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https://www.readbyqxmd.com/read/29150285/a-review-of-prevalence-studies-of-autism-spectrum-disorder-by-latitude-and-solar-irradiance-impact
#1
Somayya Syed, Kathleen A Moore, Evita March
Autism Spectrum Disorder (ASD) is a lifelong disability with no known cause or cure. Among the suggested etiologies, is Cannell's hypothesis of a deficiency in Vitamin D the main natural source of which is Solar Ultraviolet-B (UVB) radiation. The aim in this paper is to build on this hypothesis and explore the relationship of solar irradiance of which UVB is a component, by latitude with the prevalence rates of ASD. Twenty-five reports published between 2011 and 2016 using comparable diagnostic criteria were reviewed...
November 2017: Medical Hypotheses
https://www.readbyqxmd.com/read/29123465/autoimmunity-as-a-driving-force-of-cognitive-evolution
#2
Serge Nataf
In the last decades, increasingly robust experimental approaches have formally demonstrated that autoimmunity is a physiological process involved in a large range of functions including cognition. On this basis, the recently enunciated "brain superautoantigens" theory proposes that autoimmunity has been a driving force of cognitive evolution. It is notably suggested that the immune and nervous systems have somehow co-evolved and exerted a mutual selection pressure benefiting to both systems. In this two-way process, the evolutionary-determined emergence of neurons expressing specific immunogenic antigens (brain superautoantigens) has exerted a selection pressure on immune genes shaping the T-cell repertoire...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/29119520/connectivity-based-parcellation-of-the-amygdala-predicts-social-skills-in-adolescents-with-autism-spectrum-disorder
#3
Annika Rausch, Wei Zhang, Christian F Beckmann, Jan K Buitelaar, Wouter B Groen, Koen V Haak
Amygdala dysfunction plays a role in the social impairments in autism spectrum disorders (ASD), but it is unclear which of its subregions are abnormal in ASD. This study compared the volume and functional connectivity (FC) strength of three FC-defined amygdala subregions between ASD and controls, and assessed their relation to social skills in ASD. A subregion associated with the social perception network was enlarged in ASD (F1 = 7.842, p = .008) and its volume correlated significantly with symptom severity (social skills: r = ...
November 8, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29114236/patterns-of-joint-improvisation-in-adults-with-autism-spectrum-disorder
#4
Rachel-Shlomit Brezis, Lior Noy, Tali Alony, Rachel Gotlieb, Rachel Cohen, Yulia Golland, Nava Levit-Binnun
Recent research on autism spectrum disorders (ASDs) suggests that individuals with autism may have a basic deficit in synchronizing with others, and that this difficulty may lead to more complex social and communicative deficits. Here, we examined synchronization during an open-ended joint improvisation (JI) paradigm, called the mirror game (MG). In the MG, two players take turns leading, following, and jointly improvising motion using two handles set on parallel tracks, while their motion tracks are recorded with high temporal and spatial resolution...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/29112191/identifying-specific-prefrontal-neurons-that-contribute-to-autism-associated-abnormalities-in-physiology-and-social-behavior
#5
A C Brumback, I T Ellwood, C Kjaerby, J Iafrati, S Robinson, A T Lee, T Patel, S Nagaraj, F Davatolhagh, V S Sohal
Functional imaging and gene expression studies both implicate the medial prefrontal cortex (mPFC), particularly deep-layer projection neurons, as a potential locus for autism pathology. Here, we explored how specific deep-layer prefrontal neurons contribute to abnormal physiology and behavior in mouse models of autism. First, we find that across three etiologically distinct models-in utero valproic acid (VPA) exposure, CNTNAP2 knockout and FMR1 knockout-layer 5 subcortically projecting (SC) neurons consistently exhibit reduced input resistance and action potential firing...
