Autism

Suicide is a global health problem affecting both normative and clinical populations. Theoretical models that examine mechanisms underlying suicide risk across heterogeneous samples are needed. The present study explored core characteristics associated with autism spectrum disorder (ASD), a sub-population at high risk of suicide, as well as two dimensional cognitive constructs, as potential transdiagnostic predictors of suicidal ideation in a clinically diverse sample. Participants (n = 1851, 62% female) aged 18 to 89 years completed online questionnaires assessing: social communication difficulties; insistence on sameness; cognitive control; and rumination...

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CONTEXT: Dolphin-assisted therapy (DAT) is a popular form of animal-assisted therapy for autism spectrum disorders and other psychological conditions. OBJECTIVE: In this review, our third, we analyze the most recent DAT studies in terms of construct and internal validity criteria to determine if there is empirical support for DAT. METHOD: To ensure a systematic review, we searched for peer-reviewed studies on DAT by submitting relevant search terms to Google Scholar from 2007 to 2020, conducted a further search of all DAT papers in several peer-reviewed journals, and reviewed reference sections of DAT articles to ensure a thorough review of the literature between 2007 and the present...

LRFN2 encodes a synaptic adhesion-like molecule that physically interacts with N-methyl-D-aspartate (NMDA) receptor 1 and its scaffold proteins. Previous studies in humans and mice have demonstrated its genetic association with neurodevelopmental disorders such as learning deficiency and autism. In this study, we showed that Lrfn2-deficient (KO) mice exhibit abnormalities of erythropoietic systems due to altered NMDA receptor function. In mature Lrfn2 KO male mice, peripheral blood tests showed multilineage abnormalities, including normocytic erythrocythemia, and reduced platelet volume...

As a complex neurodevelopmental disorder, autism affects children in three major cognitive domains including social interactions, language learning and repetitive stereotyped behaviors. Abnormal regulation of cell proliferation in the brain during the embryonic period via the TGF-β signaling pathway and TRIM33 gene that encodes a protein with a corepressor and regulatory role in this pathway has been considered as an etiology for autism. Here, we investigated the association of a variation of TRIM33 with autism symptoms at levels of mRNA and protein expression...

We examined the quality of evidence supporting the effects of Naturalistic Developmental Behavioral Interventions (NBDIs) for facilitating change in young children with autism. We also investigated whether effects varied as a function of specific features of the intervention, samples, and outcomes measured. Twenty-seven studies testing the effects of NDBIs were extracted from data collected for the Autism Intervention Meta-analysis (Project AIM), a comprehensive meta-analysis of group design, nonpharmacological intervention studies for children with autism aged 0-8 years...

OBJECTIVE: The purpose of this study is to compare the perceived parenting dimensions in mothers and their daughters (differences between two generations), and study the relationship between these dimensions and the severity of daughters' behavioral and emotional symptoms. MATERIALS AND METHODS: 300 participants (150 daughters with their mothers) participated in this study. They responded to the perceived parenting styles questionnaire (PSQ), and mothers were additionally asked to answer the child symptoms inventory-4 (CSI-4)...

Hyperserotonemia, in the early developmental phase, generates a variety of behavioural and biochemical phenotypes associated with autism spectrum disorder (ASD) in rats. Papaverine is known to provide benefits in various brain conditions. We investigated the role of a selective phosphodiesterase-10A (PDE10A) inhibitor, papaverine on ASD related behavioural phenotypes (social behaviour deficits, repetitive behaviour, anxiety and hyperlocomotion) in developmental hyperserotonemia (DHS) rat model. Also, effects on important biochemical markers related with neuronal function (brain-derived neurotrophic factor (BDNF)-neuronal survival and phosphorylated-cAMP response element binding protein (pCREB)-neuronal transcription factor), brain inflammation (interleukin (IL)-6, IL-10 and tumour necrosis factor (TNF)-α) and brain oxidative stress (TBARS and GSH) were studied in important brain areas (frontal cortex, cerebellum, hippocampus and striatum)...

The immune and nervous systems have unique developmental trajectories that individually build intricate networks of cells with highly specialized functions. These two systems have extensive mechanistic overlap and frequently coordinate to accomplish the proper growth and maturation of an organism. Brain resident innate immune cells - microglia - have the capacity to sculpt neural circuitry and coordinate copious and diverse neurodevelopmental processes. Moreover, many immune cells and immune-related signalling molecules are found in the developing nervous system and contribute to healthy neurodevelopment...

What makes a network complex, in addition to its size, is the interconnected interactions between elements, disruption of which inevitably results in dysfunction. Likewise, the brain networks' complexity arises from interactions beyond pair connections, as it is simplistic to assume that in complex networks state of a link is independently determined only according to its two constituting nodes. This is particularly of note in genetically complex brain impairments, such as the autism spectrum disorder (ASD), which has a surprising heterogeneity in manifestations with no clear-cut neuropathology...

