Issue 1/2022
Content (59 Articles)
Behavioural and psychological features of PTEN mutations: a systematic review of the literature and meta-analysis of the prevalence of autism spectrum disorder characteristics
Katherine Cummings, Alice Watkins, Chris Jones, Renuka Dias, Alice Welham
Trajectories of imitation skills in preschoolers with autism spectrum disorders
Irène Pittet, Nada Kojovic, Martina Franchini, Marie Schaer
Feasibility of delivering parent-implemented NDBI interventions in low-resource regions: a pilot randomized controlled study
Sally J. Rogers, Aubyn Stahmer, Meagan Talbott, Gregory Young, Elizabeth Fuller, Melanie Pellecchia, Angela Barber, Elizabeth Griffith
Social communication in fragile X syndrome: pilot examination of the Brief Observation of Social Communication Change (BOSCC)
Rebecca Shaffer, Angela John Thurman, Lucienne Ronco, Diego Cadavid, Shane Raines, So Hyun Kim
Social behavior in RASopathies and idiopathic autism
Allison M. H. Foy, Rebekah L. Hudock, Ryan Shanley, Elizabeth I. Pierpont
Neural correlates of face processing associated with development of social communication in 12-month infants with familial risk of autism spectrum disorder
Joshua Glauser, Carol L. Wilkinson, Laurel J. Gabard-Durnam, Boin Choi, Helen Tager-Flusberg, Charles A. Nelson
Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation
Jessica Klusek, Amanda Fairchild, Carly Moser, Marsha R. Mailick, Angela John Thurman, Leonard Abbeduto
Down-regulation of the brain-specific cell-adhesion molecule contactin-3 in tuberous sclerosis complex during the early postnatal period
Anatoly Korotkov, Mark J. Luinenburg, Alessia Romagnolo, Till S. Zimmer, Jackelien van Scheppingen, Anika Bongaarts, Diede W. M. Broekaart, Jasper J. Anink, Caroline Mijnsbergen, Floor E. Jansen, Wim van Hecke, Wim G. Spliet, Peter C. van Rijen, Martha Feucht, Johannes A. Hainfellner, Pavel Krsek, Josef Zamecnik, Peter B. Crino, Katarzyna Kotulska, Lieven Lagae, Anna C. Jansen, David J. Kwiatkowski, Sergiusz Jozwiak, Paolo Curatolo, Angelika Mühlebner, Erwin A. van Vliet, James D. Mills, Eleonora Aronica
Parahippocampal deactivation and hyperactivation of central executive, saliency and social cognition networks in autism spectrum disorder
Susana Mouga, Isabel Catarina Duarte, Cátia Café, Daniela Sousa, Frederico Duque, Guiomar Oliveira, Miguel Castelo-Branco
A randomized, double-blind, placebo-controlled phase II trial to explore the effects of a GABAA-α5 NAM (basmisanil) on intellectual disability associated with Down syndrome
Celia Goeldner, Priya S. Kishnani, Brian G. Skotko, Julian Lirio Casero, Joerg F. Hipp, Michael Derks, Maria-Clemencia Hernandez, Omar Khwaja, Sian Lennon-Chrimes, Jana Noeldeke, Sabine Pellicer, Lisa Squassante, Jeannie Visootsak, Christoph Wandel, Paulo Fontoura, Xavier Liogier d’Ardhuy, Rafael De La Torre Fornell, Paul Glue, Julie Hoover-Fong, Sonja Uhlmann, Jorge Malagón Valdez, Andrew Marshall, Federico Martinón-Torres, Lorenzo Redondo-Collazo, Carmen Rodriguez-Tenreiro, Valeria Marquez Chin, Adriana G. Michel Reynoso, Ed A. Mitchell, Rebecca F. Slykerman, Trecia Wouldes, Sarah Loveday, Fernando Moldenhauer, Ramon Novell, Cesar Ochoa, Michael S. Rafii, Anne-Sophie Rebillat, Damien Sanlaville, Pierre Sarda, Rohit Shankar, Margaret Pulsifer, Casey L. Evans, Alexandra M. Silva, Mary Ellen McDonough, Maria Stanley, Lindsay M. McCary, Stefano Vicari, William Wilcox, Giuseppe Zampino, Alessandro Zuddas
LiCl treatment leads to long-term restoration of spine maturation and synaptogenesis in adult Tbr1 mutants
Siavash Fazel Darbandi, Andrew D. Nelson, Emily Ling-lin Pai, Kevin J. Bender, John L. R. Rubenstein
Childhood infections and autism spectrum disorders and/or intellectual disability: a register-based cohort study
Håkan Karlsson, Hugo Sjöqvist, Martin Brynge, Renee Gardner, Christina Dalman
The research landscape of tuberous sclerosis complex–associated neuropsychiatric disorders (TAND)—a comprehensive scoping review
