Targeting PPAR α in the rat valproic acid model of autism: focus on social motivational impairment and sex-related differences
ConclusionsThe results support the involvement of impaired motivational mechanisms in ASD-like social deficits and suggest the rationale for a possible pharmacological treatment. Moreover, the study highlights sex-related differences in the expression of ASD-like symptoms and their differential responses to FBR treatment. (Source: Molecular Autism)
Source: Molecular Autism - July 27, 2020 Category: Molecular Biology Source Type: research

Coping, fostering resilience, and driving care innovation for autistic people and their families during the COVID-19 pandemic and beyond
AbstractThe new coronavirus disease (COVID-19) pandemic is changing how society operates. Environmental changes, disrupted routines, and reduced access to services and social networks will have a unique impact on autistic individuals and their families and will contribute to significant deterioration in some. Access to support is crucial to address vulnerability factors, guide adjustments in home environments, and apply mitigation strategies to improve coping. The current crisis highlights that our regular care systems are not sufficient to meet the needs of the autism communities. In many parts of the world, people have s...
Source: Molecular Autism - July 22, 2020 Category: Molecular Biology Source Type: research

Does decreased visual attention to faces underlie difficulties interpreting eye gaze cues in autism?
ConclusionsReduced visual attention to faces does not appear to contribute to atypical processing of eye gaze cues among adolescents with ASD. Instead, the difficulty for individuals with ASD is related to understanding the social communicative aspects of eye gaze information, which may not be extracted from visual cues alone. (Source: Molecular Autism)
Source: Molecular Autism - July 21, 2020 Category: Molecular Biology Source Type: research

Cerebral organoids as tools to identify the developmental roots of autism
AbstractSome autism spectrum disorders (ASD) likely arise as a result of abnormalities during early embryonic development of the brain. Studying human embryonic brain development directly is challenging, mainly due to ethical and practical constraints. However, the recent development of cerebral organoids provides a powerful tool for studying both normal human embryonic brain development and, potentially, the origins of neurodevelopmental disorders including ASD. Substantial evidence now indicates that cerebral organoids can mimic normal embryonic brain development and neural cells found in organoids closely resemble their...
Source: Molecular Autism - July 13, 2020 Category: Molecular Biology Source Type: research

Empathic disequilibrium in two different measures of empathy predicts autism traits in neurotypical population
ConclusionsOur study offers a novel perspective on the understanding of the social difficulties associated with autism tendencies in the general population and has potentially important clinical implications for understanding of ASC. We also propose a novel characterization of autism tendencies based on the imbalance between EE and CE, which we term ED, as opposed to examining EE and CE separately. (Source: Molecular Autism)
Source: Molecular Autism - July 13, 2020 Category: Molecular Biology Source Type: research

Gender identity, sexual orientation and adverse sexual experiences in autistic females
This study aimed to investigate the representation of gender and sexual diversity within autistic females and examine their rates of regretted, and unwanted, sexual encounters among females with a transgender gender identity and non-heterosexual sexual orientation.MethodsTwo hundred and ninety-five females completed the Sexual Behaviour Scale-III (SBS-III) online. Self-reported gender identity and sexual orientation were compared between 134 autistic (Mage= 26.2  years, SD= 8.7) and 161 non-autistic females (Mage = 22.0  years, SD = 4.6). Differences in the prevalence of negative sexual experiences were compa...
Source: Molecular Autism - July 11, 2020 Category: Molecular Biology Source Type: research

Reduced auditory steady state responses in autism spectrum disorder
ConclusionOverall, our results support a specific reduction in ASSR oscillatory power and inter-trial coherence in ASD, rather than a generalised deficit in gamma-band responses. We argue that this could reflect a developmentally relevant reduction in non-linear neural processing. (Source: Molecular Autism)
Source: Molecular Autism - July 1, 2020 Category: Molecular Biology Source Type: research

IGF-1 treatment causes unique transcriptional response in neurons from individuals with idiopathic autism
ConclusionsThe results presented in this study provide an important resource for researchers in the ASD field and underscore the necessity of using ASD patient lines to explore ASD neuronal-specific responses to drugs such as IGF-1. This study further helps to identify candidate pathways and targets for effective clinical intervention and may help to inform clinical trials in the future. (Source: Molecular Autism)
Source: Molecular Autism - June 26, 2020 Category: Molecular Biology Source Type: research

