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https://www.readbyqxmd.com/read/29676529/implicit-learning-seems-to-come-naturally-for-children-with-autism-but-not-for-children-with-specific-language-impairment-evidence-from-behavioral-and-erp-data
#1
Fenny S Zwart, Constance Th W M Vissers, Roy P C Kessels, Joseph H R Maes
Autism spectrum disorder (ASD) and specific language impairment (SLI) are two neurodevelopmental disorders characterized by deficits in verbal and nonverbal communication skills. These skills are thought to develop largely through implicit-or automatic-learning mechanisms. The aim of the current paper was to investigate the role of implicit learning abilities in the atypical development of communication skills in ASD and SLI. In the current study, we investigated Response Times (RTs) and Event Related Potentials (ERPs) during implicit learning on a Serial Reaction Time (SRT) task in a group of typically developing (TD) children (n = 17), a group of autistic children (n = 16), and a group of children with SLI (n = 13)...
April 20, 2018: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29675767/high-risk-for-severe-emotional-dysregulation-in-psychiatrically-referred-youth-with-autism-spectrum-disorder-a-controlled-study
#2
Gagan Joshi, Janet Wozniak, Maura Fitzgerald, Stephen Faraone, Ronna Fried, Maribel Galdo, Stephannie L Furtak, Kristina Conroy, J Ryan Kilcullen, Abigail Belser, Joseph Biederman
To assess prevalence and severity of emotional dysregulation (ED) in psychiatrically referred youth with autism spectrum disorder (ASD). ASD youth (N = 123) were compared to youth with attention-deficit/hyperactivity disorder (ADHD) and controls. The majority of psychiatrically referred youth with ASD had positive Child Behavior Checklist-ED (CBCL-ED) profile that was significantly higher than in youth with ADHD (82 vs. 53%; p < 0.001). The severe emotional dysregulation (SED) profile was significantly greater in ASD youth than ADHD (44 vs...
April 19, 2018: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29675766/the-relationship-between-sensorimotor-and-handwriting-performance-in-chinese-adolescents-with-autism-spectrum-disorder
#3
Cecilia W P Li-Tsang, Tim M H Li, Choco H Y Ho, Mandy S W Lau, Howard W H Leung
Impaired sensorimotor control, as a common feature of autism spectrum disorder (ASD), could be a driving factor to handwriting problems. This study examined the Chinese and English handwriting and sensorimotor skills of 15 ASD and 174 typically developing Chinese adolescents. Participants with ASD had lower writing speed and poor manual dexterity (MD) than the typically developing participants. MD was a significant mediator between ASD and handwriting speed. Ground time and airtime represent the length of time when the pen touches the paper and is held in air, respectively...
April 19, 2018: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29674953/salm-lrfn-family-synaptic-adhesion-molecules
#4
REVIEW
Eunkyung Lie, Yan Li, Ryunhee Kim, Eunjoon Kim
Synaptic adhesion-like molecules (SALMs) are a family of cell adhesion molecules involved in regulating neuronal and synapse development that have also been implicated in diverse brain dysfunctions, including autism spectrum disorders (ASDs). SALMs, also known as leucine-rich repeat (LRR) and fibronectin III domain-containing (LRFN) proteins, were originally identified as a group of novel adhesion-like molecules that contain LRRs in the extracellular region as well as a PDZ domain-binding tail that couples to PSD-95, an abundant excitatory postsynaptic scaffolding protein...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29674594/paternally-inherited-cis-regulatory-structural-variants-are-associated-with-autism
#5
William M Brandler, Danny Antaki, Madhusudan Gujral, Morgan L Kleiber, Joe Whitney, Michelle S Maile, Oanh Hong, Timothy R Chapman, Shirley Tan, Prateek Tandon, Timothy Pang, Shih C Tang, Keith K Vaux, Yan Yang, Eoghan Harrington, Sissel Juul, Daniel J Turner, Bhooma Thiruvahindrapuram, Gaganjot Kaur, Zhuozhi Wang, Stephen F Kingsmore, Joseph G Gleeson, Denis Bisson, Boyko Kakaradov, Amalio Telenti, J Craig Venter, Roser Corominas, Claudio Toma, Bru Cormand, Isabel Rueda, Silvina Guijarro, Karen S Messer, Caroline M Nievergelt, Maria J Arranz, Eric Courchesne, Karen Pierce, Alysson R Muotri, Lilia M Iakoucheva, Amaia Hervas, Stephen W Scherer, Christina Corsello, Jonathan Sebat
The genetic basis of autism spectrum disorder (ASD) is known to consist of contributions from de novo mutations in variant-intolerant genes. We hypothesize that rare inherited structural variants in cis-regulatory elements (CRE-SVs) of these genes also contribute to ASD. We investigated this by assessing the evidence for natural selection and transmission distortion of CRE-SVs in whole genomes of 9274 subjects from 2600 families affected by ASD. In a discovery cohort of 829 families, structural variants were depleted within promoters and untranslated regions, and paternally inherited CRE-SVs were preferentially transmitted to affected offspring and not to their unaffected siblings...
