Table 1.
Demographic data, discovery and replication data
| Discovery, ENIGMA-CNV | Replication, deCODE | |||||||
|---|---|---|---|---|---|---|---|---|
| del | con | dup | P | del | con | dup | P | |
| Individuals | 12 | 6882 | 12 | 3 | 832 | 6 | ||
| Age (mean (sd)) | 27.8 (20.4) | 43.5 (20.0) | 31.2 (19.6) | 0.003 | 48.7 (14) | 46.2 (12) | 47.0 (15) | NS |
| Sex = female (%) | 6 (50%) | 3724 (54%) | 3 (25%) | NS | 2 (67%) | 502 (60%) | 1 (17%) | NS |
| Established diagnosis, n (%) | 7 (58%) | 336 (4.9%) | 3 (25%) | <0.001 | 0 (0%) | 158 (19%) | 2 (33%) | NS |
| Diagnosis type (%)a | ||||||||
| ADHD | 1 (8.3%)b | 2 (<0.1%) | 149 (18%) | 2 (33%) | ||||
| Autism | 2 (17%) | 1 (0.1%) | ||||||
| Bipolar | 1 (8.3 %) | 100 (1.5 %) | 7 (0.8%) | |||||
| Dysthymia | 1 (8.3 %)c | 1 (<0.1%) | ||||||
| Epilepsy | 1 (8.3%) | 101 (1.5%) | ||||||
| Enuresis | 1 (8.3%) | |||||||
| Language disorder | 1 (8.3%)c | |||||||
| MDD | 13 (0.2%) | 1 (8.3%)d | ||||||
| Schizophrenia | 1 (8.3%) | 119 (1.7%) | 1 (0.1%) | |||||
| Scanner sites | 7 | 14 | 9 | 1 | 1 | 1 | ||
| Types of arrayse | 8 | 11 | 9 | Various | Various | Various | ||
| Children, n (%) | 5 (41.7%) | 788 (11.5%) | 5 (41.7%) | <0.001 | 0 (0) | 0 (0) | 0 (0) | |
| Close relative in data set, n (%) | 5 (41.7%) | 1994 (30.8%) | 2 (16.7%) | NS | 3 (0%) | 832 (0%) | 6 (0%) | |
Age, sex, established diagnosis, diagnosis type, number of scanner sites, types of arrays, children (number of individuals below 18 years) and individuals with close relatives (>3rd degree relatives) in the data set. P (p-value) is based on a χ2-test for categorical values and ANOVA for continuous values (R-package, TableOne)
ADHD attention deficit disorder, MDD major depressive disorder, SCZ schizophrenia, del deletion carrier, con non-carriers, dup duplication carrier, NS non-significant
aDiagnosis type specifies the total number within each carrier group with an established neurodevelopmental or psychiatric diagnosis
bIn addition to Specific Learning disorder
cIn addition to Moderate ID and Speech Sound disorder
dIn addition to Social Anxiety disorder
eThe arrays for ENIGMA-CNV are specified in Sup Table 1