Advanced paternal age as a risk factor for neurodevelopmental disorders: a translational study
This study demonstrates associations between APA and social behaviors across species. They might be driven by changes in the expression of microRNAs and/or epigenetic changes regulating neuronal plasticity, leading to brain morphological changes and fronto-hippocampal connectivity, a network which has been implicated in social interaction. (Source: Molecular Autism)
Source: Molecular Autism - June 23, 2020 Category: Molecular Biology Source Type: research

Cortical neurons derived from human pluripotent stem cells lacking FMRP display altered spontaneous firing patterns
ConclusionsPharmacological manipulations can alter the action potential burst profiles in both control and FMRP-null human cortical neurons, making them appear like their genetic counterpart. Our studies indicate that FMRP targets that have been found in rodent models of FXS are also potential targets in a human-based model system, and we suggest potential mechanisms by which activity is altered. (Source: Molecular Autism)
Source: Molecular Autism - June 19, 2020 Category: Molecular Biology Source Type: research

Transcriptional signatures of participant-derived neural progenitor cells and neurons implicate altered Wnt signaling in Phelan-McDermid syndrome and autism
AbstractBackgroundPhelan-McDermid syndrome (PMS) is a rare genetic disorder with high risk of autism spectrum disorder (ASD), intellectual disability, and language delay, and is caused by 22q13.3 deletions or mutations in theSHANK3 gene. To date, the molecular and pathway changes resulting fromSHANK3 haploinsufficiency in PMS remain poorly understood. Uncovering these mechanisms is critical for understanding pathobiology of PMS and, ultimately, for the development of new therapeutic interventions.MethodsWe developed human-induced pluripotent stem cell (hiPSC)-based models of PMS by reprogramming peripheral blood samples fr...
Source: Molecular Autism - June 19, 2020 Category: Molecular Biology Source Type: research

Evidence against the “normalization” prediction of the early brain overgrowth hypothesis of autism
ConclusionsThese findings challenge the “normalization” prediction of the brain overgrowth hypothesis by demonstrating that brain enlargement persists across childhood into early adulthood. The findings raise questions about the clinical implications of brain enlargement, since we find that it neither confers cognitive benefits nor pr edicts increased symptom severity in ASD. (Source: Molecular Autism)
Source: Molecular Autism - June 18, 2020 Category: Molecular Biology Source Type: research

The sociability spectrum: evidence from reciprocal genetic copy number variations
AbstractSociability entails some of the most complex behaviors processed by the central nervous system. It includes the detection, integration, and interpretation of social cues and elaboration of context-specific responses that are quintessentially species-specific. There is an ever-growing accumulation of molecular associations to autism spectrum disorders (ASD), from causative genes to endophenotypes across multiple functional layers; these  however, have rarely been put in context with the opposite manifestation featured in hypersociability syndromes. Genetic copy number variations (CNVs) allow to investigate the ...
Source: Molecular Autism - June 16, 2020 Category: Molecular Biology Source Type: research

Sex differences in the first impressions made by girls and boys with autism
ConclusionsFirst impressions made during naturalistic conversations with non-expert conversation partners could —in combination with clinical ratings and parent report—shed light on the nature and effects of behavioral differences between girls and boys on the autism spectrum. (Source: Molecular Autism)
Source: Molecular Autism - June 16, 2020 Category: Molecular Biology Source Type: research

Defining clusters of young autistic and typically developing children based on loudness-dependent auditory electrophysiological responses
ConclusionsTaken together, these data demonstrate the broader benefits of using electrophysiology to explore individual differences. They illuminate different neural response patterns and suggest relationships between sensory neural responses and sensory behaviors, cognitive abilities, and autism diagnostic status. (Source: Molecular Autism)
Source: Molecular Autism - June 15, 2020 Category: Molecular Biology Source Type: research

