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Molecular Autism

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https://www.readbyqxmd.com/read/28736608/interrelationship-between-insistence-on-sameness-effortful-control-and-anxiety-in-adolescents-and-young-adults-with-autism-spectrum-disorder-asd
#1
Mirko Uljarević, Amanda L Richdale, David W Evans, Ru Ying Cai, Susan R Leekam
BACKGROUND: Both self-regulation and insistence on sameness (IS) are related to anxiety, which is a common feature of individuals with autism spectrum disorder (ASD). Here, we aimed to characterise the IS-self-regulation-anxiety interrelationship by investigating the potential contribution made by self-regulation, assessed via effortful control (EC), to the IS-anxiety relationship in a sample of adolescents and young adults with ASD. METHOD: Seventy-one older adolescents and younger adults with ASD (49 males, 22 females; Mage = 18...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28736607/typical-versus-delayed-speech-onset-influences-verbal-reporting-of-autistic-interests
#2
Liliane Chiodo, Steve Majerus, Laurent Mottron
BACKGROUND: The distinction between autism and Asperger syndrome has been abandoned in the DSM-5. However, this clinical categorization largely overlaps with the presence or absence of a speech onset delay which is associated with clinical, cognitive, and neural differences. It is unknown whether these different speech development pathways and associated cognitive differences are involved in the heterogeneity of the restricted interests that characterize autistic adults. METHOD: This study tested the hypothesis that speech onset delay, or conversely, early mastery of speech, orients the nature and verbal reporting of adult autistic interests...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28702161/bio-collections-in-autism-research
#3
REVIEW
Jamie Reilly, Louise Gallagher, June L Chen, Geraldine Leader, Sanbing Shen
Autism spectrum disorder (ASD) is a group of complex neurodevelopmental disorders with diverse clinical manifestations and symptoms. In the last 10 years, there have been significant advances in understanding the genetic basis for ASD, critically supported through the establishment of ASD bio-collections and application in research. Here, we summarise a selection of major ASD bio-collections and their associated findings. Collectively, these include mapping ASD candidate genes, assessing the nature and frequency of gene mutations and their association with ASD clinical subgroups, insights into related molecular pathways such as the synapses, chromatin remodelling, transcription and ASD-related brain regions...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28670439/prenatal-exposure-to-valproic-acid-increases-mir-132-levels-in-the-mouse-embryonic-brain
#4
Yuta Hara, Yukio Ago, Erika Takano, Shigeru Hasebe, Takanobu Nakazawa, Hitoshi Hashimoto, Toshio Matsuda, Kazuhiro Takuma
BACKGROUND: MicroRNAs, small non-coding RNAs, are highly expressed in the mammalian brain, and the dysregulation of microRNA levels may be involved in neurodevelopmental disorders such as autism spectrum disorder (ASD). In the present study, we examined whether prenatal valproic acid (VPA) exposure affects levels of microRNAs, especially the brain specific and enriched microRNAs, in the mouse embryonic brain. RESULTS: Prenatal exposure to VPA at E12.5 immediately increased miR-132 levels, but not miR-9 or miR-124 levels, in the male embryonic brain...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28670438/neuroanatomy-in-mouse-models-of-rett-syndrome-is-related-to-the-severity-of-mecp2-mutation-and-behavioral-phenotypes
#5
Rylan Allemang-Grand, Jacob Ellegood, Leigh Spencer Noakes, Julie Ruston, Monica Justice, Brian J Nieman, Jason P Lerch
BACKGROUND: Rett syndrome (RTT) is a neurodevelopmental disorder that predominantly affects girls. The majority of RTT cases are caused by de novo mutations in methyl-CpG-binding protein 2 (MECP2), and several mouse models have been created to further understand the disorder. In the current literature, many studies have focused their analyses on the behavioral abnormalities and cellular and molecular impairments that arise from Mecp2 mutations. However, limited efforts have been placed on understanding how Mecp2 mutations disrupt the neuroanatomy and networks of the brain...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28670437/use-of-clinical-chromosomal-microarray-in-chinese-patients-with-autism-spectrum-disorder-implications-of-a-copy-number-variation-involving-dpp10
