Case report: A novel frameshift mutation in BRSK2 causes autism in a 16-year old Chinese boy by Yu Hu, Yu Hu, Miao Li, Miao Li, Yanmei Shen, Tianyun Wang, Tianyun Wang, Tianyun Wang, Tianyun Wang, Qiwei Liu, Qiwei Liu, Qiwei Liu, Zhonghua Lu, Zhonghua Lu, Hong Wang, Hong Wang, Xuerong Luo, Lixin Yang, Lixin Yang

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Clinical outcomes and associated predictors of early intervention in autism spectrum disorder: a study protocol by Katrina Williams, Valsamma Eapen, Helen Heussler, Cheryl Dissanayake, Kate Cameron, Natalie Silove, Anne Masi, Tasha Alach, Kathryn Fordyce, Grace Frost, Rachel Grove, Rhylee Sulek, Madonna Tucker

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Use of Machine Learning to Investigate the Quantitative Checklist for Autism in Toddlers (Q-CHAT) towards Early Autism Screening by Gennaro Tartarisco, Giovanni Cicceri, Davide Di Pietro, Elisa Leonardi, Stefania Aiello, Flavia Marino, Flavia Chiarotti, Antonella Gagliano, Giuseppe Maurizio Arduino, Fabio Apicella, Filippo Muratori, Dario Bruneo, Carrie Allison, Simon Baron Cohen, David Vagni, Giovanni Pioggia, Liliana Ruta

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Recommendations for uniform terminology in animal-assisted services (AAS) by Amy Johnson Binder, Nancy Parish-Plass, Meg Kirby, Melissa Winkle, Daniela Plesa Skwerer, Laura Ackerman, Cindy Brosig, Wendy Coombe, Esther Delisle, Marie-Jose Enders-Slegers, Jo-Ann Fowler, Laura Hey, Tiffani Howell, Michael Kaufmann, Mariana Kienast, Miyako Kinoshita, Debbie Ngai, Brigitte Wijnen

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Feasibility and acceptability of autism adapted safety plans: an external pilot randomised controlled trialResearch in context by Jacqui Rodgers, Sarah Cassidy, Mirabel Pelton, Jane Goodwin, Janelle Wagnild, Nawaraj Bhattarai, Isabel Gordon, Colin Wilson, Phil Heslop, Emmanuel Ogundimu, Rory C. O’Connor, Sheena E. Ramsay, Ellen Townsend, Luke Vale

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Autism spectrum disorder research: knowledge mapping of progress and focus between 2011 and 2022 by Miaomiao Jiang, Tianlan Lu, Kang Yang, Xianjing Li, Liyang Zhao, Dai Zhang, Dai Zhang, Dai Zhang, Jun Li, Lifang Wang

“…Over the past decade, genetic variants associated with ASD have gained increasing attention, and immune dysbiosis and gut microbiota are the new development frontiers after 2015.ConclusionThis study uses a bibliometric approach to visualize and quantitatively describe autism research over the last decade. Neuroscience, genetics, brain imaging studies, and gut microbiome studies improve our understanding of autism. …”
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Autism spectrum disorder symptom expression in individuals with 3q29 deletion syndrome by Rebecca M. Pollak, Jordan E. Pincus, T. Lindsey Burrell, Joseph F. Cubells, Cheryl Klaiman, Melissa M. Murphy, Celine A. Saulnier, Elaine F. Walker, Stormi Pulver White, Jennifer G. Mulle

“…Four matched comparators for each subject were ascertained from the National Database for Autism Research. Item-level scores on the ADOS-2 and ADI-R were compared between subjects with 3q29del and matched comparators. …”
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Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM by Annelieke R. Müller, Michiel A. J. Luijten, Lotte Haverman, Wendela L. de Ranitz-Greven, Peter Janssens, André B. Rietman, Leontine W. ten Hoopen, Laura C. G. de Graaff, Marie-Claire de Wit, Anna C. Jansen, Tanjala Gipson, Jamie K. Capal, Petrus J. de Vries, Agnies M. van Eeghen