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
ConclusionPV is involved in most proposed mechanisms implicated in ASD etiology: alterations in Ca2+ signaling affecting E/I balance, changes in mitochondria structure/function, and increased dendritic length and branching, possibly resulting in local hyperconnectivity, all in a likely cell autonomous way. (Source: Molecular Autism)
Source: Molecular Autism - June 9, 2020 Category: Molecular Biology Source Type: research

Neuroanatomical underpinnings of autism symptomatology in carriers and non-carriers of the 22q11.2 microdeletion
This study aimed to examine if ASD symptomatology in 22q11.2DS is underpinned by the same —or distinct—neural systems that mediate these symptoms in non-deletion carriers.MethodsWe examined vertex-wise estimates of cortical volume (CV), surface area (SA), and cortical thickness across 131 individuals between 6 and 25  years of age including (1) 50 individuals with 22q11.2DS, out of whichn = 25 had a diagnosis of ASD, (2) 40 non-carriers of the microdeletion with a diagnosis of ASD (i.e., idiopathic ASD), and (3) 41 typically developing (TD) controls. We employed a 2-by-2 factorial design to identify neur...
Source: Molecular Autism - June 8, 2020 Category: Molecular Biology Source Type: research

Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons
ConclusionsOur study points to modest and context-dependent transcriptional consequences ofMbd5 disruption in the brain. It also suggests a possible link betweenMBD5 and perturbations in ciliary function, which is an established pathogenic mechanism in developmental disorders and syndromes. (Source: Molecular Autism)
Source: Molecular Autism - June 5, 2020 Category: Molecular Biology Source Type: research

Electronic communication in autism spectrum conditions
(Source: Molecular Autism)
Source: Molecular Autism - June 5, 2020 Category: Molecular Biology Source Type: research

Decreased nuclear Pten in neural stem cells contributes to deficits in neuronal maturation
ConclusionsConstitutional disruption of Pten nuclear localization with subsequent global decrease in Pten expression generates abnormal patterns of differentiation, a stunting of neuronal maturation. The propensity of Pten disruption to restrain neurons to a more progenitor-like state may be an important feature contributing to PTEN-ASD pathogenesis.Graphical abstract (Source: Molecular Autism)
Source: Molecular Autism - June 1, 2020 Category: Molecular Biology Source Type: research

Copy number variants (CNVs): a powerful tool for iPSC-based modelling of ASD
AbstractPatients diagnosed with chromosome microdeletions or duplications, known as copy number variants (CNVs), present a unique opportunity to investigate the relationship between patient genotype and cell phenotype. CNVs have high genetic penetrance and give a good correlation between gene locus and patient clinical phenotype. This is especially effective for the study of patients with neurodevelopmental disorders (NDD), including those falling within the autism spectrum disorders (ASD). A key question is whether this correlation between genetics and clinical presentation at the level of the patient can be translated to...
Source: Molecular Autism - June 1, 2020 Category: Molecular Biology Source Type: research

Dysregulation of protein synthesis and dendritic spine morphogenesis in ASD: studies in human pluripotent stem cells
AbstractAutism spectrum disorder (ASD) is a brain disorder that involves changes in neuronal connections. Abnormal morphology of dendritic spines on postsynaptic neurons has been observed in ASD patients and transgenic mice that model different monogenetic causes of ASD. A number of ASD-associated genetic variants are known to disrupt dendritic local protein synthesis, which is essential for spine morphogenesis, synaptic transmission, and plasticity. Most of our understanding on the molecular mechanism underlying ASD depends on studies using rodents. However, recent advance in human pluripotent stem cells and their neural ...
Source: Molecular Autism - May 27, 2020 Category: Molecular Biology Source Type: research

Quantitative proteomic analysis of Rett iPSC-derived neuronal progenitors
ConclusionsDuring early neuronal differentiation, there are consistent and time-point specific proteomic alterations in RTT patient cells carrying exons 3 –4 deletion inMECP2. We found changes in proteins involved in pathway associated with RTT phenotypes, including dendrite morphology and synaptogenesis. Our results provide a valuable resource of proteins and pathways for follow-up studies, investigating common mechanisms involved during early disease stages of RTT syndrome. (Source: Molecular Autism)
Source: Molecular Autism - May 27, 2020 Category: Molecular Biology Source Type: research

