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https://www.readbyqxmd.com/read/28821725/interplay-between-maternal-slc6a4-mutation-and-prenatal-stress-a-possible-mechanism-for-autistic-behavior-development
#1
Calvin P Sjaarda, Patrick Hecht, Amy J M McNaughton, Audrina Zhou, Melissa L Hudson, Matt J Will, Garth Smith, Muhammad Ayub, Ping Liang, Nansheng Chen, David Beversdorf, Xudong Liu
The low activity allele of the maternal polymorphism, 5HTTLPR, in the serotonin transporter, SLC6A4, coupled with prenatal stress is reported to increase the risk for children to develop autism spectrum disorder (ASD). Similarly, maternal Slc6a4 knock-out and prenatal stress in rodents results in offspring demonstrating ASD-like characteristics. The present study uses an integrative genomics approach to explore mechanistic changes in early brain development in mouse embryos exposed to this maternal gene-environment phenomenon...
August 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28821679/upf1-governs-synaptic-plasticity-through-association-with-a-stau2-rna-granule
#2
Tyson E Graber, Erika Freemantle, Mina Anadolu, Sarah Hébert-Seropian, Robyn MacAdam, Unkyung Shin, Huy-Dung Hoang, Tommy Alain, Jean-Claude Lacaille, Wayne S Sossin
Neuronal mRNAs can be packaged in reversibly stalled polysome granules prior to their transport to distant synaptic locales. Stimulation of synaptic metabotropic glutamate receptors (mGluRs) reactivates translation of these particular mRNAs to produce plasticity-related protein; a phenomenon exhibited during mGluR-mediated long-term depression (mGluR-LTD). This form of plasticity is deregulated in Fragile X Syndrome, a monogenic form of autism in humans, and understanding the stalling and reactivation mechanism could reveal new approaches to therapies...
August 18, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28816000/investigating-facial-phenotype-in-autism-spectrum-conditions-the-importance-of-a-hypothesis-driven-approach
#3
Maryam Boutrus, Murray T Maybery, Gail A Alvares, Diana Weiting Tan, Kandice J Varcin, Andrew J O Whitehouse
Atypical facial characteristics have been observed in many disorders associated with developmental disability. While autism spectrum conditions (ASC) have not previously been thought to be associated with a distinct facial phenotype, an emerging research literature is casting doubt on this assumption. The identification of differences in the facial phenotype of individuals with ASC may contribute to efforts to promote early identification of the condition and help elucidate etiological pathways. With the aim of identifying facial phenotypes associated with ASC, this commentary evaluated facial features purported to distinguish ASC from typical development...
August 17, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28815619/sluggish-cognitive-tempo-in-children-and-adolescents-with-higher-functioning-autism-spectrum-disorders-social-impairments-and-internalizing-symptoms
#4
Outi Reinvall, Teija Kujala, Arja Voutilainen, Anu-Liisa Moisio, Pekka Lahti-Nuuttila, Marja Laasonen
Sluggish cognitive tempo (SCT) was introduced in 1980s in the field of attention deficit hyperactivity disorder (ADHD). Studies indicate that symptoms of SCT are separate from symptoms of ADHD and independently associated with multiple domains of functioning in clinical groups and in typical development. We assessed whether similar pattern would apply to higher functioning autism spectrum disorders (ASD). Children with higher functioning ASD (N = 55; 5-15 years) were divided into the ASD+High SCT (n = 17), the ASD+Medium SCT (n = 18) and the ASD+Low SCT (n = 20) groups based on parent-rated daydreaming and slowness on the Five to Fifteen questionnaire (FTF)...
August 16, 2017: Scandinavian Journal of Psychology
https://www.readbyqxmd.com/read/28814540/autism-spectrum-disorder-in-fragile-x-syndrome-cooccurring-conditions-and-current-treatment
#5
Walter E Kaufmann, Sharon A Kidd, Howard F Andrews, Dejan B Budimirovic, Amy Esler, Barbara Haas-Givler, Tracy Stackhouse, Catharine Riley, Georgina Peacock, Stephanie L Sherman, W Ted Brown, Elizabeth Berry-Kravis
BACKGROUND AND OBJECTIVE: Individuals with fragile X syndrome (FXS) are frequently codiagnosed with autism spectrum disorder (ASD). Most of our current knowledge about ASD in FXS comes from family surveys and small studies. The objective of this study was to examine the impact of the ASD diagnosis in a large clinic-based FXS population to better inform the care of people with FXS. METHODS: The study employed a data set populated by data from individuals with FXS seen at specialty clinics across the country...
