Distinct, dosage-sensitive requirements for the autism-associated factor CHD8 during cortical development
ConclusionsTogether, these findings identify important, dosage-sensitive functions for CHD8 in p53 pathway repression, neurodevelopmental gene expression and neural progenitor fate in the embryonic neocortex. We conclude that brain development is acutely sensitive to reduced CHD8 expression and that the varying sensitivities of different progenitor populations and cellular processes to CHD8 dosage result in non-linear effects on gene transcription and brain growth.Shaun Hurley, Conor Mohan and Philipp Suetterlin have contributed equally to this work. (Source: Molecular Autism)
Source: Molecular Autism - February 24, 2021 Category: Molecular Biology Source Type: research

Oxytocin-induced increase in N , N -dimethylglycine and time course of changes in oxytocin efficacy for autism social core symptoms
ConclusionOur findings demonstrate an association ofN,N-dimethylglycine upregulation with the time-course change in the efficacy of oxytocin on autistic social deficits. Furthermore, the current findings support the involvement of theN-methyl-D-aspartate receptor and neural plasticity to the time-course change in oxytocin ’s efficacy.Trial registration: A multi-center, parallel-group, placebo-controlled, double-blind, confirmatory trial of intranasal oxytocin in participants with autism spectrum disorders (the date registered: 30 October 2014; UMIN Clinical Trials Registry:https://upload.umin.ac.jp/cgi-open-bin/ctr_e...
Source: Molecular Autism - February 23, 2021 Category: Molecular Biology Source Type: research

Modulation of atypical brain activation during executive functioning in autism: a pharmacological MRI study of tianeptine
ConclusionsOur findings provide the first evidence that tianeptine can shift atypical brain activation during EF in adults with ASD towards control levels. Future studies should investigate whether this shift in the biology of ASD is maintained after prolonged treatment with tianeptine and whether it improves clinical symptoms. (Source: Molecular Autism)
Source: Molecular Autism - February 19, 2021 Category: Molecular Biology Source Type: research

Is social camouflaging associated with anxiety and depression in autistic adults?
ConclusionsThe findings suggest that camouflaging is a risk factor for mental health problems in autistic adults without intellectual disability, regardless of gender. We also identified levels of camouflaging at which risk of mental health problems is highest, suggesting clinicians should be particularly aware of mental health problems in those who score at or above these levels. (Source: Molecular Autism)
Source: Molecular Autism - February 16, 2021 Category: Molecular Biology Source Type: research

Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank
ConclusionsWe report on common genetic variation and rare CNVs within the AAB. Prediction analyses using currently available GWAS summary statistics are largely consistent with expected relationships based on published studies. As the size of publicly-available GWAS summary statistics grows, the phenotypic depth of the AAB dataset will provide many opportunities for analyses of autism profiles and co-occurring conditions, including when integrated with other omics datasets generated from AAB biospecimens (blood, urine, stool, hair). (Source: Molecular Autism)
Source: Molecular Autism - February 10, 2021 Category: Molecular Biology Source Type: research

Modified CBT for social anxiety and social functioning in young adults with autism spectrum disorder
AbstractBackgroundThere is a strong research imperative to investigate effective treatment options for adolescents and adults with autism spectrum disorder (ASD). Elevated social anxiety, difficulties with social functioning and poor mental health have all been identified as core treatment targets for this group. While theoretical models posit a strong bidirectionality between social anxiety and ASD social functioning deficits, few interventions have targeted both domains concurrently. Of the two group interventions previously conducted with adolescents and adults with ASD, significant results have only been observed in ei...
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

Developmental vitamin D deficiency increases foetal exposure to testosterone
ConclusionsThis study is the first to show how an epidemiologically established environmental risk factor for ASD may selectively elevate testosterone in male embryonic brains. These findings provide further mechanistic support for the prenatal sex steroid theory of ASD. (Source: Molecular Autism)
Source: Molecular Autism - December 10, 2020 Category: Molecular Biology Source Type: research

Alpha connectivity and inhibitory control in adults with autism spectrum disorder
ConclusionsOur findings demonstrate reduced functional brain connectivity during response inhibition in adults with ASD. As alpha-band synchrony has been linked to top-down control mechanisms, we propose that the lack of alpha synchrony observed in our ASD group may reflect difficulties in suppressing task-irrelevant information, interfering with inhibition in real-life situations. (Source: Molecular Autism)
Source: Molecular Autism - December 7, 2020 Category: Molecular Biology Source Type: research

