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https://www.readbyqxmd.com/read/28922833/the-knockout-of-synapsin-ii-in-mice-impairs-social-behavior-and-functional-connectivity-generating-an-asd-like-phenotype
#1
Caterina Michetti, Angela Caruso, Marco Pagani, Mara Sabbioni, Lucian Medrihan, Gergely David, Alberto Galbusera, Monica Morini, Alessandro Gozzi, Fabio Benfenati, Maria Luisa Scattoni
Autism spectrum disorders (ASD) and epilepsy are neurodevelopmental conditions that appear with high rate of co-occurrence, suggesting the possibility of a common genetic basis. Mutations in Synapsin (SYN) genes, particularly SYN1 and SYN2, have been recently associated with ASD and epilepsy in humans. Accordingly, mice lacking Syn1 or Syn2, but not Syn3, experience epileptic seizures and display autistic-like traits that precede the onset of seizures. Here, we analyzed social behavior and ultrasonic vocalizations emitted in 2 social contexts by SynI, SynII, or SynIII mutants and show that SynII mutants display the most severe ASD-like phenotype...
October 1, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28920569/high-functioning-autism-patients-share-similar-but-more-severe-impairments-in-verbal-theory-of-mind-than-schizophrenia-patients
#2
L N W Tin, S S Y Lui, K K Y Ho, K S Y Hung, Y Wang, H K H Yeung, T Y Wong, S M Lam, R C K Chan, E F C Cheung
BACKGROUND: Evidence suggests that autism and schizophrenia share similarities in genetic, neuropsychological and behavioural aspects. Although both disorders are associated with theory of mind (ToM) impairments, a few studies have directly compared ToM between autism patients and schizophrenia patients. This study aimed to investigate to what extent high-functioning autism patients and schizophrenia patients share and differ in ToM performance. METHODS: Thirty high-functioning autism patients, 30 schizophrenia patients and 30 healthy individuals were recruited...
September 18, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28919554/revisiting-the-wandering-womb-oxytocin-in-endometriosis-and-bipolar-disorder
#3
REVIEW
Natalie L Dinsdale, Bernard J Crespi
Hippocrates attributed women's high emotionality - hysteria - to a 'wandering womb'. Although hysteria diagnoses were abandoned along with the notion that displaced wombs cause emotional disturbance, recent research suggests that elevated levels of oxytocin occur in both bipolar disorder and endometriosis, a gynecological condition involving migration of endometrial tissue beyond the uterus. We propose and evaluate the hypothesis that elevated oxytocinergic system activity jointly contributes to bipolar disorder and endometriosis...
September 14, 2017: Hormones and Behavior
https://www.readbyqxmd.com/read/28914086/preliminary-efficacy-of-a-daily-living-skills-intervention-for-adolescents-with-high-functioning-autism-spectrum-disorder
#4
Amie Duncan, Lisa A Ruble, Jareen Meinzen-Derr, Carrie Thomas, Lori J Stark
Daily living skills deficits are strongly associated with poor adult outcomes for individuals with high-functioning autism spectrum disorder, and yet, there are no group interventions targeting daily living skills. Seven adolescents with autism spectrum disorder and their parents participated in a feasibility pilot of a 12-week manualized group treatment targeting specific daily living skills (i.e. morning routine, cooking, laundry, and money management). Outcomes included the Vineland Adaptive Behavior Scales, Second Edition (Vineland-II) age equivalence scores and four goal attainment scaling scores...
September 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/28913566/adar-rna-editing-in-human-disease-more-to-it-than-meets-the-i
#5
REVIEW
Angela Gallo, Dragana Vukic, David Michalík, Mary A O'Connell, Liam P Keegan
We review the structures and functions of ADARs and their involvements in human diseases. ADAR1 is widely expressed, particularly in the myeloid component of the blood system, and plays a prominent role in promiscuous editing of long dsRNA. Missense mutations that change ADAR1 residues and reduce RNA editing activity cause Aicardi-Goutières Syndrome, a childhood encephalitis and interferonopathy that mimics viral infection and resembles an extreme form of Systemic Lupus Erythmatosus (SLE). In Adar1 mouse mutant models aberrant interferon expression is prevented by eliminating interferon activation signaling from cytoplasmic dsRNA sensors, indicating that unedited cytoplasmic dsRNA drives the immune induction...
