3q29 deletion syndrome (3q29del) is a rare (~1:30 000) genomic disorder associated with a wide array of neurodevelopmental and psychiatric phenotypes. Prior work by our team identified clinically significant executive function (EF) deficits in 47% of individuals with 3q29del; however, the nuances of EF in this population have not been described.

We used the Behavior Rating Inventory of Executive Function (BRIEF) to perform the first in-depth assessment of real-world EF in a cohort of 32 individuals with 3q29del (62.5% male, mean age = 14.5 ± 8.3 years). All participants were also evaluated with gold-standard neuropsychiatric and cognitive assessments. High-resolution structural magnetic resonance imaging was performed on a subset of participants (n = 24).

We found global deficits in EF; individuals with 3q29del scored higher than the population mean on the BRIEF global executive composite (GEC) and all subscales. In total, 81.3% of study subjects (n = 26) scored in the clinical range on at least one BRIEF subscale. BRIEF GEC T scores were higher among 3q29del participants with a diagnosis of attention deficit/hyperactivity disorder (ADHD), and BRIEF GEC T scores were associated with schizophrenia spectrum symptoms as measured by the Structured Interview for Psychosis-Risk Syndromes. BRIEF GEC T scores were not associated with cognitive ability. The BRIEF-2 ADHD form accurately (sensitivity = 86.7%) classified individuals with 3q29del based on ADHD diagnosis status. BRIEF GEC T scores were correlated with cerebellar white matter and subregional cerebellar cortex volumes.

Together, these data expand our understanding of the phenotypic spectrum of 3q29del and identify EF as a core feature linked to both psychiatric and neuroanatomical features of the syndrome.

Studies have shown that there are overlapping traits and symptoms between autism and psychosis but no study to date has addressed this association from an epidemiological approach in the adult general population. Furthermore, it is not clear whether autistic traits are associated with specific symptoms of psychosis or with psychosis in general. We assess these associations for the first time by using the Adult Psychiatric Morbidity Survey (APMS) 2007 and the APMS 2014, predicting an association between autistic traits and probable psychosis, and specific associations between autistic traits and paranoia and strange experiences.

Participants (N = 7353 in 2007 and 7500 in 2014) completed the Psychosis Screening Questionnaire (PSQ) and a 20-item version of the Autism Quotient (AQ-20). Binomial logistic regressions were performed using AQ-20 as the independent variable and probable psychosis and specific symptoms as dependent variables.

In the APMS 2007 dataset, significant associations were found between autism traits and probable psychosis, paranoia, thought insertion, and strange experiences. These results were replicated in APMS 2014 but with the additional significant association between autistic traits and hallucinations. Participants in the highest quartile of the AQ-20, compared with the lowest quartile, had an increased risk of probable psychosis of odds ratio (OR) = 15.5 [95% confidence interval (CI) 4.57–52.6] in APMS 2007 and OR = 22.5 (95% CI 7.64–66.3) in APMS 2014.

Autistic traits are strongly associated with probable psychosis and psychotic experiences with the exception of mania. Limitations such as the cross-sectional nature of the study are discussed.