Modified CBT for social anxiety and social functioning in young adults with autism spectrum disorder
ConclusionsThese findings indicate that a group CBT intervention appears to be a beneficial intervention for self-reported social anxiety, social functioning and overall mental health in adolescents and young adults with ASD. The stand-alone nature of the intervention combined with positive participant feedback indicates it was well tolerated, has potential clinical utility and warrants further study in a randomised-controlled, follow-up design. (Source: Molecular Autism)
Source: Molecular Autism - February 8, 2021 Category: Molecular Biology Source Type: research
Mind the translational gap: using iPS cell models to bridge from genetic discoveries to perturbed pathways and therapeutic targets
AbstractAutism spectrum disorder (ASD) comprises a group of neurodevelopmental disorders characterized by impaired social interactions as well as the presentation of restrictive and repetitive behaviors. ASD is highly heritable but genetically heterogenous with both common and rare genetic variants collaborating to predispose individuals to the disorder. In this review, we synthesize recent efforts to develop human induced pluripotent stem cell (iPSC)-derived models of ASD-related phenotypes. We firstly address concerns regarding the relevance and validity of available neuronal iPSC-derived models. We then critically evalu...
Source: Molecular Autism - February 8, 2021 Category: Molecular Biology Source Type: research
Abnormal electrophysiological phenotypes and sleep deficits in a mouse model of Angelman Syndrome
ConclusionsOur data enhance rigor and translatability as our study provides important corroboration of previous reports on epileptiform and elevated delta power. For the first time we report neurophysiological phenotypes collected via translational methodology. Furthermore, this is the first report of reduced sleep spindles, a critical marker of memory consolidation during sleep, in an AS model. Our results are useful outcomes for therapeutic testing. (Source: Molecular Autism)
Source: Molecular Autism - February 6, 2021 Category: Molecular Biology Source Type: research
Touch and olfaction/taste differentiate children carrying a 16p11.2 deletion from children with ASD
ConclusionsTouch and olfaction/taste seem to be particularly affected in ASD children compared to del16p11.2. These results indicate that parent report measures can provide a useful perspective on behavioral expression. Sensory phenotyping, when combined with neurobiological and psychophysical methods, might have the potential to provide a better understanding of the sensory processing in ASD and in other NDD. (Source: Molecular Autism)
Source: Molecular Autism - February 5, 2021 Category: Molecular Biology Source Type: research
Correction to: Absence of parvalbumin increases mitochondria volume and branching of dendrites in inhibitory Pvalb neurons in vivo: a point of convergence of autism spectrum disorder (ASD) risk gene phenotypes
An amendment to this paper has been published and can be accessed via the original article. (Source: Molecular Autism)
Source: Molecular Autism - February 5, 2021 Category: Molecular Biology Source Type: research
Cannabinoid treatment for autism: a proof-of-concept randomized trial
ConclusionsThis interventional study provides evidence that BOL-DP-O-01-W and BOL-DP-O-01, administrated for 3 months, are well tolerated. Evidence for efficacy of these interventions are mixed and insufficient. Further testing of cannabinoids in ASD is recommended.Trial registration ClinicalTrials.gov: NCT02956226. Registered 06 November 2016,https://clinicaltrials.gov/ct2/show/NCT02956226 (Source: Molecular Autism)
Source: Molecular Autism - February 3, 2021 Category: Molecular Biology Source Type: research
Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism
ConclusionsSeveral canonical PTEN pathway molecules appear to influence the presence of ASD and modify neurobehavioral function inPTEN mutation patients. Protein assays of the PTEN pathway may be useful for predicting neurobehavioral outcomes in PTEN patients. Future longitudinal analyses are needed to replicate these findings and evaluate within-group relationships between protein and neurobehavioral measures.Trial registrationClinicalTrials.gov Identifier NCT02461446 (Source: Molecular Autism)
Source: Molecular Autism - January 28, 2021 Category: Molecular Biology Source Type: research
Application of Airy beam light sheet microscopy to examine early neurodevelopmental structures in 3D hiPSC-derived human cortical spheroids
ConclusionWe present an optimized methodology that takes advantage of an ALSM system that can rapidly image intact 3D brain organoids at high resolution while retaining a large field of view. This imaging modality can be applied to both non-cleared and cleared in vitro human brain spheroids derived from hiPSCs for precise examination of their internal 3D structures. This process represents a rapid, highly efficient method to examine and quantify in 3D the formation of key structures required for the coordination of neurodevelopmental processes in both health and disease states. We posit that this approach would facilitate ...