April 20, 2018: Science
https://www.readbyqxmd.com/read/29673513/long-term-outcomes-after-percutaneous-closure-of-ostium-secundum-atrial-septal-defect-in-the-young-a-nationwide-cohort-study
#6
Zakaria Jalal, Sébastien Hascoët, Céline Gronier, François Godart, Lucia Mauri, Claire Dauphin, Bruno Lefort, Matthias Lachaud, Dominique Piot, Marie-Lou Dinet, Yael Levy, Alain Fraisse, Caroline Ovaert, Xavier Pillois, Jean-René Lusson, Jérôme Petit, Alban-Elouen Baruteau, Jean-Benoit Thambo
OBJECTIVES: This study sought to assess procedural characteristics, early clinical outcome, and long-term complications after transcatheter closure of atrial septal defect (ASD) in children. BACKGROUND: Transcatheter closure has become the preferred strategy in most cases of isolated secundum ASD. However, reported experience in the pediatric population is limited. METHODS: A 1998 to 2016 retrospective multicenter study was performed in 9 French tertiary institutions...
April 23, 2018: JACC. Cardiovascular Interventions
https://www.readbyqxmd.com/read/29672015/zebrafish-based-discovery-of-antiseizure-compounds-from-the-red-sea-pseurotin-a-2-and-azaspirofuran-a
#7
Daniëlle Copmans, Mostafa Rateb, Jioji N Tabudravu, Mercedes Pérez-Bonilla, Nina Dirkx, Riccardo Vallorani, Caridad Diaz, José Pérez Del Palacio, Alan J Smith, Rainer Ebel, Fernando Reyes, Marcel Jaspars, Peter A M de Witte
In search for novel antiseizure drugs (ASDs), the European FP7-funded PharmaSea project used zebrafish embryos and larvae as a drug discovery platform to screen marine natural products to identify promising antiseizure hits in vivo for further development. Within the framework of this project, seven known heterospirocyclic γ-lactams, namely, pseurotin A, pseurotin A2 , pseurotin F1, 11- O-methylpseurotin A, pseurotin D, azaspirofuran A, and azaspirofuran B, were isolated from the bioactive marine fungus Aspergillus fumigatus, and their antiseizure activity was evaluated in the larval zebrafish pentylenetetrazole (PTZ) seizure model...
April 19, 2018: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/29671924/effects-of-syn1-q555x-mutation-on-cortical-gray-matter-microstructure
#8
Jean-François Cabana, Guillaume Gilbert, Laurent Létourneau-Guillon, Dima Safi, Isabelle Rouleau, Patrick Cossette, Dang Khoa Nguyen
A new Q555X mutation on the SYN1 gene was recently found in several members of a family segregating dyslexia, epilepsy, and autism spectrum disorder. To describe the effects of this mutation on cortical gray matter microstructure, we performed a surface-based group study using novel diffusion and quantitative multiparametric imaging on 13 SYN1Q555X mutation carriers and 13 age- and sex-matched controls. Specifically, diffusion kurtosis imaging (DKI) and neurite orientation and dispersion and density imaging (NODDI) were used to analyze multi-shell diffusion data and obtain parametric maps sensitive to tissue structure, while quantitative metrics sensitive to tissue composition (T1, T2* and relative proton density [PD]) were obtained from a multi-echo variable flip angle FLASH acquisition...
April 19, 2018: Human Brain Mapping
https://www.readbyqxmd.com/read/29671106/autism-spectrum-symptomatology-in-children-with-williams-syndrome-who-have-phrase-speech-or-fluent-language
#9
Bonita P Klein-Tasman, Faye van der Fluit, Carolyn B Mervis
To characterize autism spectrum-related symptomatology in children with Williams syndrome (WS) with phrase speech or fluent language, the Autism Diagnostic Observation Schedule Module 2 or 3 was administered. The cutoff for autism spectrum was met by 35% (14/40) who completed Module 2 and 30% (18/60) who completed Module 3. Similarities and differences in socio-communicative strengths and weaknesses as a function of language ability were identified. Symptom severity was negatively associated with IQ for participants with phrase speech but not for those with fluent language...
