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Molecular Autism

Teresa Tavassoli, Anne Brandes-Aitken, Robyn Chu, Lisa Porter, Sarah Schoen, Lucy Jane Miller, Molly Rae Gerdes, Julia Owen, Pratik Mukherjee, Elysa J Marco
Background: Sensory processing difficulties are common across neurodevelopmental disorders. Thus, reliable measures are needed to understand the biological underpinnings of these differences. This study aimed to define a scoring methodology specific to auditory (AOR) and tactile (TOR) over-responsivity. Second, in a pilot cohort using MRI Diffusion Tensor Imaging, we performed a proof of concept study of whether children with AOR showed measurable differences in their white matter integrity...
2019: Molecular Autism
David M James, Robert A Kozol, Yuji Kajiwara, Adam L Wahl, Emily C Storrs, Joseph D Buxbaum, Mason Klein, Baharak Moshiree, Julia E Dallman
Background and aims: Autism spectrum disorder (ASD) is currently estimated to affect more than 1% of the world population. For people with ASD, gastrointestinal (GI) distress is a commonly reported but a poorly understood co-occurring symptom. Here, we investigate the physiological basis for GI distress in ASD by studying gut function in a zebrafish model of Phelan-McDermid syndrome (PMS), a condition caused by mutations in the SHANK3 gene. Methods: To generate a zebrafish model of PMS, we used CRISPR/Cas9 to introduce clinically related C-terminal frameshift mutations in shank3a and shank3b zebrafish paralogues ( shank3abΔC )...
2019: Molecular Autism
Adi Aran, Maya Eylon, Moria Harel, Lola Polianski, Alina Nemirovski, Sigal Tepper, Aviad Schnapp, Hanoch Cassuto, Nadia Wattad, Joseph Tam
Background: The endocannabinoid system (ECS) is a major regulator of synaptic plasticity and neuromodulation. Alterations of the ECS have been demonstrated in several animal models of autism spectrum disorder (ASD). In some of these models, activating the ECS rescued the social deficits. Evidence for dysregulations of the ECS in human ASD are emerging, but comprehensive assessments and correlations with disease characteristics have not been reported yet. Methods: Serum levels of the main endocannabinoids, N- arachidonoylethanolamine (AEA or anandamide) and 2-arachidonoylglycerol (2-AG), and their related endogenous compounds, arachidonic acid (AA), N -palmitoylethanolamine (PEA), and N -oleoylethanolamine (OEA), were analyzed by liquid chromatography/tandem mass spectrometry in 93 children with ASD (age = 13...
2019: Molecular Autism
Manhai Long, Mandana Ghisari, Lisbeth Kjeldsen, Maria Wielsøe, Bent Nørgaard-Pedersen, Erik Lykke Mortensen, Morsi W Abdallah, Eva C Bonefeld-Jørgensen
Background: Evidence has indicated that some non-inherited factors such as exposure to environmental pollutants are associated with neurodevelopment disorders like autism spectrum disorder (ASD). Studies report that endocrine disrupting compounds (EDCs), including polychlorinated biphenyls, organochlorine pesticides, perfluoroalkyl substances (PFAS), and some metals, have adverse effects on the fetal neurodevelopment. The aim of this study was to measure the amniotic fluid (AF) levels of EDCs and metals as well as the receptor transactivities induced by AF and investigate the possible link between prenatal exposure to EDCs and heavy metals and ASD risk...
2019: Molecular Autism
Terisa P Gabrielsen, Jeff S Anderson, Kevin G Stephenson, Jonathan Beck, Jace B King, Ryan Kellems, David N Top, Nicholas C C Russell, Emily Anderberg, Rebecca A Lundwall, Blake Hansen, Mikle South
Background: Functional neuroimaging research in autism spectrum disorder has reported patterns of decreased long-range, within-network, and interhemispheric connectivity. Research has also reported increased corticostriatal connectivity and between-network connectivity for default and attentional networks. Past studies have excluded individuals with autism and low verbal and cognitive performance (LVCP), so connectivity in individuals more significantly affected with autism has not yet been studied...
2018: Molecular Autism
Maria Rosanna Bronzuoli, Roberta Facchinetti, Davide Ingrassia, Michela Sarvadio, Sara Schiavi, Luca Steardo, Alexei Verkhratsky, Viviana Trezza, Caterina Scuderi
Background: Neuroglial cells that provide homeostatic support and form defence of the nervous system contribute to all neurological disorders. We analyzed three major types of neuroglia, astrocytes, oligodendrocytes, and microglia in the brains of an animal model of autism spectrum disorder, in which rats were exposed prenatally to antiepileptic and mood stabilizer drug valproic acid; this model being of acknowledged clinical relevance. Methods: We tested the autistic-like behaviors of valproic acid-prenatally exposed male rats by performing isolation-induced ultrasonic vocalizations, the three-chamber test, and the hole board test...
