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https://www.readbyqxmd.com/read/28516424/differing-developmental-trajectories-in-heart-rate-responses-to-speech-stimuli-in-infants-at-high-and-low-risk-for-autism-spectrum-disorder
#1
Katherine L Perdue, Laura A Edwards, Helen Tager-Flusberg, Charles A Nelson
We investigated heart rate (HR) in infants at 3, 6, 9, and 12 months of age, at high (HRA) and low (LRC) familial risk for ASD, to identify potential endophenotypes of ASD risk related to attentional responses. HR was extracted from functional near-infrared spectroscopy recordings while infants listened to speech stimuli. Longitudinal analysis revealed that HRA infants and males generally had lower baseline HR than LRC infants and females. HRA infants showed decreased HR responses to early trials over development, while LRC infants showed increased responses...
May 17, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28516423/exploring-the-components-of-advanced-theory-of-mind-in-autism-spectrum-disorder
#2
C Pedreño, E Pousa, J B Navarro, M Pàmias, J E Obiols
Performance of a group of 35 youth and adults with High-Functioning Autism (HFA) was compared with a typical developing (TD) group on three Advanced Theory of Mind tests. The distinction between the social-cognitive and social-perceptual components of Theory of Mind was also explored. The HFA group had more difficulties in all tasks. Performance on the two social-cognitive tests was highly correlated in the HFA group, but these were not related with the social-perceptual component. These results suggest that the youth with HFA have difficulties on all the components of social knowledge but may be using different underlying cognitive abilities depending on the nature of the task...
May 17, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28503910/post-zygotic-single-nucleotide-mosaicisms-contribute-to-the-etiology-of-autism-spectrum-disorder-and-autistic-traits-and-the-origin-of-mutations
#3
Yanmei Dou, Xiaoxu Yang, Ziyi Li, Sheng Wang, Zheng Zhang, Adam Yongxin Ye, Linlin Yan, Changhong Yang, Qixi Wu, Jiarui Li, Boxun Zhao, August Yue Huang, Liping Wei
The roles and characteristics of post-zygotic single-nucleotide mosaicisms (pSNMs) in autism spectrum disorders (ASD) remain unclear. In this study of the whole-exomes of 2,321 families in the Simons Simplex Collection (SSC), we identified 1,248 putative pSNMs in children and 285 de novo SNPs in children with detectable parental mosaicism. Ultra-deep amplicon resequencing suggested a validation rate of 51%. Analyses of validated pSNMs revealed that missense/loss-of-function (LoF) pSNMs with a high mutant allele fraction (MAF> = 0...
May 14, 2017: Human Mutation
https://www.readbyqxmd.com/read/28479476/high-resolution-magnetic-resonance-imaging-reveals-nuclei-of-the-human-amygdala-manual-segmentation-to-automatic-atlas
#4
Z M Saygin, D Kliemann, J E Iglesias, A J W van der Kouwe, E Boyd, M Reuter, A Stevens, K Van Leemput, A McKee, M P Frosch, B Fischl, J C Augustinack
The amygdala is composed of multiple nuclei with unique functions and connections in the limbic system and to the rest of the brain. However, standard in vivo neuroimaging tools to automatically delineate the amygdala into its multiple nuclei are still rare. By scanning postmortem specimens at high resolution (100-150µm) at 7T field strength (n = 10), we were able to visualize and label nine amygdala nuclei (anterior amygdaloid, cortico-amygdaloid transition area; basal, lateral, accessory basal, central, cortical medial, paralaminar nuclei)...
May 4, 2017: NeuroImage
https://www.readbyqxmd.com/read/28474512/atypical-perception-in-autism-a-failure-of-perceptual-specialization
#5
Bat Sheva Hadad, Eugenia K Goldstein, Natalie N Russo
We examined whether reduced perceptual specialization underlies atypical perception in autism spectrum disorder (ASD) testing classifications of stimuli that differ either along integral dimensions (prototypical integral dimensions of value and chroma), or along separable dimensions (prototypical separable dimensions of value and size). Current models of the perception of individuals with an ASD would suggest that on these tasks, individuals with ASD would be as, or more, likely to process dimensions as separable, regardless of whether they represented separable or integrated dimensions...
