Autism spectrum disorders (ASD) and epilepsy co-occur in approximately 30% of individuals with either ASD or epilepsy. While there is no single unifying ASD-epilepsy phenotype, understanding potential commonalities in subgroups of children with an ASD-epilepsy phenotype will help us disentangle the pathophysiology of both ASD and epilepsy. Throughout this brief historical perspective we selecti...

Single nucleotide variants (SNVs), particularly loss-of-function mutations, are significant contributors to autism spectrum disorder (ASD) risk. Here we report the first systematic deep sequencing study of 55 postmortem ASD brains for SNVs in 78 known ASD candidate genes. Remarkably, even without parental samples, we find more ASD brains with mutations that are protein-altering (26/55 cases ver...

Recent studies implicate chromatin modifiers in autism spectrum disorder (ASD) through the identification of recurrent de novo loss of function mutations in affected individuals. ASD risk genes are co-expressed in human midfetal cortex, suggesting that ASD risk genes converge in specific regulatory networks during neurodevelopment. To elucidate such networks, we identify genes targeted by CHD8,...

An implementation of Automatic Sparsity Detection (ASD) as a new source-to-source transformation is presented. Given a code for evaluation of a function, ASD generates code to evaluate the sparsity pattern of the function’s Jacobian by operations on bit-vectors. Similar to Automatic Differentiation (AD), there are forward and reverse modes of ASD. As ASD code has significantly fewer required va...

The prevalence of sleep related complaints is reported by questionnaire studies to be as high as 83.3% in children with autism spectrum disorders (ASD). Questionnaire studies report the presence of various parasomnia in ASD. However, no polysomnographic study reports non-REM parasomnias and only a single study reports REM related parasomnias in ASD. We investigated the prevalence and characteri...

Autism spectrum disorder (ASD) is a common neurodevelopmental disorder characterized by pervasive difficulties since early childhood across reciprocal social communication and restricted, repetitive interests and behaviors. Although early ASD research focused primarily on children, there is increasing recognition that ASD is a lifelong neurodevelopmental disorder. However, although health and e...

OBJECTIVE To develop a clinically valid interactive level 2 screening assessment for autism spectrum disorders (ASD) in toddlers that is brief, easily administered, and scored by clinicians. STUDY DESIGN We describe the development, training, standardization, and validation of the Rapid Interactive Screening Test for Autism in Toddlers (RITA-T) with ASD-specific diagnostic instruments. The RI...

BACKGROUND The development of left and right superior temporal gyrus (STG) 50 ms (M50) and 100 ms (M100) auditory responses in typically developing (TD) children and in children with autism spectrum disorder (ASD) was examined. Reflecting differential development of primary/secondary auditory areas and supporting previous studies, it was hypothesized that whereas left and right M50 STG response...

Background  Autistic Spectrum Disorder (ASD) is a neurodevelopmental disorder. There is a large quantity of evidence which point towards a positive correlation between Autism and Mitochondrial disorders (MD). In addition to that, several published reports, indicate that people with neurological disorders exhibit pathological signs of mitochondrial disorders and vice versa. Screening for underly...