April 18, 2018: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29670550/asd-is-not-dli-individuals-with-autism-and-individuals-with-syntactic-dli-show-similar-performance-level-in-syntactic-tasks-but-different-error-patterns
#10
Nufar Sukenik, Naama Friedmann
Do individuals with autism have a developmental syntactic impairment, DLI (formerly known as SLI)? In this study we directly compared the performance of 18 individuals with Autism Spectrum Disorder (ASD) aged 9;0-18;0 years with that of 93 individuals with Syntactic-Developmental Language Impairment (SyDLI) aged 8;8-14;6 (and with 166 typically-developing children aged 5;2-18;1). We tested them using three syntactic tests assessing the comprehension and production of syntactic structures that are known to be sensitive to syntactic impairment: elicitation of subject and object relative clauses, reading and paraphrasing of object relatives, and repetition of complex syntactic structures including Wh questions, relative clauses, topicalized sentences, sentences with verb movement, sentences with A-movement, and embedded sentences...
2018: Frontiers in Psychology
https://www.readbyqxmd.com/read/29669692/identification-of-lbx2-as-a-novel-causal-gene-of-atrial-septal-defect
#11
Jing Wang, Jing Luo, Qiuhong Chen, Xi Wang, Jiangyan He, Wei Zhang, Zhan Yin, Fang Zheng, Hong Pan, Tengyan Li, Qiyong Lou, Binbin Wang
BACKGROUND: Atrial septal defect (ASD) is one of the most common cardiac malformations worldwide. Several genes have been identified so far, which can merely explain small proportion of all the cases, therefore, it is anticipated that there are additional genes causing ASD. The aims of this study were to identify the causal gene of ostium secundum atrial septal defect (ASDII) in a Chinese family. METHODS: Whole exome sequencing was performed in three affected members and one control in the ASDII family...
April 11, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/29669486/diet-the-keystone-of-autism-spectrum-disorder
#12
S Peretti, M Mariano, C Mazzocchetti, M Mazza, M C Pino, A Verrotti Di Pianella, M Valenti
Children with autism are characterized by an impairment of social interaction and repetitive patterns of behaviour. Autism is a heterogeneous span of disorders with unknown aetiology. Research has grown significantly and has suggested that environmental risk factors acting during the prenatal period could influence the neurodevelopment of offspring. The literature suggests that the maternal diet during pregnancy has a fundamental role in the etiopathogenesis of autism. Indeed, a maternal diet that is high in some nutrients has been associated with an increase or reduction in the risk of develop Autism Spectrum Disorders (ASD)...
April 19, 2018: Nutritional Neuroscience
https://www.readbyqxmd.com/read/29668850/altered-neocortical-gene-expression-brain-overgrowth-and-functional-over-connectivity-in-chd8-haploinsufficient-mice
#13
Philipp Suetterlin, Shaun Hurley, Conor Mohan, Kimberley L H Riegman, Marco Pagani, Angela Caruso, Jacob Ellegood, Alberto Galbusera, Ivan Crespo-Enriquez, Caterina Michetti, Yohan Yee, Robert Ellingford, Olivier Brock, Alessio Delogu, Philippa Francis-West, Jason P Lerch, Maria Luisa Scattoni, Alessandro Gozzi, Cathy Fernandes, M Albert Basson
Truncating CHD8 mutations are amongst the highest confidence risk factors for autism spectrum disorder (ASD) identified to date. Here, we report that Chd8 heterozygous mice display increased brain size, motor delay, hypertelorism, pronounced hypoactivity, and anomalous responses to social stimuli. Whereas gene expression in the neocortex is only mildly affected at midgestation, over 600 genes are differentially expressed in the early postnatal neocortex. Genes involved in cell adhesion and axon guidance are particularly prominent amongst the downregulated transcripts...
April 13, 2018: Cerebral Cortex
https://www.readbyqxmd.com/read/29667272/different-brain-networks-underlying-intelligence-in-autism-spectrum-disorders
#14
Emmanuel Peng Kiat Pua, Charles B Malpas, Stephen C Bowden, Marc L Seal
There has been sustained clinical and cognitive neuroscience research interest in how network correlates of brain-behavior relationships might be altered in Autism Spectrum Disorders (ASD) and other neurodevelopmental disorders. As previous work has mostly focused on adults, the nature of whole-brain connectivity networks underlying intelligence in pediatric cohorts with abnormal neurodevelopment requires further investigation. We used network-based statistics (NBS) to examine the association between resting-state functional Magnetic Resonance Imaging (fMRI) connectivity and fluid intelligence ability in male children (n = 50) with Autism Spectrum Disorders (ASD; M = 10...
April 17, 2018: Human Brain Mapping
https://www.readbyqxmd.com/read/29666940/asd-closure-in-structural-heart-disease
#15
REVIEW
Dominik M Wiktor, John D Carroll
PURPOSE OF REVIEW: While the safety and efficacy of percutaneous ASD closure has been established, new data have recently emerged regarding the negative impact of residual iatrogenic ASD (iASD) following left heart structural interventions. Additionally, new devices with potential advantages have recently been studied. We will review here the potential indications for closure of iASD along with new generation closure devices and potential late complications requiring long-term follow-up...