Stephanie Vanclooster, Stacey Bissell, Agnies M. van Eeghen, Nola Chambers, Liesbeth De Waele, Anna W. Byars, Jamie K. Capal, Sebastián Cukier, Peter Davis, Jennifer Flinn, Sugnet Gardner-Lubbe, Tanjala Gipson, Tosca-Marie Heunis, Dena Hook, J. Christopher Kingswood, Darcy A. Krueger, Aubrey J. Kumm, Mustafa Sahin, Eva Schoeters, Catherine Smith, Shoba Srivastava, Megumi Takei, Robert Waltereit, Anna C. Jansen, Petrus J. de Vries
Altered subcortical and cortical brain morphology in adult women with 47,XXX: a 7-Tesla magnetic resonance imaging study
Chaira Serrarens, Maarten Otter, Bea C. M. Campforts, Constance T. R. M. Stumpel, Henk Jansma, Thérèse A. M. J. van Amelsvoort, Claudia Vingerhoets
Atypical connectivity in the cortico-striatal network in NF1 children and its relationship with procedural perceptual-motor learning and motor skills
Eloïse Baudou, Federico Nemmi, Patrice Peran, Fabien Cignetti, Melody Blais, Stéphanie Maziero, Jessica Tallet, Yves Chaix
Innovative computational approaches shed light on genetic mechanisms underlying cognitive impairment among children born extremely preterm
Weifang Liu, Quan Sun, Le Huang, Arjun Bhattacharya, Geoffery W. Wang, Xianming Tan, Karl C. K. Kuban, Robert M. Joseph, T. Michael O’Shea, Rebecca C. Fry, Yun Li, Hudson P. Santos Jr
The effect of autistic traits on response to and side-effects of pharmacological ADHD treatment in children with ADHD: results from a prospective clinical cohort
Maria M. Lilja, Emil Sandblom, Paul Lichtenstein, Eva Serlachius, Clara Hellner, Jyoti Bhagia, Linda Halldner
Patterns and predictors of adaptive skills in 2- to 7-year-old children with Down syndrome
Emily K. Schworer, Anna J. Esbensen, Vivian Nguyen, Lauren Bullard, Deborah J. Fidler, Lisa A. Daunhauer, Carolyn B. Mervis, Angela M. Becerra, Leonard Abbeduto, Angela John Thurman
Neural patterns elicited by lexical processing in adolescents with specific language impairment: support for the procedural deficit hypothesis?
Julia L. Evans, Mandy J. Maguire, Marisa L. Sizemore
mRNA expression analysis of the hippocampus in a vervet monkey model of fetal alcohol spectrum disorder
Rob F. Gillis, Roberta M. Palmour
Conducting clinical trials in persons with Down syndrome: summary from the NIH INCLUDE Down syndrome clinical trials readiness working group
Nicole T. Baumer, Mara L. Becker, George T. Capone, Kathleen Egan, Juan Fortea, Benjamin L. Handen, Elizabeth Head, James E. Hendrix, Ruth Y. Litovsky, Andre Strydom, Ignacio E. Tapia, Michael S. Rafii
Neuropsychological changes in FMR1 premutation carriers and onset of fragile X-associated tremor/ataxia syndrome
Jessica Famula, Emilio Ferrer, Randi J. Hagerman, Flora Tassone, Andrea Schneider, Susan M. Rivera, David Hessl
Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers
Cartik Kothari, Siddharth Srivastava, Youssef Kousa, Rima Izem, Marcin Gierdalski, Dongkyu Kim, Amy Good, Kira A. Dies, Gregory Geisel, Hiroki Morizono, Vittorio Gallo, Scott L. Pomeroy, Gwenn A. Garden, Lisa Guay-Woodford, Mustafa Sahin, Paul Avillach
The behavioural phenotype of SATB2-associated syndrome: a within-group and cross-syndrome analysis
Stacey Bissell, Chris Oliver, Joanna Moss, Mary Heald, Jane Waite, Hayley Crawford, Vishakha Kothari, Lauren Rumbellow, Grace Walters, Caroline Richards
Computational analysis of cortical neuronal excitotoxicity in a large animal model of neonatal brain injury
Panagiotis Kratimenos, Abhya Vij, Robinson Vidva, Ioannis Koutroulis, Maria Delivoria-Papadopoulos, Vittorio Gallo, Aaron Sathyanesan
The diagnostic journey of genetically defined neurodevelopmental disorders
Juliana Simon, Carly Hyde, Vidya Saravanapandian, Rujuta Wilson, Charlotte Distefano, Aaron Besterman, Shafali Jeste
Bringing machine learning to research on intellectual and developmental disabilities: taking inspiration from neurological diseases
Chirag Gupta, Pramod Chandrashekar, Ting Jin, Chenfeng He, Saniya Khullar, Qiang Chang, Daifeng Wang
