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https://www.readbyqxmd.com/read/28649313/the-eu-aims-longitudinal-european-autism-project-leap-clinical-characterisation
#1
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/28647593/features-of-emotional-and-social-behavioral-phenotypes-of-calsyntenin2-knockout-mice
#2
S V Ranneva, K S Pavlov, A V Gromova, T G Amstislavskaya, T V Lipina
Calsyntenin-2 (Clstn2) is the synaptic protein that belongs to the super family of cadherins, playing an important role in learning and memory. We recently reported that Clstn2 knockout mice (Clstn2-KO) have a deficit of GABAergic interneurons coupled with hyperactivity and deficient spatial memory. Given, that impaired functioning of GABA receptors is linked to several psychopathologies, including anxiety and autism, we sought to further characterize Clstn2-KO mice with respect to emotional and social behavior...
June 21, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28647010/social-skills-training-for-children-and-adolescents-with-autism-spectrum-disorder-a-randomized-controlled-trial
#3
Nora Choque Olsson, Oskar Flygare, Christina Coco, Anders Görling, Anna Råde, Qi Chen, Katarina Lindstedt, Steve Berggren, Eva Serlachius, Ulf Jonsson, Kristiina Tammimies, Lars Kjellin, Sven Bölte
OBJECTIVE: Social skills group training (SSGT) for children and adolescents with autism spectrum disorder (ASD) is widely applied, but effectiveness in real-world practice has not yet been properly evaluated. This study sought to bridge this gap. METHOD: This 12-week pragmatic randomized controlled trial of SSGT compared to standard care alone was conducted at 13 child and adolescent psychiatry outpatient units in Sweden. Twelve sessions of manualized SSGT ("KONTAKT") were delivered by regular clinical staff...
July 2017: Journal of the American Academy of Child and Adolescent Psychiatry
https://www.readbyqxmd.com/read/28638324/stochastic-signatures-of-involuntary-head-micro-movements-can-be-used-to-classify-females-of-abide-into-different-subtypes-of-neurodevelopmental-disorders
#4
Elizabeth B Torres, Sejal Mistry, Carla Caballero, Caroline P Whyatt
Background: The approximate 5:1 male to female ratio in clinical detection of Autism Spectrum Disorder (ASD) prevents research from characterizing the female phenotype. Current open access repositories [such as those in the Autism Brain Imaging Data Exchange (ABIDE I-II)] contain large numbers of females to help begin providing a new characterization of females on the autistic spectrum. Here we introduce new methods to integrate data in a scale-free manner from continuous biophysical rhythms of the nervous systems and discrete (ordinal) observational scores...
2017: Frontiers in Integrative Neuroscience
https://www.readbyqxmd.com/read/28620892/a-prospective-study-of-the-concordance-of-dsm-iv-and-dsm-5-diagnostic-criteria-for-autism-spectrum-disorder
#5
Micah O Mazurek, Frances Lu, Heather Symecko, Eric Butter, Nicole M Bing, Rachel J Hundley, Marie Poulsen, Stephen M Kanne, Eric A Macklin, Benjamin L Handen
The transition from DSM-IV to DSM-5 criteria for autism spectrum disorder (ASD) sparked considerable concern about the potential implications of these changes. This study was designed to address limitations of prior studies by prospectively examining the concordance of DSM-IV and final DSM-5 criteria on a consecutive sample of 439 children referred for autism diagnostic evaluations. Concordance and discordance were assessed using a consistent diagnostic battery. DSM-5 criteria demonstrated excellent overall specificity and good sensitivity relative to DSM-IV criteria...
