keyword
MENU ▼
Read by QxMD icon Read
search

High functioning autism

keyword
https://www.readbyqxmd.com/read/28334131/pca-leverage-outlier-detection-for-high-dimensional-functional-magnetic-resonance-imaging-data
#1
Amanda F Mejia, Mary Beth Nebel, Ani Eloyan, Brian Caffo, Martin A Lindquist
Outlier detection for high-dimensional (HD) data is a popular topic in modern statistical research. However, one source of HD data that has received relatively little attention is functional magnetic resonance images (fMRI), which consists of hundreds of thousands of measurements sampled at hundreds of time points. At a time when the availability of fMRI data is rapidly growing-primarily through large, publicly available grassroots datasets-automated quality control and outlier detection methods are greatly needed...
February 27, 2017: Biostatistics
https://www.readbyqxmd.com/read/28322282/maternal-immune-activation-dysregulation-of-the-fetal-brain-transcriptome-and-relevance-to-the-pathophysiology-of-autism-spectrum-disorder
#2
M V Lombardo, H M Moon, J Su, T D Palmer, E Courchesne, T Pramparo
Maternal immune activation (MIA) via infection during pregnancy is known to increase risk for autism spectrum disorder (ASD). However, it is unclear how MIA disrupts fetal brain gene expression in ways that may explain this increased risk. Here we examine how MIA dysregulates rat fetal brain gene expression (at a time point analogous to the end of the first trimester of human gestation) in ways relevant to ASD-associated pathophysiology. MIA downregulates expression of ASD-associated genes, with the largest enrichments in genes known to harbor rare highly penetrant mutations...
March 21, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28317384/exploring-possible-predictors-and-moderators-of-an-executive-function-training-for-children-with-an-autism-spectrum-disorder
#3
Marieke de Vries, Mathilde Ge Verdam, Pier Jm Prins, Ben A Schmand, Hilde M Geurts
Previously, a total of 121 children with an autism spectrum disorder (ASD) performed an adaptive working memory (WM)-training, an adaptive flexibility-training, or a non-adaptive control (mock)-training. Despite overall improvement, there were minor differences between the adaptive and mock-training conditions. Moreover, dropout was relatively high (26%). In the current study we explored potential predicting and moderating factors to clarify these findings. The effects of intelligence, autism traits, WM, flexibility, reward sensitivity and Theory of Mind on dropout, improvement during training, and improvement in everyday executive functioning (EF), ASD-like behavior, and Quality of Life (QoL) were studied...
March 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/28316774/glutathione-metabolism-in-the-prefrontal-brain-of-adults-with-high-functioning-autism-spectrum-disorder-an-mrs-study
#4
Dominique Endres, Ludger Tebartz van Elst, Simon A Meyer, Bernd Feige, Kathrin Nickel, Anna Bubl, Andreas Riedel, Dieter Ebert, Thomas Lange, Volkmar Glauche, Monica Biscaldi, Alexandra Philipsen, Simon J Maier, Evgeniy Perlov
BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disease characterized by difficulties in social communication, unusually restricted, repetitive behavior and interests, and specific abnormalities in language and perception. The precise etiology of ASD is still unknown and probably heterogeneous. In a subgroup of patients, toxic environmental exposure might lead to an imbalance between oxidative stress and anti-oxidant systems. Previous serum and postmortem studies measuring levels of glutathione (GSH), the main cellular free radical scavenger in the brain, have supported the hypothesis that this compound might play a role in the pathophysiology of autism...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28316753/a-resting-eeg-study-of-neocortical-hyperexcitability-and-altered-functional-connectivity-in-fragile-x-syndrome
#5
Jun Wang, Lauren E Ethridge, Matthew W Mosconi, Stormi P White, Devin K Binder, Ernest V Pedapati, Craig A Erickson, Matthew J Byerly, John A Sweeney
BACKGROUND: Cortical hyperexcitability due to abnormal fast-spiking inhibitory interneuron function has been documented in fmr1 KO mice, a mouse model of the fragile X syndrome which is the most common single gene cause of autism and intellectual disability. METHODS: We collected resting state dense-array electroencephalography data from 21 fragile X syndrome (FXS) patients and 21 age-matched healthy participants. RESULTS: FXS patients exhibited greater gamma frequency band power, which was correlated with social and sensory processing difficulties...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28304131/copy-number-variation-in-19-italian-multiplex-families-with-autism-spectrum-disorder-importance-of-synaptic-and-neurite-elongation-genes
#6
Carla Lintas, Chiara Picinelli, Ignazio Stefano Piras, Roberto Sacco, Claudia Brogna, Antonio M Persico
Autism Spectrum Disorder (ASD) is endowed with impressive heritability estimates and high recurrence rates. Its genetic underpinnings are nonetheless very heterogeneous, with common, and rare contributing variants located in hundreds of different loci, each characterized by variable levels of penetrance. Multiplex families from single ethnic groups represent a useful means to reduce heterogeneity and enhance genetic load. We screened 19 Italian ASD multiplex families (3 triplets and 16 duplets, total N = 41 ASD subjects), using array-CGH (Agilent 180 K)...