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Transcriptional cartography integrates multiscale biology of the human cortex by Konrad Wagstyl, Sophie Adler, Jakob Seidlitz, Simon Vandekar, Travis T Mallard, Richard Dear, Alex R DeCasien, Theodore D Satterthwaite, Siyuan Liu, Petra E Vértes, Russell T Shinohara, Aaron Alexander-Bloch, Daniel H Geschwind, Armin Raznahan

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Age-dependent white matter microstructural disintegrity in autism spectrum disorder by Clara F. Weber, Clara F. Weber, Evelyn M. R. Lake, Stefan P. Haider, Stefan P. Haider, Ali Mozayan, Pratik Mukherjee, Dustin Scheinost, Nigel S. Bamford, Laura Ment, Todd Constable, Seyedmehdi Payabvash

“…N = 583 subjects from four studies from the National Database of Autism Research were included, representing four different age groups: (1) A Longitudinal MRI Study of Infants at Risk of Autism [infants, median age: 7 (interquartile range 1) months, n = 155], (2) Biomarkers of Autism at 12 months [toddlers, 32 (11)m, n = 102], (3) Multimodal Developmental Neurogenetics of Females with ASD [adolescents, 13.1 (5.3) years, n = 230], (4) Atypical Late Neurodevelopment in Autism [young adults, 19.1 (10.7)y, n = 96]. …”
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Analysing the use trends of new psychoactive substances using wastewater-based epidemiology in Europe: A systematic review by Gabriel Gatica-Bahamonde, Elizabeth Alexandra Godynyuk, Jessica Neicun, Emmert Roberts, Mehmet Mikail Tangerli, Robin van Kessel, Katarzyna Czabanowska, Keith Humphreys, Andres Roman-Urrestarazu

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Observational cohort study of perinatal outcomes of women with COVID-19 by Sami Al-Hajjar, Lina Ibrahim, Wesam Kurdi, Maha Tulbah, Maha Alnemer, Mohammed Bin Jabr, Weam Elsaidawi, Abdulaziz Binmanee, Mohanned Ali, Hanifa Bukhari, Leena Altuwaijri, Raneem Allaboon, Reem Alghamdi, Bashayer Saeed, Yasser Adi, Fatima Alhamlan