Identification of amygdala-expressed genes associated with autism spectrum disorder
ConclusionsOur pipeline narrows down the number of amygdala-expressed genes possibly involved in the social pathophysiology of ASD. Our human single-nucleus gene expression analyses revealed that ASD is characterized by changes in gene expression in specific cell types in the early postnatal amygdala. (Source: Molecular Autism)
Source: Molecular Autism - May 27, 2020 Category: Molecular Biology Source Type: research

Elevated de novo protein synthesis in FMRP-deficient human neurons and its correction by metformin treatment
AbstractFXS is the most common genetic cause of intellectual (ID) and autism spectrum disorders (ASD). FXS is caused by loss of FMRP, an RNA-binding protein involved in the translational regulation of a large number of neuronal mRNAs. Absence of FMRP has been shown to lead to elevated protein synthesis and is thought to be a major cause of the synaptic plasticity and behavioural deficits in FXS. The increase in protein synthesis results in part from abnormal activation of key protein translation pathways downstream of ERK1/2 and mTOR signalling. Pharmacological and genetic interventions that attenuate hyperactivation of th...
Source: Molecular Autism - May 27, 2020 Category: Molecular Biology Source Type: research

Cell therapy approaches to autism: a review of clinical trial data
AbstractA number of clinical trials of cell therapies for autism spectrum disorder have been conducted, and some have published their outcomes. This review considers the data that have emerged from this small set of published trials, evaluates their success, and proposes further steps that could be taken if this field of endeavour is to be pursued further. A number of reservations arise from this tranche of studies, specifically the absence of identified therapeutic targets, and deficiencies in the therapeutic approach that is being employed. If this therapeutic direction is to be pursued further, then additional pre-clini...
Source: Molecular Autism - May 24, 2020 Category: Molecular Biology Source Type: research

Age-related differences in white matter diffusion measures in autism spectrum condition
ConclusionsTaken together, our findings suggest that autistic males have an altered trajectory of white matter maturation relative to controls. Future longitudinal analyses are required to further characterize the extent and time course of these differences. (Source: Molecular Autism)
Source: Molecular Autism - May 18, 2020 Category: Molecular Biology Source Type: research

Prevalence and cumulative incidence of autism spectrum disorders and the patterns of co-occurring neurodevelopmental disorders in a total population sample of 5-year-old children
ConclusionsOur findings demonstrate the stability of the 5-year cumulative incidence of ASD, implying no true rise in ASD incident cases over the 4-year study period in the study catchment area. High rates of co-existing NDDs reflect the importance of investigating broad developmental challenges in children with ASD. (Source: Molecular Autism)
Source: Molecular Autism - May 14, 2020 Category: Molecular Biology Source Type: research

Effectiveness of a modified group cognitive behavioral therapy program for anxiety in children with ASD delivered in a community context
ConclusionsOverall, this study demonstrated that community implementation of a modified group CBT program for youth with ASD is feasible and effective for treating elevated anxiety. (Source: Molecular Autism)
Source: Molecular Autism - May 13, 2020 Category: Molecular Biology Source Type: research

Modeling neuronal consequences of autism-associated gene regulatory variants with human induced pluripotent stem cells
AbstractGenetic factors contribute to the development of autism spectrum disorder (ASD), and although non-protein-coding regions of the genome are being increasingly implicated in ASD, the functional consequences of these variants remain largely uncharacterized. Induced pluripotent stem cells (iPSCs) enable the production of personalized neurons that are genetically matched to people with ASD and can therefore be used to directly test the effects of genomic variation on neuronal gene expression, synapse function, and connectivity. The combined use of human pluripotent stem cells with genome editing to introduce or correct ...
Source: Molecular Autism - May 12, 2020 Category: Molecular Biology Source Type: research

