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Molecular Autism

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https://www.readbyqxmd.com/read/28630661/intrainsular-connectivity-and-somatosensory-responsiveness-in-young-children-with-asd
#1
Michelle D Failla, Brittany R Peters, Haleh Karbasforoushan, Jennifer H Foss-Feig, Kimberly B Schauder, Brynna H Heflin, Carissa J Cascio
BACKGROUND: The human somatosensory system comprises dissociable paths for discriminative and affective touch, reflected in separate peripheral afferent populations and distinct cortical targets. Differences in behavioral and neural responses to affective touch may have an important developmental role in early social experiences, which are relevant for autism spectrum disorder (ASD). METHODS: Using probabilistic tractography, we compared the structural integrity of white matter pathways for discriminative and affective touch in young children with ASD and their typically developing (TD) peers...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28616126/autistic-traits-affect-interpersonal-motor-coordination-by-modulating-strategic-use-of-role-based-behavior
#2
Arianna Curioni, Ilaria Minio-Paluello, Lucia Maria Sacheli, Matteo Candidi, Salvatore Maria Aglioti
BACKGROUND: Despite the fact that deficits in social communication and interaction are at the core of Autism Spectrum Conditions (ASC), no study has yet tested individuals on a continuum from neurotypical development to autism in an on-line, cooperative, joint action task. In our study, we aimed to assess whether the degree of autistic traits affects participants' ability to modulate their motor behavior while interacting in a Joint Grasping task and according to their given role. METHODS: Sixteen pairs of adult participants played a cooperative social interactive game in which they had to synchronize their reach-to-grasp movements...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28596820/neural-synchronization-deficits-linked-to-cortical-hyper-excitability-and-auditory-hypersensitivity-in-fragile-x-syndrome
#3
Lauren E Ethridge, Stormi P White, Matthew W Mosconi, Jun Wang, Ernest V Pedapati, Craig A Erickson, Matthew J Byerly, John A Sweeney
BACKGROUND: Studies in the fmr1 KO mouse demonstrate hyper-excitability and increased high-frequency neuronal activity in sensory cortex. These abnormalities may contribute to prominent and distressing sensory hypersensitivities in patients with fragile X syndrome (FXS). The current study investigated functional properties of auditory cortex using a sensory entrainment task in FXS. METHODS: EEG recordings were obtained from 17 adolescents and adults with FXS and 17 age- and sex-matched healthy controls...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28540026/meta-analysis-of-gwas-of-over-16-000-individuals-with-autism-spectrum-disorder-highlights-a-novel-locus-at-10q24-32-and-a-significant-overlap-with-schizophrenia
#4
(no author information available yet)
BACKGROUND: Over the past decade genome-wide association studies (GWAS) have been applied to aid in the understanding of the biology of traits. The success of this approach is governed by the underlying effect sizes carried by the true risk variants and the corresponding statistical power to observe such effects given the study design and sample size under investigation. Previous ASD GWAS have identified genome-wide significant (GWS) risk loci; however, these studies were of only of low statistical power to identify GWS loci at the lower effect sizes (odds ratio (OR) <1...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28413601/a-few-of-my-favorite-things-circumscribed-interests-in-autism-are-not-accompanied-by-increased-attentional-salience-on-a-personalized-selective-attention-task
#5
Owen E Parsons, Andrew P Bayliss, Anna Remington
BACKGROUND: Autistic individuals commonly show circumscribed or "special" interests: areas of obsessive interest in a specific category. The present study investigated what impact these interests have on attention, an aspect of autistic cognition often reported as altered. In neurotypical individuals, interest and expertise have been shown to result in an automatic attentional priority for related items. Here, we examine whether this change in salience is also seen in autism. METHODS: Adolescents and young adults with and without autism performed a personalized selective attention task assessing the level of attentional priority afforded to images related to the participant's specific interests...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28392909/neurogenetic-analysis-of-childhood-disintegrative-disorder
