Heterogeneity of autism characteristics in genetic syndromes: Key considerations for assessment and support
Abstract Purpose of Review Elevated prevalence of autism characteristics is reported in
genetic syndromes associated with intellectual disability. This review summarises recent …
genetic syndromes associated with intellectual disability. This review summarises recent …
The use of eye-tracking technology as a tool to evaluate social cognition in people with an intellectual disability: a systematic review and meta-analysis
Background Relatively little is known about social cognition in people with intellectual
disability (ID), and how this may support understanding of co-occurring autism. A limitation of …
disability (ID), and how this may support understanding of co-occurring autism. A limitation of …
[HTML][HTML] Visual attention patterns during a gaze following task in neurogenetic syndromes associated with unique profiles of autistic traits: fragile X and Cornelia de …
Background Gaze following difficulties are considered an early marker of autism, thought
likely to cumulatively impact the development of social cognition, language and social skills …
likely to cumulatively impact the development of social cognition, language and social skills …
[HTML][HTML] Behavioural and physiological indicators of anxiety reflect shared and distinct profiles across individuals with neurogenetic syndromes
Anxiety is heightened in individuals with intellectual disability, particularly in those with
specific neurogenetic syndromes. Assessment of anxiety for these individuals is hampered …
specific neurogenetic syndromes. Assessment of anxiety for these individuals is hampered …
Differential item functioning in the autism behavior checklist in children with autism spectrum disorder based on a machine learning approach
K Peng, M Chen, L Zhou, X Weng - Frontiers in Psychiatry, 2024 - frontiersin.org
Aim Our study utilized the Rasch analysis to examine the psychometric properties of the
Autism Behavior Checklist (ABC) in children with autism spectrum disorder (ASD). Methods …
Autism Behavior Checklist (ABC) in children with autism spectrum disorder (ASD). Methods …
[HTML][HTML] Comparison of autism domains across thirty rare variant genotypes
NMH Ali, SJRA Chawner, L Kushan-Wells… - …, 2025 - thelancet.com
Background A number of Neurodevelopmental risk Copy Number Variants (ND-CNVs) and
Single Gene Variants (SGVs) are strongly linked to elevated likelihood of autism. However …
Single Gene Variants (SGVs) are strongly linked to elevated likelihood of autism. However …
Synapse and primary cilia dysfunctions in Autism Spectrum Disorders. Avenues to normalize these functions
JJ Hauw, C Hausser-Hauw, C Barthélémy - Revue Neurologique, 2024 - Elsevier
Aim An update on the plasticity of the brain networks involved in autism (autism spectrum
disorders [ASD]), and the increasing role of their synapses and primary non-motile cilia …
disorders [ASD]), and the increasing role of their synapses and primary non-motile cilia …
Autism Spectrum Disorder Symptom Profiles in Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex and Neurofibromatosis Type 1
K Lubbers, KR Hiralal, GC Dieleman… - Journal of Autism and …, 2024 - Springer
Abstract Studying Autism Spectrum Disorder (ASD) heterogeneity in biologically
homogeneous samples may increase our knowledge of ASD etiology. Fragile X syndrome …
homogeneous samples may increase our knowledge of ASD etiology. Fragile X syndrome …
Behaviours that challenge in SATB2-associated syndrome: correlates of self-injury, aggression and property destruction
Abstract SATB2-associated syndrome (SAS) is a genetic syndrome characterised by
intellectual disability, severe speech delay, and palatal and dental problems. Behaviours …
intellectual disability, severe speech delay, and palatal and dental problems. Behaviours …
Identification of Smith–Magenis syndrome cases through an experimental evaluation of machine learning methods
R Fernández-Ruiz, E Núñez-Vidal… - Frontiers in …, 2024 - frontiersin.org
This research work introduces a novel, nonintrusive method for the automatic identification
of Smith–Magenis syndrome, traditionally studied through genetic markers. The method …
of Smith–Magenis syndrome, traditionally studied through genetic markers. The method …