Autism Spectrum Disorder Research

This study assesses the tolerability and usability of smartglasses designed as a social communication aid for individuals with autism spectrum disorder.

The paper investigates exonic mosaic mutations in autism spectrum disorder (ASD) using whole-exome sequencing data from the Simons Simplex Collection, finding significant synonymous SMM burden and enrichment in chromatin modifiers.

The paper uses multivariate genetic models to show how genetic influences on social-communication difficulties change over time, with distinct factors at different developmental stages.

The paper examines functional convergence in autism spectrum disorder across different study designs and finds a correlation between gene involvement in autism and functional convergence strength.

The paper identifies 10 differentially expressed co-expression modules in ASD cortex, showing coordinated dysregulation of transcriptional programs rather than independent pathways.

The paper identifies de novo intronic indels in autism target genes from simplex families and finds they contribute to at least 10% of simplex autism.

The paper uses polygenic transmission disequilibrium to show common and rare variants act additively in autism risk, with polygenic risk over-transmitted to ASD cases but not unaffected siblings.

The paper compares mouse models of syndromic ASD with human ASD brain data to identify shared myelination and axon development disruptions across both syndromic and idiopathic ASD.

The paper uses a new pedigree analysis method to identify shared genomic segments in high-risk ASD families, finding one genome-wide significant segment and several suggestive regions.

This study finds no significant increase in early head circumference in children later diagnosed with autism, challenging the overgrowth hypothesis of autism.

The paper identifies structural abnormalities in the temporal corpus callosum fibers of toddlers later diagnosed with autism, showing altered diffusion metrics and correlations with autism severity.

The paper investigates how genes related to educational attainment interact with risk genes for autism and schizophrenia, finding shared genetic pathways and enrichment in human accelerated regions.

The paper examines genetic relationships in ASD trios, finding smaller genetic distance in spousal pairs with ASD-affected children and higher minor allele content in cases for ASD-associated SNPs.