Individuals with autism spectrum disorder experience a significant number of co-occurring medical conditions, yet little is known about these conditions beyond prevalence. Using large-scale de-identified medical records, we can use a novel phecode-based tool to characterize co-occurring conditions in autism spectrum disorder. We hypothesized that…

West Syndrome is a severe, early-onset epilepsy syndrome, with significant implications for subsequent neurological and cognitive development. While most children with a prior diagnosis of West Syndrome initially follow a normal developmental trajectory, there is evidence of subsequent emergence of clusters of difficulties, including autism…

Background: It is well established that very few individuals with autism spectrum disorders (ASD) and an IQ below 70 are able to live independently as adults. However, even amongst children with an IQ in the normal range, outcome is very variable. Childhood factors that predict later stability, improvement or decline in cognitive functioning…

Chromosomal microarray analysis (CMA) has emerged as a powerful new tool to identify genomic abnormalities associated with a wide range of developmental disabilities including congenital malformations, cognitive impairment, and behavioral abnormalities. CMA includes array comparative genomic hybridization (CGH) and single nucleotide polymorphism…