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https://www.readbyqxmd.com/read/28646201/comprehensive-investigation-of-temporal-and-autism-associated-cell-type-composition-dependent-and-independent-gene-expression-changes-in-human-brains
#1
Qianhui Yu, Zhisong He
The functions of human brains highly depend on the precise temporal regulation of gene expression, and the temporal brain transcriptome profile across lifespan has been observed. The substantial transcriptome alteration in neural disorders like autism has also been observed and is thought to be important for the pathology. While the cell type composition is known to be variable in brains, it remains unclear how it contributes to the temporal and pathological transcriptome changes in brains. Here, we applied a transcriptome deconvolution procedure to an age series RNA-seq dataset of healthy and autism samples, to quantify the contribution of cell type composition in shaping the temporal and autism pathological transcriptome in human brains...
June 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28641744/polygenic-risk-score-and-heritability-estimates-reveals-a-genetic-relationship-between-asd-and-ocd
#2
W Guo, J F Samuels, Y Wang, H Cao, M Ritter, P S Nestadt, J Krasnow, B D Greenberg, A J Fyer, J T McCracken, D A Geller, D L Murphy, J A Knowles, M A Grados, M A Riddle, S A Rasmussen, N C McLaughlin, E L Nurmi, K D Askland, B A Cullen, J Piacentini, D L Pauls, O J Bienvenu, S E Stewart, F S Goes, B Maher, A E Pulver, D Valle, M Mattheisen, J Qian, G Nestadt, Y Y Shugart
Obsessive-compulsive disorder (OCD) and Autism spectrum disorder (ASD) are both highly heritable neurodevelopmental disorders that conceivably share genetic risk factors. However, the underlying genetic determinants remain largely unknown. In this work, the authors describe a combined genome-wide association study (GWAS) of ASD and OCD. The OCD dataset includes 2998 individuals in nuclear families. The ASD dataset includes 6898 individuals in case-parents trios. GWAS summary statistics were examined for potential enrichment of functional variants associated with gene expression levels in brain regions...
July 2017: European Neuropsychopharmacology: the Journal of the European College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28634708/speaker-versus-listener-oriented-disfluency-a-re-examination-of-arguments-and-assumptions-from-autism-spectrum-disorder
#3
Paul E Engelhardt, Oliver Alfridijanta, Mhairi E G McMullon, Martin Corley
We re-evaluate conclusions about disfluency production in high-functioning forms of autism spectrum disorder (HFA). Previous studies examined individuals with HFA to address a theoretical question regarding speaker- and listener-oriented disfluencies. Individuals with HFA tend to be self-centric and have poor pragmatic language skills, and should be less likely to produce listener-oriented disfluency. However, previous studies did not account for individual differences variables that affect disfluency. We show that both matched and unmatched controls produce fewer repairs than individuals with HFA...
June 20, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28633299/structural-covariance-networks-in-children-with-autism-or-adhd
#4
R A I Bethlehem, R Romero-Garcia, E Mak, E T Bullmore, S Baron-Cohen
Background: While autism and attention-deficit/hyperactivity disorder (ADHD) are considered distinct conditions from a diagnostic perspective, clinically they share some phenotypic features and have high comorbidity. Regardless, most studies have focused on only one condition, with considerable heterogeneity in their results. Taking a dual-condition approach might help elucidate shared and distinct neural characteristics. Method: Graph theory was used to analyse topological properties of structural covariance networks across both conditions and relative to a neurotypical (NT; n = 87) group using data from the ABIDE (autism; n = 62) and ADHD-200 datasets (ADHD; n = 69)...
June 13, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28632303/audition-specific-temporal-processing-deficits-associated-with-language-function-in-children-with-autism-spectrum-disorder
#5
Jennifer H Foss-Feig, Kimberly B Schauder, Alexandra P Key, Mark T Wallace, Wendy L Stone
Sensory processing alterations are highly prevalent in autism spectrum disorder (ASD). Neurobiologically-based theories of ASD propose that abnormalities in the processing of temporal aspects of sensory input could underlie core symptoms of ASD. For example, rapid auditory temporal processing is critical for speech perception, and language difficulties are central to the social communication deficits defining the disorder. This study assessed visual and auditory temporal processing abilities and tested their relation to core ASD symptoms...