#6
Abha R Gupta, Alexander Westphal, Daniel Y J Yang, Catherine A W Sullivan, Jeffrey Eilbott, Samir Zaidi, Avery Voos, Brent C Vander Wyk, Pam Ventola, Zainulabedin Waqar, Thomas V Fernandez, A Gulhan Ercan-Sencicek, Michael F Walker, Murim Choi, Allison Schneider, Tammy Hedderly, Gillian Baird, Hannah Friedman, Cara Cordeaux, Alexandra Ristow, Frederick Shic, Fred R Volkmar, Kevin A Pelphrey
BACKGROUND: Childhood disintegrative disorder (CDD) is a rare form of autism spectrum disorder (ASD) of unknown etiology. It is characterized by late-onset regression leading to significant intellectual disability (ID) and severe autism. Although there are phenotypic differences between CDD and other forms of ASD, it is unclear if there are neurobiological differences. METHODS: We pursued a multidisciplinary study of CDD (n = 17) and three comparison groups: low-functioning ASD (n = 12), high-functioning ASD (n = 50), and typically developing (n = 26) individuals...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28392908/shared-genetic-influences-between-dimensional-asd-and-adhd-symptoms-during-child-and-adolescent-development
#7
Evie Stergiakouli, George Davey Smith, Joanna Martin, David H Skuse, Wolfgang Viechtbauer, Susan M Ring, Angelica Ronald, David E Evans, Simon E Fisher, Anita Thapar, Beate St Pourcain
BACKGROUND: Shared genetic influences between attention-deficit/hyperactivity disorder (ADHD) symptoms and autism spectrum disorder (ASD) symptoms have been reported. Cross-trait genetic relationships are, however, subject to dynamic changes during development. We investigated the continuity of genetic overlap between ASD and ADHD symptoms in a general population sample during childhood and adolescence. We also studied uni- and cross-dimensional trait-disorder links with respect to genetic ADHD and ASD risk...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28367307/transcriptome-analysis-of-microglia-in-a-mouse-model-of-rett-syndrome-differential-expression-of-genes-associated-with-microglia-macrophage-activation-and-cellular-stress
#8
Dejian Zhao, Ryan Mokhtari, Erika Pedrosa, Rayna Birnbaum, Deyou Zheng, Herbert M Lachman
BACKGROUND: Rett syndrome (RTT) is a severe, neurodevelopmental disorder primarily affecting girls, characterized by progressive loss of cognitive, social, and motor skills after a relatively brief period of typical development. It is usually due to de novo loss of function mutations in the X-linked gene, MeCP2, which codes for the gene expression and chromatin regulator, methyl-CpG binding protein 2. Although the behavioral phenotype appears to be primarily due to neuronal Mecp2 deficiency in mice, other cell types, including astrocytes and oligodendrocytes, also appear to contribute to some aspects of the RTT phenotype...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28344759/susceptibility-to-ebbinghaus-and-m%C3%A3-ller-lyer-illusions-in-autistic-children-a-comparison-of-three-different-methods
#9
COMPARATIVE STUDY
Catherine Manning, Michael J Morgan, Craig T W Allen, Elizabeth Pellicano
BACKGROUND: Studies reporting altered susceptibility to visual illusions in autistic individuals compared to that typically developing individuals have been taken to reflect differences in perception (e.g. reduced global processing), but could instead reflect differences in higher-level decision-making strategies. METHODS: We measured susceptibility to two contextual illusions (Ebbinghaus, Müller-Lyer) in autistic children aged 6-14 years and typically developing children matched in age and non-verbal ability using three methods...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28344758/no-evidence-of-early-head-circumference-enlargements-in-children-later-diagnosed-with-autism-in-israel
#10
Ilan Dinstein, Shlomi Haar, Shir Atsmon, Hen Schtaerman
BACKGROUND: Large controversy exists regarding the potential existence and clinical significance of larger brain volumes in toddlers who later develop autism. Assessing this relationship is important for determining the clinical utility of early head circumference (HC) measures and for assessing the validity of the early overgrowth hypothesis of autism, which suggests that early accelerated brain development may be a hallmark of the disorder. METHODS: We performed a retrospective comparison of HC, height, and weight measurements between 66 toddlers who were later diagnosed with autism and 66 matched controls...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28344757/leveraging-blood-serotonin-as-an-endophenotype-to-identify-de-novo-and-rare-variants-involved-in-autism