June 16, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28620294/gestational-exposure-to-air-pollution-alters-cortical-volume-microglial-morphology-and-microglia-neuron-interactions-in-a-sex-specific-manner
#6
Jessica L Bolton, Steven Marinero, Tania Hassanzadeh, Divya Natesan, Dominic Le, Christine Belliveau, S N Mason, Richard L Auten, Staci D Bilbo
Microglia are the resident immune cells of the brain, important for normal neural development in addition to host defense in response to inflammatory stimuli. Air pollution is one of the most pervasive and harmful environmental toxicants in the modern world, and several large scale epidemiological studies have recently linked prenatal air pollution exposure with an increased risk of neurodevelopmental disorders such as autism spectrum disorder (ASD). Diesel exhaust particles (DEP) are a primary toxic component of air pollution, and markedly activate microglia in vitro and in vivo in adult rodents...
2017: Frontiers in Synaptic Neuroscience
https://www.readbyqxmd.com/read/28618077/generation-of-a-microglial-developmental-index-in-mice-and-in-humans-reveals-a-sex-difference-in-maturation-and-immune-reactivity
#7
Richa Hanamsagar, Mark D Alter, Carina S Block, Haley Sullivan, Jessica L Bolton, Staci D Bilbo
Evidence suggests many neurological disorders emerge when normal neurodevelopmental trajectories are disrupted, i.e., when circuits or cells do not reach their fully mature state. Microglia play a critical role in normal neurodevelopment and are hypothesized to contribute to brain disease. We used whole transcriptome profiling with Next Generation sequencing of purified developing microglia to identify a microglial developmental gene expression program involving thousands of genes whose expression levels change monotonically (up or down) across development...
June 15, 2017: Glia
https://www.readbyqxmd.com/read/28612411/deficits-in-temporal-processing-in-mice-prenatally-exposed-to-valproic-acid
#8
Julieta Acosta, Marcos A Campolongo, Christian Höcht, Amaicha M Depino, Diego A Golombek, Patricia V Agostino
Temporal processing in the seconds-to-minutes range, known as interval timing, is a crucial cognitive function that requires activation of cortico-striatal circuits via dopaminergic-glutamatergic pathways. In humans, both children and adults with autism spectrum disorders (ASD) present alterations in their estimation of time intervals. At present, there are no records of interval timing studies in animal models of ASD. Hence, the objective of the present work was to evaluate interval timing in a mouse model of prenatal exposure to valproic acid (VPA) - a treatment used to induce human-like autistic features in rodent models...
June 14, 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/28609577/cerebrolysin-prevents-deficits-in-social-behavior-repetitive-conduct-and-synaptic-inhibition-in-a-rat-model-of-autism
#9
Roberto Cuevas-Olguin, Swagata Roychowdhury, Anwesha Banerjee, Francisco Garcia-Oscos, Eric Esquivel-Rendon, María Elena Bringas, Michael P Kilgard, Gonzalo Flores, Marco Atzori
Autism spectrum disorder (ASD) is a syndrome of diverse neuropsychiatric diseases of growing incidence characterized by repetitive conduct and impaired social behavior and communication for which effective pharmacological treatment is still unavailable. While the mechanisms and etiology of ASD are still unknown, a consensus is emerging about the synaptic nature of the syndrome, suggesting a possible avenue for pharmacological treatment with synaptogenic compounds. The peptidic mixture cerebrolysin (CBL) has been successfully used during the last three decades in the treatment of stroke and neurodegenerative disease...
June 13, 2017: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/28608397/reward-learning-modulates-the-attentional-processing-of-faces-in-children-with-and-without-autism-spectrum-disorder
#10
Tianbi Li, Xueqin Wang, Junhao Pan, Shuyuan Feng, Mengyuan Gong, Yaxue Wu, Guoxiang Li, Sheng Li, Li Yi
The processing of social stimuli, such as human faces, is impaired in individuals with autism spectrum disorder (ASD), which could be accounted for by their lack of social motivation. The current study examined how the attentional processing of faces in children with ASD could be modulated by the learning of face-reward associations. Sixteen high-functioning children with ASD and 20 age- and ability-matched typically developing peers participated in the experiments. All children started with a reward learning task, in which the children were presented with three female faces that were attributed with positive, negative, and neutral values, and were required to remember the faces and their associated values...