November 7, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/29100626/heritable-variation-with-little-or-no-maternal-effect-accounts-for-recurrence-risk-to-autism-spectrum-disorder-in-sweden
#6
Benjamin Hon Kei Yip, Dan Bai, Behrang Mahjani, Lambertus Klei, Yudi Pawitan, Christina M Hultman, Dorothy E Grice, Kathryn Roeder, Joseph D Buxbaum, Bernie Devlin, Abraham Reichenberg, Sven Sandin
BACKGROUND: Autism spectrum disorder (ASD) has both genetic and environmental origins, including potentially maternal effects. Maternal effects describe association of one or more maternal phenotypes with liability to ASD in progeny that are independent of maternally transmitted risk alleles. While maternal effects could play an important role, consistent with association to maternal traits such as immune status, no study has estimated maternal, additive genetic, and environmental effects in ASD...
September 21, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/29090595/increasing-object-substitution-symbolic-play-in-young-children-with-autism-spectrum-disorders
#7
Gabrielle T Lee, Hua Feng, Sheng Xu, Shao-Ju Jin
Children with autism spectrum disorders (ASD) may not develop symbolic play skills, so such skills need to be taught specifically. We report an experiment regarding a procedure targeting "object-substitution" symbolic play skills. The "object-substitution" symbolic play behavior occurred when the child labeled a common object with the name of a substitute and used the object to perform a play action (e.g., As she put a bowl on her head, she called it a hat). A multiple probe across behaviors design was employed with five children (four boys and one girl, aged 3 to 6 years) with ASD...
October 1, 2017: Behavior Modification
https://www.readbyqxmd.com/read/29090079/prospective-investigation-of-foxp1-syndrome
#8
Paige M Siper, Silvia De Rubeis, Maria Del Pilar Trelles, Allison Durkin, Daniele Di Marino, François Muratet, Yitzchak Frank, Reymundo Lozano, Evan E Eichler, Morgan Kelly, Jennifer Beighley, Jennifer Gerdts, Arianne S Wallace, Heather C Mefford, Raphael A Bernier, Alexander Kolevzon, Joseph D Buxbaum
BACKGROUND: Haploinsufficiency of the forkhead-box protein P1 (FOXP1) gene leads to a neurodevelopmental disorder termed FOXP1 syndrome. Previous studies in individuals carrying FOXP1 mutations and deletions have described the presence of autism spectrum disorder (ASD) traits, intellectual disability, language impairment, and psychiatric features. The goal of the present study was to comprehensively characterize the genetic and clinical spectrum of FOXP1 syndrome. This is the first study to prospectively examine the genotype-phenotype relationship in multiple individuals with FOXP1 syndrome, using a battery of standardized clinical assessments...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29084191/therapy-of-a-couple-with-a-bipolar-spouse
#9
Andrzej Witusik, Tadeusz Pietras
Qualitative analysis of therapy of a couple with a partner who has bipolar disorder is an important research paradigm in contemporary psychotherapy of mental disorders.The qualitative method of the study is important both from the cognitive point of view and for the evaluation of the therapeutic efficacy in the individual, idiographical aspect. AIM: The aim of the study is a qualitative analysis of the therapeutic process of a couple in which one partner suffers from bipolar affective disorder...
October 23, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29070492/vitamin-d-deficiency-infertility-and-neurodevelopmental-diseases-attention-deficit-hyperactivity-disorder-autism-and-schizophrenia
#10
Michael J Berridge
The process of development depends on a progressive sequence of events that are carefully orchestrated by a number of signalling systems. Alteration in these signalling events results in infertility and neurodevelopmental diseases such as attention deficit hyperactivity disorder (ADHD), autism spectrum disorders (ASD) and schizophrenia. A prominent role throughout development beginning at fertilization and continuing through early development, implantation and organ differentiation such as heart and brain development is regulated by Ca(2+) signalling...