June 2017: Pediatrics
https://www.readbyqxmd.com/read/28811938/neuropsychological-characteristics-of-children-with-mixed-autism-and-adhd
#6
Costanza Colombi, Mohammad Ghaziuddin
Clinical heterogeneity is a well-established characteristic of autism spectrum disorder (ASD). While the comorbidity of ASD and ADHD is well known in clinical practice, relatively little research has examined the neuropsychological profile of children with ASD + ADHD. Our study showed significant differences in the neuropsychological characteristics of children with ASD + ADHD compared to those with ASD only. Children with ASD + ADHD showed higher symptoms of anxiety, worse working memory, and less empathy, as measured by the "Reading the Mind in the Eyes...
2017: Autism Research and Treatment
https://www.readbyqxmd.com/read/28809922/increased-signaling-by-the-autism-related-engrailed-2-protein-enhances-dendritic-branching-and-spine-density-alters-synaptic-structural-matching-and-exaggerates-protein-synthesis
#7
Asma Soltani, Solène Lebrun, Gilles Carpentier, Giulia Zunino, Sandrine Chantepie, Auriane Maïza, Yuri Bozzi, Claire Desnos, François Darchen, Olivier Stettler
Engrailed 1 (En1) and 2 (En2) code for closely related homeoproteins acting as transcription factors and as signaling molecules that contribute to midbrain and hindbrain patterning, to development and maintenance of monoaminergic pathways, and to retinotectal wiring. En2 has been suggested to be an autism susceptibility gene and individuals with autism display an overexpression of this homeogene but the mechanisms remain unclear. We addressed in the present study the effect of exogenously added En2 on the morphology of hippocampal cells that normally express only low levels of Engrailed proteins...
2017: PloS One
https://www.readbyqxmd.com/read/28808839/individuals-with-autism-have-higher-8-iso-pgf2%C3%AE-levels-than-controls-but-no-correlation-with-quantitative-assay-of-paraoxonase-1-serum-levels
#8
Bianca Pop, Alexandru-Ștefan Niculae, Tudor Lucian Pop, Andreea Liana Răchișan
Autism spectrum disorder (ASD) represents a very large set of neurodevelopmental issues with diverse clinical outcomes. Various hypotheses have been put forth for the etiology of autism spectrum disorder, including issues pertaining to oxidative stress. In this study, we conducted measurements of serum 8-Iso-Prostaglanding F2 α (8-iso-PGF2α, which is the results of non-enzimatically mediated polyunsaturated fatty acid oxidation) in a population of individuals with autism and a control group of age and sex matched controls...
August 14, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28808521/replicative-genetic-association-study-between-functional-polymorphisms-in-avpr1a-and-social-behavior-scales-of-autism-spectrum-disorder-in-the-korean-population
#9
So Young Yang, Soon Ae Kim, Gang Min Hur, Mira Park, Jong-Eun Park, Hee Jeong Yoo
BACKGROUND: Arginine vasopressin has been shown to affect social and emotional behaviors, which is mediated by the arginine vasopressin receptor (AVPR1A). Genetic polymorphisms in the AVPR1A promoter region have been identified to be associated with susceptibility to social deficits in autism spectrum disorder (ASD). We hypothesize that alleles of polymorphisms in the promoter region of AVPR1A may differentially interact with certain transcriptional factors, which in turn affect quantitative traits, such as sociality, in children with autism...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28807762/diagnostic-exome-sequencing-identifies-a-heterozygous-mbd5-frameshift-mutation-in-a-family-with-intellectual-disability-and-epilepsy
#10
Ji Yoon Han, In Goo Lee, Woori Jang, Myungshin Kim, Yonggoo Kim, Ja Hyun Jang, Joonhong Park
Methyl-CpG-binding domain 5 (MBD5)-associated neurodevelopmental disorder caused by 2q23.1 or MBD5-specific mutation has been recently identified as a genetic disorder associated with autism spectrum disorders. Phenotypic features of 2q23.1 deletion or disruption of MBD5 gene include severe intellectual disability, seizure, significant speech impairment, sleep disturbance, and autistic-like behavioural problems. Here we report a 7-year-old girl with intellectual disability and epilepsy without previous clinical diagnosis...
