The clinical similarity among different neuropsychiatric disorders (NPDs) suggested a shared genetic basis. We catalogued 23,109 coding de novo mutations (DNMs) from 6511 patients with autism spectrum disorder (ASD), 4,293 undiagnosed developmental disorder (UDD), 933 epileptic encephalopathy (EE), 1022 intellectual disability (ID), 1094…

The "22q11.2 duplication" is a variably penetrant copy number variant (CNV) associated with a broad spectrum of clinical manifestations including autism spectrum disorders (ASD), and epilepsy. Here, we report on pathogenic "HUWE1" and "KIF1A" mutations in two severely affected ASD/ID participants carrying a 22q11.2…

The Autism Dysmorphology Measure is designed for non-expert clinicians. It uses an algorithm to assess 12 body regions and categorizes Autism on the number of dysmorphic regions identified; Essential ([less than or equal to] 3), Equivocal (4-5) or Complex ([greater than or equal to] 6). We evaluated 200 Indian children with Autism (mean age…

Although epilepsy commonly presents with autism in children, it is currently unknown whether established estimates represent the prevalence and incidence of epilepsy in autistic adults. Our objective was to use population-level Medicaid data to determine prevalence, incidence, and antiepileptic drug use associated with epilepsy in a unique…

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…

The prevalence of autism spectrum disorder in South Africa is unknown and, to date, very little research has been performed within school systems that could inform the rates, distribution and profile of needs of children with autism spectrum disorder in education. We performed a comprehensive database search of all children with autism spectrum…

With increasing numbers of children being diagnosed with neurodevelopmental disorders (NDDs) attention has been drawn to these children's physical health. We aimed to identify the prevalence of defined physical problems (epilepsy, migraine, asthma, cancer, diabetes, psoriasis, lactose intolerance, celiac disease, diarrhea, constipation, daytime…

Children with disabilities demonstrate fewer complex pretend play behaviors than children with typical development, which might limit their social participation in early childhood settings. A multiple-probe design was used to examine the relation between a single prompt procedure--constant time delay--and the acquisition, maintenance, and…

We examined how demographic and clinical characteristics differ between emergency department (ED) visits for epilepsy (EP cohort) and ED visits for other reasons (non-EP cohort) in children with ASD. The data were drawn from the 2009 and 2010 Nationwide Emergency Department Sample. We performed both univariate and multivariate analyses to compare…

A nationwide survey of children diagnosed with autism spectrum disorders (ASD) was conducted with the aim of exploring outcomes in adolescence and adulthood. The purpose of this article is to evaluate the representativeness of the study population and to describe the study population. In total, 1,734 parents and 933 individuals with ASD returned…

A retrospective data analysis using 2004-2014 Healthcare Cost and Utilization Project Nationwide Inpatient Sample was conducted to examine in-hospital mortality among adults with autism spectrum disorders in the United States compared to individuals in the general population. We modeled logistic regressions to compare inpatient hospital mortality…

Autistic children have a high prevalence of co-occurring mental health, developmental/behavioral, and medical conditions, but research on sex/gender differences has been mixed. We used Florida healthcare claims data to characterize sex differences (female/male) in co-occurring conditions among autistic children ages 1-21 (N = 83,500). After…

Examined the psychiatric and clinical correlates of loss of previously acquired skills (regression) as reported by parents of youth with autism spectrum disorder (ASD). Study sample comprised 6- to 18-year old (N = 213) children and adolescents with ASD. Parents reported regression in 77 (36%) youth. A more homogeneous subgroup with regression…

Background: The strength of the relationship between epilepsy and regression in autism spectrum disorder (ASD) has been much discussed but is currently unclear. Methods: The authors conducted 2 meta-analyses of published studies to determine if children with ASD who experience regression (ASD-R) epilepsy are more likely to have epilepsy or…

Whole exome sequencing (WES) has been utilized with increasing frequency to identify mutations underlying rare diseases. Autism spectrum disorders (ASD) and intellectual disability (ID) are genetically heterogeneous, and novel genes for these disorders are rapidly being identified, making these disorders ideal candidates for WES. Here we report a…