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https://www.readbyqxmd.com/read/28422642/detection-and-treatment-of-autism-spectrum-disorder-by-occupational-therapy-practitioners-addressing-racial-disparity-in-diagnosis
#1
Varleisha D Gibbs
As the prevalence of autism spectrum disorder (ASD) continues to rise, racial disparities remain in age of diagnosis and initiation of treatment. Therefore, occupational therapy practitioners should examine cultural perceptions related to disparities in ASD diagnosis. This article investigates the role that practitioners may play in this disparity by asking, "Are occupational therapy practitioners contributing to the late diagnosis of children with ASD who are members of particular racial or ethnic groups?" Correlations among practitioners' detection of symptoms, parents' perceptions, and evaluator influences are investigated...
May 2017: American Journal of Occupational Therapy: Official Publication of the American Occupational Therapy Association
https://www.readbyqxmd.com/read/28419775/next-generation-sequencing-mitochondrial-dna-analysis-in-autism-spectrum-disorder
#2
Ashok Patowary, Ryan Nesbitt, Marilyn Archer, Raphael Bernier, Zoran Brkanac
Autism is a complex genetic disorder where both de-novo and inherited genetics factors play a role. Next generation sequencing approaches have been extensively used to identify rare variants associated with autism. To date, all such studies were focused on nuclear genome; thereby leaving the role of mitochondrial DNA (mtDNA) variation in autism unexplored. Recently, analytical tools have been developed to evaluate mtDNA in whole-exome data. We have analyzed the mtDNA sequence derived from whole-exome sequencing in 10 multiplex families...
April 17, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28417440/developmental-neurotoxicity-of-traffic-related-air-pollution-focus-on-autism
#3
REVIEW
Lucio G Costa, Yu-Chi Chang, Toby B Cole
PURPOSE OF REVIEW: Epidemiological and animal studies suggest that air pollution may negatively affect the central nervous system (CNS) and contribute to CNS diseases. Traffic-related air pollution is a major contributor to global air pollution, and diesel exhaust (DE) is its most important component. RECENT FINDINGS: Several studies suggest that young individuals may be particularly susceptible to air pollution-induced neurotoxicity and that perinatal exposure may cause or contribute to developmental disabilities and behavioral abnormalities...
April 17, 2017: Current Environmental Health Reports
https://www.readbyqxmd.com/read/28414301/striatopallidal-dysfunction-underlies-repetitive-behavior-in-shank3-deficient-model-of-autism
#4
Wenting Wang, Chenchen Li, Qian Chen, Marie-Sophie van der Goes, James Hawrot, Annie Y Yao, Xian Gao, Congyi Lu, Ying Zang, Qiangge Zhang, Katherine Lyman, Dongqing Wang, Baolin Guo, Shengxi Wu, Charles R Gerfen, Zhanyan Fu, Guoping Feng
The postsynaptic scaffolding protein SH3 and multiple ankyrin repeat domains 3 (SHANK3) is critical for the development and function of glutamatergic synapses. Disruption of the SHANK3-encoding gene has been strongly implicated as a monogenic cause of autism, and Shank3 mutant mice show repetitive grooming and social interaction deficits. Although basal ganglia dysfunction has been proposed to underlie repetitive behaviors, few studies have provided direct evidence to support this notion and the exact cellular mechanisms remain largely unknown...
April 17, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28407358/vitamin-d-related-genes-are-subjected-to-significant-de-novo-mutation-burdens-in-autism-spectrum-disorder
#5
Jinchen Li, Lin Wang, Ping Yu, Leisheng Shi, Kun Zhang, Zhong Sheng Sun, Kun Xia
Vitamin D deficiency is a putative environmental risk factor for autism spectrum disorder (ASD). Besides, de novo mutations (DNMs) play essential roles in ASD. However, it remains unclear whether vitamin D-related genes (VDRGs) carry a strong DNM burden. For the 943 reported VDRGs, we analyzed publicly-available DNMs from 4,327 ASD probands and 3,191 controls. We identified 126 and 44 loss-of-function or deleterious missense mutations in the probands and the controls, respectively, representing a significantly higher DNM burden (p = 1...