April 17, 2018: Current Cardiology Reports
https://www.readbyqxmd.com/read/29664852/lower-extremity-motor-function-following-complex-adult-spinal-deformity-surgery-two-year-follow-up-in-the-scoli-risk-1-prospective-multicenter-international-study
#16
Lawrence G Lenke, Christopher I Shaffrey, Leah Y Carreon, Kenneth M C Cheung, Benny T Dahl, Michael G Fehlings, Christopher P Ames, Oheneba Boachie-Adjei, Mark B Dekutoski, Khaled M Kebaish, Stephen J Lewis, Yukihiro Matsuyama, Hossein Mehdian, Ferran Pellisé, Yong Qiu, Frank J Schwab
BACKGROUND: The reported neurologic complication rate following surgery for complex adult spinal deformity (ASD) is variable due to several factors. Most series have been retrospective with heterogeneous patient populations and use of nonuniform neurologic assessments. The aim of this study was to prospectively document lower extremity motor function by means of the American Spinal Injury Association (ASIA) lower extremity motor score (LEMS) before and through 2 years after surgical correction of complex ASD...
April 18, 2018: Journal of Bone and Joint Surgery. American Volume
https://www.readbyqxmd.com/read/29664817/postoperative-status-of-global-sagittal-alignment-with-compensation-in-adult-spinal-deformity
#17
Satoshi Inami, Hiroshi Moridaira, Daisaku Takeuchi, Haruki Ueda, Yo Shiba, Futoshi Asano, Hiromichi Aoki, Hiroshi Taneichi
STUDY DESIGN: Retrospective study of consecutive patients undergoing surgery for adult spinal deformity (ASD). OBJECTIVE: The aim of this study was to classify postoperative ASD patients by sagittal compensation and characterize the features of each group. SUMMARY OF BACKGROUND DATA: Sagittal compensatory mechanisms to keep the erect position would function in not only non-operative ASD patients, but also in postoperative patients. However, details of sagittal compensatory mechanisms after surgery have been unclear, because the majority of previous studies examined the compensatory mechanisms in non-operative patients METHODS...
April 16, 2018: Spine
https://www.readbyqxmd.com/read/29664768/determinants-of-parent-satisfaction-with-emergency-or-urgent-care-when-the-patient-has-autism
#18
Sarah F Kirsch, David L Meryash, Bárbara González-Arévalo
OBJECTIVE: The purpose of this study was to identify factors that predict parent satisfaction (PS) with their child with autism spectrum disorder (ASD)'s visit to a hospital emergency department (ED) or urgent care (UC) center. METHODS: Parents recruited through a national database whose child (3-21 years; N = 378) with ASD had been treated in an ED/UC center within the previous 3 years completed an anonymous on-line questionnaire. They answered questions about whether they were satisfied overall with the visit and the care provided, their demographics, patient characteristics, their expectations and preparation for the visit, and the ED/UC center experience itself, including their observations of staff interpersonal and communication skills (ICSs) and behaviors, and whether the patient was disruptive (D)...
April 16, 2018: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/29664500/nutritional-recovery-after-cardiac-surgery-in-children-with-congenital-heart-disease
#19
I Oyarzún, C Claveria, G Larios, C Le Roy
INTRODUCTION: Malnutrition is common in children with congenital heart disease (CHD). Medical treatment and surgical interventions contribute improving the nutritional status of these children. OBJECTIVE: To describe nutritional recovery in children with CHD and associated factors after surgery. PATIENTS AND METHOD: Longitudinal study. 46 Children under 18 years old admitted for CHD surgery between April 2015 and April 2016 were recruited...
February 2018: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/29663862/dynamics-and-structural-stability-effects-of-germline-pten-mutations-associated-with-cancer-versus-autism-phenotypes
#20
Iris Nira Smith, Stetson Thacker, Ritika Jaini, Charis Eng
Individuals with germline mutations in the tumor suppressor gene phosphatase and tensin homolog (PTEN), irrespective of clinical presentation, are diagnosed with PTEN hamartoma tumor syndrome (PHTS). PHTS confers a high risk of breast, thyroid, and other cancers or autism spectrum disorder (ASD) with macrocephaly. It remains unclear why mutations in one gene can lead to seemingly disparate phenotypes. Thus, we sought to identify differences in ASD vs. cancer-associated germline PTEN missense mutations by investigating putative structural effects induced by each mutation...
April 17, 2018: Journal of Biomolecular Structure & Dynamics
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