#11
Rui Chen, Lea K Davis, Stephen Guter, Qiang Wei, Suma Jacob, Melissa H Potter, Nancy J Cox, Edwin H Cook, James S Sutcliffe, Bingshan Li
BACKGROUND: Autism spectrum disorder (ASD) is one of the most highly heritable neuropsychiatric disorders, but underlying molecular mechanisms are still unresolved due to extreme locus heterogeneity. Leveraging meaningful endophenotypes or biomarkers may be an effective strategy to reduce heterogeneity to identify novel ASD genes. Numerous lines of evidence suggest a link between hyperserotonemia, i.e., elevated serotonin (5-hydroxytryptamine or 5-HT) in whole blood, and ASD. However, the genetic determinants of blood 5-HT level and their relationship to ASD are largely unknown...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28331572/environmental-risk-factors-for-autism-an-evidence-based-review-of-systematic-reviews-and-meta-analyses
#12
REVIEW
Amirhossein Modabbernia, Eva Velthorst, Abraham Reichenberg
BACKGROUND: According to recent evidence, up to 40-50% of variance in autism spectrum disorder (ASD) liability might be determined by environmental factors. In the present paper, we conducted a review of systematic reviews and meta-analyses of environmental risk factors for ASD. We assessed each review for quality of evidence and provided a brief overview of putative mechanisms of environmental risk factors for ASD. FINDINGS: Current evidence suggests that several environmental factors including vaccination, maternal smoking, thimerosal exposure, and most likely assisted reproductive technologies are unrelated to risk of ASD...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28331571/clinical-evaluation-of-autistic-symptoms-in-women-with-anorexia-nervosa
#13
Heather Westwood, William Mandy, Kate Tchanturia
BACKGROUND: Despite a suggested link between anorexia nervosa (AN) and autism spectrum disorder (ASD), previous studies have used self-report or diagnostic criteria to assess for ASD in AN populations, rather than direct observation of symptom characteristic of ASD. The aim of this study was to use a standardised, clinical assessment of ASD, the Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2), to investigate the presence of autistic symptoms in a cross-sectional sample of women with AN...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28321286/crispr-cas9-mediated-heterozygous-knockout-of-the-autism-gene-chd8-and-characterization-of-its-transcriptional-networks-in-cerebral-organoids-derived-from-ips-cells
#14
Ping Wang, Ryan Mokhtari, Erika Pedrosa, Michael Kirschenbaum, Can Bayrak, Deyou Zheng, Herbert M Lachman
BACKGROUND: CHD8 (chromodomain helicase DNA-binding protein 8), which codes for a member of the CHD family of ATP-dependent chromatin-remodeling factors, is one of the most commonly mutated genes in autism spectrum disorders (ASD) identified in exome-sequencing studies. Loss of function mutations in the gene have also been found in schizophrenia (SZ) and intellectual disabilities and influence cancer cell proliferation. We previously reported an RNA-seq analysis carried out on neural progenitor cells (NPCs) and monolayer neurons derived from induced pluripotent stem (iPS) cells that were heterozygous for CHD8 knockout (KO) alleles generated using CRISPR-Cas9 gene editing...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28316774/glutathione-metabolism-in-the-prefrontal-brain-of-adults-with-high-functioning-autism-spectrum-disorder-an-mrs-study
#15
Dominique Endres, Ludger Tebartz van Elst, Simon A Meyer, Bernd Feige, Kathrin Nickel, Anna Bubl, Andreas Riedel, Dieter Ebert, Thomas Lange, Volkmar Glauche, Monica Biscaldi, Alexandra Philipsen, Simon J Maier, Evgeniy Perlov
BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disease characterized by difficulties in social communication, unusually restricted, repetitive behavior and interests, and specific abnormalities in language and perception. The precise etiology of ASD is still unknown and probably heterogeneous. In a subgroup of patients, toxic environmental exposure might lead to an imbalance between oxidative stress and anti-oxidant systems. Previous serum and postmortem studies measuring levels of glutathione (GSH), the main cellular free radical scavenger in the brain, have supported the hypothesis that this compound might play a role in the pathophysiology of autism...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28316773/vitamin-d-treatment-during-pregnancy-prevents-autism-related-phenotypes-in-a-mouse-model-of-maternal-immune-activation