Source: Molecular Autism - January 22, 2021 Category: Molecular Biology Source Type: research
Autistic traits and individual brain differences: functional network efficiency reflects attentional and social impairments, structural nodal efficiencies index systemising and theory-of-mind skills
ConclusionsFunctional connectivities highlight distributed networks associated with domain-general properties such as attentional orienting and social cognition broadly, associating more impaired behaviour with more efficient brain networks that may reflect heightened feedforward information flow subserving autistic strengths and deficits alike. Structural connectivity results highlight specific anatomical nodes of convergence, reflecting cognitive and neuroanatomical independence of systemising and theory-of-mind. In addition, this work shows that individual differences in theory-of-mind related to brain structure can be ...
Source: Molecular Autism - January 21, 2021 Category: Molecular Biology Source Type: research
Major motor and gait deficits with sexual dimorphism in a Shank3 mutant mouse model
ConclusionsOur findings indicate that several behavioral, cellular, and molecular parameters are affected in this animal model. The reported deficits are more pronounced in males than in females. Additionally, male Shank3 ΔC/ΔC mice show more pronounced alterations than Shank3+/ΔC. Together with our previous findings in two environmental animal models of ASD, our studies indicate that gait dysfunction constitutes a robust set of motor ASD symptoms that may be considered for implementation in clinical settings as a n early and quantitative diagnosis criteria. (Source: Molecular Autism)
Source: Molecular Autism - January 19, 2021 Category: Molecular Biology Source Type: research
Targeting the RHOA pathway improves learning and memory in adult Kctd13 and 16p11.2 deletion mouse models
ConclusionThese findings confirm KCTD13 as one target gene causing cognitive deficits in 16p11.2 deletion patients, and the relevance of the RHOA pathway as a therapeutic path for 16p11.2 deletion. In addition, they reinforce the contribution of other gene(s) involved in cognitive defects found in the 16p11.2 models in older mice. (Source: Molecular Autism)
Source: Molecular Autism - January 13, 2021 Category: Molecular Biology Source Type: research
Left hemispheric deficit in the sustained neuromagnetic response to periodic click trains in children with ASD
ConclusionChildren with ASD demonstrate atypical processing of spectrally complex periodic sound at the level of the core auditory cortex of the left-hemisphere. The observed neural deficit may contribute to speech perception difficulties experienced by children with ASD, including their poor perception and production of linguistic prosody. (Source: Molecular Autism)
Source: Molecular Autism - December 31, 2020 Category: Molecular Biology Source Type: research
Gene functional networks and autism spectrum characteristics in young people with intellectual disability: a dimensional phenotyping study
ConclusionWe report that gene functional networks can predict Inflexibility, but not other ASC dimensions. Contrasting behavioural associations within each group suggest network-specific developmental pathways from genomic variation to autism. Simple classification of neurodevelopmental disorder genes as high risk or low risk for autism is unlikely to be valid or useful. (Source: Molecular Autism)
Source: Molecular Autism - December 11, 2020 Category: Molecular Biology Source Type: research
Evidence for the placenta-brain axis: multi-omic kernel aggregation predicts intellectual and social impairment in children born extremely preterm
ConclusionsAggregating information from biomarkers within and among molecular data types improves prediction of complex traits like social and intellectual ability in children born extremely preterm, suggesting that traits within the placenta-brain axis may be omnigenic. (Source: Molecular Autism)
Source: Molecular Autism - December 11, 2020 Category: Molecular Biology Source Type: research
Human stem cell-based models for studying autism spectrum disorder-related neuronal dysfunction
AbstractThe controlled differentiation of pluripotent stem cells (PSCs) into neurons and glia offers a unique opportunity to study early stages of human central nervous system development under controlled conditions in vitro. With the advent of cell reprogramming and the possibility to generate induced pluripotent stem cells (iPSCs) from any individual in a scalable manner, these studies can be extended to a disease- and patient-specific level. Autism spectrum disorder (ASD) is considered a neurodevelopmental disorder, with substantial evidence pointing to early alterations in neurogenesis and network formation as key path...
Source: Molecular Autism - December 11, 2020 Category: Molecular Biology Source Type: research
