Germline nuclear-predominant Pten murine model exhibits impaired social and perseverative behavior, microglial activation, and increased oxytocinergic activity
ConclusionsThe nuclear-predominantPtenY68H/+ model has clarified that Pten dysfunction links to microglial pathology and this associates with increased Akt signaling. We also demonstrate that Pten dysfunction associates with changes in the oxytocin system, an important connection between a prominent ASD risk gene and a potent neuroendocrine regulator of social behavior. These cellular and molecular pathologies may related to the observed changes in social behavior. Ultimately, the findings from this work may reveal important biomarkers and/or novel therapeutic modalities that could be explored in individuals with germline ...
Source: Molecular Autism - June 4, 2021 Category: Molecular Biology Source Type: research
Retraction Note to: Improving the measurement of alexithymia in autistic adults: a psychometric investigation and refinement of the twenty-item Toronto Alexithymia Scale
This article has been retracted. Please see the Retraction Notice for more detail: https://doi.org/10.1186/s13229-021-00446-6 (Source: Molecular Autism)
Source: Molecular Autism - May 30, 2021 Category: Molecular Biology Source Type: research
Using the big data approach to clarify the structure of restricted and repetitive behaviors across the most commonly used autism spectrum disorder measures
ConclusionsReported findings offer promise for capturing important RRB domains using general ASD measures and highlight the need for measurement development. (Source: Molecular Autism)
Source: Molecular Autism - May 27, 2021 Category: Molecular Biology Source Type: research
Randomized controlled trial of sulforaphane and metabolite discovery in children with Autism Spectrum Disorder
ConclusionsSF led to small yet non-statistically significant changes in the total and all subscale scores of the primary outcome measure, while for secondary outcome measures, caregivers ’ assessments of children taking SF showed statistically significant improvements compared to those taking PL on the ABC but not the SRS-2. Clinical effects of SF were less notable in children compared to our previous trial of a SF-rich preparation in young men with ASD. Several of the effects of SF on biomarkers correlated to clinical improvements. SF was very well tolerated and safe and effective based on our secondary clinical measure...
Source: Molecular Autism - May 25, 2021 Category: Molecular Biology Source Type: research
The Comprehensive Autistic Trait Inventory (CATI): development and validation of a new measure of autistic traits in the general population
ConclusionsThe CATI is a reliable and economical new measure that provides observations across a wide range of trait dimensions associated with autism, potentially precluding the need to administer multiple measures, and to our knowledge, the CATI is also the first broad measure of autistic traits to have dedicated subscales for social camouflage and sensory sensitivity. (Source: Molecular Autism)
Source: Molecular Autism - May 17, 2021 Category: Molecular Biology Source Type: research
Prospective and detailed behavioral phenotyping in DDX3X syndrome
ConclusionThis study, representing a first, prospective, detailed characterization of DDX3X syndrome, extends our understanding of the neurobehavioral phenotype. Gold-standard diagnostic approaches demonstrated high rates of ID, ASD, and ADHD. In addition, sensory deficits were observed to be a key part of the syndrome. Even with a modest sample, we observe evidence for genotype –phenotype correlations with missense variants/in-frame deletions generally associated with more severe phenotypes. (Source: Molecular Autism)
Source: Molecular Autism - May 16, 2021 Category: Molecular Biology Source Type: research
Bayonet-shaped language development in autism with regression: a retrospective study
ConclusionsFor autistic individuals with ELR and a normal level of non-verbal intelligence, language development follows a “bayonet shape” trajectory: early first words followed by regression, a plateau with limited progress, and then language catch up. (Source: Molecular Autism)
Source: Molecular Autism - May 13, 2021 Category: Molecular Biology Source Type: research
Single-participant structural similarity matrices lead to greater accuracy in classification of participants than function in autism in MRI
ConclusionThis study provides a simple means of feature extraction for inputting large numbers of structural MRIs into machine learning models. Our methods revealed a unique emphasis of the deep learning model on the structure of the bilateral Heschl ’s gyrus when characterizing autism. (Source: Molecular Autism)
Source: Molecular Autism - May 10, 2021 Category: Molecular Biology Source Type: research
An investigation of the diet, exercise, sleep, BMI, and health outcomes of autistic adults
ConclusionsAutistic adults are less likely to meet minimal health recommendations for diet, exercise, and sleep —and these unhealthy behaviors may relate to excess risk of cardiovascular conditions. Although the present study can only provide preliminary, correlational evidence, our findings suggest that diet, exercise, and sleep should be considered and further investigated as key targets for reducing the now widely reported and dramatically increased risks of health comorbidity and premature death among autistic individuals compared to others. Physicians should work cooperatively with patients to provide health educati...
Source: Molecular Autism - May 8, 2021 Category: Molecular Biology Source Type: research
Examining a stepped-care telehealth program for parents of young children with autism: a proof-of-concept trial
ConclusionsOverall, the Online RIT program delivered in a stepped-care format shows strong acceptability and holds promise as an innovative delivery model.Trial registration ClinicalTrials.gov, NCT04467073. Registered 10 July 2020- Retrospectively registered,https://clinicaltrials.gov/ct2/show/NCT04467073 (Source: Molecular Autism)
Source: Molecular Autism - May 8, 2021 Category: Molecular Biology Source Type: research
Correction to: Chd8 haploinsufficiency impairs early brain development and protein homeostasis later in life
An amendment to this paper has been published and can be accessed via the original article. (Source: Molecular Autism)
Source: Molecular Autism - May 8, 2021 Category: Molecular Biology Source Type: research
Extremely preterm birth and autistic traits in young adulthood: the EPICure study
ConclusionsA larger proportion of EP survivors are affected by difficulties associated with autism than have confirmed diagnoses, with a moderate correlation between autism symptom scores in childhood and autistic traits in young adulthood. EP young adults had significantly higher autism symptom scores and a larger proportion had a diagnosis of autism than controls. Screening for autistic traits at set points throughout childhood will help identify those EP individuals at risk of social difficulties who may benefit from intervention. (Source: Molecular Autism)
Source: Molecular Autism - May 6, 2021 Category: Molecular Biology Source Type: research
Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome
ConclusionsIncreased phase bias suggests potential circuit-level mechanisms underlying phenotype in PMS, offering opportunities for back-translation of findings into animal models and targeting in clinical trials. (Source: Molecular Autism)
Source: Molecular Autism - April 28, 2021 Category: Molecular Biology Source Type: research
New guidance to seekers of autism biomarkers: an update from studies of identical twins
ConclusionBiomarkers identified on the basis of association with clinical symptom severity in ASD may reflecteffects rather thancauses of autism. The search for biomarkers of pathogenesis may benefit from a greater focus on traits that predict autism recurrence, among both clinical and general populations. In case –control studies, salient developmental liabilities should be systematically measured in both cases and controls, to avoid the erosion in statistical power (i.e., to detect differences) that can occur if control subjects carry sub-clinical aggregations of the same unmeasured traits that exert ca usal influenc...
Source: Molecular Autism - April 19, 2021 Category: Molecular Biology Source Type: research
Imitation and recognition of facial emotions in autism: a computer vision approach
ConclusionsGroup differences in emotion recognition, imitation and their interrelationships highlight potential for treatment of social interaction problems in individuals with autism. (Source: Molecular Autism)
Source: Molecular Autism - April 6, 2021 Category: Molecular Biology Source Type: research