June 12, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28608249/retinoic-acid-related-orphan-receptor-alpha-rora-variants-are-associated-with-autism-spectrum-disorder
#11
Arezou Sayad, Rezvan Noroozi, Mir Davood Omrani, Mohammad Taheri, Soudeh Ghafouri-Fard
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with various epidemiologic, genetic, epigenetic, and environmental factors being associated with it. The observed sex bias in ASD towards male has prompted investigators to propose sex-dependent mechanisms for ASD. Retinoic acid-related orphan receptor-alpha (RORA) is a new autism candidate gene that has been shown to be differentially regulated by male and female hormones. Previous studies have shown deregulation of its expression in the prefrontal cortex and the cerebellum of ASD patients...
June 12, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28607167/the-role-of-creb-srf-and-mef2-in-activity-dependent-neuronal-plasticity-in-the-visual-cortex
#12
Nisha S Pulimood, Rodrigues Wandilson Dos Santos, Devon A Atkinson, Sandra M Mooney, Alexandre E Medina
The transcription factors CREB (cAMP Response Element Binding factor), SRF (Serum Response Factor) and MEF2 (Myocyte Enhancer Factor 2) play critical roles in the mechanisms underlying neuronal plasticity. However, the role of the activation of these transcription factors in the different components of plasticity in vivo is not well known. In this study, we tested the role of CREB, SRF and MEF2 in ocular dominance plasticity (ODP), a paradigm of activity-dependent neuronal plasticity in the visual cortex. These three proteins bind to the Synaptic Activity Response Element (SARE), an enhancer sequence found upstream of many plasticity-related genes (Kawashima et al...
June 12, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28605393/drosophila-courtship-conditioning-as-a-measure-of-learning-and-memory
#13
Tom S Koemans, Cornelia Oppitz, Rogier A T Donders, Hans van Bokhoven, Annette Schenck, Krystyna Keleman, Jamie M Kramer
Many insights into the molecular mechanisms underlying learning and memory have been elucidated through the use of simple behavioral assays in model organisms such as the fruit fly, Drosophila melanogaster. Drosophila is useful for understanding the basic neurobiology underlying cognitive deficits resulting from mutations in genes associated with human cognitive disorders, such as intellectual disability (ID) and autism. This work describes a methodology for testing learning and memory using a classic paradigm in Drosophila known as courtship conditioning...
June 5, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28588858/a-chromosomal-microdeletion-of-15q-in-a-female-patient-with-epilepsy-id-and-autism-spectrum-disorder-a-case-report
#14
Dina F Ahram, Yasser Al-Sarraj, Rowaida Z Taha, Saba F Elhag, Fouad A Al-Shaban, Hatem El-Shanti, Marios Kambouris
15q deletions have been described in association with intellectual disability and autism spectrum disorder (ASD). Previous reports have supported the role of 15q24 low copy repeats (LCRs) in mediating alternatively sized genomic rearrangements. Based on our reported finding of a 15q24 deletion coinciding with two LCR regions in a patient with epilepsy and ASD, we recommend that patients with 15q24 deletions be evaluated for ASD for early institution of therapy.
June 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28588452/structure-function-analysis-of-the-glyr-%C3%AE-2-subunit-autism-mutation-p-r323l-reveals-a-gain-of-function
#15
Yan Zhang, Thi Nhu Thao Ho, Robert J Harvey, Joseph W Lynch, Angelo Keramidas
Glycine receptors (GlyRs) containing the α2 subunit regulate cortical interneuron migration. Disruption of the GlyR α2 subunit gene (Glra2) in mice leads to disrupted dorsal cortical progenitor homeostasis, leading to a depletion of projection neurons and moderate microcephaly in newborn mice. In humans, rare variants in GLRA2, which is located on the X chromosome, are associated with autism spectrum disorder (ASD) in the hemizygous state in males. These include a microdeletion (GLRA2∆ex8-9) and missense mutations in GLRA2 (p...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28586511/factors-affecting-dance-exercise-performance-among-students-at-a-special-needs-school
#16
Yukiko Ito, Izumi Hiramoto, Hideya Kodama
BACKGROUND: In Japan, dance exercise has been introduced as a compulsory element of health and physical education. However, there is a considerable discrepancy in the levels of performance among students with intellectual disabilities (ID) at a special needs school. AIM: To demonstrate factors affecting the performance of dance exercise in students with ID. METHODS: A 4-month dance exercise program was implemented for junior high school students at a special needs school, and performance of 32 students at 22 sessions was assessed quantitatively by amount of calorie use by exercise and the proficiency scores of performances...