Combined frequency-tagging EEG and eye-tracking measures provide no support for the “excess mouth/diminished eye attention” hypothesis in autism
ConclusionsCombined eye-tracking and frequency-tagged neural responses show no support for the excess mouth/diminished eye gaze hypothesis in ASD. The more exploratory face scanning style observed in ASD might be related to their increased feature-based face processing style. (Source: Molecular Autism)
Source: Molecular Autism - November 23, 2020 Category: Molecular Biology Source Type: research

Meconium androgens are correlated with ASD-related phenotypic traits in early childhood in a familial enriched risk cohort
ConclusionsThis study supports the utility of meconium for studies of endogenous fetal metabolism and suggests the sex of older siblings with autism should be considered as a biological variable in relevant studies. (Source: Molecular Autism)
Source: Molecular Autism - November 23, 2020 Category: Molecular Biology Source Type: research

The eIF4E homolog 4EHP (eIF4E2) regulates hippocampal long-term depression and impacts social behavior
ConclusionsTogether these results demonstrate an important role of 4EHP in regulating hippocampal plasticity and ASD-associated social behaviors, consistent with the link between mutations inGIGYF2 and ASD. (Source: Molecular Autism)
Source: Molecular Autism - November 23, 2020 Category: Molecular Biology Source Type: research

High-throughput screening identifies histone deacetylase inhibitors that modulate GTF2I expression in 7q11.23 microduplication autism spectrum disorder patient-derived cortical neurons
ConclusionsThese results represent a unique opportunity for the development of a specific class of compounds for treating 7Dup and other forms of intellectual disability and autism. (Source: Molecular Autism)
Source: Molecular Autism - November 19, 2020 Category: Molecular Biology Source Type: research

No preference for direct versus averted gaze in autistic adults: a reinforced preferential looking paradigm
ConclusionsThe absence of preference for direct versus averted gaze in the autistic group is probably due to difficulties in distinguishing eye gaze direction, potentially linked to a reduced spontaneous exploration or avoidance of the eye region. Social attention and preference for direct versus averted gaze correlated with alexithymia and social anxiety scores, but not gender. (Source: Molecular Autism)
Source: Molecular Autism - November 18, 2020 Category: Molecular Biology Source Type: research

Common and unique multimodal covarying patterns in autism spectrum disorder subtypes
ConclusionsAlthough ASD has a common neural basis with core deficits linked to social interaction, each ASD subtype is strongly linked to unique brain systems and subdomain symptoms, which may help to better understand the underlying mechanisms of ASD heterogeneity from a multimodal neuroimaging perspective.LimitationsThis study is male based, which cannot be generalized to the female or the general ASD population. (Source: Molecular Autism)
Source: Molecular Autism - November 18, 2020 Category: Molecular Biology Source Type: research

Altered synaptic ultrastructure in the prefrontal cortex of Shank3-deficient rats
ConclusionsWe observed increased HD and PSD area inShank3-Het rats. These observations suggest the occurrence of altered synaptic ultrastructure in this animal model, further pointing to a key role of defective expression of the Shank3 protein in ASD and Phelan –McDermid syndrome. (Source: Molecular Autism)
Source: Molecular Autism - November 17, 2020 Category: Molecular Biology Source Type: research

Differentially altered social dominance- and cooperative-like behaviors in Shank2 - and Shank3 -mutant mice
ConclusionsOur results underscore the heterogeneity of social behavioral alterations in different ASD mouse models and highlight the utility of testing complex social behaviors in validating neurodevelopmental and neuropsychiatric disorder models. In addition, neural activities at distinct brain regions are likely collectively involved in eliciting complex social behaviors, which are differentially altered in ASD mouse models. (Source: Molecular Autism)
Source: Molecular Autism - October 30, 2020 Category: Molecular Biology Source Type: research

Gray matter covariations and core symptoms of autism: the EU-AIMS Longitudinal European Autism Project
ConclusionsCovaried areas associated with autism diagnosis and/or symptoms are scattered across the whole brain and include the limbic system, basal ganglia, thalamus, cerebellum, precentral gyrus, and parts of the frontal, parietal, and occipital lobes. Some of these areas potentially subserve social-communicative behavior, whereas others may underpin sensory processing and integration, and motor behavior. (Source: Molecular Autism)
Source: Molecular Autism - October 30, 2020 Category: Molecular Biology Source Type: research

Targeting of δ-catenin to postsynaptic sites through interaction with the Shank3 N-terminus
ConclusionsOur data show that the interaction between Shank3 N-terminus and δ-catenin is required for the postsynaptic targeting of δ-catenin. Failure of proper targeting of δ-catenin to postsynaptic sites may contribute to the pathogenesis of autism spectrum disorder. (Source: Molecular Autism)
Source: Molecular Autism - October 28, 2020 Category: Molecular Biology Source Type: research

