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Molecular Autism

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https://www.readbyqxmd.com/read/28824796/prenatal-levonorgestrel-exposure-induces-autism-like-behavior-in-offspring-through-er%C3%AE-suppression-in-the-amygdala
#1
Yuanlin Zou, Qiaomei Lu, Dan Zheng, Zhigang Chu, Zhaoyu Liu, Haijia Chen, Qiongfang Ruan, Xiaohu Ge, Ziyun Zhang, Xiaoyan Wang, Wenting Lou, Yongjian Huang, Yifei Wang, Xiaodong Huang, Zhengxiang Liu, Weiguo Xie, Yikai Zhou, Paul Yao
BACKGROUND: Autism spectrum disorder (ASD) is characterized by impairments in social communication and restricted or repetitive behaviors or interests. ASD is now diagnosed in more than one out of 100 children and is biased towards males by a ratio of at least 4:1. Many possible explanations and potential causative factors have been reported, such as genetics, sex, and environmental factors, although the detailed mechanisms of ASD remain unclear. METHODS: The dams were exposed through oral contraceptives to either vehicle control (VEH) alone, levonorgestrel (LNG) alone, ethinyl estradiol (EE) alone, or a combination of LNG/EE for 21 days during their pregnancy...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28824795/attitudes-toward-risk-and-ambiguity-in-patients-with-autism-spectrum-disorder
#2
Junya Fujino, Shisei Tei, Ryu-Ichiro Hashimoto, Takashi Itahashi, Haruhisa Ohta, Chieko Kanai, Rieko Okada, Manabu Kubota, Motoaki Nakamura, Nobumasa Kato, Hidehiko Takahashi
Although the ability to make optimal decisions under uncertainty is an integral part of everyday life, individuals with autism spectrum disorder (ASD) frequently report that they experience difficulties with this skill. In behavioral economics, researchers distinguish two types of uncertainty to understand decision-making in this setting: risk (known probabilities) and ambiguity (unknown probabilities). However, it remains unclear how individuals with ASD behave under risk and ambiguity, despite growing evidence of their altered decision-making under uncertainty...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28808521/replicative-genetic-association-study-between-functional-polymorphisms-in-avpr1a-and-social-behavior-scales-of-autism-spectrum-disorder-in-the-korean-population
#3
So Young Yang, Soon Ae Kim, Gang Min Hur, Mira Park, Jong-Eun Park, Hee Jeong Yoo
BACKGROUND: Arginine vasopressin has been shown to affect social and emotional behaviors, which is mediated by the arginine vasopressin receptor (AVPR1A). Genetic polymorphisms in the AVPR1A promoter region have been identified to be associated with susceptibility to social deficits in autism spectrum disorder (ASD). We hypothesize that alleles of polymorphisms in the promoter region of AVPR1A may differentially interact with certain transcriptional factors, which in turn affect quantitative traits, such as sociality, in children with autism...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28785396/identification-of-autism-related-mecp2-mutations-by-whole-exome-sequencing-and-functional-validation
#4
Zhu Wen, Tian-Lin Cheng, Gai-Zhi Li, Shi-Bang Sun, Shun-Ying Yu, Yi Zhang, Ya-Song Du, Zilong Qiu
BACKGROUND: Methyl-CpG-binding protein-2 (MeCP2) is a critical regulator for neural development. Either loss- or gain-of-function leads to severe neurodevelopmental disorders, such as Rett syndrome (RTT) and autism spectrum disorder (ASD). We set out to screen for MECP2 mutations in patients of ASD and determine whether these autism-related mutations may compromise the proper function of MeCP2. METHODS: Whole-exome sequencing was performed to screen MECP2 and other ASD candidate genes for 120 patients diagnosed with ASD...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28770039/globally-weaker-and-topologically-different-resting-state-connectivity-in-youth-with-autism
#5
Benjamin E Yerys, John D Herrington, Theodore D Satterthwaite, Lisa Guy, Robert T Schultz, Danielle S Bassett
BACKGROUND: There is a lack of agreement about functional connectivity differences in individuals with autism spectrum disorder (ASD). Studies using absolute strength have found reduced connectivity, while those using relative strength--a measure of system topology--reveal mostly enhanced connectivity. We hypothesized that mixed findings may be driven by the metric of functional connectivity. METHODS: Resting-state echo planar 3 T functional magnetic resonance imaging scans were acquired on a Siemens Verio Scanner from 6 to 17-year-old youth with ASD (n = 81) and a matched typically developing control group (n = 82)...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28770038/erratum-to-neural-synchronization-deficits-linked-to-cortical-hyper-excitability-and-auditory-hypersensitivity-in-fragile-x-syndrome
#6
Lauren E Ethridge, Stormi P White, Matthew W Mosconi, Jun Wang, Ernest V Pedapati, Craig A Erickson, Matthew J Byerly, John A Sweeney
[This corrects the article DOI: 10.1186/s13229-017-0140-1.].
2017: Molecular Autism
https://www.readbyqxmd.com/read/28770037/adhd-related-symptoms-and-attention-profiles-in-the-unaffected-siblings-of-probands-with-autism-spectrum-disorder-focus-on-the-subtypes-of-autism-and-asperger-s-disorder
#7
Yi-Ling Chien, Miao-Chun Chou, Yen-Nan Chiu, Wen-Jiun Chou, Yu-Yu Wu, Wen-Che Tsai, Susan Shur-Fen Gau
BACKGROUND: The presence of attention-deficit/hyperactive disorder (ADHD) symptoms and impaired attention performance are commonly noted in individuals with autism spectrum disorder (ASD). However, little is known about attention performance in their unaffected siblings. This study aimed to investigate the ADHD-related traits and attention performance in unaffected siblings of probands with autism and Asperger syndrome (AS), as well as the clinical correlates of ADHD-related traits. METHODS: We assessed the intention, hyperactivity-impulsivity, and oppositional symptoms, and attention profiles of 199 probands with a diagnosis of ASD (122 autism, 77 AS), their unaffected siblings, and 196 typically developing controls (TD) by their parents' reports on the ADHD-related symptoms and the Connors' Continuous Performance Test (CCPT), respectively...
2017: Molecular Autism
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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