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 17, 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 13, 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 12, 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 11, 2020 Category: Molecular Biology Source Type: research
Automated recognition of spontaneous facial expression in individuals with autism spectrum disorder: parsing response variability
ConclusionsIndividuals with ASD differed from the TD group in their facial expressions of positive emotion in response to “funny videos.” Identification of subgroups based on response may help in parsing heterogeneity in ASD and enable targeting of treatment based on subtypes.Trial registrationClinicalTrials.gov,NCT02299700. Registration date: November 24, 2014 (Source: Molecular Autism)
Source: Molecular Autism - May 10, 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 10, 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 6, 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 5, 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 24, 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 20, 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 15, 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 9, 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 8, 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 siz...
Source: Molecular Autism - April 6, 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 29, 2020 Category: Molecular Biology Source Type: research