Automated recognition of spontaneous facial expression in individuals with autism spectrum disorder: parsing response variability
AbstractBackgroundReduction or differences in facial expression are a core diagnostic feature of autism spectrum disorder (ASD), yet evidence regarding the extent of this discrepancy is limited and inconsistent. Use of automated facial expression detection technology enables accurate and efficient tracking of facial expressions that has potential to identify individual response differences.MethodsChildren and adults with ASD (N = 124) and typically developing (TD,N = 41) were shown short clips of “funny videos.” Using automated facial analysis software, we investigated differences between ASD and TD groups and ...
Source: Molecular Autism - May 11, 2020 Category: Molecular Biology Source Type: research

Exploring the mechanisms underlying excitation/inhibition imbalance in human iPSC-derived models of ASD
AbstractAutism spectrum disorder (ASD) is a range of neurodevelopmental disorders characterized by impaired social interaction and communication, and repetitive or restricted behaviors. ASD subjects exhibit complex genetic and clinical heterogeneity, thus hindering the discovery of pathophysiological mechanisms. Considering that several ASD-risk genes encode proteins involved in the regulation of synaptic plasticity, neuronal excitability, and neuronal connectivity, one hypothesis that has emerged is that ASD arises from a disruption of the neuronal network activity due to perturbation of the synaptic excitation and inhibi...
Source: Molecular Autism - May 11, 2020 Category: Molecular Biology Source Type: research

Effects of bumetanide on neurodevelopmental impairments in patients with tuberous sclerosis complex: an open-label pilot study
ConclusionsBumetanide treatment is a potential treatment to alleviate the behavioral burden and quality of life associated with TSC. More elaborate trials are needed to determine the application and effect size of bumetanide for the TSC population.Trial registrationEU Clinical Trial Register, EudraCT 2016-002408-13 (www.clinicaltrialsregister.eu/ctr-search/trial/2016-002408-13/NL). Registered 25 July 2016. (Source: Molecular Autism)
Source: Molecular Autism - May 7, 2020 Category: Molecular Biology Source Type: research

Tsc1 haploinsufficiency in Nkx2.1 cells upregulates hippocampal interneuron mTORC1 activity, impairs pyramidal cell synaptic inhibition, and alters contextual fear discrimination and spatial working memory in mice
ConclusionsOur results indicate thatTsc1 haploinsufficiency in MGE-derived inhibitory cells upregulates mTORC1 activity in these interneurons, reduces their synaptic inhibition of pyramidal cells, and alters contextual fear discrimination and spatial working memory. Thus, selective dysregulation of mTORC1 function in Nkx2.1-expressing inhibitory cells appears sufficient to impair synaptic inhibition and contributes to cognitive deficits in theTsc1 mouse model of TSC. (Source: Molecular Autism)
Source: Molecular Autism - May 6, 2020 Category: Molecular Biology Source Type: research

Inattention and hyperactive/impulsive component scores do not differentiate between autism spectrum disorder and attention-deficit/hyperactivity disorder in a clinical sample
ConclusionsASD and ADHD items loaded on separate components in our sample, suggesting that the measurement structure cannot explain the covariation between the two disorders in clinical samples. High levels of inattention and hyperactivity/impulsivity were seen in both ASD and ADHD in our clinical sample. This supports the need for a dimensional framework that examines neurodevelopmental domains across traditional diagnostic boundaries. Females also had lower component scores across social-communication, RRBI, and hyperactivity/impulsivity than males, suggesting that there may be gender-specific phenotypes related to the t...
Source: Molecular Autism - April 25, 2020 Category: Molecular Biology Source Type: research

Emerging proteomic approaches to identify the underlying pathophysiology of neurodevelopmental and neurodegenerative disorders
AbstractProteomics is the large-scale study of the total protein content and their overall function within a cell through multiple facets of research. Advancements in proteomic methods have moved past the simple quantification of proteins to the identification of post-translational modifications (PTMs) and the ability to probe interactions between these proteins, spatially and temporally. Increased sensitivity and resolution of mass spectrometers and sample preparation protocols have drastically reduced the large amount of cells required and the experimental variability that had previously hindered its use in studying huma...
Source: Molecular Autism - April 21, 2020 Category: Molecular Biology Source Type: research

