Table 1 Baseline demographics and genetic characteristics
|  | AS deletion (N = 40) | AS nondeletion (N = 15) | AS 1–4 years (N = 16) | AS 5–12 years (N = 27) | AS ≥ 18 years (N = 12) | TDC (N = 20) |
|---|---|---|---|---|---|---|
Sex, n (%) | ||||||
 Male | 20 (50.0) | 11 (73.3) | 10 (62.5) | 16 (59.3) | 5 (41.7) | 10 (50.0) |
 Female | 20 (50.0) | 4 (26.7) | 6 (37.5) | 11 (40.7) | 7 (58.3) | 10 (50.0) |
Mean age, years ± SD (med; min–max) | 10.5 ± 8.7 (7.8; 1–31) | 9.9 ± 8.7 (8.7; 3–38) | 2.9 ± 0.9 (3.0; 1–5) | 8.3 ± 2.1 (8.2; 5–13) | 24.9 ± 5.9 (24.7; 18–38) | 6.5 ± 3.4 (6.5; 1–13) |
Age group, n (%) | ||||||
 1–4 years | 13 (32.5) | 3 (20.0) | 16 (100.0) | 0 (0.0) | 0 (0.0) | 9 (45.0) |
 5–12 years | 17 (42.5) | 10 (66.7) | 0 (0.0) | 27 (100.0) | 0 (0.0) | 11 (55.0) |
  ≥ 18 years | 10 (25.0) | 2 (13.3) | 0 (0.0) | 0 (0.0) | 12 (100.0) | 0 (0.0) |
Race, n (%) | ||||||
 Asian | 1 (2.5) | 1 (6.7) | 0 (0.0) | 1 (3.7) | 1 (8.3) | 0 (0.0) |
 Black or African American | 3 (7.5) | 0 (0.0) | 0 (0.0) | 1 (3.7) | 2 (16.7) | 1 (5.0) |
 White | 34 (85.0) | 13 (86.7) | 14 (87.5) | 24 (88.9) | 9 (75.0) | 16 (80.0) |
 Multiple | 2 (5.0) | 1 (6.7) | 2 (12.5) | 1 (3.7) | 0 (0.0) | 3 (15.0) |
Ethnicity, n (%) | ||||||
 Hispanic or Latino | 7 (17.5) | 5 (33.3) | 1 (6.3) | 9 (33.3) | 2 (16.7) | 5 (25.0) |
 Not Hispanic or Latino | 33 (82.5) | 10 (66.7) | 15 (93.8) | 18 (66.7) | 10 (83.3) | 15 (75.0) |
Mean weight, kg ± SD (med; min–max) | 31.8 ± 21.3 (24.5; 9.8–82.3) | 33.1 ± 20.0 (28.2; 14.0–90.8) | 13.6 ± 2.6 (14.2; 9.8– 18.1) | 28.6 ± 8.4 (27.2; 15.7– 55.0) | 64.8 ± 16.0 (62.5; 42.6– 90.8) | 23.9 ± 10.5 (21.2; 11.5–47.4) |
Mean height, cm ± SD (med; min–max) | 121.6 ± 26.9* (124.0; 79.0–179.0) | 127.1 ± 24.6 (124.0; 91.0–170.0) | 92.0 ± 7.6 (92.5; 79.0–106.0) | 126.7 ± 12.1 (126.0; 107.0–151.0) | 159.6 ± 10.1 (158.0; 144.0–179.0) | 118.2 ± 24.9 (117.5; 77.0–165.0) |
Mean BMI, kg/m2 ± SD (med; min–max) | 18.5 ± 4.7 (17.2; 13.0–31.1) | 19.0 ± 3.9 (18.3; 15.8–31.4) | 16.0 ± 1.5 (16.2; 13.0–18.8) | 17.5 ± 2.5 (17.2; 13.5–25.1) | 24.8 ± 4.8 (24.0; 18.4–31.4) | 16.5 ± 1.9 (16.6; 12.4–21.5) |
Mean head circumference, cm ± SD (med; min–max) | 51.1 ± 3.4 (51.5; 45.0–59.0) | 51.3 ± 3.6 (51.5; 46.0–58.7) | 47.6 ± 1.9 (47.6; 45.0–52.0) | 51.6 ± 2.4 (51.5; 47.8–58.0) | 54.9 ± 2.4 (54.8; 52.0–59.0) | 52.9 ± 2.8†(53.5; 47.0–57.0) |
Genetic variation detected, n (%) | ||||||
 Class 1 deletion | 19 (47.5) | 0 (0.0) | 9 (56.3) | 6 (22.2) | 4 (33.3) | N/A |
 Class 2 deletion | 19 (47.5) | 0 (0.0) | 3 (18.8) | 10 (37.0) | 6 (50.0) | N/A |
 Atypical deletion (Class 3 and Class 4) | 2 (5.0) | 0 (0.0) | 1 (6.3) | 1 (3.7) | 0 (0.0) | N/A |
 ID | 0 (0.0) | 4 (26.7) | 0 (0.0) | 3 (11.1) | 1 (8.3) | N/A |
 UBE3A mutation | 0 (0.0) | 5 (33.3) | 1 (6.3) | 4 (14.8) | 0 (0.0) | N/A |
 UPD | 0 (0.0) | 5 (33.3) | 2 (12.5) | 3 (11.1) | 0 (0.0) | N/A |
 Not defined (UPD or ID) | 0 (0.0) | 1 (6.7) | 0 (0.0) | 0 (0.0) | 1 (8.3) | N/A |