September 14, 2017: Human Genetics
https://www.readbyqxmd.com/read/28903722/eeg-power-at-3%C3%A2-months-in-infants-at-high-familial-risk-for-autism
#6
April R Levin, Kandice J Varcin, Heather M O'Leary, Helen Tager-Flusberg, Charles A Nelson
BACKGROUND: Alterations in brain development during infancy may precede the behavioral manifestation of developmental disorders. Infants at increased risk for autism are also at increased risk for other developmental disorders, including, quite commonly, language disorders. Here we assess the extent to which electroencephalographic (EEG) differences in infants at high versus low familial risk for autism are present by 3 months of age, and elucidate the functional significance of EEG power at 3 months in predicting later development...
September 13, 2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28887386/fragile-x-mental-retardation-protein-restricts-small-dye-iontophoresis-entry-into-central-neurons
#7
Tyler Kennedy, Kendal Broadie
Fragile X Mental Retardation Protein (FMRP) loss causes Fragile X syndrome (FXS), a major disorder characterized by autism, intellectual disability, hyperactivity and seizures. FMRP is both an RNA- and channel-binding regulator, with critical roles in neural circuit formation and function. However, it remains unclear how these FMRP activities relate to each other and how dysfunction in their absence underlies FXS neurological symptoms. In testing circuit level defects in the Drosophila FXS model, we discovered a completely unexpected and highly robust neuronal dye iontophoresis phenotype in the well-mapped Giant Fiber (GF) circuit...
September 8, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28881454/hypersensitivity-to-low-intensity-fearful-faces-in-autism-when-fixation-is-constrained-to-the-eyes
#8
Amandine Lassalle, Jakob Åsberg Johnels, Nicole R Zürcher, Loyse Hippolyte, Eva Billstedt, Noreen Ward, Eric Lemonnier, Christopher Gillberg, Nouchine Hadjikhani
Previous studies that showed decreased brain activation in people with autism spectrum disorder (ASD) viewing expressive faces did not control that participants looked in the eyes. This is problematic because ASD is characterized by abnormal attention to the eyes. Here, we collected fMRI data from 48 participants (27 ASD) viewing pictures of neutral faces and faces expressing anger, happiness, and fear at low and high intensity, with a fixation cross between the eyes. Group differences in whole brain activity were examined for expressive faces at high and low intensity versus neutral faces...
September 7, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28878717/understanding-the-self-in-individuals-with-autism-spectrum-disorders-asd-a-review-of-literature
#9
REVIEW
Ann X Huang, Tammy L Hughes, Lawrence R Sutton, Marissa Lawrence, Xiaohan Chen, Zhe Ji, Waganesh Zeleke
When the system of self is explored in individuals with Autism Spectrum Disorders (ASDs), it is important to measure it via both their own perceptions of the self and their understanding of others' perceptions on themselves at a multidimensional level. This paper reviews existing research in this area using a three-dimension approach. Researchers have found that impairments in the self-system are usually correlated with these individuals' social and cognitive functioning levels: high functioning individuals with ASD who have higher IQ are found to have better awareness of their limitations in social and communication domains than those with lower IQ...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28873888/can-automated-facial-expression-analysis-show-differences-between-autism-and-typical-functioning
#10
Zsófia Borsos, Miklos Gyori
Exploratory analyses of emotional expressions using a commercially available facial expression recognition software are reported, from the context of a serious game for screening purposes. Our results are based on a comparative analysis of two matched groups of kindergarten-age children (high-functioning children with autism spectrum condition: n=13; typically developing children: n=13). Results indicate that this technology has the potential to identify autism-specific emotion expression features, and may play a role in affective diagnostic and assistive technologies...
