Autism

Autism spectrum disorders (ASDs) belong to the category of neurodevelopmental disorders. ASD emerges in early childhood and involves deficits in communication, language, behavioural inflexibility and fixity, and sensorial neurodivergent perception. ASDs have a biological pathogenesis related to genetic and epigenetic factors. Additionally, research has shown that starting from childhood, autistic persons could find emotional regulation challenging during communication with caregivers. The importance of emotional co-regulation has always been under-lined in psychology, starting with Freud who introduced the concept of the Compassionate Other...

INTRODUCTION: utism spectrum disorder (ASD) is a heterogeneous clinical condition, and its genetic basis is widely confirmed. The chromosomal microarray analysis (CMA) is a first-line diagnostic test that identifies copy number variants (CNVs). Some of these genomic rearrangements are associated with ASD, but the meaning of most of them is still unknown. MATERIALS AND METHODS: We performed a comparative genome hybridization (array-CGH) analysis in 130 children with confirmed ASD...

Embryonic valproic acid (VPA) has been considered a potential risk factor for autism. Majority of studies indicated that targeting autism-associated alterations in VPA-induced autistic model could be promising in defining and designing therapeutics for autism. Numerous investigations in this field investigated the role of canonical Wnt signaling cascade in regulating the pathophysiology of autism. The impaired blood-brain barrier (BBB) permeability and mitochondrial dysfunction are some key implied features of the autistic brain...

Introduction Despite the well-established association between antipsychotics and metabolic adverse effects in psychiatric disorders, the variable influence of long-term and off-label antipsychotic medication on behavioral disorders has not been investigated in detail. Objective To clarify the impact of antipsychotic use on challenging behavior (CB) and neuropsychiatric symptoms (NPS), we evaluated the clinical findings and cardiometabolic effects in individuals with intellectual disability (ID) hospitalized in our residential facility for profoundly disabled patients...

Interleukin-17 (IL-17), a cytokine characteristically secreted by T helper 17 (Th17) cells, has attracted increasing attention in recent years because of its importance in the pathogenesis of many autoimmune or chronic inflammatory diseases. Recent studies have shown that neurological diseases and mental disorders are closely related to immune function, and varying degrees of immune dysregulation may disrupt normal expression of immune molecules at critical stages of neural development. Starting from relevant mechanisms affecting immune regulation, this article reviews the research progress of IL-17 in a selected group of neurological diseases and mental disorders (autism spectrum disorder, Alzheimer's disease, epilepsy, and depression) from the perspective of neuroinflammation and the microbiota-gut-brain axis, summarizes the commonalities, and provides a prospective outlook of target application in disease treatment...

In response to COVID-19, the New York City Early Intervention (EI) Program rapidly transitioned from in-person to teletherapy services. We describe the timing of service resumption among children who received EI services between March 1 and March 17, 2020. The proportion of children who transitioned to teletherapy-only was 25% as of March 24, rising to 78% by July 6. By December 31, 2020, 87% of the cohort had resumed either teletherapy or in-person services. Child age, race, language, and neighborhood poverty all predicted service resumption timing...

Some current studies call for the adoption of the theory of the Double Empathy Problem (DEP) to reappraise autistic individuals' problematic social communications with non-autistic individuals from the perspectives of both sides, rather than exclusively focusing on the social cognition of individuals with autism. However, there is no specific proposal that explicates how such reframed social communications proceed. Herein, we adopt two subcomponents of the Integrated Model of Pragmatic Competence (IMPC) to clarify the main factors leading to the divergent social interactions between the two groups...

Eye tracking technology has emerged as a valuable tool in the field of medicine, offering a wide range of applications across various disciplines. This perspective article aims to provide a comprehensive overview of the diverse applications of eye tracking technology in medical practice. By summarizing the latest research findings, this article explores the potential of eye tracking technology in enhancing diagnostic accuracy, assessing and improving medical performance, as well as improving rehabilitation outcomes...

BACKGROUND: Bullying perpetration and victimization have gained widespread recognition as major public health issues. However, few studies focused on exploring prevalence rates across impairments or chronic health conditions exist in the literature. The primary purpose of this analysis was to provide current estimates of bullying victimization and perpetration among US youth with 24 chronic health conditions. A secondary purpose was to examine associations between the number of chronic health conditions and bullying victimization and perpetration...

BACKGROUND: Maternal inflammation can result from immune dysregulation and metabolic perturbations during pregnancy. Whether conditions associated with inflammation during pregnancy increase the likelihood of autism spectrum disorder (ASD) or other neurodevelopmental disorders (DDs) is not well understood. METHODS: We conducted a case-control study among children born in California from 2011 to 2016 to investigate maternal immune-mediated and cardiometabolic conditions during pregnancy and risk of ASD ( n  = 311) and DDs ( n  = 1291) compared with children from the general population ( n  = 967)...