March 17, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28297715/autism-gene-ube3a-and-seizures-impair-sociability-by-repressing-vta-cbln1
#7
Vaishnav Krishnan, David C Stoppel, Yi Nong, Mark A Johnson, Monica J S Nadler, Ekim Ozkaynak, Brian L Teng, Ikue Nagakura, Fahim Mohammad, Michael A Silva, Sally Peterson, Tristan J Cruz, Ekkehard M Kasper, Ramy Arnaout, Matthew P Anderson
Maternally inherited 15q11-13 chromosomal triplications cause a frequent and highly penetrant type of autism linked to increased gene dosages of UBE3A, which encodes a ubiquitin ligase with transcriptional co-regulatory functions. Here, using in vivo mouse genetics, we show that increasing UBE3A in the nucleus downregulates the glutamatergic synapse organizer Cbln1, which is needed for sociability in mice. Epileptic seizures also repress Cbln1 and are found to expose sociability impairments in mice with asymptomatic increases in UBE3A...
March 23, 2017: Nature
https://www.readbyqxmd.com/read/28296973/quantitative-analysis-of-disfluency-in-children-with-autism-spectrum-disorder-or-language-impairment
#8
Heather MacFarlane, Kyle Gorman, Rosemary Ingham, Alison Presmanes Hill, Katina Papadakis, Géza Kiss, Jan van Santen
Deficits in social communication, particularly pragmatic language, are characteristic of individuals with autism spectrum disorder (ASD). Speech disfluencies may serve pragmatic functions such as cueing speaking problems. Previous studies have found that speakers with ASD differ from typically developing (TD) speakers in the types and patterns of disfluencies they produce, but fail to provide sufficiently detailed characterizations of the methods used to categorize and quantify disfluency, making cross-study comparison difficult...
2017: PloS One
https://www.readbyqxmd.com/read/28296079/magel2-knockout-mice-manifest-altered-social-phenotypes-and-a-deficit-in-preference-for-social-novelty
#9
Michael D Fountain, Huifang Tao, Chun-An Chen, Jiani Yin, Christian P Schaaf
MAGEL2 is one of five protein-coding, maternally imprinted, paternally expressed genes in the Prader-Willi syndrome-critical domain on chromosome 15q11-q13. Truncating pathogenic variants of MAGEL2 cause Schaaf-Yang syndrome (OMIM #615547), a neurodevelopmental disorder related to Prader-Willi syndrome. Affected individuals manifest a spectrum of neurocognitive and behavioral phenotypes, including intellectual disability and autism spectrum disorder (ASD). Magel2 knockout mice carrying a maternally inherited, imprinted wildtype allele and a paternally inherited Magel2-lacZ knock-in allele, which abolishes endogenous Magel2 gene function, exhibit several features reminiscent of the human Prader-Willi phenotypes, including neonatal growth retardation, excessive weight gain after weaning, and increased adiposity in adulthood...
March 13, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28290128/sensitivity-to-the-prototype-in-children-with-high-functioning-autism-spectrum-disorder-an-example-of-bayesian-cognitive-psychometrics
#10
Wouter Voorspoels, Isa Rutten, Annelies Bartlema, Francis Tuerlinckx, Wolf Vanpaemel
We present a case study of hierarchical Bayesian explanatory cognitive psychometrics, examining information processing characteristics of individuals with high-functioning autism spectrum disorder (HFASD). On the basis of previously published data, we compare the classification behavior of a group of children with HFASD with that of typically developing (TD) controls using a computational model of categorization. The parameters in the model reflect characteristics of information processing that are theoretically related to HFASD...
