Neuropsychiatric phenotypes and a distinct constellation of ASD features in 3q29 deletion syndrome: results from the 3q29 registry

The 1.6 Mb 3q29 deletion is associated with neurodevelopmental and psychiatric phenotypes, including increased risk for autism spectrum disorder (ASD) and a 20 to 40-fold increased risk for schizophrenia. However, the phenotypic spectrum of the deletion, particularly with respect to ASD, remains poorly described. We ascertained individuals with 3q29 deletion syndrome (3q29Del, "cases," = 93, 58.1% male) and typically developing controls ( = 64, 51.6% male) through the 3q29 registry (https://3q29deletion.patientcrossroads.org). Self-report of neuropsychiatric illness was evaluated for 93 cases. Subsets of participants were evaluated with the Social Responsiveness Scale (SRS, = 48 cases, 56 controls), Social Communication Questionnaire ( = 33 cases, 46 controls), Autism Spectrum Screening Questionnaire ( = 24 cases, 35 controls), and Achenbach Behavior Checklists ( = 48 cases, 57 controls). 3q29Del cases report a higher prevalence of autism diagnoses versus the general population (29.0% vs. 1.47%,