Characterization of cell-cell communication in autistic brains with single-cell transcriptomes
Maider Astorkia, Herbert M. Lachman, Deyou Zheng
The electroretinogram b-wave amplitude: a differential physiological measure for Attention Deficit Hyperactivity Disorder and Autism Spectrum Disorder
Irene O. Lee, David H. Skuse, Paul A. Constable, Fernando Marmolejo-Ramos, Ludvig R. Olsen, Dorothy A. Thompson
Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study
Caroline B. Buchanan, Jennifer L. Stallworth, Aubin E. Joy, Rebekah E. Dixon, Alexandra E. Scott, Arthur A. Beisang, Timothy A. Benke, Daniel G. Glaze, Richard H. Haas, Peter T. Heydemann, Mary D. Jones, Jane B. Lane, David N. Lieberman, Eric D. Marsh, Jeffrey L. Neul, Sarika U. Peters, Robin C. Ryther, Steve A. Skinner, Shannon M. Standridge, Walter E. Kaufmann, Alan K. Percy
Development of a phenotype ontology for autism spectrum disorder by natural language processing on electronic health records
Mengge Zhao, James Havrilla, Jacqueline Peng, Madison Drye, Maddie Fecher, Whitney Guthrie, Birkan Tunc, Robert Schultz, Kai Wang, Yunyun Zhou
RCAN1 knockout and overexpression recapitulate an ensemble of rest-activity and circadian disruptions characteristic of Down syndrome, Alzheimer’s disease, and normative aging
Helen Wong, Jordan M. Buck, Curtis Borski, Jessica T. Pafford, Bailey N. Keller, Ryan A. Milstead, Jessica L. Hanson, Jerry A. Stitzel, Charles A. Hoeffer
Clinical and behavioural features of SYNGAP1-related intellectual disability: a parent and caregiver description
Damien Wright, Aisling Kenny, Sarah Eley, Andrew G. McKechanie, Andrew C. Stanfield
Evidence of neuroinflammation and immunotherapy responsiveness in individuals with down syndrome regression disorder
Jonathan D. Santoro, Rebecca Partridge, Runi Tanna, Dania Pagarkar, Mellad Khoshnood, Mustafa Rehmani, Ryan M. Kammeyer, Grace Y. Gombolay, Kristen Fisher, Allison Conravey, Jane El-Dahr, Alison L. Christy, Lina Patel, Melanie A. Manning, Heather Van Mater, Michael S. Rafii, Eileen A. Quinn
The importance of deep speech phenotyping for neurodevelopmental and genetic disorders: a conceptual review
Karen V. Chenausky, Helen Tager-Flusberg
An electronic health record (EHR) phenotype algorithm to identify patients with attention deficit hyperactivity disorders (ADHD) and psychiatric comorbidities
Isabella Slaby, Heather S. Hain, Debra Abrams, Frank D. Mentch, Joseph T. Glessner, Patrick M. A. Sleiman, Hakon Hakonarson
Temporal stability of parent-reported behavior problems in late talkers over 2 years: a prospective case-control study from toddlerhood to preschool age
Hsin-Hui Lu, Jeng-Dau Tsai, Feng-Ming Tsao
Calculating genetic risk for dysfunction in pleiotropic biological processes using whole exome sequencing data
Olivia J. Veatch, Diego R. Mazzotti, Robert T. Schultz, Ted Abel, Jacob J. Michaelson, Edward S. Brodkin, Birkan Tunc, Susan G. Assouline, Thomas Nickl-Jockschat, Beth A. Malow, James S. Sutcliffe, Allan I. Pack
Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications
Jennifer M. Bain, LeeAnne Green Snyder, Katherine L. Helbig, Dominique D. Cooper, Wendy K. Chung, Kimberly Goodspeed
Copy number variation at the 22q11.2 locus influences prevalence, severity, and psychiatric impact of sleep disturbance
Kathleen P. O’Hora, Amy Lin, Leila Kushan-Wells, Carrie E. Bearden
Steady-state visual evoked potentials in children with neurofibromatosis type 1: associations with behavioral rating scales and impact of psychostimulant medication
Eve Lalancette, Audrey-Rose Charlebois-Poirier, Kristian Agbogba, Inga Sophia Knoth, Emily J. H. Jones, Luke Mason, Sébastien Perreault, Sarah Lippé
Identifying and describing subtypes of spontaneous empathic facial expression production in autistic adults
Jennifer Quinde-Zlibut, Anabil Munshi, Gautam Biswas, Carissa J. Cascio
The impact of sex chromosome trisomies (XXX, XXY, XYY) on gaze towards faces and affect recognition: a cross-sectional eye tracking study
