Transposable elements (TEs) have been implicated in autism spectrum disorder (ASD). However, our understanding of their roles is far from complete. Herein, we explored de novo TE insertions (dnTEIs) and de novo variants (DNVs) across the genomes of dizygotic twins with ASD and their parents. The neuronal regulatory elements had a tendency to…

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition with a strong genetic basis. We accurately assessed 209 ASD subjects, categorized in complex (47) and essential (162), and performed array comparative genomic hybridization to identify pathogenic and recurrent Copy Number Variants (CNVs). We found 117 CNVs in 75…

Leaky gut hypothesis is one of the well-known theory which tries to explain etiology of Autism Spectrum Disorder (ASD). Unfortunately there is still a gap of evidence to investigate the corner points of the hypothesis. The aim of this study was to investigate the determinants of leaky gut in children with ASD, their siblings and healthy controls.…

Autism spectrum disorders (ASD) are strikingly more prevalent in males, but the molecular mechanisms responsible for ASD sex-differential risk are poorly understood. Abnormally shorter telomeres have been associated with autism. Examination of relative telomere lengths (RTL) among non-syndromic male (N = 14) and female (N = 10) children with…

Purpose: Down Syndrome Regression Disorder (DSRD) is a diagnosis of exclusion. Psychiatric and neuroimmunologic etiologies have been proposed although the exact etiology remains unknown. This study sought to review non-DSRD diagnoses at a large quaternary medical center specializing in the diagnosis of DSRD and compare clinical characteristics…

The purely descriptive definition of autism introduced by the DSM III in 1980 marked a departure from previous DSM editions, which mixed phenomenological descriptions with psychoanalytic theories of etiology. This provided a blank slate upon which a variety of novel theories emerged to conceptualize autism and its treatment in the following four…

Although genetic factors are involved in the etiology of autism spectrum disorder (ASD), the significance of genetic analysis in clinical settings is unclear. Forty-nine subjects diagnosed with non-syndromic ASD were analyzed by microarray comparative genomic hybridization (CGH) analysis, whole-exome sequencing (WES) analysis, and panel sequencing…

Investigations into the etiology of autism spectrum disorders have been largely confined to two realms: variations in DNA sequence and somatic developmental exposures. Here we suggest a third route--disruption of the germline epigenome induced by exogenous toxicants during a parent's gamete development. Similar to cases of germline mutation, these…

This paper examines the genesis of Leo Kanner's 1943 seminal paper on autism. It shows that describing children as autistic or lacking affective contact with people was not new by this time. But Kanner's proposal that infantile autism constituted a hitherto unidentified condition that was inborn and different from childhood schizophrenia was new.…

A plethora of neuroimaging studies have focused on the discovery of potential neuroendophenotypes useful to understand the etiopathogenesis of autism and predict treatment response. Social robotics has recently been proposed as an effective tool to strengthen the current treatments in children with autism. However, the high clinical heterogeneity…

We aimed to identify unique constellations of sensory phenotypes for genetic etiologies associated with diagnoses of autism spectrum disorder (ASD) and intellectual disability (ID). Caregivers reported on sensory behaviors via the Sensory Profile for 290 participants (younger than 25 years of age) with ASD and/or ID diagnoses, of which…

Vitamin and fatty acid deficiency in children diagnosed with autism has been linked to the etiology and course of the disease but the results have been inconsistent. In our work, we present a narrative review, which includes 20 observational studies that provide data on the blood levels of vitamin D, folate, or fatty acids of children diagnosed…

Previous research indicates that infection, especially from viruses in the family Herpesviridae, may play a role in the etiology of some cases of autism spectrum disorder (ASD). Using a case-control design and the polymerase chain reaction with site-specific primers, we screened newborn and childhood blood samples for the presence of eight human…

In Kazakhstan, the diagnosis of autism relies upon the expertise of various specialists and a range of measures that have not been researched to date. The present study collected data from a range of health specialists across Kazakhstan currently known to be involved in the diagnosis of children with autism. The research was an explanatory mixed…

Myhre syndrome (MS) is a connective tissue disorder with multisystem involvement with or without intellectual disability. In most cases SMAD4 mutations are reported. To date, 55 individuals have been molecularly confirmed. Autism has been proposed among associate clinical features of MS but no standardized diagnosis was available in previous…