October 25, 2017: American Journal of Physiology. Cell Physiology
https://www.readbyqxmd.com/read/29066944/a-polymer-physics-investigation-of-the-architecture-of-the-murine-orthologue-of-the-7q11-23-human-locus
#11
REVIEW
Andrea M Chiariello, Andrea Esposito, Carlo Annunziatella, Simona Bianco, Luca Fiorillo, Antonella Prisco, Mario Nicodemi
In the last decade, the developments of novel technologies, such as Hi-C or GAM methods, allowed to discover that chromosomes in the nucleus of mammalian cells have a complex spatial organization, encompassing the functional contacts between genes and regulators. In this work, we review recent progresses in chromosome modeling based on polymer physics to understand chromatin structure and folding mechanisms. As an example, we derive in mouse embryonic stem cells the full 3D structure of the Bmp7 locus, a genomic region that plays a key role in osteoblastic differentiation...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/29057625/%C3%AE-2-glycine-receptors-modulate-adult-hippocampal-neurogenesis-and-spatial-memory
#12
Min-Shan Lin, Wen-Chao Xiong, Shu-Ji Li, Zhi Gong, Xiong Cao, Xiao-Jing Kuang, Yuan Zhang, Tian-Ming Gao, Naguib Mechawar, Ce Liu, Xin-Hong Zhu
The α2-glycine receptors (GlyRs) play important roles during early central nervous system development. However, these receptors' possible involvement in neurodevelopmental events occurring in the adult brain remains to be explored. Adult hippocampal neurogenesis (AHN) is the process by which new granule cell neurons are added to the dentate gyrus (DG) throughout adulthood. In this study, we observed that hippocampal adult neural stem cells (ANSCs) express α2-containing GlyRs. Pharmacological inhibition of GlyRs by strychnine or picrotoxin decreased the proliferation of ANSCs, both in vivo and in vitro...
December 2017: Developmental Neurobiology
https://www.readbyqxmd.com/read/29045040/neurexin-gene-family-variants-as-risk-factors-for-autism-spectrum-disorder
#13
Jia Wang, Jianhua Gong, Li Li, Yanlin Chen, Lingfei Liu, HuaiTing Gu, Xiu Luo, Fang Hou, Jiajia Zhang, Ranran Song
Increasing evidence suggests that abnormal synaptic function leads to neuronal developmental disorders and is an important component of the etiology of autism spectrum disorder (ASD). Neurexins are presynaptic cell-adhesion molecules that affect the function of synapses and mediate the conduction of nerve signals. Thus, neurexins are attractive candidate genes for autism. Since gene families have greater power to reveal genetic association than single genes, we designed this case-control study to investigate six genetic variants in three neurexin genes (NRXN1, NRXN2, and NRXN3) in a Chinese population including 529 ASD patients and 1,923 healthy controls...
October 16, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29042592/impaired-detection-of-happy-facial-expressions-in-autism
#14
Wataru Sato, Reiko Sawada, Shota Uono, Sayaka Yoshimura, Takanori Kochiyama, Yasutaka Kubota, Morimitsu Sakihama, Motomi Toichi
The detection of emotional facial expressions plays an indispensable role in social interaction. Psychological studies have shown that typically developing (TD) individuals more rapidly detect emotional expressions than neutral expressions. However, it remains unclear whether individuals with autistic phenotypes, such as autism spectrum disorder (ASD) and high levels of autistic traits (ATs), are impaired in this ability. We examined this by comparing TD and ASD individuals in Experiment 1 and individuals with low and high ATs in Experiment 2 using the visual search paradigm...
October 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29042182/are-endocrine-disrupting-compounds-environmental-risk-factors-for-autism-spectrum-disorder
#15
REVIEW
Amer Moosa, Henry Shu, Tewarit Sarachana, Valerie W Hu
Recent research on the etiology of autism spectrum disorder (ASD) has shifted in part from a singular focus on genetic causes to the involvement of environmental factors and their gene interactions. This shift in focus is a result of the rapidly increasing prevalence of ASD coupled with the incomplete penetrance of this disorder in monozygotic twins. One such area of environmentally focused research is the association of exposures to endocrine disrupting compounds (EDCs) with elevated risk for ASD. EDCs are exogenous chemicals that can alter endogenous hormone activity and homeostasis, thus potentially disrupting the action of sex and other natural hormones at all stages of human development...
