Neurology

Autism

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

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Predicting agranulocytosis in patients treated with clozapine – development and validation of a machine learning algorithm based on 5,550 patients

To prevent clozapine-induced agranulocytosis (CIA), patients’ white blood cell counts are closely monitored, with treatment stopped if the absolute neutrophil count (ANC) drops below 1.5×109/L. While effective, this approach has a high rate of false positives. This study aimed to develop a machine learning (ML) decision-making tool to better predict CIA risk using pattern-based criteria (two conse...

Neuroimaging-AI endophenotypes reveal underlying mechanisms and genetic factors contributing to progression and development of four brain disorders

Recent work leveraging artificial intelligence has offered promise to dissect disease heterogeneity by identifying complex intermediate brain phenotypes, called dimensional neuroimaging endophenotypes (DNEs). We advance the argument that these DNEs capture the degree of expression of respective neuroanatomical patterns measured, offering a dimensional neuroanatomical representation for studying di...

Redefining Autism Subtypes: a machine learning approach leveraging topological data analysis, network measures and hemispheric lateralization

Autism subtypes, including general Autism Spectrum Disorder (ASD) and Asperger Syndrome (AS), exhibit distinct neural connectivity patterns. This stud...

Early Detection of Autism Spectrum Disorder in Children Using Different Machine Learning Algorithms

Autism spectrum disorder(ASD) is a neurological condition marked by impaired communication abilities, social detachment, and repetitive behaviors in i...

The gSOS Polygenic Score is Associated with Bone Density and Fracture Risk in Childhood

The polygenic risk score genetic quantitative ultrasound speed of sound (gSOS) was developed using machine learning algorithms in adults of European a...

Conversational Artificial Intelligence for Translational Precision Medicine: Integrating Social Determinants of Health, Genomics, and Clinical Data with AI-HOPE-PM

Introduction: Achieving equity in translational precision medicine requires the integration of genomic, clinical, and social determinants of health (S...

Towards a diagnostic test for sporadic ALS utilising deep learning and SNP microarrays

A variety of common and rare genetic factors have been implicated in the development of amyotrophic lateral sclerosis (ALS), and the evidence is that ...

Deciphering epistatic genetic regulation of cardiac hypertrophy

Although genetic variant effects often interact non-additively, strategies to uncover epistasis remain in their infancy. Here, we develop low-signal s...

Federated Learning for the pathogenicity annotation of genetic variants in multi-site clinical settings

Rare diseases collectively affect 5% of the population. However, fewer than 50% of rare disease patients receive a molecular diagnosis after whole gen...

Cross-Disorder Machine Learning Uncovers Schizophrenia Risk Variants Predictive of Alzheimer’s Disease

Alzheimer’s disease (AD) and Schizophrenia (SCZ) exhibit overlapping clinical features and biological mechanisms, but the extent of their shared genet...

DoBSeqWF: A framework for sensitive detection of individual genetic variation in pooled sequencing data

Population screening for rare genetic diseases is limited by the high cost of next- generation sequencing. Double-batched sequencing (DoBSeq) is a cos...

Silencer variants are key drivers of gene upregulation in Alzheimer’s disease

Alzheimer’s disease (AD), particularly late-onset AD, stands as the most prevalent neurodegenerative disorder globally. Owing to its substantial herit...

Multimodal deep learning enhances genomic risk prediction for cardiometabolic diseases in UK Biobank

Cardiometabolic diseases are multifactorial disorders influenced by numerous genetic variants and their complex interactions. Although recent studies ...

Predicting Alzheimer’s Trajectory: A Multi-PRS Machine Learning Approach for Early Diagnosis and Progression Forecasting

Predicting the early onset of dementia due to Alzheimer’s Disease (AD) has major implications for timely clinical management and outcomes. Current dia...

VADEr: Vision Transformer-Inspired Framework for Polygenic Risk Reveals Underlying Genetic Heterogeneity in Prostate Cancer

Polygenic risk scores (PRSs) serve as quantitative metrics of genetic liability for various conditions. Traditionally calculated as an effect size wei...

The allostatic overload in pregnancy during the COVID-19 pandemic and potential effects on the health of the mother-child dyad: Study Protocol

Allostatic load refers to the cumulative burden of stress and life events that involve the interaction of various physiological systems at differing l...

Advances in Newborn Screening for Sickle Cell Disease: A Systematic Review of Diagnostic Methods and Innovations

Sickle cell disease (SCD) is one of the most prevalent hemoglobinopathies worldwide, particularly in regions with high genetic predisposition. Early d...

Elucidating Emotional Patterns in Autism Spectrum Disorder: BERT-Based Analysis Reveals Novel Dimensional Structure

Autism spectrum disorder (ASD) is associated with difficulties in emotion recognition and regulation, which complicates clinical support and treatment...

Dissecting the genetic complexity of myalgic encephalomyelitis/chronic fatigue syndrome via deep learning-powered genome analysis

Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a complex, heterogeneous, and systemic disease defined by a suite of symptoms, includin...

Development and validation of genomic biotypes for schizophrenia susceptibility from multiple polygenic scores

Understanding the genetic architecture of schizophrenia (SCZ) is invaluable for the development of personalized treatment. In three independent cohort...

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