Physical health of autistic girls and women: a scoping review
ConclusionsThe emerging literature suggests that autistic girls/women have heightened rates of physical health challenges compared to non-autistic girls/women and to autistic boys/men. Clinicians should seek to provide holistic care that includes a focus on physical health and develop a women ’s health lens when providing clinical care to autistic girls/women. (Source: Molecular Autism)
Source: Molecular Autism - October 27, 2020 Category: Molecular Biology Source Type: research

Face individual identity recognition: a potential endophenotype in autism
ConclusionsImpaired face individual identity recognition meets the criteria to be a potential endophenotype in autism. In the future, testing for face memory could be used to stratify autistic individuals into genetically meaningful subgroups and be translatable to autism animal models. (Source: Molecular Autism)
Source: Molecular Autism - October 21, 2020 Category: Molecular Biology Source Type: research

Brain function distinguishes female carriers and non-carriers of familial risk for autism
ConclusionsThese methods confirmed pronounced neural signatures that differentiate brain responses to biological and scrambled motion. Our sample of undiagnosed females enriched for family genetic loading enabled discovery of numerous contrasts between carriers and non-carriers of risk of ASD that may index variations in visual attention and motion processing related to genetic susceptibility and inform our understanding of mechanisms incurred by inherited liability for ASD. (Source: Molecular Autism)
Source: Molecular Autism - October 20, 2020 Category: Molecular Biology Source Type: research

Imbalance of laminar-specific excitatory and inhibitory circuits of the orbitofrontal cortex in autism
ConclusionsThe balance between excitation and inhibition in OFC is at the core of its function, assessing and integrating emotional and social cues with internal states and external inputs. Our preliminary results provide evidence for laminar-specific changes in the ratio of excitation/inhibition in OFC of adults with ASD, with an overall weakening and likely disorganization of excitatory signals and a relative strengthening of local inhibition. These changes likely underlie pathology of major OFC communications with limbic or other cortices and the amygdala in individuals with ASD, and may provide the anatomic basis for d...
Source: Molecular Autism - October 20, 2020 Category: Molecular Biology Source Type: research

Pharmacological intervention to restore connectivity deficits of neuronal networks derived from ASD patient iPSC with a TSC2 mutation
ConclusionsOur observations suggest that there is a reduction in the network connectivity of the in vitro neuronal network associated with ASD patients withTSC2 mutation, which may arise via an excitatory/inhibitory imbalance due to increased GABA-signalling at inhibitory synapses. This abnormality can be effectively suppressed via activation of ULK1. (Source: Molecular Autism)
Source: Molecular Autism - October 19, 2020 Category: Molecular Biology Source Type: research

Social attention to activities in children and adults with autism spectrum disorder: effects of context and age
AbstractBackgroundDiminished visual monitoring of faces and activities of others is an early feature of autism spectrum disorder (ASD). It is uncertain whether deficits in activity monitoring, identified using a homogeneous set of stimuli, persist throughout the lifespan in ASD, and thus, whether they could serve as a biological indicator ( “biomarker”) of ASD. We investigated differences in visual attention during activity monitoring in children and adult participants with autism compared to a control group of participants without autism.MethodsEye movements of participants with autism (n = 122; ...
Source: Molecular Autism - October 19, 2020 Category: Molecular Biology Source Type: research

White matter alterations in autism spectrum disorder and attention-deficit/hyperactivity disorder in relation to sensory profile
ConclusionsThese results indicate that white matter alteration and their relationships to sensory symptoms are largely shared between ASD and ADHD, with localized abnormalities showing significant between-diagnosis differences within DD. (Source: Molecular Autism)
Source: Molecular Autism - October 19, 2020 Category: Molecular Biology Source Type: research

Ribosome profiling in mouse hippocampus: plasticity-induced regulation and bidirectional control by TSC2 and FMRP
ConclusionThese results suggest a molecular basis for bidirectional regulation of synaptic plasticity and behavior by TSC2 and FMRP. Our study also suggests that altered mGluR-regulated translation elongation contributes to impaired synaptic plasticity inTsc2+/ − mice. (Source: Molecular Autism)
Source: Molecular Autism - October 14, 2020 Category: Molecular Biology Source Type: research

De novo missense variants disrupting protein –protein interactions affect risk for autism through gene co-expression and protein networks in neuronal cell types
ConclusionsDisrupted protein interactions identify gene sets involved in risk for ASD. Their gene expression during brain development and within cell types highlights how they relate to ASD. (Source: Molecular Autism)
Source: Molecular Autism - October 8, 2020 Category: Molecular Biology Source Type: research

Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder
ConclusionsASD RIGs were functionally associated with DNGs; however, they exhibited higher heterogeneity than DNGs. (Source: Molecular Autism)
Source: Molecular Autism - October 5, 2020 Category: Molecular Biology Source Type: research

Chd8 haploinsufficiency impairs early brain development and protein homeostasis later in life
ConclusionsCollectively, these data suggest that UPR/ER stress pathways are reduced in the cerebral cortex of agedChd8V986*/+ mice. Our study uncovers neurodevelopmental and age-related phenotypes inChd8V986*/+ mice and highlights the importance of controlling for age when studyingChd8 haploinsufficient mice. (Source: Molecular Autism)
Source: Molecular Autism - October 4, 2020 Category: Molecular Biology Source Type: research

Autistic traits, systemising, empathising, and theory of mind in transgender and non-binary adults
ConclusionsThe current findings suggest a “masculinised” autism-related profile and reduced ToM in transgender men and in non-binary AFAB. These findings might be interpreted to support the extreme male brain theory of autism and the mindblindness theory. Further research is needed to corroborate these findings. (Source: Molecular Autism)
Source: Molecular Autism - September 28, 2020 Category: Molecular Biology Source Type: research

Differential mirror neuron system (MNS) activation during action observation with and without social-emotional components in autism: a meta-analysis of neuroimaging studies
ConclusionThe MNS is impaired in ASD. The abnormal activation patterns were found to be modulated by the nature of stimuli and age, which might explain the contradictory results from earlier studies on the “broken mirror neuron” debate. (Source: Molecular Autism)
Source: Molecular Autism - September 28, 2020 Category: Molecular Biology Source Type: research

Enhanced social learning of threat in adults with autism
ConclusionsThe enhanced social threat learning in individuals with ASD may be linked to difficulties using visual attention and mental state attributions to downregulate their emotion. (Source: Molecular Autism)
Source: Molecular Autism - September 21, 2020 Category: Molecular Biology Source Type: research

Assessing the requirements of prenatal UBE3A expression for rescue of behavioral phenotypes in a mouse model for Angelman syndrome
ConclusionsOur findings provide further important insights in the requirement of UBE3A expression during brain development. We found that loss of up to 50% of UBE3A protein during prenatal mouse brain development does not significantly impact the assessed mouse behavioral phenotypes. Together with previous findings, our results indicate that the most critical function for mouse UBE3A lies in the early postnatal period between birth and P21. (Source: Molecular Autism)
Source: Molecular Autism - September 17, 2020 Category: Molecular Biology Source Type: research

Autism spectrum disorder at the crossroad between genes and environment: contributions, convergences, and interactions in ASD developmental pathophysiology
AbstractThe complex pathophysiology of autism spectrum disorder encompasses interactions between genetic and environmental factors. On the one hand, hundreds of genes, converging at the functional level on selective biological domains such as epigenetic regulation and synaptic function, have been identified to be either causative or risk factors of autism. On the other hand, exposure to chemicals that are widespread in the environment, such as endocrine disruptors, has been associated with adverse effects on human health, including neurodevelopmental disorders. Interestingly, experimental results suggest an overlap in the ...
Source: Molecular Autism - September 9, 2020 Category: Molecular Biology Source Type: research

Autism-associated variants of neuroligin 4X impair synaptogenic activity by various molecular mechanisms
ConclusionsThese data suggest that reduced amounts of the functional NL4X protein on the cell surface is a common mechanism by which point mutants of the NL4X protein cause psychiatric disorders, although different molecular mechanisms are thought to be involved. Furthermore, these results highlight that the precision medicine approach based on genetic and cell biological analyses is important for the development of therapeutics for psychiatric disorders. (Source: Molecular Autism)
Source: Molecular Autism - August 31, 2020 Category: Molecular Biology Source Type: research

Dissecting the phenotypic heterogeneity in sensory features in autism spectrum disorder: a factor mixture modelling approach
ConclusionSensory features can be best described by three homogeneous sensory subgroups that differ in sensory severity gradients along seven continuous factor scores. Identified sensory subgroups were further differentiated by the severity of core and co-occurring symptoms, and level of adaptive functioning, providing novel evidence on the associated clinical correlates of sensory subgroups. These sensory subgroups provide a platform to further interrogate the neurobiological and genetic correlates of altered sensory processing in ASD. (Source: Molecular Autism)
Source: Molecular Autism - August 30, 2020 Category: Molecular Biology Source Type: research