FSIQ (A), behavioural and psychiatric features (B) in deletion carriers and intrafamilial controls
| Carriers | |||||||
|---|---|---|---|---|---|---|---|
| Probands | Relatives | Non-carriers | |||||
| A | Inherited | De novo | Unknown | Parents | Siblings | Parents | Siblings |
| Mean age (years) | 14.7 | 10.9 | 15.7 | 36.8 | 10.2 | 38.6 | 11.7 |
| Mean FSIQ | 74 | 82.7 | 64.9 | 78.6 | 65.3 | 109.1 | 106.6 |
| Number of cases | 14 | 32* | 14 | 7 | 4 | 46 | 22 |
| B | 16p11 Europe n (%)† | Simons VIP n (%)† | Total cohorts | ||||
| DSM-IV-TR diagnosis | Children | Adults | Children | Adults | n (%) | ||
| ASD‡ | 1 (12.5) | 0 | 7 (15) | 0 | 8 (11.4) | ||
| Any DSM-IV-TR diagnosis other than ASD | 4 (50)§ | 6 (50)§ | 39 (83) | 2 (67) | 51 (72.9) | ||
| No diagnosis | 3 (37.5) | 6 (50) | 1 (2) | 1 (33) | 11 (15.7) | ||
| Total | 8 | 12 | 47 | 3 | 70 | ||
*Two mosaic cases.
†10 probands and 10 relatives in the 16p11.2 European cohort and 44 probands and 6 relatives in Simons VIP.
‡ADOS and Autism Diagnostic Interview criteria
§Include attention deficit and disruptive behaviour disorders (n=4), anxiety disorders (n=5), mood disorders (n=3) and substance related disorders (n=2). Patients can have more than one diagnosis.
ADOS, Autism Diagnostic Observation Schedule; ASD, autism spectrum disorder; DSM-IV-TR, Diagnostic and Statistical Manual of Mental Disorders, 4th edition, text revision; FSIQ, full scale intelligence quotient.