This exploratory study tested and validated the use of data fusion and machine learning techniques to probe high-throughput omics and clinical data with a goal of exploring the etiology of developmental dyslexia. Developmental dyslexia is the leading learning disability in school aged children affecting roughly 5-10% of the US population. The complex biological and neurological phenotype of this life altering disability complicates its diagnosis. Phenome, exome, and metabolome data was collected allowing us to fully explore this system from a behavioral, cellular, and molecular point of view. This study provides a proof of concept showing that data fusion and ensemble learning techniques can outperform traditional machine learning techniques when provided small and complex multi-omics and clinical datasets. Heterogenous stacking classifiers consisting of single-omic experts/models achieved an accuracy of 86%, F1 score of 0.89, and AUC value of 0.83. Ensemble methods also provided a ranked list of important features that suggests exome single nucleotide polymorphisms found in the thalamus and cerebellum could be potential biomarkers for developmental dyslexia and heavily influenced the classification of DD within our machine learning models.
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http://dx.doi.org/10.1101/2023.02.27.530280 | DOI Listing |
Front Psychiatry
December 2024
Translational Genomic Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Background: Pathogenic variants in are associated with pyridoxine-dependent epilepsy (PDE), a rare autosomal recessive disorder characterized by epileptic seizures, unresponsiveness to standard antiseizure medications (ASM), and a response only to pyridoxine. Here, we report two patients (from a consanguineous family) with neonatal seizures and developmental delay.
Case Presentation: Patient 1 (a 13-year-old girl) was born normally at term.
J Speech Lang Hear Res
January 2025
Department of Communication Sciences and Disorders, MGH Institute of Health Professions, Boston, MA.
Purpose: Interprofessional practice requires regular communication between professionals from different disciplines using shared terminology. Within schools, many professionals are tasked with supporting children with language disorders, namely, developmental language disorder (DLD) and/or dyslexia. Limited information exists as to (a) how school-based professionals' definitions of DLD and dyslexia align with research definitions, (b) how different school-based professionals define language disorders, (c) how school-based professionals' definitions of DLD and dyslexia align across professional groups, and (d) how one's definition of a language disorder correlates with other measures of knowledge.
View Article and Find Full Text PDFAppl Neuropsychol Child
January 2025
Department of Child Health Care, The Affiliated Xuzhou Children's Hospital of Xuzhou Medical University, Xuzhou, China.
Motor-free visual perception abilities are important reference indicator for children's literacy skills. In the absence of Chinese norms, this study utilized the motor-free visual perception test-4 (MVPT-4) to assess the visual perception abilities of children aged 5-12 years in Xuzhou, China, to lay the foundation for establishing standardized norms in China. From May to July 2023, a stratified random sampling method was used to conduct MVPT-4 evaluation on 525 kindergarten and primary school children in Xuzhou, China.
View Article and Find Full Text PDFNetw Neurosci
December 2024
Department of Psychology, The University of Western Ontario, London, Canada.
We examined how thalamocortical connectivity structure reflects children's reading performance. Diffusion-weighted MRI at 3 T and a series of reading measures were collected from 64 children (33 girls) ages 8-14 years with and without dyslexia. The topological properties of the left and right thalamus were computed based on the whole-brain white matter network and a hub-attached reading network, and were correlated with scores on several tests of children's reading and reading-related abilities.
View Article and Find Full Text PDFCortex
December 2024
Department of Speech, Language and Hearing Sciences, University of Texas at Austin, United States; Department of Neurology, Dell Medical School, University of Texas at Austin, United States.
Script training is a speech-language intervention designed to promote fluent connected speech via repeated rehearsal of functional content. This type of treatment has proven beneficial for individuals with aphasia and apraxia of speech caused by stroke and, more recently, for individuals with primary progressive aphasia (PPA). In the largest study to-date evaluating the efficacy of script training in individuals with nonfluent/agrammatic primary progressive aphasia (nfvPPA; Henry et al.
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