Elemi J. Breetvelt

Changes in Genetic Contributions to ASD and ADHD by Year of Diagnosis Key Points Question Has the genetic risk profile of individuals diagnosed with autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) changed as diagnostic rates have increased? Findings In this cohort study among 17 071 individuals with incident diagnosis of ASD and 20 111 individuals with incident diagnosis of ADHD, genetic contributions to ASD and ADHD diagnoses weakened over the past 2 decades.

We found that a regional excess of genetic variants with minor allele frequencies (MAF) 1% and < 5%) were driving this effect but only in interaction with rare genetic variants. The aim of this study was to extend the analysis of regional variant excess on ASD and schizophrenia liability to common variants, determine overlap with the results for the initial findings and explore the specific impact of LFvars.

Importance  Patients with 22q11.2 deletion syndrome (22q11DS) have an elevated (25%) risk of developing schizophrenia. Recent reports have suggested that a subgroup of children with 22q11DS display a substantial decline in cognitive abilities starting at a young age. Objective  To determine whether early cognitive decline is associated with risk of psychotic disorder in 22q11DS. Design, Setting, and Participants  Prospective longitudinal cohort study.