Neurology

Autism

Latest AI and machine learning research in autism for healthcare professionals.

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Evaluating the Effect of Frame Rate in Sequence-Based Classification of Autism-Related Self-Stimulatory Hand Idiosyncrasies

Autism spectrum disorder (ASD) affects over 75 million individuals worldwide, yet scalable computational methods for remote behavioral screening remain limited. This study addresses two complementary challenges in automated detection of autism-related self-stimulatory behaviors from video: (1) identifying the optimal sequence-based neural network architecture and temporal sampling rate, and (2) ch...

Jul 8 2026 2607.07957v1

Accelerometry-Derived REM Sleep Behavior Disorder Predicts Future Parkinson's Disease in the UK Biobank

Estimating Parkinson's disease (PD) risk years before diagnosis remains an unmet need. We applied a validated machine learning classifier for REM sleep behavior disorder (RBD) detection to 7-day wrist accelerometry data in 87,975 UK Biobank participants followed for 10 years. Participants in the highest RBD risk stratum (>99th percentile) had an approximately fivefold increased hazard of incident ...

Task-adapted biological foundation models uncover perturbation-centric representations

Foundation models have emerged as powerful tools for learning transferable representations of biological systems, yet their latent spaces are typicall...

Frequent, context-dependent effects of human genetic variation on Cas9 activity revealed by population-scale GUIDE-seq-2 and deep combinatorial CHANCE-seq profiling

Genome editing enzymes can introduce targeted changes to the DNA in living cells, transforming biological research and enabling the first approved gen...

CALM: Interpretable Cross-Modal Alignment for Biomarker Discovery from Unpaired Data

The interaction between brain structure and genetic influences is key to understanding neuropsychiatric disorders. However, most large-scale datasets ...

Jul 2 2026 2607.01656v1
Machine-Learning Model Identifies New Diagnostic Criteria for Beckwith-Wiedemann Spectrum

Objective Beckwith-Wiedemann spectrum (BWSp) is an overgrowth and cancer predisposition disorder caused by genetic and epigenetic alterations of chrom...

Integrating Genetic, Environmental, Cognitive, and Temperament Data for ADHD Prediction in Explainable Deep Learning Models

Objective: Attention-deficit/hyperactivity disorder (ADHD) is clinically and etiologically heterogeneous, and diagnostic decisions may benefit from in...

Epigenetic signatures of infection within and across generations in the endangered Loggerhead sea turtle

Infection can substantially reduce host fitness and influence population dynamics, yet it is often difficult to detect and quantify in wild animal pop...

Rett syndrome lifespan extension in mice via AI-guided ADAR editing

Rett syndrome is a severe neurodevelopmental disorder primarily caused by mutations in the MECP2 gene. A significant subset of severe cases are driven...

eRNAformer enables genome-wide de novo mapping of enhancer-derived RNA loci

Enhancer-derived RNAs (eRNAs) are critical regulators of gene transcription, yet their genome-wide annotation remains challenging. Here, we present eR...

Machine Learning-based Prediction of Preterm Birth Using Genetic Data

The leading cause of mortality and morbidity in children under the age of 5 is preterm birth. The timing of birth is influenced by both genetic and en...

Fine-tuning a multimodal large language model for clinician-grade autism behavioral scoring from short home videos

Autism spectrum disorder (ASD) affects 1 in 31 US children, yet median age at diagnosis exceeds four years. Artificial intelligence pipelines that pro...

Jun 25 2026 2606.27484v1
Heterogeneous and Adept Snapshot Distillation for 3D Semantic Segmentation

Multi-modal fusion and multi-model ensembling are prevalent in enhancing the performance of 3D semantic segmentation. Despite the impressive performan...

Jun 24 2026 2606.25278v1
ComCat: Combating Covariate Effects in Brain Analysis

As neuroimaging analysis shifts toward large-scale, multi-site studies, managing the unwanted variability introduced by combining heterogeneous datase...

Identification of environmental factors and growth stages in the prediction of fibre yield and fibre quality traits in rain-grown cotton

Context Understanding how and when environmental conditions influence overall crop performance is crucial for optimising the development of genotypes ...

Adverse Childhood Experiences and Growth Outcomes in Childhood: A Longitudinal EHR-Based Study

Question Are adverse childhood experiences (ACEs) associated with altered growth trajectories in childhood? Findings In this cohort study of 412,549 c...

ICD-10 Code Ambiguity Obscures Treatment-Eligible Adults with Spinal Muscular Atrophy: A Single-Center Chart Review and Patient Outreach Study

Background. Three disease-modifying therapies (DMTs) for spinal muscular atrophy (SMA) have been approved since 2016, yet many adults remain untreated...

POISE: Spectral Inference of Parent-of-Origin Effects in Unlabeled Genomic Data

Motivation: Parent of Origin Effects (POEs), where the effect of an an allele on a phenotype differs based on maternal or paternal inheritance implica...

Multimodal Ordinal Modeling of Alzheimer's Disease Severity Using Structural MRI and Clinical Data

Neurodegenerative diseases such as Alzheimer's disease (AD) require accurate and scalable tools for assessing disease severity, yet current clinical s...

Jun 10 2026 2606.11794v1
Functional Continuum of GABAergic Synaptic Dynamics Reflects Genetic Identities

The language of the brain is articulated by temporal patterns of neuronal activity, which individual synapses interpret through distinct forms of syna...

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