#6
Annisa Shui Lam Mak, Annie Ting Gee Chiu, Gordon Ka Chun Leung, Christopher Chun Yu Mak, Yoyo Wing Yiu Chu, Gary Tsz Kin Mok, Wing Fai Tang, Kelvin Yuen Kwong Chan, Mary Hoi Yin Tang, Elizabeth Tak-Kwong Lau Yim, Kin Wai So, Victoria Qinchen Tao, Cheuk Wing Fung, Virginia Chun Nei Wong, Mohammed Uddin, So Lun Lee, Christian R Marshall, Stephen W Scherer, Anita Sik Yau Kan, Brian Hon Yin Chung
BACKGROUND: Array comparative genomic hybridization (aCGH) is recommended as a first-tier genetic test for children with autism spectrum disorder (ASD). However, interpretation of results can often be challenging partly due to the fact that copy number variants (CNVs) in non-European ASD patients are not well studied. To address this literature gap, we report the CNV findings in a cohort of Chinese children with ASD. METHODS: DNA samples were obtained from 258 Chinese ASD patients recruited from a child assessment center between January 2011 and August 2014...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28649315/effects-of-a-social-stimulus-on-gene-expression-in-a-mouse-model-of-fragile-x-syndrome
#7
Tiffany D Rogers, Allison M J Anacker, Travis M Kerr, C Gunnar Forsberg, Jing Wang, Bing Zhang, Jeremy Veenstra-VanderWeele
BACKGROUND: People with fragile X syndrome (FXS) often have deficits in social behavior, and a substantial portion meet criteria for autism spectrum disorder. Though the genetic cause of FXS is known to be due to the silencing of FMR1, and the Fmr1 null mouse model representing this lesion has been extensively studied, the contributions of this gene and its protein product, FMRP, to social behavior are not well understood. METHODS: Fmr1 null mice and wildtype littermates were exposed to a social or non-social stimulus...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28649314/hierarchical-cortical-transcriptome-disorganization-in-autism
#8
Michael V Lombardo, Eric Courchesne, Nathan E Lewis, Tiziano Pramparo
BACKGROUND: Autism spectrum disorders (ASD) are etiologically heterogeneous and complex. Functional genomics work has begun to identify a diverse array of dysregulated transcriptomic programs (e.g., synaptic, immune, cell cycle, DNA damage, WNT signaling, cortical patterning and differentiation) potentially involved in ASD brain abnormalities during childhood and adulthood. However, it remains unclear whether such diverse dysregulated pathways are independent of each other or instead reflect coordinated hierarchical systems-level pathology...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28649313/the-eu-aims-longitudinal-european-autism-project-leap-clinical-characterisation
#9
Tony Charman, Eva Loth, Julian Tillmann, Daisy Crawley, Caroline Wooldridge, David Goyard, Jumana Ahmad, Bonnie Auyeung, Sara Ambrosino, Tobias Banaschewski, Simon Baron-Cohen, Sarah Baumeister, Christian Beckmann, Sven Bölte, Thomas Bourgeron, Carsten Bours, Michael Brammer, Daniel Brandeis, Claudia Brogna, Yvette de Bruijn, Bhismadev Chakrabarti, Ineke Cornelissen, Flavio Dell' Acqua, Guillaume Dumas, Sarah Durston, Christine Ecker, Jessica Faulkner, Vincent Frouin, Pilar Garcés, Lindsay Ham, Hannah Hayward, Joerg Hipp, Rosemary J Holt, Johan Isaksson, Mark H Johnson, Emily J H Jones, Prantik Kundu, Meng-Chuan Lai, Xavier Liogier D'ardhuy, Michael V Lombardo, David J Lythgoe, René Mandl, Luke Mason, Andreas Meyer-Lindenberg, Carolin Moessnang, Nico Mueller, Laurence O'Dwyer, Marianne Oldehinkel, Bob Oranje, Gahan Pandina, Antonio M Persico, Barbara Ruggeri, Amber N V Ruigrok, Jessica Sabet, Roberto Sacco, Antonia San Jóse Cáceres, Emily Simonoff, Roberto Toro, Heike Tost, Jack Waldman, Steve C R Williams, Marcel P Zwiers, Will Spooren, Declan G M Murphy, Jan K Buitelaar
BACKGROUND: The EU-AIMS Longitudinal European Autism Project (LEAP) is to date the largest multi-centre, multi-disciplinary observational study on biomarkers for autism spectrum disorder (ASD). The current paper describes the clinical characteristics of the LEAP cohort and examines age, sex and IQ differences in ASD core symptoms and common co-occurring psychiatric symptoms. A companion paper describes the overall design and experimental protocol and outlines the strategy to identify stratification biomarkers...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28649312/the-eu-aims-longitudinal-european-autism-project-leap-design-and-methodologies-to-identify-and-validate-stratification-biomarkers-for-autism-spectrum-disorders
