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% |