Human in vitro models for understanding mechanisms of autism spectrum disorder
AbstractEarly brain development is a critical epoch for the development of autism spectrum disorder (ASD). In vivo animal models have, until recently, been the principal tool used to study early brain development and the changes occurring in neurodevelopmental disorders such as ASD. In vitro models of brain development represent a significant advance in the field. Here, we review the main methods available to study human brain development in vitro and the applications of these models for studying ASD and other psychiatric disorders. We discuss the main findings from stem cell models to date focusing on cell cycle and proli...
Source: Molecular Autism - April 16, 2020 Category: Molecular Biology Source Type: research

The relationship of autistic traits to taste and olfactory processing in anorexia nervosa
ConclusionsNo significant associations between autistic traits and taste and smell processing in AN were identified. Future research should consider further exploring this area, including by comparing autistic women to women with AN. (Source: Molecular Autism)
Source: Molecular Autism - April 10, 2020 Category: Molecular Biology Source Type: research

Developmental changes in attention to social information from childhood to adolescence in autism spectrum disorders: a comparative study
ConclusionsThere may be qualitative differences in abnormal eye contact in ASD between individuals in early childhood and those older than 10  years. (Source: Molecular Autism)
Source: Molecular Autism - April 9, 2020 Category: Molecular Biology Source Type: research

SCN2A channelopathies in the autism spectrum of neuropsychiatric disorders: a role for pluripotent stem cells?
AbstractEfforts to identify the causes of autism spectrum disorders have highlighted the importance of both genetics and environment, but the lack of human models for many of these disorders limits researchers ’ attempts to understand the mechanisms of disease and to develop new treatments. Induced pluripotent stem cells offer the opportunity to study specific genetic and environmental risk factors, but the heterogeneity of donor genetics may obscure important findings. Diseases associated with unusuall y high rates of autism, such asSCN2A syndromes, provide an opportunity to study specific mutations with high effect...
Source: Molecular Autism - April 7, 2020 Category: Molecular Biology Source Type: research

Loss of the neurodevelopmental disease-associated gene miR-146a impairs neural progenitor differentiation and causes learning and memory deficits
ConclusionOur results show thatmiR-146a expression is critical for correct differentiation of neural stem cell during brain development and provide for the first time a strong argument for a postnatal role ofmiR-146a in regulating hippocampal-dependent memory. Furthermore, the demonstration that theMir146a−/− mouse recapitulates several aspects reported in DBD patients, including impaired neurogenesis, abnormal brain anatomy, and working and spatial memories deficits, provides convincing evidence that the dysregulation ofmiR146a contributes to the pathogenesis of DBDs. (Source: Molecular Autism)
Source: Molecular Autism - March 30, 2020 Category: Molecular Biology Source Type: research

Using human pluripotent stem cell models to study autism in the era of big data
AbstractAdvances in human pluripotent stem cell (hPSC) biology coupled with protocols to generate diverse brain cell types in vitro have provided neuroscientists with opportunities to dissect basic and disease mechanisms in increasingly relevant cellular substrates. At the same time, large data collections and analyses have facilitated unprecedented insights into autism genetics, normal human genetic variation, and the molecular landscape of the developing human brain. While such insights have enabled the investigation of key mechanistic questions in autism, they also highlight important limitations associated with the use...
Source: Molecular Autism - March 23, 2020 Category: Molecular Biology Source Type: research

Effects of oxytocin administration on salivary sex hormone levels in autistic and neurotypical women
AbstractBackgroundOxytocin administration, which may be of therapeutic value for individuals with social difficulties, is likely to affect endogenous levels of other socially relevant hormones. However, to date, the effects of oxytocin administration on endogenous hormones have only been examined in neurotypical individuals. The need to consider multi-hormone interactions is particularly warranted in oxytocin trials for autism due to evidence of irregularities in both oxytocin and sex steroid systems.MethodsIn this double-blind cross-over study, saliva samples were collected from 16 autistic and 29 neurotypical women befor...
Source: Molecular Autism - March 18, 2020 Category: Molecular Biology Source Type: research