August 11, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28805580/tourette-syndrome-and-chronic-tic-disorders-the-clinical-spectrum-beyond-tics
#11
Davide Martino, Christos Ganos, Tamara M Pringsheim
The clinical surveillance and active management of Tourette syndrome (TS) and other primary chronic tic disorders cannot be limited to tics, as these patients manifest a spectrum of sensory-, behavioral-, cognitive-, and sleep-related problems that have a major impact on their functioning and quality of life, influencing enormously clinical decision making on a routine basis. The sensory phenomena of primary tic disorders consist of premonitory urges and heightened sensitivity to external somatosensory and interoceptive stimuli...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28802915/neurological-evaluation-of-the-selection-stage-of-metaphor-comprehension-in-individuals-with-and-without-autism-spectrum-disorder
#12
Brea Chouinard, Joanne Volden, Ivor Cribben, Jacqueline Cummine
Because of their difficulties with figurative language in conversation, it is commonly thought that individuals with autism spectrum disorder (ASD) do not understand figurative meaning. However, recent research indicates that individuals with and without ASD are similar in the first two stages of metaphor comprehension, up to and including successful generation of the figurative meaning. In the current study, we used a sentence decision task to evaluate the subsequent stage of metaphor comprehension, the selection stage, which requires suppression/inhibition of the unintended meaning as part of selecting the intended meaning...
August 9, 2017: Neuroscience
https://www.readbyqxmd.com/read/28802860/upregulation-of-il-9-and-jak-stat-signaling-pathway-in-children-with-autism
#13
Sheikh F Ahmad, Ahmed Nadeem, Mushtaq A Ansari, Saleh A Bakheet, Laila Yousef Al-Ayadhi, Sabry M Attia
Autism spectrum disorder (ASD) gradually develops predominantly neurodevelopmental disorders, which are socially diagnosed in early childhood. Though the etiopathology of ASD is not clear, immune alteration has been suggested as autism's pathophysiological mechanism. Previous studies found that several cytokines and transcription factor activation pathways were significantly increased in ASD. IL-9 has been confirmed to play a significant role in the central nervous system (CNS). The aim of the present study was to investigate the understudied role of pro- and anti-inflammatory cytokines and the JAK-STAT signaling pathway in ASD...
August 9, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28799289/prenatal-exposure-to-fever-is-associated-with-autism-spectrum-disorder-in-the-boston-birth-cohort
#14
Martha Brucato, Christine Ladd-Acosta, Mengying Li, Deanna Caruso, Xiumei Hong, Jamie Kaczaniuk, Elizabeth A Stuart, M Daniele Fallin, Xiaobin Wang
Autism spectrum disorder (ASD) is phenotypically and etiologically heterogeneous, with evidence for genetic and environmental contributions to disease risk. Research has focused on the prenatal period as a time where environmental exposures are likely to influence risk for ASD. Epidemiological studies have shown significant associations between prenatal exposure to maternal immune activation (MIA), caused by infections and fever, and ASD. However, due to differences in study design and exposure measurements no consistent patterns have emerged revealing specific times or type of MIA exposure that are most important to ASD risk...