May 5, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28474228/teaching-functional-play-skills-to-a-young-child-with-autism-spectrum-disorder-through-video-self-modeling
#6
Sharon Y Lee, Ya-Yu Lo, Yafen Lo
The researchers used a single-case, multiple probe design across three sets of toys (i.e., farm toy, doctor's clinic toy, and rescue toy) to examine the effects of video self-modeling (VSM) on the functional play skills of a 5-year-old child with autism spectrum disorder. The findings showed a functional relation between VSM and increased percentages of functional play actions across the toy sets. The participant's percentages of the targeted functional play skills for the intervention toys remained high 1 week and 2 weeks after the intervention ceased...
May 4, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28469556/integrative-analysis-of-brain-region-specific-shank3-interactomes-for-understanding-the-heterogeneity-of-neuronal-pathophysiology-related-to-shank3-mutations
#7
Yeunkum Lee, Hyojin Kang, Bokyoung Lee, Yinhua Zhang, Yoonhee Kim, Shinhyun Kim, Won-Ki Kim, Kihoon Han
Recent molecular genetic studies have identified 100s of risk genes for various neurodevelopmental and neuropsychiatric disorders. As the number of risk genes increases, it is becoming clear that different mutations of a single gene could cause different types of disorders. One of the best examples of such a gene is SHANK3, which encodes a core scaffold protein of the neuronal excitatory post-synapse. Deletions, duplications, and point mutations of SHANK3 are associated with autism spectrum disorders, intellectual disability, schizophrenia, bipolar disorder, and attention deficit hyperactivity disorder...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28464350/development-and-validation-of-an-item-response-theory-based-social-responsiveness-scale-short-form
#8
Alexandra Sturm, Megan Kuhfeld, Connie Kasari, James T McCracken
BACKGROUND: Research and practice in autism spectrum disorder (ASD) rely on quantitative measures, such as the Social Responsiveness Scale (SRS), for characterization and diagnosis. Like many ASD diagnostic measures, SRS scores are influenced by factors unrelated to ASD core features. This study further interrogates the psychometric properties of the SRS using item response theory (IRT), and demonstrates a strategy to create a psychometrically sound short form by applying IRT results...
May 2, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28455721/broad-cognitive-profile-in-children-and-adolescents-with-hf-asd-and-in-their-siblings-widespread-underperformance-and-its-clinical-and-adaptive-correlates
#9
Mireia Rosa, Olga Puig, Luisa Lázaro, Virginia Vallés, Sara Lera, Vanesa Sánchez-Gistau, Rosa Calvo
Despite evidence supporting the presence of cognitive deficits in children and adolescents with high-functioning autism spectrum disorder (HF-ASD), the nature of these deficits and their clinical and adaptive correlates remain unclear. Moreover, there are few cognitive studies of ASD siblings as a high risk population. We compared 50 children and adolescents with HF-ASD, 22 unaffected siblings of the HF-ASD sample and 34 community controls using an extensive neuropsychological battery. Planning, cognitive flexibility, verbal and working memory, visual local-global processing and emotion recognition are impaired in HF-ASD...
April 28, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28452081/heightened-brain-response-to-pain-anticipation-in-high-functioning-adults-with-autism-spectrum-disorder
#10
Xiaosi Gu, Thomas J Zhou, Evdokia Anagnostou, Latha Soorya, Alexander Kolevzon, Patrick R Hof, Jin Fan
Autism spectrum disorder (ASD) is marked by both socio-communicative difficulties and abnormalities in sensory processing. Much of the work on sensory deficits in ASD has focused on tactile sensations and the perceptual aspects of somatosensation, such as encoding of stimulus intensity and location. Although aberrant pain processing has often been noted in clinical observations of patients with ASD, it remains largely uninvestigated. Importantly, the neural mechanism underlying higher-order cognitive aspects of pain processing such as pain anticipation also remains unknown...