March 13, 2017: Psychonomic Bulletin & Review
https://www.readbyqxmd.com/read/28284787/sensory-over-responsivity-and-social-cognition-in-asd-effects-of-aversive-sensory-stimuli-and-attentional-modulation-on-neural-responses-to-social-cues
#11
Shulamite A Green, Leanna M Hernandez, Hilary C Bowman, Susan Y Bookheimer, Mirella Dapretto
Sensory over-responsivity (SOR) is a common condition in autism spectrum disorders (ASD) that is associated with greater social impairment. However, the mechanisms through which sensory stimuli may affect social functioning are not well understood. This study used fMRI to examine brain activity while interpreting communicative intent in 15 high-functioning youth with ASD and 16 age- and IQ-matched typically-developing (TD) controls. Participants completed the task with and without a tactile sensory distracter, and with and without instructions directing their attention to relevant social cues...
February 21, 2017: Developmental Cognitive Neuroscience
https://www.readbyqxmd.com/read/28283559/a-rare-variant-identified-within-the-glun2b-c-terminus-in-a-patient-with-autism-affects-nmda-receptor-surface-expression-and-spine-density
#12
Shuxi Liu, Liang Zhou, Hongjie Yuan, Marta Vieira, Antonio Sanz-Clemente, John D Badger, Wei Lu, Stephen F Traynelis, Katherine W Roche
NMDA receptors (NMDARs) are ionotropic glutamate receptors that are crucial for neuronal development and higher cognitive processes. NMDAR dysfunction is involved in a variety of neurological and psychiatric diseases; however, the mechanistic link between the human pathology and NMDAR dysfunction is poorly understood. Rare missense variants within NMDAR subunits have been identified in numerous patients with mental or neurological disorders. We specifically focused on the GluN2B NMDAR subunit, which is highly expressed in the hippocampus and cortex throughout development...
March 10, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28275895/-emotiplay-a-serious-game-for-learning-about-emotions-in-children-with-autism-results-of-a-cross-cultural-evaluation
#13
S Fridenson-Hayo, S Berggren, A Lassalle, S Tal, D Pigat, N Meir-Goren, H O'Reilly, S Ben-Zur, S Bölte, S Baron-Cohen, O Golan
Children with autism spectrum conditions (ASC) experience difficulties recognizing others' emotions and mental states. It has been shown that serious games (SG) can produce simplified versions of the socio-emotional world. The current study performed a cross-cultural evaluation (in the UK, Israel and Sweden) of Emotiplay's SG, a system aimed to teach emotion recognition (ER) to children with ASC in an entertaining, and intrinsically motivating way. Participants were 6-9 year olds with high functioning ASC who used the SG for 8-12 weeks...
March 8, 2017: European Child & Adolescent Psychiatry
https://www.readbyqxmd.com/read/28275544/polygenic-risk-for-five-psychiatric-disorders-and-cross-disorder-and-disorder-specific-neural-connectivity-in-two-independent-populations
#14
Tianqi Wang, Xiaolong Zhang, Ang Li, Meifang Zhu, Shu Liu, Wen Qin, Jin Li, Chunshui Yu, Tianzi Jiang, Bing Liu
Major psychiatric disorders, including attention deficit hyperactivity disorder (ADHD), autism (AUT), bipolar disorder (BD), major depressive disorder (MDD), and schizophrenia (SZ), are highly heritable and polygenic. Evidence suggests that these five disorders have both shared and distinct genetic risks and neural connectivity abnormalities. To measure aggregate genetic risks, the polygenic risk score (PGRS) was computed. Two independent general populations (N = 360 and N = 323) were separately examined to investigate whether the cross-disorder PGRS and PGRS for a specific disorder were associated with individual variability in functional connectivity...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28270747/metabolic-dysfunction-underlying-autism-spectrum-disorder-and-potential-treatment-approaches
#15
REVIEW
Ning Cheng, Jong M Rho, Susan A Masino
Autism spectrum disorder (ASD) is characterized by deficits in sociability and communication, and increased repetitive and/or restrictive behaviors. While the etio-pathogenesis of ASD is unknown, clinical manifestations are diverse and many possible genetic and environmental factors have been implicated. As such, it has been a great challenge to identify key neurobiological mechanisms and to develop effective treatments. Current therapies focus on co-morbid conditions (such as epileptic seizures and sleep disturbances) and there is no cure for the core symptoms...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28265243/altered-intermittent-rhythmic-delta-and-theta-activity-in-the-electroencephalographies-of-high-functioning-adult-patients-with-autism-spectrum-disorder