June 20, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28624964/relations-between-executive-functions-social-impairment-and-friendship-quality-on-adjustment-among-high-functioning-youth-with-autism-spectrum-disorder
#6
Rebecca W Lieb, Amy M Bohnert
High functioning adolescents with Autism Spectrum Disorder (ASD) often have adjustment difficulties, specifically loneliness and depression. To better understand contributing factors, the current study evaluated associations between several Executive Function (EF) domains, social impairment, and friendship quality on depressive symptoms and loneliness in this population. Participants included 127 high functioning ASD adolescents and a parent/caregiver. Results indicated significant levels of parent-reported EF impairment which were positively correlated with increased levels of loneliness and depressive symptoms...
June 17, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28624962/the-scope-and-nature-of-reading-comprehension-impairments-in-school-aged-children-with-higher-functioning-autism-spectrum-disorder
#7
Nancy S McIntyre, Emily J Solari, Joseph E Gonzales, Marjorie Solomon, Lindsay E Lerro, Stephanie Novotny, Tasha M Oswald, Peter C Mundy
This study of 8-16-year-olds was designed to test the hypothesis that reading comprehension impairments are part of the social communication phenotype for many higher-functioning students with autism spectrum disorder (HFASD). Students with HFASD (n = 81) were compared to those with high attention-deficit/hyperactivity disorder symptomatology (ADHD; n = 39), or typical development (TD; n = 44), on a comprehensive battery of oral language, word recognition, and reading comprehension measures. Results indicated that students with HFASD performed significantly lower on the majority of the reading and language tasks as compared to TD and ADHD groups...
June 17, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28623183/phone-based-interventions-in-adolescent-psychiatry-a-perspective-and-proof-of-concept-pilot-study-with-a-focus-on-depression-and-autism
#8
Robert Yuzen Chen, Jordan Robert Feltes, William Shun Tzeng, Zoe Yunzhu Lu, Michael Pan, Nan Zhao, Rebecca Talkin, Kavon Javaherian, Anne Glowinski, Will Ross
BACKGROUND: Telemedicine has emerged as an innovative platform to diagnose and treat psychiatric disorders in a cost-effective fashion. Previous studies have laid the functional framework for monitoring and treating child psychiatric disorders electronically using videoconferencing, mobile phones (smartphones), and Web-based apps. However, phone call and text message (short message service, SMS) interventions in adolescent psychiatry are less studied than other electronic platforms. Further investigations on the development of these interventions are needed...
June 16, 2017: JMIR Research Protocols
https://www.readbyqxmd.com/read/28622159/weeding-out-the-justification-for-marijuana-treatment-in-patients-with-developmental-and-behavioral-conditions
#9
Theodora Nelson, Yi Hui Liu, Kara S Bagot, Martin T Stein
Alex is a 13-year-old adolescent with high-functioning autism spectrum disorder, attention-deficit/hyperactivity disorder (ADHD)-combined type, anxiety, and depression. He has been resistant to engaging in therapy and treatment with various medications has been unsuccessful. Alex's parents are concerned about his anxiety, isolation, oppositional behaviors, academic underachievement, truancy, and substance use. A recent altercation with his stepfather led to a police intervention and a brief removal of Alex from the home...
June 15, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28619530/neural-networks-underlying-language-and-social-cognition-during-self-other-processing-in-autism-spectrum-disorders
#10
Rajesh K Kana, Emma B Sartin, Carl Stevens, Hrishikesh D Deshpande, Christopher Klein, Mark R Klinger, Laura Grofer Klinger
The social communication impairments defining autism spectrum disorders (ASD) may be built upon core deficits in perspective-taking, language processing, and self-other representation. Self-referential processing entails the ability to incorporate self-awareness, self-judgment, and self-memory in information processing. Very few studies have examined the neural bases of integrating self-other representation and semantic processing in individuals with ASD. The main objective of this functional MRI study is to examine the role of language and social brain networks in self-other processing in young adults with ASD...
