Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz +3 more
wiley +1 more source
Autism as a disorder of neural information processing: directions for research and targets for therapy [PDF]
The broad variation in phenotypes and severities within autism spectrum disorders suggests the involvement of multiple predisposing factors, interacting in complex ways with normal developmental courses and gradients. Identification of these factors, and
A Klin +197 more
core +1 more source
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
Uptake and Diagnostic Yield of Chromosomal Microarray in an Australian Child Development Clinic
Autism is an etiologically heterogeneous developmental disorder for which the range of genetic investigations has expanded considerably over the past decade.
Dylan Mordaunt +4 more
doaj +1 more source
A comparison of the development of audiovisual integration in children with autism spectrum disorders and typically developing children [PDF]
This study aimed to investigate the development of audiovisual integration in children with Autism Spectrum Disorder (ASD). Audiovisual integration was measured using the McGurk effect in children with ASD aged 7–16 years and typically developing ...
A Karmiloff-Smith +32 more
core +1 more source
Sex Representation in US Stroke Clinical Trials: A Decade of Trends and Challenges
ABSTRACT Objective Stroke remains a major cause of disability and mortality in the US, with significant sex‐based disparities, and females remain underrepresented in stroke clinical trials. We aimed to examine sex representation in US‐based stroke clinical trials, identify trial characteristics associated with higher female enrollment (≥ 50%), and ...
Chaitali Dagli +5 more
wiley +1 more source
Background It is estimated that world-wide up to 20 % of children suffer from debilitating mental illness. Mental disorders that pose a significant concern include learning disorders, hyperkinetic disorders (ADHD), depression, psychosis, pervasive ...
Ambikile Joel, Outwater Anne
doaj +1 more source
Confirmatory factor analysis of the Adult Asperger Assessment: The association of symptom domains within a clinical population [PDF]
Autism Spectrum Disorder (ASD) is a behaviourally defined disorder characterised by impairments in three domains of social interaction, communication, and repetitive, stereotyped behaviours and activities.
Kuenssberg, Renate, McKenzie, Karen
core +1 more source
Nano‐ and Micro‐Sized Solid Materials Used as Antiviral Agents
Due to the rise of viral infections in humans and possible viral outbreaks, the use of nano‐ or micro‐sized materials as antiviral agents is rapidly increasing. This review explores their antiviral properties against RNA and DNA viruses, either as a prevention or a treatment tool, by delving into their mechanisms of action and how to properly assess ...
Orfeas‐Evangelos Plastiras +6 more
wiley +1 more source
Objetivo: mapear a produção científica e criar um portfólio bibliográfico sobre o desenvolvimento de tecnologias educativas e assistivas para crianças com transtorno do espectro autista.
Daniele Mesquita Batista +5 more
doaj +1 more source