#16
Stephanie Vuillermot, Wei Luan, Urs Meyer, Darryl Eyles
BACKGROUND: Prenatal exposure to infection is a recognized environmental risk factor for neuropsychiatric disorders of developmental origins such as autism or schizophrenia. Experimental work in animals indicates that this link is mediated by maternal immune activation (MIA) involving interactions between cytokine-associated inflammatory events, oxidative stress, and other pathophysiological processes such as hypoferremia and zinc deficiency. Maternal administration of the viral mimic polyriboinosinic-polyribocytidylic acid (poly(I:C)) in mice produces several behavioral phenotypes in adult offspring of relevance to autism spectrum disorder (ASD) and other neurodevelopmental disorders...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28316772/neural-circuitry-at-age-6%C3%A2-months-associated-with-later-repetitive-behavior-and-sensory-responsiveness-in-autism
#17
Jason J Wolff, Meghan R Swanson, Jed T Elison, Guido Gerig, John R Pruett, Martin A Styner, Clement Vachet, Kelly N Botteron, Stephen R Dager, Annette M Estes, Heather C Hazlett, Robert T Schultz, Mark D Shen, Lonnie Zwaigenbaum, Joseph Piven
BACKGROUND: Restricted and repetitive behaviors are defining features of autism spectrum disorder (ASD). Under revised diagnostic criteria for ASD, this behavioral domain now includes atypical responses to sensory stimuli. To date, little is known about the neural circuitry underlying these features of ASD early in life. METHODS: Longitudinal diffusion tensor imaging data were collected from 217 infants at high familial risk for ASD. Forty-four of these infants were diagnosed with ASD at age 2...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28316771/disconnection-from-others-in-autism-is-more-than-just-a-feeling-whole-brain-neural-synchrony-in-adults-during-implicit-processing-of-emotional-faces
#18
Rocco Mennella, Rachel C Leung, Margot J Taylor, Benjamin T Dunkley
BACKGROUND: Socio-emotional difficulties in autism spectrum disorder (ASD) are thought to reflect impaired functional connectivity within the "social brain". Nonetheless, a whole-brain characterization of the fast responses in functional connectivity during implicit processing of emotional faces in adults with ASD is lacking. METHODS: The present study used magnetoencephalography to investigate early responses in functional connectivity, as measured by interregional phase synchronization, during implicit processing of angry, neutral and happy faces...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28316770/exaggerated-cph-methylation-in-the-autism-affected-brain
#19
Shannon E Ellis, Simone Gupta, Anna Moes, Andrew B West, Dan E Arking
BACKGROUND: The etiology of autism, a complex, heritable, neurodevelopmental disorder, remains largely unexplained. Given the unexplained risk and recent evidence supporting a role for epigenetic mechanisms in the development of autism, we explored the role of CpG and CpH (H = A, C, or T) methylation within the autism-affected cortical brain tissue. METHODS: Reduced representation bisulfite sequencing (RRBS) was completed, and analysis was carried out in 63 post-mortem cortical brain samples (Brodmann area 19) from 29 autism-affected and 34 control individuals...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28316769/etiological-influences-on-the-stability-of-autistic-traits-from-childhood-to-early-adulthood-evidence-from-a-twin-study
#20
Mark J Taylor, Christopher Gillberg, Paul Lichtenstein, Sebastian Lundström
BACKGROUND: Autism spectrum disorders (ASD) are persistent and lifelong conditions. Despite this, almost all twin studies focus on childhood. This twin study investigated the stability of autistic traits from childhood to early adulthood and explored the degree to which any stability could be explained by genetic or environmental factors. METHODS: Parents of over 2500 twin pairs completed questionnaires assessing autistic traits when twins were aged either 9 or 12 years and again when twins were aged 18...
2017: Molecular Autism
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