October 23, 2017: Hormones and Behavior
https://www.readbyqxmd.com/read/29040524/potentiation-of-excitatory-synaptic-transmission-ameliorates-aggression-in-mice-with-stxbp1-haploinsufficiency
#16
Hiroyuki Miyamoto, Atsushi Shimohata, Manabu Abe, Teruo Abe, Emi Mazaki, Kenji Amano, Toshimitsu Suzuki, Tetsuya Tatsukawa, Shigeyoshi Itohara, Kenji Sakimura, Kazuhiro Yamakawa
Genetic studies point to a major role of de novo mutations in neurodevelopmental disorders of intellectual disability, autism spectrum disorders, and epileptic encephalopathy. The STXBP1 gene encodes the syntaxin-binding protein 1 (Munc18-1) that critically controls synaptic vesicle exocytosis and synaptic transmission. This gene harbors a high frequency of de novo mutations, which may play roles in these neurodevelopmental disorders. However, the system and behavioral-level pathophysiological changes caused by these genetic defects remain poorly understood...
October 11, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29035974/altered-ultrasonic-vocalization-in-neonatal-sapap3-deficient-mice
#17
Natalya S Tesdahl, Danielle K King, Latisha N McDaniel, Andrew A Pieper
Ultrasonic vocalizations (USVs) in neonatal mice provide a means of modeling communication deficits in neurodevelopmental disorders. Mature mice deficient in SAP90/PSD95-associated protein 3 (SAPAP3) display compulsive grooming and anxiety-like behavior, conditions that are often associated with neurodevelopmental disorders. To date, however, aspects of neurodevelopment have not been investigated in SAPAP3-deficient mice. Here, we examined whether neonatal SAPAP3-deficient mice display altered USVs. We recorded USVs from 5-day-old sapap3 and sapap3 mice, and also monitored developmental reflexes in these mice during the early postnatal period...
December 6, 2017: Neuroreport
https://www.readbyqxmd.com/read/29034499/early-interaction-in-autism-spectrum-disorder-mothers-and-children-s-behaviours-during-joint-engagement
#18
A Kaale, L Smith, A Nordahl-Hansen, M W Fargerland, C Kasari
BACKGROUND: More knowledge about the interaction between young children with autism spectrum disorder and their parents is one way to improve intervention. This study aims to investigate the behaviours of mothers and children with autism spectrum disorder during joint engagement, with a focus on pacing or rate (i.e., incidences per minute) of their behaviours when being in this state. METHOD: Video recordings of 10 min of free-play between 58 children (2-4 years) diagnosed with childhood autism and their mothers were used to examine rate of mothers' and children's behaviours (i...
October 15, 2017: Child: Care, Health and Development
https://www.readbyqxmd.com/read/29028156/genetic-background-effects-in-neuroligin-3-mutant-mice-minimal-behavioral-abnormalities-on-c57-background
#19
Thomas C Jaramillo, Christine Ochoa Escamilla, Shunan Liu, Lauren Peca, Shari G Birnbaum, Craig M Powell
Neuroligin-3 (NLGN3) is a postsynaptic cell adhesion protein that interacts with presynaptic ligands including neurexin-1 (NRXN1) [Ichtchenko et al., Journal of Biological Chemistry, 271, 2676-2682, 1996]. Mice harboring a mutation in the NLGN3 gene (NL3R451C) mimicking a mutation found in two brothers with autism spectrum disorder (ASD) were previously generated and behaviorally phenotyped for autism-related behaviors. In these NL3R451C mice generated and tested on a hybrid C57BL6J/129S2/SvPasCrl background, we observed enhanced spatial memory and reduced social interaction [Tabuchi et al...
October 13, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29026509/development-and-evaluation-of-a-speech-generating-aac-mobile-app-for-minimally-verbal-children-with-autism-spectrum-disorder-in-mainland-china
#20
Sainan An, Xiaoping Feng, Yue Dai, Hongli Bo, Xiuqing Wang, Mu Li, John Zhuohao Woo, Xingmei Liang, Cheng Guo, Charles Xingchao Liu, Liping Wei
BACKGROUND: Mobile touchscreen devices are currently being used as speech-generating devices (SGDs) and have been shown to promote the communication skills, particularly the requesting skills of children with autism spectrum disorders (ASD) who have limited spoken language. However, no augmentative and alternative communication (AAC) mobile app has been developed and evaluated in the Chinese language in Mainland China. METHODS: We developed an AAC mobile app, which is the first in Mainland China, to our knowledge, named Yuudee (Chinese name (xiaoyudi))...
2017: Molecular Autism
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