April 13, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28406773/cluster-of-differentiation-5-cd5-levels-in-the-plasma-of-children-with-autism-spectrum-disorder-asd
#6
Dost Muhammad Halepoto, Abdulrahman Mohammed Alhowikan, Laila Al- Ayadhi
OBJECTIVE: To investigate the cluster of differentiation 5 (CD5) plasma levels and their association with childhood autism rating scale (CARS) in subjects with autism spectrum disorder (ASD) compared to age and gender matched healthy controls, and to explore the link between CD5, severity, and autoimmunity in autism. STUDY DESIGN: Case-control study. PLACE AND DURATION OF STUDY: Autism Research and Treatment Center, Al-Amodi Autism Research Chair, Department of Physiology, Faculty of Medicine, King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia, from October 2014 to May 2015...
March 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28394464/novel-mca-id-syndrome-with-ash1l-mutation
#7
Nobuhiko Okamoto, Fuyuki Miya, Tatsuhiko Tsunoda, Mitsuhiro Kato, Shinji Saitoh, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki
We identified a novel mutation in ASH1L in a patient with severe intellectual disability, growth failure, microcephaly, facial dysmorphism, myelination delay, and skeletal abnormalities. ASH1L is a histone methyltransferase that associates with the transcribed region of all active genes examined, including Hox genes. It catalyzes H3K36 methylation and plays important roles in development. There has been increasing evidence that heterozygous mutation of ASH1L is associated with ID and autism spectrum disorders...
April 10, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28392909/neurogenetic-analysis-of-childhood-disintegrative-disorder
#8
Abha R Gupta, Alexander Westphal, Daniel Y J Yang, Catherine A W Sullivan, Jeffrey Eilbott, Samir Zaidi, Avery Voos, Brent C Vander Wyk, Pam Ventola, Zainulabedin Waqar, Thomas V Fernandez, A Gulhan Ercan-Sencicek, Michael F Walker, Murim Choi, Allison Schneider, Tammy Hedderly, Gillian Baird, Hannah Friedman, Cara Cordeaux, Alexandra Ristow, Frederick Shic, Fred R Volkmar, Kevin A Pelphrey
BACKGROUND: Childhood disintegrative disorder (CDD) is a rare form of autism spectrum disorder (ASD) of unknown etiology. It is characterized by late-onset regression leading to significant intellectual disability (ID) and severe autism. Although there are phenotypic differences between CDD and other forms of ASD, it is unclear if there are neurobiological differences. METHODS: We pursued a multidisciplinary study of CDD (n = 17) and three comparison groups: low-functioning ASD (n = 12), high-functioning ASD (n = 50), and typically developing (n = 26) individuals...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28387140/reflections-of-malaysian-parents-of-children-with-developmental-disabilities-on-their-experiences-with-aac
#9
Susheel Joginder Singh, Nur Hazirah Hussein, Rahayu Mustaffa Kamal, Fatimah Hani Hassan
Parents play an important role in the successful implementation of AAC. Previous research has indicated that parents in different countries have varying perceptions about the use of AAC and face different challenges in its implementation. To date, there is limited information about the use of AAC by children in Malaysia or parents' views about its use. The aim of this study was to explore Malaysian parents' perception of AAC and their experience when supporting their children who use AAC. For this study, 12 parents of children with autism spectrum disorder and cerebral palsy were involved in semi-structured individual interviews...
April 7, 2017: Augmentative and Alternative Communication: AAC
https://www.readbyqxmd.com/read/28387067/clinical-and-genetic-aspects-of-the-15q11-2-bp1-bp2-microdeletion-disorder
#10
M G Butler
BACKGROUND: The 15q11.2 BP1-BP2 microdeletion (Burnside-Butler susceptibility locus) is an emerging condition with over 200 individuals reported in the literature. TUBGCP5, CFYIP1, NIPA1 and NIPA2 genes are located in this chromosome 15 region and when disturbed individually are known to cause neurological, cognitive or behavioural problems as well as playing a role in both Prader-Willi and Angelman syndromes. These syndromes were the first examples in humans of genomic imprinting and typically caused by a deletion but involving the distal chromosome 15q11-q13 breakpoint BP3 and proximally placed breakpoints BP1 or BP2 of different parental origin...
