Table 5.
Psychiatric disorder rates from parent and adult self-report and chart review
| Total (n) | No eval | Had eval | GDD | Lang Dx | ADHD | ID | ODD | OCD | Anxiety | MDD | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AB/AC deletion | 13 | 7.7% | 92.3% | 30.8% | 0.0% | 53.8% | 0.0% | 7.7% | 23.1% | 23.1% | 0.0% |
| A-B deletion | 10 | 10% | 90% | 30% | 0% | 50% | 0% | 10% | 20% | 20% | 0% |
| < 3 yrs | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 3–14 yrs | 8 | 0 | 8 | 2 | 0 | 4 | 0 | 0 | 1 | 1 | 0 |
| 15+ yrs | 1 | 0 | 1 | 1 | 0 | 1 | 0 | 1 | 1 | 1 | 0 |
| A-C deletion | 3 | 0% | 100% | 33.3% | 0% | 66.7% | 0% | 0% | 33.3% | 33.3% | 0% |
| 3–14 yrs | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 15+ yrs | 2 | 0 | 2 | 0 | 0 | 2 | 0 | 0 | 1 | 1 | 0 |
| BD/CD deletion | 12 | 33.3% | 66.7% | 16.7% | 8.3% | 8.3% | 25% | 8.3% | 25% | 25% | 0% |
| B-D deletion | 8 | 12.5% | 87.5% | 37.5% | 0% | 12.5% | 12.5% | 0% | 0% | 25% | 25% |
| < 3 yrs | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 3–14 yrs | 5 | 0 | 5 | 3 | 0 | 1 | 1 | 0 | 0 | 0 | 0 |
| 15+ yrs | 2 | 0 | 2 | 0 | 0 | 0 | 0 | 0 | 0 | 2 | 2 |
| C-D deletion | 4 | 75% | 25% | 0% | 0% | 25% | 0% | 25% | 25% | 25% | 25% |
| < 3 yrs | 2 | 2 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 15+ yrs | 2 | 1 | 1 | 0 | 0 | 1 | 0 | 1 | 1 | 1 | 1 |
| BD/CD duplication | 9 | 33.3% | 66.6% | 22.2% | 0% | 0% | 44.4% | 0% | 11.1% | 11.1% | 11.1% |
| B-D duplication | 7 | 42.9% | 57.1% | 28.6% | 14.3% | 28.6% | 0% | 0% | 0% | 14.3% | 14.3% |
| < 3 yrs | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 3–14 yrs | 3 | 0 | 3 | 2 | 1 | 1 | 0 | 0 | 0 | 1 | 0 |
| 15+ yrs | 3 | 2 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| C-D duplication | 2 | 0% | 100% | 100% | 0% | 0% | 0% | 0% | 0% | 0% | 0% |
| 3–14 yrs | 2 | 0 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| Total sample | 34 | 23.5% | 76.5% | 32.3% | 2.9% | 32.3% | 2.9% | 5.9% | 11.8% | 20.6% | 11.8% |
We observed elevated rates of psychiatric diagnoses among individuals with nested duplications or deletions relative to population base rates using parent- and self-report data confirmed in medical records. Among the full sample, 77% had received a psychiatric evaluation. The most commonly reported diagnoses in our sample included ADHD and Global Developmental Delay (GDD), which may reflect the sample’s skew toward younger ages (see Table 2 for sample characteristics). We present rates for group totals, and we present n’s for age bins based roughly on when documentation of diagnosis would be expected (i.e., GDD and language disorders are frequently diagnosed before age 3, ADHD and ID are usually diagnosed in childhood after age 3, and depression and anxiety frequently onset during adolescence or adulthood) to facilitate interpretation of overall group rates because rates for disorders that frequently appear in adolescence (e.g., anxiety and depression) are likely underestimates
Abbreviations: Eval evaluation; ADHD attention deficit/hyperactivity disorder; ID intellectual disability; OCD obsessive compulsive disorder; GDD Global Developmental Delay; Lang Dx language disorder, receptive or expressive; ODD oppositional defiant disorder; MDD major depressive disorder; Del deletion; Dup duplication; yrs years