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5th National Congress of the Italian Society of Physiotherapy by Alessandro Aina, Marco Barbero, Barbara Cagnie, Elena Castelli, Chad Cook, Silvano Ferrari, Andrea Foglia, Paolo Bizzarri, Donatella Giraudo, Chris Littlewood, Paolo Pillastrini, Daniele Piscitelli, Michele Romano, Andrea Tettamanti, Carla Vanti, Stefano Vercelli, Lennard Voogt, Aceto Maria, Spina Emanuele, Paone Paolo, Silvestre Francesco, Carotenuto Antonio, Cerillo Ilaria, Orefice Giuseppe, Bassi Raffaele, Fiorito Serena, Aina Alessandro, M. Bonfanti, M. Pasquetti, Bortolami Arianna, Pillastrini Paolo, Vanti Carla, D. Brioschi, M. Vitali, A. Pedretti, G. Fraschini, A. Tettamanti, G. Castellini, S. Gianola, S. Bonovas, G. Banfi, L. Moja, Greta Castellini, Silvia Gianola, Pamela Frigerio, Michela Agostini, Rosa Bolotta, Davide Corbetta, Monica Gasparini, Paolo Gozzer, Erica Guariento, Linda Li, Valentina Pecoraro, Valeria Sirtori, Andrea Turolla, A. Andreano, Lorenzo Moja, G Castellini, S Gianola, S Bonovas, L Moja, Alessandro Chiarotto, Caroline B. Terwee, Maarten Boers, Raymond W. Ostelo, Alessandro Chiarotto, Lara J. Maxwell, Caroline B. Terwee, George A. Wells, Peter Tugwell, Raymond W. Ostelo, Alessandro Chiarotto, Ron Clijsen, Cesar Fernandez-de-las-Penas, Marco Barbero, Ciceri Matteo, Rossetti Sara, Vercelli Stefano, M. Cislaghi, G. Penone, G. Marinelli, G. Rezzan, G. Melegati, R. Gatti, Colombo Claudio, Tolosa Francesca, Andrea Moriondo, Vercelli Stefano, Stefano Doronzio, Matteo Paci, Silvano Ferrari, Carla Vanti, Marco Monticone, Silvano Ferrari, Carla Vanti, Marco Monticone, Garzonio Fabiola, Zanetta Anna, Bargeri Serena, Cerone Giorgia, Sartorio Francesco, Filippo Ghirlanda, Alessandro Schneebeli, Corrado Cescon, Marco Barbero, G. Gioia, S. Faccendini, A. Aina, A. Tettamanti, G. Granzotto, L. Coppola, I. Gava, M. Frassinelli, F. Gattinoni, Lorenzo Guidotti, Marco Postiglione, Bruna Lombardi, Matteo Paci, Diego Leoni, Davide Storer, Roberto Gatti, Michele Egloff, Marco Barbero, Magno Tiziano, Tettamanti Andrea, Daniele Maremmani, Sebastiano Cencini, Giuseppe Plebani, Federica Moresi, Marco Barbero, Matteo Isnardi, Alberto Gallace, Corrado Cescon, Roberto Gatti, N. Moretti, Maselli, M. Testa, Stefano Negrini, Sabrina Donzelli, Francesco Saveri, Alessandra Negrini, Silvana Parzini, Michele Romano, Fabio Zaina, Leonardo Nesi, Francesco Ferrarello, Valeria Anna Maria Bianchi, Matteo Paci, Matteo Paci, Luca Nannetti, Bruna Lombardi, Giuditta Mini, Mariangela Marchettini, Francesco Ferrarello, Matteo Paci, Fabio Piccolo, Federica Agosta, Elisabetta Sarasso, Paola Adamo, Federico Temporiti, Andrea Falini, Roberto Gatti, Massimo Filippi, Daniele Piscitelli, Roberto Meroni, Leonardo Pellicciari, Marco A. Mondelli, Thomas Favaron, Cesare G. Cerri, Enrico A. Tallarita, Ravizzotti Elisa, Vercelli Stefano, Rossetti Sara, Ciceri Matteo, Vercelli Stefano, Elisabetta Sarasso, Federica Agosta, Aleksandra Tomić, Silvia Basaia, Nataša Dragašević, Marina Svetel, Massimiliano Copetti, Vladimir S. Kostic, Massimo Filippi, Francesco Saveri, Michele Romano, Matteo Mastrantonio, Alessandra Negrini, Fabio Zaina, Negrini Stefano, Alessandro Schneebeli, Greta Castellini, Valentina Redaelli, Emiliano Soldini, Marco Barbero, M. Segat, O. Casonato, M. Margelli, S. Pillon, V. Spunton, R. Fenini, R. Garofalo, M. Conti, G. Valagussa, V. Balatti, L. Trentin, S. Melli, M. Norsi, E. Grossi, Massimiliano Vanossi, Francesco Saveri, Michele Romano, Carla Vanti, Sara Taioli, Ivan Gardenghi, Lucia Bertozzi, Anna Rosso, Antonio Romeo, Paolo Pillastrini, Carla Vanti, Silvano Ferrari, Martina Ruggeri, Marco Monticone, Carla Vanti, Bellini Filippo, Cristina Conti, Federica Faresin, Martina Ruggeri, Raffaella Piccarreta, Silvano Ferrari, Villanova Luca, Vercelli Stefano, Violini Claudia, Cenci Marco Joseph, Delconte Carmen, Pisano Fabrizio, S. Youssef, M. Montesano, M. Picardi, P. De Giampaulis, M. Corbo, L. Pisani, Zanetta Anna, Garzonio Fabiola, Ruella Carolina, Sartorio Francesco