2018: Molecular Autism
Qiong Xu, Yuan-Yuan Liu, Xiaoming Wang, Guo-He Tan, Hui-Ping Li, Samuel W Hulbert, Chun-Yang Li, Chun-Chun Hu, Zhi-Qi Xiong, Xiu Xu, Yong-Hui Jiang
Background: Mutations in CHD8 , chromodomain helicase DNA-binding protein 8, are among the most replicated and common findings in genetic studies of autism spectrum disorder (ASD). The CHD8 protein is believed to act as a transcriptional regulator by remodeling chromatin structure and recruiting histone H1 to target genes. The mechanism by which deficiency of CHD8 causes ASD has not been fully elucidated. Methods: We examined the expression of CHD8 in human and mouse brains using both immunohistochemistry and RNA in situ hybridization...
2018: Molecular Autism
Hui Guo, Tianyun Wang, Huidan Wu, Min Long, Bradley P Coe, Honghui Li, Guanglei Xun, Jianjun Ou, Biyuan Chen, Guiqin Duan, Ting Bai, Ningxia Zhao, Yidong Shen, Yun Li, Yazhe Wang, Yu Zhang, Carl Baker, Yanling Liu, Nan Pang, Lian Huang, Lin Han, Xiangbin Jia, Cenying Liu, Hailun Ni, Xinyi Yang, Lu Xia, Jingjing Chen, Lu Shen, Ying Li, Rongjuan Zhao, Wenjing Zhao, Jing Peng, Qian Pan, Zhigao Long, Wei Su, Jieqiong Tan, Xiaogang Du, Xiaoyan Ke, Meiling Yao, Zhengmao Hu, Xiaobing Zou, Jingping Zhao, Raphael A Bernier, Evan E Eichler, Kun Xia
Background: We previously performed targeted sequencing of autism risk genes in probands from the Autism Clinical and Genetic Resources in China (ACGC) (phase I). Here, we expand this analysis to a larger cohort of patients (ACGC phase II) to better understand the prevalence, inheritance, and genotype-phenotype correlations of likely gene-disrupting (LGD) mutations for autism candidate genes originally identified in cohorts of European descent. Methods: We sequenced 187 autism candidate genes in an additional 784 probands and 85 genes in 599 probands using single-molecule molecular inversion probes...
2018: Molecular Autism
Remco T Molenhuis, Hilgo Bruining, Myrna J V Brandt, Petra E van Soldt, Hanifa J Abu-Toamih Atamni, J Peter H Burbach, Fuad A Iraqi, Richard F Mott, Martien J H Kas
Background: Animal models for neurodevelopmental disorders (NDD) generally rely on a single genetic mutation on a fixed genetic background. Recent human genetic studies however indicate that a clinical diagnosis with ASDAutism Spectrum Disorder (ASD) is almost always associated with multiple genetic fore- and background changes. The translational value of animal model studies would be greatly enhanced if genetic insults could be studied in a more quantitative framework across genetic backgrounds...
2018: Molecular Autism
Yu Veronica Sui, Jeffrey Donaldson, Laura Miles, James S Babb, Francisco Xavier Castellanos, Mariana Lazar
Background: The corpus callosum is implicated in the pathophysiology of autism spectrum disorder (ASD). However, specific structural deficits and underlying mechanisms are yet to be well defined. Methods: We employed diffusional kurtosis imaging (DKI) metrics to characterize white matter properties within five discrete segments of the corpus callosum in 17 typically developing (TD) adults and 16 age-matched participants with ASD without co-occurring intellectual disability (ID)...
2018: Molecular Autism
Fang Liu, Kayla Horton-Sparks, Vanessa Hull, Robert W Li, Verónica Martínez-Cerdeño
Background: Gut microbiota has the capacity to impact the regular function of the brain, which can in turn affect the composition of microbiota. Autism spectrum disorder (ASD) patients suffer from gastrointestinal problems and experience changes in gut microbiota; however, it is not yet clear whether the change in the microbiota associated with ASD is a cause or a consequence of the disease. Methods: We have investigated the species richness and microbial composition in a valproic acid (VPA)-induced rat model autism...
2018: Molecular Autism
Sarah L Barrett, Mirko Uljarević, Catherine R G Jones, Susan R Leekam
Background: The majority of previous research into restricted and repetitive behaviours (RRBs) has focussed on children, partly due to a lack of suitable measures for RRBs in adults. This study aimed to explore the psychometric properties of the Adult Repetitive Behaviour Questionnaire-2 (RBQ-2A) in a large sample of autistic adults using a self-report questionnaire method. Methods: The RBQ-2A and Autism-Spectrum Quotient (AQ) were administered online. Data from 275 autistic adults aged 18-66 ( M  = 36...
2018: Molecular Autism
Miho Tanaka, Atsushi Sato, Shinya Kasai, Yoko Hagino, Hiroko Kotajima-Murakami, Hirofumi Kashii, Yukio Takamatsu, Yasumasa Nishito, Masumi Inagaki, Masashi Mizuguchi, F Scott Hall, George R Uhl, Dennis Murphy, Ichiro Sora, Kazutaka Ikeda
Background: Hyperserotonemia in the brain is suspected to be an endophenotype of autism spectrum disorder (ASD). Reducing serotonin levels in the brain through modulation of serotonin transporter function may improve ASD symptoms. Methods: We analyzed behavior and gene expression to unveil the causal mechanism of ASD-relevant social deficits using serotonin transporter ( Sert ) knockout mice. Results: Social deficits were observed in both heterozygous knockout mice (HZ) and homozygous knockout mice (KO), but increases in general anxiety were only observed in KO mice...