April 27, 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/28451631/gaba-b-agonist-baclofen-normalizes-auditory-evoked-neural-oscillations-and-behavioral-deficits-in-the-fmr1-knockout-mouse-model-of-fragile-x-syndrome
#11
D Sinclair, R Featherstone, M Naschek, J Nam, A Du, S Wright, K Pance, O Melnychenko, R Weger, S Akuzawa, M Matsumoto, S J Siegel
Fragile X syndrome is a genetic condition resulting from FMR1 gene mutation that leads to intellectual disability, autism-like symptoms, and sensory hypersensitivity. Arbaclofen, a GABA-B agonist, has shown efficacy in some individuals with FXS but has become unavailable after unsuccessful clinical trials, prompting interest in publicly available, racemic baclofen. The present study investigated whether racemic baclofen can remediate abnormalities of neural circuit function, sensory processing, and behavior in Fmr1 knockout mice, a rodent model of fragile X syndrome...
January 2017: ENeuro
https://www.readbyqxmd.com/read/28449247/informant-discrepancy-defines-discrete-clinically-useful-autism-spectrum-disorder-subgroups
#12
Matthew D Lerner, Andres De Los Reyes, Deborah A G Drabick, Alan H Gerber, Kenneth D Gadow
BACKGROUND: Discrepancy between informants (parents and teachers) in severity ratings of core symptoms commonly arise when assessing autism spectrum disorder (ASD). Whether such discrepancy yields unique information about the ASD phenotype and its clinical correlates has not been examined. We examined whether degree of discrepancy between parent and teacher ASD symptom ratings defines discrete, clinically meaningful subgroups of youth with ASD using an efficient, cost-effective procedure...
April 27, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28447214/eeg-abnormalities-and-long-term-seizure-outcome-in-high-functioning-autism
#13
Özdem Ertürk Çetin, Barış Korkmaz, Gülce Alev, Veysi Demirbilek
Electroencephalographic abnormalities may occur in autistic spectrum disorders (ASD) even in the absence of clinical seizures. These abnormalities may vary from nonspecific changes to epileptiform abnormalities and are more common compared to the overall population. The level of intelligence is a significant risk factor for epilepsy in ASD. However, the relation between the functionality of the individuals with autism and the electroencephalographic (EEG) abnormalities, and the clinical significance of these abnormalities still remain relatively unclear...
April 26, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/28446869/fnirs-studies-on-hemispheric-asymmetry-in-atypical-neural-function-in-developmental-disorders
#14
REVIEW
Hirokazu Doi, Kazuyuki Shinohara
Functional lateralization is highly replicable trait of human neural system. Many previous studies have indicated the possibility that people with attention-deficits/hyperactivity-disorder (ADHD) and autism spectrum disorder (ASD) show hemispheric asymmetry in atypical neural function. However, despite the abundance of relevant studies, there is still ongoing controversy over this issue. In the present mini-review, we provide an overview of the hemispheric asymmetry in atypical neural function observed in fNIRS studies on people with these conditions...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28442424/thioredoxin-is-not-a-marker-for-treatment-resistance-depression-but-associated-with-cognitive-function-an-rtms-study
#15
Efruz Pirdogan Aydın, Abdullah Genc, Mihriban Dalkıran, Ece Türkyilmaz Uyar, Ömer Akil Özer, Kayıhan Oğuz Karamustafalıoğlu
Elevated oxidative stress is known to play an important role in development of depression and cognitive dysfunction. To date, thioredoxin (TRX), an antioxidant protein, has been investigated as a marker for psychiatric disorders such as schizophrenia, bipolar disorder and autism but its relationship with depression is yet to be unknown. The aim of this study is to detect the TRX levels in patients with treatment-resistant depression (TRD), analyse the effect of rTMS (repetitive transcranial magnetic stimulation) application on TRX levels and display the relationship of TRX with cognitive areas...