#16
Dominique Endres, Simon Maier, Bernd Feige, Nicole A Posielski, Kathrin Nickel, Dieter Ebert, Andreas Riedel, Alexandra Philipsen, Evgeniy Perlov, Ludger Tebartz van Elst
Background: Autism spectrum disorder (ASD) is often associated with epilepsy. Previous studies have also shown increased rates of electroencephalographic (EEG) alteration in ASD patients without epilepsy. The aim of this study was to compare the rate of intermittent rhythmic delta and theta activity (IRDA/IRTA) events between high-functioning adult patients with ASD and matched healthy controls. Materials and Methods: Routine EEG records of 19 ASD patients and 19 matched controls were screened for IRDA/IRTA using a fully data driven analysis with fixed thresholds...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28263956/shank-proteins-limit-integrin-activation-by-directly-interacting-with-rap1-and%C3%A2-r-ras
#17
Johanna Lilja, Thomas Zacharchenko, Maria Georgiadou, Guillaume Jacquemet, Nicola De Franceschi, Emilia Peuhu, Hellyeh Hamidi, Jeroen Pouwels, Victoria Martens, Fatemeh Hassani Nia, Malte Beifuss, Tobias Boeckers, Hans-Juergen Kreienkamp, Igor L Barsukov, Johanna Ivaska
SHANK3, a synaptic scaffold protein and actin regulator, is widely expressed outside of the central nervous system with predominantly unknown function. Solving the structure of the SHANK3 N-terminal region revealed that the SPN domain is an unexpected Ras-association domain with high affinity for GTP-bound Ras and Rap G-proteins. The role of Rap1 in integrin activation is well established but the mechanisms to antagonize it remain largely unknown. Here, we show that SHANK1 and SHANK3 act as integrin activation inhibitors by sequestering active Rap1 and R-Ras via the SPN domain and thus limiting their bioavailability at the plasma membrane...
March 6, 2017: Nature Cell Biology
https://www.readbyqxmd.com/read/28259062/the-association-between-parents-ratings-of-asd-symptoms-and-anxiety-in-a-sample-of-high-functioning-boys-and-adolescents-with-autism-spectrum-disorder
#18
Vicki Bitsika, Christopher F Sharpley
BACKGROUND: The relationship between symptoms of Autism Spectrum Disorder (ASD) and Generalised Anxiety Disorder (GAD) is complex and sometimes confounding. However, exploration of that relationship has significant potential to assist in treatment or avoidance of GAD by identifying ASD-related behaviours as 'targets' for intervention with anxious children as well as for preventative treatments that could be implemented into daily routines before children become anxious. To further understanding of this relationship, the association between parent-ratings of their sons' ASD symptoms and GAD symptoms was investigated in two samples of boys with high-functioning ASD...
March 1, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28256685/-interventions-to-promote-social-communication-in-children-with-autism-spectrum-disorders
#19
I Baixauli-Fortea, B Rosello-Miranda, C Berenguer-Forner, C Colomer-Diago, M D Grau-Sevilla
INTRODUCTION: The difficulties encountered when it comes to social communication are one of the core disorders experienced by persons with autism spectrum disorders (ASD). This problem leads to feelings of loneliness and social exclusion, which negatively affect the quality of life. AIMS: To review the characteristics of the main interventions in this field in high-functioning ASD. DEVELOPMENT: Strategies employed include social stories, comic-strip conversations or videomodelling, and interventions mediated by peers and multicomponent treatments...
February 24, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28256682/-emotional-dysregulation-and-autism-spectrum-disorders
#20
A Hervas
INTRODUCTION: Autism spectrum disorders (ASD) are neurodevelopmental disorders that affect social communication and present stereotyped behaviours. They exhibit a wide range of phenotypic variability related with the capacity to use language for expression, cognitive skills and psychiatric comorbidities, among others. Psychiatric comorbidity is very frequent in ASD and in many cases it is multiple. Emotional dysregulation is related with ASD and with other psychiatric and neurodevelopmental disorders...
February 24, 2017: Revista de Neurologia
keyword
keyword
103720
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"