.2, 26.8 | 2.3, 26.8 |
| Type of Angelman syndrome | ||||
| Small deletion | 2 (18.2%) | 1 (9.1%) | 3 (25%) | 6 (17.6%) |
| Large deletion | 3 (27.3%) | 2 (18.2%) | 2 (16.7%) | 7 (20.6%) |
| Deletion + (size unknown) | 1 (9.1%) | 4 (41.7%) | 5 (14.7%) | |
| Mutation | 2 (18.2%) | 2 (18.2%)a | 2 (16.7%) | 6 (17.6%) |
| Imprinting center defect | 2 (18.2%) | 1 (9.1%) | 3 (8.8%) | |
| Uniparental disomy | 1 (9.1%) | 1 (9.1%) | 2 (5.9%) | |
| Mosaic | 1 (9.1%)a | 1 (2.9%) | ||
| Unknown | 1 (9.1%) | 1 (8.3%) | 2 (5.9%) | |
| Abnormal methylation pattern | 1 (9.1%) | 1 (2.9%) | ||
| Not reported | 1 (9.1%) | 1 (9.1%) | 2 (5.9%) |
aOne participant indicated they were both mosaic and mutation