April 22, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28436341/insular-pathology-in-young-people-with-high-functioning-autism-and-first-episode-psychosis
#16
M Parellada, L Pina-Camacho, C Moreno, Y Aleman, M-O Krebs, M Desco, J Merchán-Naranjo, A Del Rey-Mejías, L Boada, C Llorente, D Moreno, C Arango, J Janssen
BACKGROUND: Autism Spectrum Disorders (ASD) and psychosis share deficits in social cognition. The insular region has been associated with awareness of self and reality, which may be basic for proper social interactions. METHODS: Total and regional insular volume and thickness measurements were obtained from a sample of 30 children and adolescents with ASD, 29 with early onset first-episode psychosis (FEP), and 26 healthy controls (HC). Total, regional, and voxel-level volume and thickness measurements were compared between groups (with correction for multiple comparisons), and the relationship between these measurements and symptom severity was explored...
April 24, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28429605/parent-perspectives-on-home-participation-of-high-functioning-children-with-autism-spectrum-disorder-compared-with-a-matched-group-of-children-without-autism-spectrum-disorder
#17
Snæfrídur T Egilson, Gunnhildur Jakobsdóttir, Linda B Ólafsdóttir
Few studies have focused on home participation of high-functioning children with autism spectrum disorder. We employed a mixed-methods design to explore and compare parent perspectives on (1) participation of children with and without autism spectrum disorder in activities at home, (2) the environmental features and resources that affect these children's home participation and (3) the strategies parents use to help their children participate at home. The Participation and Environment Measure for Children and Youth (PEM-CY) was used to gather online survey and qualitative data from parents of 99 high-functioning children with autism spectrum disorder and 241 children without autism spectrum disorder...
April 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/28427329/cross-disorder-comparative-analysis-of-comorbid-conditions-reveals-novel-autism-candidate-genes
#18
Leticia Diaz-Beltran, Francisco J Esteban, Maya Varma, Alp Ortuzk, Maude David, Dennis P Wall
BACKGROUND: Numerous studies have highlighted the elevated degree of comorbidity associated with autism spectrum disorder (ASD). These comorbid conditions may add further impairments to individuals with autism and are substantially more prevalent compared to neurotypical populations. These high rates of comorbidity are not surprising taking into account the overlap of symptoms that ASD shares with other pathologies. From a research perspective, this suggests common molecular mechanisms involved in these conditions...
April 20, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28422133/gene-set-analysis-shows-association-between-fmrp-targets-and-autism-spectrum-disorder
#19
Arija Jansen, Gwen C Dieleman, August B Smit, Matthijs Verhage, Frank C Verhulst, Tinca J C Polderman, Danielle Posthuma
Autism spectrum disorder (ASD) is a heterogeneous group of disorders characterized by problems with social interaction, communication, and repetitive and restricted behavior. Despite its high heritability and the substantial progress made in elucidating genetic associations, the corresponding biological mechanisms are largely unknown. Our objective is to investigate the contribution of common genetic variation to biological pathways functionally involved in ASD. We conducted gene-set analyses to identify ASD-associated functional biological pathways using the statistical tools MAGMA and INRICH...
April 19, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28421658/transcriptional-signatures-of-connectomic-subregions-of-the-human-striatum
#20
Linden Parkes, Ben Fulcher, Murat Yücel, Alex Fornito
Functionally distinct regions of the brain are thought to possess a characteristic connectional fingerprint - a profile of incoming and outgoing connections that defines the function of that area. This observation has motivated efforts to subdivide brain areas using their connectivity patterns. However, it remains unclear whether these connectomically-defined subregions can be distinguished at the molecular level. Here, we combine high-resolution diffusion-weighted magnetic resonance imaging with transcriptomic data to show that connectomically-defined subregions of the striatum carry distinct transcriptional signatures...
April 19, 2017: Genes, Brain, and Behavior
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