2017: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/28873419/gender-and-autistic-traits-modulate-implicit-motor-synchrony
#11
Miao Cheng, Masaharu Kato, Chia-Huei Tseng
Interpersonal motor synchrony during walking or dancing is universally observed across cultures, and this joint movement was modulated by physical and social parameters. However, human interactions are greatly shaped by our unique traits, and self-related factors are surprisingly little studied in the context of interpersonal motor synchrony. In this study, we investigated two such factors known to be highly associated with motor coordination: gender and autistic traits. We employed a real-world task extending our understanding beyond laboratory tasks...
2017: PloS One
https://www.readbyqxmd.com/read/28871217/diagnosing-autism-spectrum-disorder-from-brain-resting-state-functional-connectivity-patterns-using-a-deep-neural-network-with-a-novel-feature-selection-method
#12
Xinyu Guo, Kelli C Dominick, Ali A Minai, Hailong Li, Craig A Erickson, Long J Lu
The whole-brain functional connectivity (FC) pattern obtained from resting-state functional magnetic resonance imaging data are commonly applied to study neuropsychiatric conditions such as autism spectrum disorder (ASD) by using different machine learning models. Recent studies indicate that both hyper- and hypo- aberrant ASD-associated FCs were widely distributed throughout the entire brain rather than only in some specific brain regions. Deep neural networks (DNN) with multiple hidden layers have shown the ability to systematically extract lower-to-higher level information from high dimensional data across a series of neural hidden layers, significantly improving classification accuracy for such data...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28869354/working-memory-network-alterations-in-high-functioning-adolescents-with-an-autism-spectrum-disorder
#13
Evelien M Barendse, Lisanne J Schreuder, Geert Thoonen, Marc P H Hendriks, Roy P C Kessels, Walter H Backes, Albert P Aldenkamp, Jacobus F A Jansen
AIM: People with autism spectrum disorder (ASD) typically have deficits in the working memory (WM) system. Working memory is found to be an essential chain in successfully navigating in the social world. We hypothesize that brain networks for WM have an altered network integrity in ASD compared to controls. METHODS: 13 adolescents (1 female) with autistic disorder (n = 1), Asperger's disorder (n = 7), and pervasive developmental disorder not otherwise specified (n = 5), and 13 typically developing control adolescents (1 female) participated in this study...
September 4, 2017: Psychiatry and Clinical Neurosciences
https://www.readbyqxmd.com/read/28867142/exonic-mosaic-mutations-contribute-risk-for-autism-spectrum-disorder
#14
Deidre R Krupp, Rebecca A Barnard, Yannis Duffourd, Sara A Evans, Ryan M Mulqueen, Raphael Bernier, Jean-Baptiste Rivière, Eric Fombonne, Brian J O'Roak
Genetic risk factors for autism spectrum disorder (ASD) have yet to be fully elucidated. Postzygotic mosaic mutations (PMMs) have been implicated in several neurodevelopmental disorders and overgrowth syndromes. By leveraging whole-exome sequencing data on a large family-based ASD cohort, the Simons Simplex Collection, we systematically evaluated the potential role of PMMs in autism risk. Initial re-evaluation of published single-nucleotide variant (SNV) de novo mutations showed evidence consistent with putative PMMs for 11% of mutations...
September 7, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28863129/insulin-like-growth-factor-type-1-and-its-relation-with-neuropsychiatric-disorders
#15
REVIEW
Jonathan Adrián Zegarra-Valdivia
The study of different neurotrophic factors, including insulin-like growth factor-1 (IGF-1), has become relevant in recent years because of its role in brain activity and its potential therapeutic applications. This article reviews IGF-1 in relation to neuropsychiatric disorders such as autism, anxiety, depression, post-traumatic stress disorder and Alzheimer's disease. An exhaustive search of different original articles, clinical, experimental, and review studies was carried out in MEDLINE/PubMed and ScienceDirect databases, selecting 80 high-impact post-2000 publications...
