Future prospects for epigenetics in autism spectrum disorder

LA Williams, JM LaSalle - Molecular Diagnosis & Therapy, 2022 - Springer
Despite decades of investigation into the genetics of autism spectrum disorder (ASD), a
current consensus in the field persists that ASD risk is too heterogeneous to be diagnosed …

Heterogeneity thwarts autism explanatory power: A proposal for endophenotypes

L Waterhouse - Frontiers in psychiatry, 2022 - frontiersin.org
Many researchers now believe that autism heterogeneity is likely to include many disorders,
but most research is based on samples defined by the DSM-5 Autism Spectrum Disorder …

Functional and molecular characterization of a non-human primate model of autism spectrum disorder shows similarity with the human disease

S Watanabe, T Kurotani, T Oga, J Noguchi… - Nature …, 2021 - nature.com
Autism spectrum disorder (ASD) is a multifactorial disorder with characteristic synaptic and
gene expression changes. Early intervention during childhood is thought to benefit …

[HTML][HTML] Overlapping molecular pathways leading to autism spectrum disorders, fragile X syndrome, and targeted treatments

MJ Salcedo-Arellano, AM Cabal-Herrera, RH Punatar… - …, 2021 - Elsevier
Autism spectrum disorders (ASD) are subdivided into idiopathic (unknown) etiology and
secondary, based on known etiology. There are hundreds of causes of ASD and most of …

Using machine learning to explore shared genetic pathways and possible endophenotypes in autism spectrum disorder

D Di Giovanni, R Enea, V Di Micco, A Benvenuto… - Genes, 2023 - mdpi.com
Autism spectrum disorder (ASD) is a heterogeneous condition, characterized by complex
genetic architectures and intertwined genetic/environmental interactions. Novel analysis …

The alteration of chloride homeostasis/GABAergic signaling in brain disorders: could oxidative stress play a role?

PM Abruzzo, C Panisi, M Marini - Antioxidants, 2021 - mdpi.com
In neuronal precursors and immature neurons, the depolarizing (excitatory) effect of γ-
Aminobutyric acid (GABA) signaling is associated with elevated [Cl−] i; as brain cells mature …

Medial prefrontal cortex circuitry and social behaviour in autism

DH Mediane, S Basu, EN Cahill, PG Anastasiades - Neuropharmacology, 2024 - Elsevier
Autism spectrum disorder (ASD) has proven to be highly enigmatic due to the diversity of its
underlying genetic causes and the huge variability in symptom presentation. Uncovering …

Social cognition in 22q11. 2 deletion syndrome and idiopathic developmental neuropsychiatric disorders

R Jalal, A Nair, A Lin, A Eckfeld, L Kushan… - Journal of …, 2021 - Springer
Abstract Background 22q11. 2 deletion syndrome (22q11DS) is a common recurrent
neurogenetic condition associated with elevated risk for developmental neuropsychiatric …

Neurodevelopmental atypisms in the context of joint hypermobility, hypermobility spectrum disorders, and Ehlers–Danlos syndromes

C Baeza‐Velasco - American Journal of Medical Genetics Part …, 2021 - Wiley Online Library
Joint hypermobility (JHM), defined as an increased range of joint motion, is a frequent
somatic trait in the general population but also the hallmark of many of the hereditary …

Objective frequency analysis of transient visual evoked potentials in autistic children

C Brittenham, J Gordon, VM Zemon… - Autism Research, 2022 - Wiley Online Library
Visual evoked potentials (VEPs) provide a means to examine neural mechanisms in autism
with high temporal resolution. Conventional VEP analysis relies on subjective inspection of …