Neuropsychiatric disorders, such as autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), schizophrenia (SCZ), bipolar disorder (BIP), and major depressive disorder (MDD) share common clinical presentations, suggesting etiologic overlap. A substantial proportion of SNP-based heritability for neuropsychiatric disorders is attributable to genetic components, and genome-wide association studies (GWASs) focusing on individual diseases have identified multiple genetic loci shared between these diseases...

Inflammation is increasingly recognized as a cause or consequence of common problems of humanity including obesity, stress, depression, pollution and disease states such as autoimmunity, asthma, and infection. Maternal immune activation (MIA), triggered by both acute and systemic chronic inflammation, is hypothesized to be one of the mechanisms implicated in the pathogenesis of neurodevelopmental disorders (NDD). Although there is substantial preclinical evidence to support the MIA hypothesis, the human evidence is disparate...

BACKGROUND: Autism is characterised not only by impaired social cognitive 'empathising' but also by superior rule-based 'systemising'. These cognitive domains intertwine within the categorical diagnosis of autism, yet behavioural genetics suggest largely independent heritability, and separable brain mechanisms. We sought to determine whether quantitative behavioural measures of autistic traits are dimensionally associated with structural and functional brain network integrity, and whether brain bases of autistic traits vary independently across individuals...

BACKGROUND: Both RNA-Seq and sample freeze-thaw are ubiquitous. However, knowledge about the impact of freeze-thaw on downstream analyses is limited. The lack of common quality metrics that are sufficiently sensitive to freeze-thaw and RNA degradation, e.g. the RNA Integrity Score, makes such assessments challenging. RESULTS: Here we quantify the impact of repeated freeze-thaw cycles on the reliability of RNA-Seq by examining poly(A)-enriched and ribosomal RNA depleted RNA-seq from frozen leukocytes drawn from a toddler Autism cohort...

This study evaluated the influence of activity preference and involvement on season completion in a community-based football program for children with and without neurodevelopmental disorders. Caregivers ( n = 1428) of 1529 children aged 4 to 17 ( M = 7.27, SD = 1.85), with ( n = 175) and without ( n = 1354) neurodevelopmental disorders who were currently participating or had previously participated in a group-based NAB AFL Auskick football program completed an online survey. The survey collected information on their child's completion of any attempted seasons of the football program, level of involvement during the sessions and preference for football over other sports and activities...

Chromodomain Helicase DNA-binding 8 ( CHD8 ) is a high confidence risk factor for autism spectrum disorders (ASDs) and the genetic cause of a distinct neurodevelopmental syndrome with the core symptoms of autism, macrocephaly, and facial dysmorphism. The role of CHD8 is well-characterized at the structural, biochemical, and transcriptional level. By contrast, much less is understood regarding how mutations in CHD8 underpin altered brain function and mental disease. Studies on various model organisms have been proven critical to tackle this challenge...

Visual pedagogy has emerged as a new approach in improving dental care in children with autism spectrum disorders (ASDs). This paper aimed to evaluate and assess the scientific evidence on the use of visual pedagogy in improving oral hygiene skills and cooperation during dental care in children with ASDs. The review protocol was registered on the PROSPERO Register (CRD42020183030). Prospective clinical studies, randomized trials, interruptive case series, before and after comparison studies, and cross-sectional studies following the PRISMA guideline were searched in PubMed, Embase, Scopus, and Google Scholar using ad hoc prepared search strings...

In the current study, functional near-infrared spectroscopy (fNIRS) was used to collect resting-state signals from 77 males with autism spectrum disorders (ASD, age: 6~16.25) and 40 typically developing (TD) males (age: 6~16.58) in the theory-of-mind (ToM) network. The graph theory analysis was used to obtain the brain network properties in ToM network, and the multiple regression analysis demonstrated that males with ASD showed a comparable global network topology, and a similar age-related decrease in the medial prefrontal cortex area (mPFC) compared to TD individuals...

BACKGROUND: Motor dysfunction has been reported as one of the first signs of atypical development in infants at high familial risk for autism spectrum disorder (ASD) (HR infants). However, studies have shown inconsistent results regarding the nature of motor dysfunction and whether it can be predictive of later ASD diagnosis. This is likely because current standardized motor assessments may not identify subtle and specific motor impairments that precede clinically observable motor dysfunction...

Autism spectrum disorder (ASD) is characterized by a complex polygenic background, but with the unique feature of a subset of cases (~15%-30%) presenting a rare large-effect variant. However, clinical interpretation in these cases is often complicated by incomplete penetrance, variable expressivity and different neurodevelopmental trajectories. NRXN1 intragenic deletions represent the prototype of such ASD-associated susceptibility variants. From chromosomal microarrays analysis of 104 ASD individuals, we identified an inherited NRXN1 deletion in a trio family...