June 12, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/28616126/autistic-traits-affect-interpersonal-motor-coordination-by-modulating-strategic-use-of-role-based-behavior
#11
Arianna Curioni, Ilaria Minio-Paluello, Lucia Maria Sacheli, Matteo Candidi, Salvatore Maria Aglioti
BACKGROUND: Despite the fact that deficits in social communication and interaction are at the core of Autism Spectrum Conditions (ASC), no study has yet tested individuals on a continuum from neurotypical development to autism in an on-line, cooperative, joint action task. In our study, we aimed to assess whether the degree of autistic traits affects participants' ability to modulate their motor behavior while interacting in a Joint Grasping task and according to their given role. METHODS: Sixteen pairs of adult participants played a cooperative social interactive game in which they had to synchronize their reach-to-grasp movements...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28608419/empathic-responding-in-preschool-aged-children-with-familial-risk-for-autism
#12
Nicole M McDonald, Haley G Murphy, Daniel S Messinger
Individuals with autism spectrum disorder (ASD) show deficits in social and emotional reciprocity, which often include empathic responding. The younger siblings of children with ASD (high-risk siblings) are at elevated risk for ASD and for subclinical deficits in social-emotional functioning. Higher levels of empathy in high-risk siblings during the second and third years of life predict fewer ASD symptoms and likelihood of diagnosis. We conducted a multi-method investigation of empathic responding to an examiner's accident in 30 low-risk and 48 high-risk siblings with (n = 12) and without ASD outcomes (n = 36) at 4-6 years of age...
June 12, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28608397/reward-learning-modulates-the-attentional-processing-of-faces-in-children-with-and-without-autism-spectrum-disorder
#13
Tianbi Li, Xueqin Wang, Junhao Pan, Shuyuan Feng, Mengyuan Gong, Yaxue Wu, Guoxiang Li, Sheng Li, Li Yi
The processing of social stimuli, such as human faces, is impaired in individuals with autism spectrum disorder (ASD), which could be accounted for by their lack of social motivation. The current study examined how the attentional processing of faces in children with ASD could be modulated by the learning of face-reward associations. Sixteen high-functioning children with ASD and 20 age- and ability-matched typically developing peers participated in the experiments. All children started with a reward learning task, in which the children were presented with three female faces that were attributed with positive, negative, and neutral values, and were required to remember the faces and their associated values...
June 12, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28607094/pharmacology-of-the-nav1-1-domain-iv-voltage-sensor-reveals-coupling-between-inactivation-gating-processes
#14
Jeremiah D Osteen, Kevin Sampson, Vivek Iyer, David Julius, Frank Bosmans
The Nav1.1 voltage-gated sodium channel is a critical contributor to excitability in the brain, where pathological loss of function leads to such disorders as epilepsy, Alzheimer's disease, and autism. This voltage-gated sodium (Nav) channel subtype also plays an important role in mechanical pain signaling by primary afferent somatosensory neurons. Therefore, pharmacologic modulation of Nav1.1 represents a potential strategy for treating excitability disorders of the brain and periphery. Inactivation is a complex aspect of Nav channel gating and consists of fast and slow components, each of which may involve a contribution from one or more voltage-sensing domains...
June 12, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28603665/putative-brain-networks-underlying-repetitive-negative-thinking-and-comorbid-internalizing-problems-in-autism
#15
Catherine A Burrows, Kiara R Timpano, Lucina Q Uddin
Many high-functioning individuals with autism spectrum disorder (ASD) also experience depression and anxiety, yet little is known about mechanisms underlying this comorbidity. Repetitive negative thinking (RNT) about self-referential information is a transdiagnostic cognitive vulnerability factor that may account for the relationship between these two classes of symptoms. We propose a model where self-referential processing and cognitive inflexibility interact to increase risk for RNT, leading to internalizing problems in ASD...