2018: Molecular Autism
Lucia Capano, Annie Dupuis, Jessica Brian, Deepali Mankad, Lisa Genore, Rianne Hastie Adams, Sharon Smile, Toni Lui, Dina Odrobina, Jane A Foster, Evdokia Anagnostou
Background: Pioglitazone is a promising compound for treatment of core autism spectrum disorder (ASD) symptoms as it targets multiple relevant pathways, including immune system alterations. Objective: This pilot study aimed to elucidate the maximum tolerated dose, safety, preliminary evidence of efficacy, and appropriate outcome measures in autistic children ages 5-12 years old. Methods: We conducted a 16-week prospective cohort, single blind, single arm, 2-week placebo run-in, dose-finding study of pioglitazone...
2018: Molecular Autism
Nisim Perets, Stav Hertz, Michael London, Daniel Offen
Autism spectrum disorders (ASD) are neurodevelopmental disorders characterized by three core symptoms that include social interaction deficits, cognitive inflexibility, and communication disorders. They have been steadily increasing in children over the past several years, with no effective treatment. BTBR T+tf/J (BTBR) mice are an accepted model of evaluating autistic-like behaviors as they present all core symptoms of ASD. We have previously shown that transplantation of human bone marrow mesenchymal stem cells (MSC) to the lateral ventricles of BTBR mice results in long lasting improvement in their autistic behavioral phenotypes...
2018: Molecular Autism
Denise Haslinger, Regina Waltes, Afsheen Yousaf, Silvia Lindlar, Ines Schneider, Chai K Lim, Meng-Miao Tsai, Boyan K Garvalov, Amparo Acker-Palmer, Nicolas Krezdorn, Björn Rotter, Till Acker, Gilles J Guillemin, Simone Fulda, Christine M Freitag, Andreas G Chiocchetti
Background: Altered neuronal development is discussed as the underlying pathogenic mechanism of autism spectrum disorders (ASD). Copy number variations of 16p11.2 have recurrently been identified in individuals with ASD. Of the 29 genes within this region, quinolinate phosphoribosyltransferase ( QPRT ) showed the strongest regulation during neuronal differentiation of SH-SY5Y neuroblastoma cells. We hypothesized a causal relation between this tryptophan metabolism-related enzyme and neuronal differentiation...
2018: Molecular Autism
Sophie Carruthers, Emma Kinnaird, Alokananda Rudra, Paula Smith, Carrie Allison, Bonnie Auyeung, Bhismadev Chakrabarti, Akio Wakabayashi, Simon Baron-Cohen, Ioannis Bakolis, Rosa A Hoekstra
Background: There is a global need for brief screening instruments that can identify key indicators for autism to support frontline professionals in their referral decision-making. Although a universal set of conditions, there may be subtle differences in expression, identification and reporting of autistic traits across cultures. In order to assess the potential for any measure for cross-cultural screening use, it is important to understand the relative performance of such measures in different cultures...
2018: Molecular Autism
Danielle Smith, Danielle Ropar, Harriet A Allen
Background: Experimental and longitudinal evidence suggests that motor proficiency plays an important role in the development of social skills. However, stereopsis, or depth perception, may also play a fundamental role in social skill development either indirectly through its impact on motor skills or through a more direct route. To date, no systematic study has investigated the relationship between social skills and motor ability in the general adult population, and whether poor stereopsis may contribute to this association...
2018: Molecular Autism
Alain C Burette, Matthew C Judson, Alissa N Li, Edward F Chang, William W Seeley, Benjamin D Philpot, Richard J Weinberg
Background: Loss of UBE3A causes Angelman syndrome, whereas excess UBE3A activity appears to increase the risk for autism. Despite this powerful association with neurodevelopmental disorders, there is still much to be learned about UBE3A, including its cellular and subcellular organization in the human brain. The issue is important, since UBE3A's localization is integral to its function. Methods: We used light and electron microscopic immunohistochemistry to study the cellular and subcellular distribution of UBE3A in the adult human cerebral cortex...
2018: Molecular Autism
James E A Hughes, Jamie Ward, Elin Gruffydd, Simon Baron-Cohen, Paula Smith, Carrie Allison, Julia Simner
Background: Savant syndrome is a condition where prodigious talent can co-occur with developmental conditions such as autism spectrum conditions (autism). It is not yet clear why some autistic people develop savant skills while others do not. Methods: We tested three groups of adults: autistic individuals who have savant skills, autistic individuals without savant skills, and typical controls without autism or savant syndrome. In experiment 1, we investigated the cognitive and behavioural profiles of these three groups by asking participants to complete a battery of self-report measures of sensory sensitivity, obsessional behaviours, cognitive styles, and broader autism-related traits including social communication and systemising...
2018: Molecular Autism
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