Table 1 Genetic, psychopathological, and neurocognitive subject characteristics of the subjects
| Subject 1 | Subject 2 | Subject 3 | |
|---|---|---|---|
| Sex/age (years) | Male/44 | Female/43 | Male/39 |
|
Genetic defect [EHMT1 mosaicism] | ∼ 60 kb deletion exons 5–17 EHMT1 40% mosaicism in blood lymphocytes and buccal swab | ∼ 200 kb deletion exons 1–5 EHMT1 80% mosaicism buccal swab | ∼ 200 kb deletion exon 1 EHMT1 60% mosaicism blood lymphocytes |
| VABS (maximum score) | |||
| Communication (134) | 134 | 121 | 132 |
| Daily living skills (184) | 184 | 176 | 177 |
| Socialization (132) | 132 | 118 | 132 |
| Raw score (450) | 450 | 415 | 441 |
| Mean developmental age in years | > 12 | > 12 | > 12 |
| ADOS module 4 (cutoff score) | |||
| Communication (2) | 4 | 2 | 2 |
| Social interaction (4) | 7 | 10 | 9 |
| Total score (7) | 11 | 12 | 11 |
| Classification | Autism spectrum disorder | Autism spectrum disorder | Autism spectrum disorder |
| Mini PAS-ADD | |||
| Major depressive disorder | Past | Present and past | Present and past |
| Anxiety disorder | – | Present and past | – |
| (Hypo)mania | – | – | – |
| Obsessive compulsive disorder | – | Present and past | – |
| Psychosis | – | Present and past | – |
| Unspecified disorder | – | – | – |
| Autism spectrum disorder | – | – | – |
| CANTAB * | |||
| MOT mean latency | 85–90% | 40–45% | 80–85% |
| MOT error | 70–75% | 95–100% | 40–45% |
| PRM | 20–25% | 0–5% | 70–75% |
| IED error | 30–35% | 10–15% | 10–15% |
| IED completed stages | 15–20% | 5–10% | 10–15% |
| PAL | 55–60% | 0–5% | 75–80% |