Table 2.
Phenotypic comparisons between subjects with 16p11.2 deletions, 16p11.2 duplications, and 7q11.23 duplications and matched probands.
| Primary | 16p Deletion (N=8) Meana (SD) | Deletion Matches (N=40) Mean (SD) | 16p Duplication (N=6) Mean (SD) | Duplication Matches (N=30) Mean (SD) | Duplications (N=4) Mean (SD) | Duplication Matches (N=20) Mean (SD) |
|---|---|---|---|---|---|---|
| CPEA Diagnosis | ||||||
| • Autism | 75% | 98% | 83% | 97% | 100% | 85% |
| • Autism Spectrum Disorder | 13% | 3% | 0% | 0% | 0% | 10% |
| • Asperger Syndrome | 13% | 0% | 17% | 3% | 0% | 5% |
| ADOS Combined Severity Score (CSS) | 6.5 | 7.0 | 7.2 | 7.4 | 7.0 | 7.6 |
| (1.6) | (1.7) | (2.1) | (1.5) | (2.2) | (1.6) | |
| Full-Scale IQ | 76.9 | 82.5 | 75.7 | 81.0 | 84.0 | 81.3 |
| (17.6) | (27.8) | (23.2) | (26) | (14.9) | (30.5) | |
| Body Mass Index (BMI) | 23.2 | 20.9 | 17.1 | 19.3 | 23.1 | 21.6 |
| (6.4) | (5.3) | (1.4) | (5.2) | (5.9) | (6.4) | |
| Exploratory | ||||||
| ADI-R Social Interaction Total | 17.9 | 21.3 | 21.8 | 19.1 | 20.0 | 19.9 |
| (6.7) | (5.5) | (3.5) | (5.6) | (5.5) | (7.0) | |
| ADOS Social Affect Total | 9.9 | 9.5 | 10.8 | 10.7 | 11.0 | 11.7 |
| (4.0) | (4.2) | (5.3) | (3.2) | (4.8) | (3.3) | |
| ADOS Social and Communication Total | 12.4 | 11.5 | 14.2 | 12.7 | 11.8 | 13.7 |
| (3.9) | (4.2) | (6.0) | (3.1) | (5.7) | (3.6) | |
| ADI-R Restricted and Repetitive Behavior (RRB) Total | 5.4 | 6.8 | 8.5 | 6.3 | 7.3 | 6.3 |
| (2.6) | (2.3) | (1.9) | (2.1) | (1.7) | (2.6) | |
| ADOS RRB Total | 2.0 | 3.7 | 4.3 | 3.6 | 2.0 | 4.1 |
| (1.3) | (1.9) | (2.6) | (1.7) | (1.4) | (2.0) | |
| Aberrant Behavior Checklist (ABC) Total | 46.8 | 42.0 | 68.7 | 42.5 | 66.0 | 47.2 |
| (24.3) | (28.6) | (21.5) | (17.9) | (26.7) | (21.0) | |
| ABC Irritability | 14.9 | 9.6 | 19.5 | 10.5 | 20.0 | 12.0 |
| (9.3) | (9.1) | (6.4) | (7.8) | (13.0) | (7.6) | |
| ABC Hyperactivity | 16.5 | 13.9 | 26.7 | 14.0 | 20.3 | 18.3 |
| (9.1) | (10.3) | (6.6) | (7.9) | (9.7) | (9.1) | |
| ABC Lethargy/Social Withdrawal | 9.5 | 10.0 | 11.5 | 10.3 | 13.8 | 9.8 |
| (6.6) | (7.7) | (8.6) | (7.2) | (8.4) | (6.2) | |
| Age First Concern | 2.8 | 1.7 | 1.7 | 2.0 | 1.8 | 2.1 |
| (1.5) | (0.9) | (0.9) | (0.9) | (1.0) | (1.3) |
a
Significance is shown in bold (p≤0.05) and italics (0.05<p≤0.1)