Table 2

FSIQ (A), behavioural and psychiatric features (B) in deletion carriers and intrafamilial controls

AInheritedDe novoUnknownParentsSiblingsParentsSiblings
Mean age (years)14.710.915.736.810.238.611.7
Mean FSIQ7482.764.978.665.3109.1106.6
Number of cases1432*14744622
B16p11 Europe n (%)†Simons VIP n (%)†Total cohorts
DSM-IV-TR diagnosisChildrenAdultsChildrenAdultsn (%)
ASD‡1 (12.5)07 (15)08 (11.4)
Any DSM-IV-TR diagnosis other than ASD4 (50)§6 (50)§39 (83)2 (67)51 (72.9)
No diagnosis3 (37.5)6 (50)1 (2)1 (33)11 (15.7)
  • *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.