#10
Eva Loth, Tony Charman, Luke Mason, Julian Tillmann, Emily J H Jones, Caroline Wooldridge, Jumana Ahmad, Bonnie Auyeung, Claudia Brogna, Sara Ambrosino, Tobias Banaschewski, Simon Baron-Cohen, Sarah Baumeister, Christian Beckmann, Michael Brammer, Daniel Brandeis, Sven Bölte, Thomas Bourgeron, Carsten Bours, Yvette de Bruijn, Bhismadev Chakrabarti, Daisy Crawley, Ineke Cornelissen, Flavio Dell' Acqua, Guillaume Dumas, Sarah Durston, Christine Ecker, Jessica Faulkner, Vincent Frouin, Pilar Garces, David Goyard, Hannah Hayward, Lindsay M Ham, Joerg Hipp, Rosemary J Holt, Mark H Johnson, Johan Isaksson, Prantik Kundu, Meng-Chuan Lai, Xavier Liogier D'ardhuy, Michael V Lombardo, David J Lythgoe, René Mandl, Andreas Meyer-Lindenberg, Carolin Moessnang, Nico Mueller, Laurence O'Dwyer, Marianne Oldehinkel, Bob Oranje, Gahan Pandina, Antonio M Persico, Amber N V Ruigrok, Barbara Ruggeri, Jessica Sabet, Roberto Sacco, Antonia San José Cáceres, Emily Simonoff, Roberto Toro, Heike Tost, Jack Waldman, Steve C R Williams, Marcel P Zwiers, Will Spooren, Declan G M Murphy, Jan K Buitelaar
BACKGROUND: The tremendous clinical and aetiological diversity among individuals with autism spectrum disorder (ASD) has been a major obstacle to the development of new treatments, as many may only be effective in particular subgroups. Precision medicine approaches aim to overcome this challenge by combining pathophysiologically based treatments with stratification biomarkers that predict which treatment may be most beneficial for particular individuals. However, so far, we have no single validated stratification biomarker for ASD...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28638592/evaluating-the-quality-of-peer-interactions-in-children-and-adolescents-with-autism-with-the-penn-interactive-peer-play-scale-pipps
#11
Rebecca M Jones, Andrew Pickles, Catherine Lord
BACKGROUND: A core difficulty for individuals with autism is making friends and successfully engaging and interacting with peers. The majority of measures to assess peer interactions are observations in a school setting or self-report. The present study examined the convergent validity of using a teacher rating scale, the Penn Interactive Peer Play Scale (PIPPS), for collecting information about the quality of peer interactions at school. METHODS: Teachers completed the PIPPS for 107 children with ASD when the child was 9 and 13 years of age...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28638591/replicable-in-vivo-physiological-and-behavioral-phenotypes-of-the-shank3b-null-mutant-mouse-model-of-autism
#12
Sameer C Dhamne, Jill L Silverman, Chloe E Super, Stephen H T Lammers, Mustafa Q Hameed, Meera E Modi, Nycole A Copping, Michael C Pride, Daniel G Smith, Alexander Rotenberg, Jacqueline N Crawley, Mustafa Sahin
BACKGROUND: Autism spectrum disorder (ASD) is a clinically and biologically heterogeneous condition characterized by social, repetitive, and sensory behavioral abnormalities. No treatments are approved for the core diagnostic symptoms of ASD. To enable the earliest stages of therapeutic discovery and development for ASD, robust and reproducible behavioral phenotypes and biological markers are essential to establish in preclinical animal models. The goal of this study was to identify electroencephalographic (EEG) and behavioral phenotypes that are replicable between independent cohorts in a mouse model of ASD...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28630661/intrainsular-connectivity-and-somatosensory-responsiveness-in-young-children-with-asd
#13
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
#14
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
#15
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
#16
(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
#17
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
#18
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
#19
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
#20
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
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