May 2017: Clinical Psychological Science
https://www.readbyqxmd.com/read/28600558/look-me-in-the-eyes-constraining-gaze-in-the-eye-region-provokes-abnormally-high-subcortical-activation-in-autism
#16
Nouchine Hadjikhani, Jakob Åsberg Johnels, Nicole R Zürcher, Amandine Lassalle, Quentin Guillon, Loyse Hippolyte, Eva Billstedt, Noreen Ward, Eric Lemonnier, Christopher Gillberg
Individuals with Autism Spectrum Disorder (ASD) seem to have difficulties looking others in the eyes, but the substrate for this behavior is not well understood. The subcortical pathway, which consists of superior colliculus, pulvinar nucleus of the thalamus, and amygdala, enables rapid and automatic face processing. A specific component of this pathway - i.e., the amygdala - has been shown to be abnormally activated in paradigms where individuals had to specifically attend to the eye-region; however, a direct examination of the effect of manipulating the gaze to the eye-regions on all the components of the subcortical system altogether has never been performed...
June 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28597185/neural-correlates-of-sensory-hyporesponsiveness-in-toddlers-at-high-risk-for-autism-spectrum-disorder
#17
David M Simon, Cara R Damiano, Tiffany G Woynaroski, Lisa V Ibañez, Michael Murias, Wendy L Stone, Mark T Wallace, Carissa J Cascio
Altered patterns of sensory responsiveness are a frequently reported feature of Autism Spectrum Disorder (ASD). Younger siblings of individuals with ASD are at a greatly elevated risk of a future diagnosis of ASD, but little is known about the neural basis of sensory responsiveness patterns in this population. Younger siblings (n = 20) of children diagnosed with ASD participated in resting electroencephalography (EEG) at an age of 18 months. Data on toddlers' sensory responsiveness were obtained using the Sensory Experiences Questionnaire...
June 8, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28592562/functional-neuroimaging-of-high-risk-6-month-old-infants-predicts-a-diagnosis-of-autism-at-24-months-of-age
#18
Robert W Emerson, Chloe Adams, Tomoyuki Nishino, Heather Cody Hazlett, Jason J Wolff, Lonnie Zwaigenbaum, John N Constantino, Mark D Shen, Meghan R Swanson, Jed T Elison, Sridhar Kandala, Annette M Estes, Kelly N Botteron, Louis Collins, Stephen R Dager, Alan C Evans, Guido Gerig, Hongbin Gu, Robert C McKinstry, Sarah Paterson, Robert T Schultz, Martin Styner, Bradley L Schlaggar, John R Pruett, Joseph Piven
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social deficits and repetitive behaviors that typically emerge by 24 months of age. To develop effective early interventions that can potentially ameliorate the defining deficits of ASD and improve long-term outcomes, early detection is essential. Using prospective neuroimaging of 59 6-month-old infants with a high familial risk for ASD, we show that functional connectivity magnetic resonance imaging correctly identified which individual children would receive a research clinical best-estimate diagnosis of ASD at 24 months of age...
June 7, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/28578590/the-impact-of-prior-activity-history-on-the-influence-of-restricted-repetitive-behaviors-on-socialization-for-children-with-high-functioning-autism
#19
Robert L Koegel, Kelsey Oliver, Lynn K Koegel
Research has demonstrated that incorporating restricted interests of an individual with autism into recess activities is effective at increasing socialization with typically developing peers. However, certain activity contexts may alter the reinforcing influence of the restricted repetitive behaviors (RRBs) depending on an individual's history in that activity. Using an alternating treatment design, this study examined whether an individual's history with an activity affected socialization. RRBs were embedded into activities with a reported positive history (i...
June 1, 2017: Behavior Modification
https://www.readbyqxmd.com/read/28578469/brief-report-is-impaired-classification-of-subtle-facial-expressions-in-children-with-autism-spectrum-disorders-related-to-atypical-emotion-category-boundaries
#20
Lydia R Whitaker, Andrew Simpson, Debi Roberson
Impairments in recognizing subtle facial expressions, in individuals with autism spectrum disorder (ASD), may relate to difficulties in constructing prototypes of these expressions. Eighteen children with predominantly intellectual low-functioning ASD (LFA, IQ <80) and two control groups (mental and chronological age matched), were assessed for their ability to classify emotional faces, of high, medium and low intensities, as happy or angry. For anger, the LFA group made more errors for lower intensity expressions than the control groups, classifications did not differ for happiness...
June 3, 2017: Journal of Autism and Developmental Disorders
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