Results 71 to 80 of about 827,442 (390)
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023 Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei +4 more
wiley +1 more source
Linguistic markers of autism in girls: evidence of a “blended phenotype” during storytelling
Molecular Autism, 2019 Background Narrative abilities are linked to social impairment in autism spectrum disorder (ASD), such that reductions in words about cognitive processes (e.g., think, know) are thought to reflect underlying deficits in social cognition, including Theory
Jaclin Boorse +6 more
doaj +1 more source
Prospective and detailed behavioral phenotyping in DDX3X syndrome
Molecular Autism, 2021 Background DDX3X syndrome is a recently identified genetic disorder that accounts for 1–3% of cases of unexplained developmental delay and/or intellectual disability (ID) in females, and is associated with motor and language delays, and autism spectrum ...
Lara Tang +19 more
doaj +1 more source
Social Difficulties in Youth with Autism With and Without Anxiety and ADHD Symptoms [PDF]
, 2018 Social difficulties inherent to autism spectrum disorder are often linked with co‐occurring symptoms of anxiety and attention deficit hyperactivity disorder (ADHD).
Carlson, Mary E. +12 more
core +2 more sources
Elevated fetal steroidogenic activity in autism [PDF]
, 2014 Autism affects males more than females, giving rise to the idea that the influence of steroid hormones on early fetal brain development may be one important early biological risk factor.
Abdallah, M W +9 more
core +1 more source
The Neuropathology of Autism [PDF]
Scientifica, 2012 Autism is a behaviorally defined neurodevelopmental disorder that affects over 1% of new births in the United States and about 2% of boys. The etiologies are unknown and they are genetically complex. There may be epigenetic effects, environmental influences, and other factors that contribute to the mechanisms and affected neural pathway(s).
openaire +3 more sources
Diagnosis of autism in adulthood: A scoping review
Autism, 2020 More adults are undergoing autism assessment due to recent changes in awareness, diagnostic criteria and professional practices. This scoping review aimed to summarise research on autism diagnosis in adulthood and identify any gaps for future study.
Yunhe Huang +3 more
semanticscholar +1 more source
Advanced Science, EarlyView.This study identifies DEC2 as a critical transcriptional repressor of Scn2a that directly binds E‐box motifs in its promoter to regulate neuronal plasticity and epileptogenesis. Functional manipulation of DEC2 alters seizure susceptibility in vivo. Cannabidiol enhances this repression, unveiling a novel DEC2‐SCN2A axis underlying its anticonvulsant ...
Huifang Song +24 more
wiley +1 more source
Frontiers in Integrative Neuroscience, 2013 There is increasing evidence to show that indicators other than socio-cognitive abilities might predict communicative function in Autism Spectrum Disorders (ASD).
Katherine eSullivan +4 more
doaj +1 more source
Large scale validation of an early-age eye-tracking biomarker of an autism spectrum disorder subtype
Scientific Reports, 2022 Few clinically validated biomarkers of ASD exist which can rapidly, accurately, and objectively identify autism during the first years of life and be used to support optimized treatment outcomes and advances in precision medicine.
Teresa H. Wen +10 more
doaj +1 more source