August 11, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28798710/convergent-evaluation-of-working-memory-and-arithmetic-ability-in-a-child-with-autism-spectrum-disorder-without-intellectual-impairment
#15
Sandra Pellizzoni, Maria C Passolunghi
Studies focusing on a joint evaluation of both Working Memory (WM) and Math Ability (MA) in autism are far from abundant in literature, possibly due to inadequate methodological approaches and reported inconsistencies between results obtained in each separate field of research, resulting in contradictory conclusions. The specific aim of this case report is therefore evaluating and integrating results on these two cognitive abilities in a child with autism spectrum disorder without intellectual impairment. Our data on an autistic 10-year-old child (M...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28798667/the-foxp2-driven-network-in-developmental-disorders-and-neurodegeneration
#16
Franz Oswald, Patricia Klöble, André Ruland, David Rosenkranz, Bastian Hinz, Falk Butter, Sanja Ramljak, Ulrich Zechner, Holger Herlyn
The transcription repressor FOXP2 is a crucial player in nervous system evolution and development of humans and songbirds. In order to provide an additional insight into its functional role we compared target gene expression levels between human neuroblastoma cells (SH-SY5Y) stably overexpressing FOXP2 cDNA of either humans or the common chimpanzee, Rhesus monkey, and marmoset, respectively. RNA-seq led to identification of 27 genes with differential regulation under the control of human FOXP2, which were previously reported to have FOXP2-driven and/or songbird song-related expression regulation...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28797309/aging-well-on-the-autism-spectrum-the-perspectives-of-autistic-adults-and-carers
#17
Ye In Jane Hwang, Kitty-Rose Foley, Julian N Trollor
BACKGROUND: "Aging well" is an increasingly popular concept in gerontology. Adults with disabilities such as autism spectrum disorder represent a demographically substantial population, yet remain excluded from existing conceptualizations of aging well. This qualitative study aimed to explore what it means for autistic adults to "age well" from the perspectives of autistic adults and carers. METHODS: Twenty-four semi-structured interviews were conducted with 15 autistic adults (mean age 50...
August 11, 2017: International Psychogeriatrics
https://www.readbyqxmd.com/read/28797223/clinicians-views-on-working-with-anorexia-nervosa-and-autism-spectrum-disorder-comorbidity-a-qualitative-study
#18
Emma Kinnaird, Caroline Norton, Kate Tchanturia
BACKGROUND: Anorexia nervosa (AN) and autism spectrum disorder (ASD) form a relatively common comorbidity, with poorer illness outcomes and poorer responses to treatments for AN compared to individuals without ASD. However, the treatment of this comorbidity remains poorly understood: no research to date has examined how clinicians currently approach treating AN/ASD. This study aimed to explore the experiences of clinicians working with comorbid AN/ASD using qualitative methods in order to identify areas for future improvement...
August 10, 2017: BMC Psychiatry
https://www.readbyqxmd.com/read/28795836/smile-social-reward-drives-attention
#19
Dana A Hayward, Effie J Pereira, A Ross Otto, Jelena Ristic
Human social behavior is fine-tuned by interactions between individuals and their environments. Here we show that social motivation plays an important role in this process. Using a novel manipulation of social reward that included elements of real-life social exchanges, we demonstrate the emergence of attentional orienting for coincidental spatial associations that received positive social reward. After an interaction with the experimenter, participants completed a computerized task in which they received positive, negative, or no social reward for their performance to spatially congruent, spatially incongruent, and neutral cue-target pairings, respectively...
August 10, 2017: Journal of Experimental Psychology. Human Perception and Performance
https://www.readbyqxmd.com/read/28795659/role-of-mycotoxins-in-the-pathobiology-of-autism-a-first-evidence
#20
Barbara De Santis, Carlo Brera, Alessandra Mezzelani, Sabina Soricelli, Francesca Ciceri, Giorgio Moretti, Francesca Debegnach, Maria Clara Bonaglia, Laura Villa, Massimo Molteni, Maria Elisabetta Raggi
OBJECTIVES: Gene-environment interaction is an emerging hypothesis to expound not only the autism pathogenesis but also the increased incidence of neurodevelopmental disorders (such as autistic spectrum disorder, attention-deficit, hyperactivity disorder). Among xenobiotics, mycotoxins are worldwide contaminants of food that provoke toxicological effects, crucially resembling several symptoms associated with autism such as oxidative stress, intestinal permeability, and inflammation. Here, we focused on a group of mycotoxins to test their role in the manifestation of autism, try to explain their mechanism of action, and discuss possible preventive and therapeutic interventions...
August 10, 2017: Nutritional Neuroscience
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