Nienke Bouw, Hanna Swaab, Nicole Tartaglia, Lisa Cordeiro, Sophie van Rijn
A framework for characterizing heterogeneity in neurodevelopmental data using latent profile analysis in a sample of children with ADHD
Anne B. Arnett, Brian P. Flaherty
Is the dolphin a fish? ERP evidence for the impact of typicality during early visual processing in ultra-rapid semantic categorization in autism spectrum disorder
Ann-Kathrin Beck, Daniela Czernochowski, Thomas Lachmann, Bernardo Barahona-Correa, Joana C. Carmo
EEG resting-state functional connectivity: evidence for an imbalance of external/internal information integration in autism
Prany Wantzen, Patrice Clochon, Franck Doidy, Fabrice Wallois, Mahdi Mahmoudzadeh, Pierre Desaunay, Mille Christian, Jean-Marc Guilé, Fabian Guénolé, Francis Eustache, Jean-Marc Baleyte, Bérengère Guillery-Girard
Auditory processing in rodent models of autism: a systematic review
Maya Wilde, Lena Constantin, Peter R. Thorne, Johanna M. Montgomery, Ethan K. Scott, Juliette E. Cheyne
Phenotypic characteristics and variability in CHARGE syndrome: a PRISMA compliant systematic review and meta-analysis
Andrea T. Thomas, Jane Waite, Caitlin A. Williams, Jeremy Kirk, Chris Oliver, Caroline Richards
Focus on your locus with a massively parallel reporter assay
Jessica C. McAfee, Jessica L. Bell, Oleh Krupa, Nana Matoba, Jason L. Stein, Hyejung Won
Default mode and fronto-parietal network associations with IQ development across childhood in autism
Joshua K. Lee, An Chuen Billy Cho, Derek S. Andrews, Sally Ozonoff, Sally J. Rogers, David G. Amaral, Marjorie Solomon, Christine Wu Nordahl
Baclofen-associated neurophysiologic target engagement across species in fragile X syndrome
Carrie R. Jonak, Ernest V. Pedapati, Lauren M. Schmitt, Samantha A. Assad, Manbir S. Sandhu, Lisa DeStefano, Lauren Ethridge, Khaleel A. Razak, John A. Sweeney, Devin K. Binder, Craig A. Erickson
Long-term follow-up of telehealth-enabled behavioral treatment for challenging behaviors in boys with fragile X syndrome
Scott S. Hall, Arlette Bujanda Rodriguez, Booil Jo, Joy S. Pollard
Divergent presentation of anxiety in high-risk groups within the intellectual disability population
Laura Groves, Joanna Moss, Chris Oliver, Rachel Royston, Jane Waite, Hayley Crawford
Correction: EEG resting-state functional connectivity: evidence for an imbalance of external/internal information integration in autism
Prany Wantzen, Patrice Clochon, Franck Doidy, Fabrice Wallois, Mahdi Mahmoudzadeh, Pierre Desaunay, Christian Mille, Jean-Marc Guilé, Fabian Guénolé, Francis Eustache, Jean-Marc Baleyte, Bérengère Guillery-Girard
A randomized, controlled trial of ZYN002 cannabidiol transdermal gel in children and adolescents with fragile X syndrome (CONNECT-FX)
Elizabeth Berry-Kravis, Randi Hagerman, Dejan Budimirovic, Craig Erickson, Helen Heussler, Nicole Tartaglia, Jonathan Cohen, Flora Tassone, Thomas Dobbins, Elizabeth Merikle, Terri Sebree, Nancy Tich, Joseph M. Palumbo, Stephen O’Quinn
The feasibility and utility of hair follicle sampling to measure FMRP and FMR1 mRNA in children with or without fragile X syndrome: a pilot study
Isha Jalnapurkar, Jean A. Frazier, Mark Roth, David M. Cochran, Ann Foley, Taylor Merk, Lauren Venuti, Lucienne Ronco, Shane Raines, Diego Cadavid
Social attention during object engagement: toward a cross-species measure of preferential social orienting
Claire Weichselbaum, Nicole Hendrix, Jordan Albright, Joseph D. Dougherty, Kelly N. Botteron, John N. Constantino, Natasha Marrus
Long-term follow-up of a randomized controlled trial of choline for neurodevelopment in fetal alcohol spectrum disorder: corpus callosum white matter microstructure and neurocognitive outcomes
Blake A. Gimbel, Mary E. Anthony, Abigail M. Ernst, Donovan J. Roediger, Erik de Water, Judith K. Eckerle, Christopher J. Boys, Joshua P. Radke, Bryon A. Mueller, Anita J. Fuglestad, Steven H. Zeisel, Michael K. Georgieff, Jeffrey R. Wozniak