A DLG2 deficiency in mice leads to reduced sociability and increased repetitive behavior accompanied by aberrant synaptic transmission in the dorsal striatum
ConclusionThese results suggest that homozygousDlg2 deletion in mice leads to ASD-like behavioral phenotypes, including social deficits and increased repetitive behaviors, as well as reductions in excitatory synaptic input onto dorsolateral spiny projection neurons, implying that the dorsal striatum is one of the brain regions vulnerable to the developmental dysregulation of DLG2. (Source: Molecular Autism)
Source: Molecular Autism - March 12, 2020 Category: Molecular Biology Source Type: research

Revised scored Sensory Perception Quotient reveals sensory hypersensitivity in women with autism
ConclusionsThe present findings revealed greater sensory hypersensitivity, but not hyposensitivity, in females with ASC compared to BAP and control female groups, and that a greater degree of autism traits relates to higher hypersensitivity in ASC females. The results offer support for the enhanced perceptual functioning model using large samples of females, who are an understudied population, and demonstrate the validity of the SPQ-RS as a valuable new research tool for exploring self-reported hypersensitivity and hyposensitivity. (Source: Molecular Autism)
Source: Molecular Autism - March 2, 2020 Category: Molecular Biology Source Type: research

Social brain activation during mentalizing in a large autism cohort: the Longitudinal European Autism Project
ConclusionsContrary to prior reports, this large-scale study does not support the assumption that altered social brain activation during mentalizing forms a common neural marker of ASD, at least with the paradigm we employed. Yet, autistic individuals show socio-behavioral deficits. Our work therefore highlights the need to interrogate social brain function with other brain measures, such as connectivity and network-based approaches, using other paradigms, or applying complementary analysis approaches to assess individual differences in this heterogeneous condition. (Source: Molecular Autism)
Source: Molecular Autism - February 22, 2020 Category: Molecular Biology Source Type: research

Recent advances in human stem cell-based modeling of Tuberous Sclerosis Complex
AbstractTuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by epilepsy, intellectual disability, and benign tumors of the brain, heart, skin, and kidney. Animal models have contributed to our understanding of normal and abnormal human brain development, but the construction of models that accurately recapitulate a human pathology remains challenging. Recent advances in stem cell biology with the derivation of human-induced pluripotent stem cells (hiPSCs) from somatic cells from patients have opened new avenues to the study of TSC. This approach combined with gene-editing tools such as CRISPR/C...
Source: Molecular Autism - February 19, 2020 Category: Molecular Biology Source Type: research

Quantifying compensatory strategies in adults with and without diagnosed autism
ConclusionsTogether, our findings suggest that many intellectually able adults, with and without a clinical diagnosis of autism, report using compensatory strategies to modify their social behaviour. We discuss the clinical utility of measuring self-reported compensation (e.g.,  using our checklist), with important implications for the accurate diagnosis and management of autism and related conditions. (Source: Molecular Autism)
Source: Molecular Autism - February 12, 2020 Category: Molecular Biology Source Type: research

Links between self-injury and suicidality in autism
ConclusionsThese preliminary data suggest that while individuals might frame their self-injury as a positive or neutral thing, there remains a concerning relationship between self-injury and suicidality which exists regardless of individual feelings on self-injury. This is consistent with the theoretical perspective that self-injury can be a “gateway” through which individuals acquire capability for lethal suicidal behaviors. The data highlight that particular methods (cutting) and reasons for self-injury may be of significant concern, but this information, which might be of extreme value for clinicians, requir...
Source: Molecular Autism - February 10, 2020 Category: Molecular Biology Source Type: research

Transcriptomics of Gabra4 knockout mice reveals common NMDAR pathways underlying autism, memory, and epilepsy
AbstractAutism spectrum disorder (ASD) is a neuronal developmental disorder with impaired social interaction and communication, often with abnormal intelligence and comorbidity with epilepsy. Disturbances in synaptic transmission, including the GABAergic, glutamatergic, and serotonergic systems, are known to be involved in the pathogenesis of this disorder, yet we do not know if there is a common molecular mechanism. As mutations in the GABAergic receptor subunit geneGABRA4 are reported in patients with ASD, we eliminated theGabra4 gene in mice and found that theGabra4 knockout mice showed autistic-like behavior, enhanced ...
Source: Molecular Autism - February 7, 2020 Category: Molecular Biology Source Type: research