Results 71 to 80 of about 39,351 (290)

The expression and assessment of emotions and internal states in individuals with severe or profound intellectual disabilities [PDF]

, 2011
The expression of emotions and internal states by individuals with severe or profound intellectual disabilities is a comparatively under-researched area. Comprehensive or standardised methods of assessing or understanding the emotions and internal states
Adams, Dawn, Christopher, Oliver
core   +1 more source

Microglia Mitochondria Support Neuronal Maturation via Metabolic and Transcriptional Reprogramming in Human 3D In Vitro Brain Model

Advanced Science, EarlyView.
xx xx. ABSTRACT Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by disrupted neuronal circuit maturation. Emerging evidence implicates microglial function and mitochondrial regulation as contributors to ASD‐associated biology, yet the mechanisms linking these processes to neuronal development remain poorly defined ...
Sydney P. Sterben, Charitha C. Anamala, Sahan B. S. Kansakar, Vaishnavi Koduri, Volha Liaudanskaya   +4 more
wiley   +1 more source

A Subset of Autism-associated Genes Regulate the Structural Stability of Neurons

Frontiers in Cellular Neuroscience, 2016
Autism spectrum disorder (ASD) comprises a range of neurological conditions that affect individuals’ ability to communicate and interact with others. People with ASD often exhibit marked qualitative difficulties in social interaction, communication, and ...
Yu-Chih Lin, Jeannine A Frei, Michaela B.C. Kilander, Wenjuan Shen, Gene J Blatt   +4 more
doaj   +1 more source

Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder. [PDF]

, 2014
BackgroundAutism spectrum disorders (ASDs) are male-biased and genetically heterogeneous. While sequencing of sporadic cases has identified de novo risk variants, the heritable genetic contribution and mechanisms driving the male bias are less understood.
Cantor, Rita M, Geschwind, Daniel H, Lowe, Jennifer K, Luo, Rui, Werling, Donna M, Werling, Donna M   +5 more
core   +2 more sources

Temporal and Cell‐Specific Regulation of Synaptic Homeostasis by the Chromatin Remodeler Chd1

Advanced Science, EarlyView.
Chd1, the Drosophila homologue of mammalian CHD2 ‐ a gene linked to autism, epilepsy, and intellectual disability, is required for synaptic homeostatic plasticity. Chd1 in glia is necessary for the rapid induction of synaptic homeostasis, whereas Chd1 in motoneurons, muscle, and glia is critical for long‐term maintenance.
Danielle T. Morency, Tao Cui, Yimei Cai, Chloe Lok, Rachel E. Nokku, Ruoxian Huang, Grace L. Chu, Yumeng Xie, Saleem W. Abu‐Tayeh, Kaikai He, Chengjie Qiu, Junyi Wang, Paxton M. Paganelli, Ting Wang, Gabrielle Williams, Sreejith Nair, Huadong Pei, Dion K. Dickman, Stefano Vicini, Tingting Wang   +19 more
wiley   +1 more source

Visual attention in autism families: ‘unaffected’ sibs share atypical frontal activation [PDF]

, 2009
Background: In addition to their more clinically evident abnormalities of social cognition, people with autism spectrum conditions (ASC) manifest perturbations of attention and sensory perception which may offer insights into the underlying neural ...
Baron-Cohen, S, Belmonte, MK, Gomot, M
core   +1 more source

High‐Fidelity Synthetic Data Replicates Clinical Prediction Performance in a Million‐Patient Diabetes Cohort

Advanced Science, EarlyView.
This study generates high‐fidelity synthetic longitudinal records for a million‐patient diabetes cohort, successfully replicating clinical predictive performance. However, deeper analysis reveals algorithmic biases and trajectory inconsistencies that escape standard quality metrics. These findings challenge current validation norms, demonstrating why a
Francisco Ortuño, Víctor M. de la Oliva Roque, Javier‐Ignacio Ramirez‐Lopez, David P. Kreil, Joaquín Dopazo, Carlos Loucera   +5 more
wiley   +1 more source

AUTS-2 Syndrome. Gravity comparison of three cases: a case series and review of the literature

European Psychiatry, 2023
Introduction Haploinssufficiency of AUTS2 gene has been associated with a syndromic form of neurodevelopmental delay called AUTS2 Syndrome (AUTS2S). It is characterized for having attention/hyperactivity disorder (ADHD), autism spectrum disorder (ASD ...
L. Delgado, C. Manso, A. Ruiz, C. Forcelledo, G. Fucho, M. Pàmies, D. J. Palao   +6 more
doaj   +1 more source

Brief report : the level and nature of autistic intelligence revisited [PDF]

, 2008
Owing to higher performance on the Raven’s Progressive Matrices (RPM) than on the Wechsler Intelligence Scales (WIS), it has recently been argued that intelligence is underestimated in autism.
Bölte, Sven, Dziobek, Isabel, Poustka, Fritz   +2 more
core   +1 more source

Genetic Diagnosis and Discovery Enabled by Large Language Models

Advanced Science, EarlyView.
We demonstrate that large language models (LLMs) can facilitate genetic diagnosis and discovery. LLMs were used to solve four types of genetic problems of sequentially increased complexity. An LLM‐based pipeline could analyze genetic variants in the genomic sequences of human hearing loss or rare genetic disease patients and assist in identifying ...
Tao Tu, Khaled Saab, Weida Liu, Zhouqing Fang, Zhuanfen Cheng, Svetolik Spasic, Maja Djurisic, Hiroaki Mohri, Wenlong Ren, Anil Palepu, Juraj Gottweis, Alan Karthikesalingam, Kavita Kulkarni, Annalisa Pawlosky, Devon Bonner, Elijah Kravets, Shruti Marwaha, Hector R. Mendez, Matthew T. Wheeler, Jonathan A. Bernstein, Undiagnosed Diseases Network, Cheng‐Yu Tsai, Chen‐Chi Wu, Konstantina M. Stankovic, Vivek Natarajan, Gary Peltz   +25 more
wiley   +1 more source