Table 4.
Patient sample characteristics—cognitive interviews
| Socio-demographic characteristics | Children n = 12 |
Adolescents n = 12 |
Adults n = 12 |
Total n = 36 |
|---|---|---|---|---|
| Gender | ||||
| Male | 6 (50.0%) | 7 (58.3%) | 6 (50.0%) | 19 (52.8%) |
| Female | 6 (50.0%) | 5 (41.7%) | 6 (50.0%) | 17 (47.2%) |
| Age (years) | ||||
| Mean (SD) | 7.7 (2.21) | 15 (0.91) | 23.6 (5.35) | 15.4 (7.33) |
| Median | 7.5 | 15 | 21.5 | 15 |
| Min, max | 5, 12 | 14, 17 | 18, 35 | 5, 35 |
| Race/ethnicity | ||||
| Caucasian | 10 (83.3%) | 11 (91.7%) | 11 (91.7%) | 32 (88.9%) |
| Asian | 1 (8.3%) | 1 (2.8%) | ||
| Black | ||||
| Hispanic | 1 (8.3%) | 1 (8.3%) | 1 (8.3%) | 3 (8.3%) |
| Type of Angelman syndrome | ||||
| Small deletion | 2 (16.7%) | 3 (25%) | 2 (16.7%) | 7 (19.4%) |
| Large deletion | 3 (25%) | 2 (16.7%) | 1 (8.3%) | 6 (16.7%) |
| Deletion + (size unknown) | 1 (8.3%) | 6 (50%) | 7 (19.4%) | |
| Mutation | 2 (16.7%) | 2 (16.7%)a | 2 (16.7%) | 6 (16.7%) |
| Imprinting center defect | 2 (16.7%) | 1 (8.3%) | 3 (8.3%) | |
| Uniparental disomy | 1 (8.3%) | 1 (8.3%) | 2 (5.6%) | |
| Mosaic | 1 (8.3%) | 1 (8.3%)a | 2 (5.6%) | |
| Abnormal methylation pattern | 1 (8.3%) | 1 (2.8%) | ||
| Unknown | 1 (8.3%) | 1 (8.3%) | 2 (5.6%) | |
| Not reported | 1 (8.3%) | 1 (2.8%) |
aOne participant indicated they were both mosaic and mutation