August 28, 2017: Medwave
https://www.readbyqxmd.com/read/28857804/social-responsiveness-scale-assessment-of-the-preterm-behavioral-phenotype-in-10-year-olds-born-extremely-preterm
#16
Steven J Korzeniewski, Robert M Joseph, So Hyun Kim, Elizabeth N Allred, T Michael OʼShea, Alan Leviton, Karl C K Kuban
OBJECTIVE: To evaluate the correlates of a clinically significant high score on the Social Responsiveness Scale (SRS) in 10-year-old children who were born extremely preterm and who did not meet criteria for autism spectrum disorder (ASD). METHODS: After excluding 61 participants diagnosed with ASD, we grouped children by IQ < or ≥85 and then compared the prevalence of neurocognitive and other deficits between those who had SRS total and component scores ≥65 and their peers who had lower scores...
August 28, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28852712/further-investigations-of-the-w-test-for-pairwise-epistasis-testing
#17
Richard Howey, Heather J Cordell
Background: In a recent paper, a novel W-test for pairwise epistasis testing was proposed that appeared, in computer simulations, to have higher power than competing alternatives. Application to genome-wide bipolar data detected significant epistasis between SNPs in genes of relevant biological function. Network analysis indicated that the implicated genes formed two separate interaction networks, each containing genes highly related to autism and neurodegenerative disorders. Methods: Here we investigate further the properties and performance of the W-test via theoretical evaluation, computer simulations and application to real data...
2017: Wellcome Open Research
https://www.readbyqxmd.com/read/28845892/multiple-functional-networks-modeling-for-autism-spectrum-disorder-diagnosis
#18
Tae-Eui Kam, Heung-Il Suk, Seong-Whan Lee
Despite countless studies on autism spectrum disorder (ASD), diagnosis relies on specific behavioral criteria and neuroimaging biomarkers for the disorder are still relatively scarce and irrelevant for diagnostic workup. Many researchers have focused on functional networks of brain activities using resting-state functional magnetic resonance imaging (rsfMRI) to diagnose brain diseases, including ASD. Although some existing methods are able to reveal the abnormalities in functional networks, they are either highly dependent on prior assumptions for modeling these networks or do not focus on latent functional connectivities (FCs) by considering discriminative relations among FCs in a nonlinear way...
August 28, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28844798/utility-of-the-autism-observation-scale-for-infants-in-early-identification-of-autism-in-tuberous-sclerosis-complex
#19
Jamie K Capal, Paul S Horn, Donna S Murray, Anna Weber Byars, Nicole M Bing, Bridget Kent, Lindsey A Bucher, Marian E Williams, Sarah O'Kelley, Deborah A Pearson, Mustafa Sahin, Darcy A Krueger
BACKGROUND: Tuberous sclerosis complex (TSC) is a genetic disorder with high prevalence of associated autism spectrum disorder (ASD). Our primary objectives were to determine early predictors of autism risk to identify children with TSC in most need of early interventions. The Autism Observation Scale for Infants (AOSI) was evaluated as a measure of ASD-associated behaviors in infants with TSC at age 12 months and its ability to predict ASD at 24 months. METHODS: Children ages 0 to 36 months with TSC were enrolled in the TSC Autism Center of Excellence Research Network (TACERN), a multicenter, prospective observational study to identify biomarkers of ASD...
June 27, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28844789/protocadherin-10-alters-%C3%AE-oscillations-amino-acid-levels-and-their-coupling-baclofen-partially-restores-these-oscillatory-deficits
#20
Russell G Port, Christopher Gajewski, Elizabeth Krizman, Holly C Dow, Shinji Hirano, Edward S Brodkin, Gregory C Carlson, Michael B Robinson, Timothy P L Roberts, Steven J Siegel
Approximately one in 45 children have been diagnosed with Autism Spectrum Disorder (ASD), which is characterized by social/communication impairments. Recent studies have linked a subset of familial ASD to mutations in the Protocadherin 10 (Pcdh10) gene. Additionally, Pcdh10's expression pattern, as well as its known role within protein networks, implicates the gene in ASD. Subsequently, the neurobiology of mice heterozygous for Pcdh10 (Pcdh10(+/-)) has been investigated as a proxy for ASD. Male Pcdh10(+/-) mice have demonstrated sex-specific deficits in social behavior, recapitulating the gender bias observed in ASD...
August 24, 2017: Neurobiology of Disease
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