Autism Spectrum Disorder Research

The paper shows that inhibiting TRPV4 rescues social and circuit deficits in Shank3 mutant mice induced by inflammation.

The paper uses exome sequencing to identify genetic variants associated with response to social skills training in autistic individuals, finding that rare variants may reduce intervention effectiveness.

This study investigates sensory-perceptual differences in autism using a decision-under-uncertainty paradigm, finding intact priors, precise likelihood, reduced context updating, and heightened variability in sensory learning.

The paper conducts a cross-linguistic meta-analysis of acoustic markers in autistic children, identifying reliable but small acoustic differences and highlighting the need for more diverse datasets.

This study identifies shared and distinct structural brain differences in children with autism and anxiety, using neuroimaging data from 82 participants.

The paper identifies a recurrent SHANK3 frameshift variant in Autism Spectrum Disorder, showing de novo mutations and variable expressivity.

This study identifies sex-atypical and sex-typical brain connectivity patterns associated with camouflaging in females with autism, suggesting hormonal and genetic factors may influence the sex bias in autism.

The paper stratifies Autism spectrum disorders using genomic data to identify overlapping genes and propose subtypes for personalized therapies.

The paper examines altered Salience Network connectivity in 6-week-old infants at risk for autism, finding that stronger sensorimotor connectivity predicts ASD symptomatology.

This study uses community detection to identify subgroups in ASD based on subcortical brain volumes, revealing more homogeneous groups with enhanced case/control differences.

The paper links mTOR-related synaptic pathology to functional hyperconnectivity in autism using mouse models and human fMRI data.

This study investigates neural entrainment and anticipation in children with ASD compared to typically developing controls, finding reduced entrainment and altered anticipation in ASD.

This study examines white matter microstructural and morphometric differences in autism spectrum disorder (ASD) across subgroups with and without intellectual impairment, finding key alterations in corpus callosum and cerebellum.

This study shows that astrocytes from ASD patients induce repetitive behavior and impair memory when transplanted into healthy mice, suggesting a primary role for astrocytes in ASD.

The paper identifies structural variants (SVs) in ASD families and links them to molecular pathways and genes associated with non-verbal ASD, using explainable AI for subgroup identification.

The paper examines functional connectivity in toddlers with autism, finding disrupted links between temporal-visual cortex and communication/social abilities, particularly in those with poor social engagement.

This study shows that CHD8 haploinsufficiency in mice causes gut dysfunction and anxiety-like behaviors, linking gut health to autism-related behaviors through the gut-brain axis.

The paper maps genetic and environmental influences on autistic traits across Sweden and the UK using twin study data, revealing geographical variations in their aetiology.

This study identifies de novo variants in Chinese ASD trios, finding that ASD without DD/ID has fewer disruptive variants and novel risk genes not in existing databases.

This study identifies CDH11 as an ASD-associated gene using matched-gene co-expression analysis and behavioral validation in mice.

This study investigates whether autistic individuals show differences in adaptation and serial choice bias compared to typically developing controls, finding no significant differences.

The paper identifies atypical genomic cortical patterning in autistic toddlers with poor early language outcome, linking it to prenatal developmental processes and later functional specialization.

This study uses patient-derived forebrain organoids to investigate the effects of a CNTNAP2 mutation on cortical development, finding increased cell proliferation and differential gene expression associated with ASD.

This study examines altered cerebellar responses to somatosensory stimuli in Cntnap2 knockout mice, revealing changes in Purkinje cell function and morphology linked to autism-like sensory processing deficits.

This study uses a multimodal dialogue agent to analyze speech and facial metrics in children with ASD, finding correlations between vocal and kinematic metrics and clinical assessments of affect and motor function.

The paper examines temporal dynamics of brain networks in young children with autism using EEG microstates, finding altered microstate patterns and compensatory mechanisms in ASD.

The paper investigates the link between thalamocortical overconnectivity, sleep problems, and sensory sensitivities in preschoolers with ASD.

The paper examines the association between PGC-1α DNA methylation, mtDNA copy number, and urinary metabolites in ASD, finding significant correlations in both ASD and control groups.

Whole-genome sequencing in thousands of families reveals variants relevant to simplex autism in a brain enhancer of the well-established neurodevelopmental disorder gene EBF3.