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Commonly used genomic arrays may lose information due to imperfect coverage of discovered variants for autism spectrum disorder by Michael Yao, Jason Daniels, Luke Grosvenor, Valerie Morrill, Jason I. Feinberg, Kelly M. Bakulski, Joseph Piven, Heather C. Hazlett, Mark D. Shen, Craig Newschaffer, Kristen Lyall, Rebecca J. Schmidt, Irva Hertz-Picciotto, Lisa A. Croen, M. Daniele Fallin, Christine Ladd-Acosta, Heather Volk, Kelly Benke

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Autism spectrum disorder-specific changes in white matter connectome edge density based on functionally defined nodes by Clara F. Weber, Clara F. Weber, Clara F. Weber, Evelyn M. R. Lake, Stefan P. Haider, Stefan P. Haider, Ali Mozayan, Pratheek S. Bobba, Pratik Mukherjee, Dustin Scheinost, Robert T. Constable, Laura Ment, Seyedmehdi Payabvash

“…We deployed a novel methodology using functionally defined nodes to guide white matter (WM) tractography and identify ASD-related microstructural connectome changes across the lifespan.MethodsWe used diffusion tensor imaging and clinical data from four studies in the national database for autism research (NDAR) including 155 infants, 102 toddlers, 230 adolescents, and 96 young adults – of whom 264 (45%) were diagnosed with ASD. …”
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Linking functional and structural brain organisation with behaviour in autism: a multimodal EU-AIMS Longitudinal European Autism Project (LEAP) study by Lennart M. Oblong, Alberto Llera, Ting Mei, Koen Haak, Christina Isakoglou, Dorothea L. Floris, Sarah Durston, Carolin Moessnang, Tobias Banaschewski, Simon Baron-Cohen, Eva Loth, Flavio Dell’Acqua, Tony Charman, Declan G. M. Murphy, Christine Ecker, Jan K. Buitelaar, Christian F. Beckmann, The EU-AIMS LEAP Group, Natalie J. Forde

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The Role of Intraamygdaloid Oxytocin and D2 Dopamine Receptors in Reinforcement in the Valproate-Induced Autism Rat Model by Kristóf László, Dávid Vörös, Orsolya Kiss, Bettina Réka László, Tamás Ollmann, László Péczely, Kitti Mintál, Attila Tóth, Anita Kovács, Olga Zagoracz, Erika Kertes, Veronika Kállai, Beáta Berta, Zoltán Karádi, László Lénárd

“…There is currently no effective treatment for ASD. In autism research, the valproate (VPA)-induced autism rodent model is widely accepted. …”
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Polygenic scores for empathy associate with posttraumatic stress severity in response to certain traumatic events by Frank R. Wendt, Varun Warrier, Gita A. Pathak, Karestan C. Koenen, Murray B. Stein, John H. Krystal, Robert H. Pietrzak, Joel Gelernter, Elizabeth V. Goldfarb, Simon Baron-Cohen, Renato Polimanti

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Progressive resistance training in young people with Prader-Willi syndrome: protocol for a randomised trial (PRESTO) by Kim L Bennell, Nicholas F Taylor, Nora Shields, David Levitt, Jennifer J Watts, Luke Prendergast, Joseph Proietto, Lauren J Rice, Zoë McCallum, Alesha Southby, Tania Markovic, Christine Bigby, Cara Schofield, Georgina Loughnan, Janet Franklin, Viral Chikani, Susan Blair

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Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequenci... by Ruohao Wu, Xiaojuan Li, Zhe Meng, Pinggan Li, Zhanwen He, Liyang Liang

“…Additionally, we conducted genetic analysis of ASD genes with the help of Simons Foundation for Autism Research Institute (SFARI) Gene database to identify novel possible ASD-risk genes underlying genetic NDD conditions. …”
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