BACKGROUND: Pragmatic language weaknesses, a core feature of autism spectrum disorder (ASD), are implicated in externalizing behavior disorders (Gremillion & Martel, 2014). Particularly in a clinical setting, these co-occurring externalizing disorders are very common in autism; rates of Attentional Deficit-Hyperactive Disorder (ADHD) and Oppositional Defiant Disorder (ODD) are as high as 83% (ADHD) and 73% (ODD; Joshi et al., 2010). It is possible that pragmatic language weaknesses impact the ability to effectively communicate one's needs, which may lead autistic children to utilize externalizing behaviors in order to achieve a desired outcome (Ketelaars et al...

INTRODUCTION: The experience and perception of stigma is a common problem among primary caregivers of children with autism spectrum disorder (ASD), and has a profound adverse impact on primary caregivers and children with ASD; however, few studies have explored courtesy stigma among primary caregivers of children with ASD in the Chinese context. The aim of this study was to explore the status of courtesy stigma among primary caregivers of children with ASD in Lianyungang, Jiangsu Province, Eastern China, and to conduct in-depth analysis of its predictors from multiple perspectives...

BACKGROUND AND AIMS: The diversity of the autistic population seeking professional services and education in the United States has increased. As the diagnosis of autism increases among the Chinese American immigrant population, there is also an increasing need to learn about this population and provide appropriate intervention and education for this group. However, current education and intervention provided for autistic individuals tend to be culturally blind. Gaps were found in our understanding of the cultural context and its relationship with the education mechanisms among Chinese American autistic families...

Single-cell RNA-sequencing (scRNA) datasets are becoming increasingly popular in clinical and cohort studies, but there is a lack of methods to investigate differentially expressed (DE) genes among such datasets with numerous individuals. While numerous methods exist to find DE genes for scRNA data from limited individuals, differential-expression testing for large cohorts of case and control individuals using scRNA data poses unique challenges due to substantial effects of human variation, i.e., individual-level confounding covariates that are difficult to account for in the presence of sparsely-observed genes...

The thalamic reticular nucleus (TRN) is a critical brain region that greatly influences vital neurobehavioral processes, including executive functioning and the generation of sleep rhythms. Recently, TRN dysfunction was suggested to underlie hyperactivity, attention deficits, and sleep disturbances observed across various devastating neurodevelopmental disorders, including autism, schizophrenia and attention-deficit/hyperactivity disorder (ADHD). Notably, a highly specialized sarco- endoplasmic reticulum calcium (Ca 2+ ) ATPase 2 (SERCA2)-dependent Ca 2+ signaling network operates in the dendrites of TRN neurons to regulate their high-frequency bursting activity...

Epilepsy and epileptiform patterns of cortical activity are highly prevalent in autism spectrum disorders (ASDs), but the neural substrates and pathophysiological mechanisms underlying the onset of cortical dysfunction in ASD remains elusive. Reduced cortical expression of Parvalbumin (PV) has been widely observed in ASD mouse models and human postmortem studies, suggesting a crucial role of PV interneurons (PVINs) in ASD pathogenesis. Shank3B -/- mice carrying a Δ13-16 deletion in SHANK3 exhibit cortical hyperactivity during postnatal development and reduced sensory responses in cortical GABAergic interneurons in adulthood...

BACKGROUND: Autism spectrum disorder (ASD) is a prevalent and heterogeneous neurodevelopmental disorder. Risk is attributed to genetic and prenatal environmental factors, though the environmental agents are incompletely characterized. METHODS: In Early Autism Risk Longitudinal Investigation (EARLI) and Markers of Autism Risk in Babies Learning Early Signs (MARBLES), two pregnancy cohorts with high likelihood of ASD, maternal urinary metals concentrations at two time points during pregnancy were measured using inductively coupled plasma mass spectrometry...

BACKGROUND: Relatively little is known about social cognition in people with intellectual disability (ID), and how this may support understanding of co-occurring autism. A limitation of previous research is that traditional social-cognitive tasks place a demand on domain-general cognition and language abilities. These tasks are not suitable for people with ID and lack the sensitivity to detect subtle social-cognitive processes. In autism research, eye-tracking technology has offered an effective method of evaluating social cognition-indicating associations between visual social attention and autism characteristics...

Autism spectrum disorder (ASD) is one of the most common neurodevelopmental diagnoses. Although incompletely understood, structural and functional network alterations are increasingly recognized to be at the core of the condition. We utilized multimodal imaging and connectivity modeling to study structure-function coupling in ASD and probed mono- and polysynaptic mechanisms on structurally-governed network function. We examined multimodal magnetic resonance imaging data in 80 ASD and 61 neurotypical controls from the Autism Brain Imaging Data Exchange (ABIDE) II initiative...

OBJECTIVES: The EQ-5D-5L is a generic health utility instrument for measuring health-related quality of life (HRQoL), with self-report and proxy-report versions for children (EQ-5D-Y-5L). Children with intellectual disability (ID) are a heterogeneous population whose impairments and comorbidities place them at risk of poor HRQoL. This study aimed to describe the content validity and suitability for children with ID of a proxy-report version of the EQ-5D-Y-5L as seen by their caregivers...