June 6, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28580294/gender-differences-in-the-structural-connectome-of-the-teenage-brain-revealed-by-generalized-q-sampling-mri
#17
Yeu-Sheng Tyan, Jan-Ray Liao, Chao-Yu Shen, Yu-Chieh Lin, Jun-Cheng Weng
The question of whether there are biological differences between male and female brains is a fraught one, and political positions and prior expectations seem to have a strong influence on the interpretation of scientific data in this field. This question is relevant to issues of gender differences in the prevalence of psychiatric conditions, including autism, attention deficit hyperactivity disorder (ADHD), Tourette's syndrome, schizophrenia, dyslexia, depression, and eating disorders. Understanding how gender influences vulnerability to these conditions is significant...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28572606/automated-screening-for-fragile-x-premutation-carriers-based-on-linguistic-and-cognitive-computational-phenotypes
#18
Arezoo Movaghar, Marsha Mailick, Audra Sterling, Jan Greenberg, Krishanu Saha
Millions of people globally are at high risk for neurodegenerative disorders, infertility or having children with a disability as a result of the Fragile X (FX) premutation, a genetic abnormality in FMR1 that is underdiagnosed. Despite the high prevalence of the FX premutation and its effect on public health and family planning, most FX premutation carriers are unaware of their condition. Since genetic testing for the premutation is resource intensive, it is not practical to screen individuals for FX premutation status using genetic testing...
June 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28568910/sex-differences-in-parent-reported-executive-functioning-and-adaptive-behavior-in-children-and-young-adults-with-autism-spectrum-disorder
#19
Emily I White, Gregory L Wallace, Julia Bascom, Anna C Armour, Kelly Register-Brown, Haroon S Popal, Allison B Ratto, Alex Martin, Lauren Kenworthy
This study is the largest to date examining executive function and adaptive skills in females with autism spectrum disorder (ASD). Its primary aim was to utilize parent ratings of real-world executive functioning and adaptive behavior to better understand whether females with ASD differ from males with ASD in these areas of everyday functioning. We compared 79 females with ASD to 158 males with ASD (ages 7-18) who were statistically matched on age, IQ, and level of ADHD or ASD traits. All participants were assessed using the Behavior Rating Inventory of Executive Function (BRIEF) and a subset (56 females and 130 males) also received the Vineland Adaptive Behavior Scales (VABS)...
June 1, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28552599/spectral-and-temporal-properties-of-calls-reveal-deficits-in-ultrasonic-vocalizations-of-adult-fmr1-knockout-mice
#20
Samantha L Hodges, Suzanne O Nolan, Conner D Reynolds, Joaquin N Lugo
The Fmr1 knockout (KO) mouse has commonly been used to investigate communication impairments, one of the key diagnostic symptoms observed in Fragile X syndrome (FXS) and Autism spectrum disorder (ASD). Many studies have found alterations in ultrasonic vocalizations (USVs) in neonatal Fmr1 KO mice, however, there is limited research investigating whether these deficits continue into adulthood. In the present study, we examine differences in female urine-induced ultrasonic vocalizations, scent marking behavior, odor discrimination, and open field activity in adult male Fmr1 KO and wildtype (WT) mice...
May 26, 2017: Behavioural Brain Research
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