April 7, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28386848/identification-of-de-novo-dnmt3a-mutations-that-cause-west-syndrome-by-using-whole-exome-sequencing
#11
Zhenwei Liu, Zhongshan Li, Xiao Zhi, Yaoqiang Du, Zhongdong Lin, Jinyu Wu
Epileptic encephalopathies (EEs) are a group of severe neurodevelopmental disorders with extreme genetic heterogeneity. Recent trio-based whole-exome sequencing (WES) studies have demonstrated that de novo mutations (DNMs) play prominent roles in severe EE. In this study, we searched for potential causal DNMs by using high-coverage WES of four unrelated Chinese parent-offspring trios affected by West syndrome. Through extensive bioinformatic analysis, we identified three novel DNMs in DNMT3A, CDKL5, and MAMDC2 in three trios and two compound heterozygous mutations in KMT2A in one trio...
April 6, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28385052/perinatal-ssri-exposure-permanently-alters-cerebral-serotonin-receptor-mrna-in-mice-but-does-not-impact-adult-behaviors
#12
Lauritz R Meyer, Benjamin Dexter, Cecilia Lo, Elizabeth Kenkel, Takahito Hirai, Robert D Roghair, Sarah E Haskell
PURPOSE: Associations have been made between maternal selective serotonin reuptake inhibitor (SSRI) use during pregnancy and altered behavior in offspring, including an increased risk of autism. Given the important role serotonin plays in behavior, we hypothesized SSRI exposure in the perinatal period would alter central serotonin receptor expression and program adult behaviors in mice. METHODS: Female mice were injected with sertraline or saline throughout pregnancy...
April 6, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28375644/physical-activity-levels-in-children-with-and-without-autism-spectrum-disorder-when-playing-active-and-sedentary-xbox-kinect-videogames
#13
Daphne Golden, Nancy Getchell
OBJECTIVE: We compare physical activity during bouts of sedentary videogaming (SVG), active videogaming (AVG), and paced walking in children with and without autism spectrum disorder (ASD) to determine the effectiveness of AVG in providing moderate-to-vigorous physical activity. MATERIALS AND METHOD: Participants included nine males (8-11 years old) with ASD and eight age-matched males who were typically developing. Both groups had anthropometric and motor proficiency (Movement Assessment Battery for Children II) measures taken before testing...
April 2017: Games for Health
https://www.readbyqxmd.com/read/28372995/targeting-aggression-in-severe-mental-illness-the-predictive-role-of-genetic-epigenetic-and-metabolomic-markers
#14
REVIEW
Mirko Manchia, Vassilios Fanos
Human aggression is a complex and widespread social behavior that is overrepresented in individuals affected by severe mental illness (SMI), such as schizophrenia (SCZ), bipolar disorder (BD), autism spectrum disorder (ASD), and attention-deficit/hyperactivity disorder (ADHD). A substantial proportion of the liability threshold for aggressive behavior is determined by genetic factors, and environmental moderators might precipitate the manifestation of this behavioral phenotype through modification of gene expression via the epigenetic machinery...
April 2, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28371413/auditory-spatial-attention-to-speech-and-complex-non-speech-sounds-in-children-with-autism-spectrum-disorder
#15
Laura N Soskey, Paul D Allen, Loisa Bennetto
One of the earliest observable impairments in autism spectrum disorder (ASD) is a failure to orient to speech and other social stimuli. Auditory spatial attention, a key component of orienting to sounds in the environment, has been shown to be impaired in adults with ASD. Additionally, specific deficits in orienting to social sounds could be related to increased acoustic complexity of speech. We aimed to characterize auditory spatial attention in children with ASD and neurotypical controls, and to determine the effect of auditory stimulus complexity on spatial attention...
April 1, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28370141/increased-transient-na-conductance-and-action-potential-output-in-layer-2-3-prefrontal-cortex-neurons-of-the-fmr1-y-mouse
#16
Brandy N Routh, Rahul K Rathour, Michael E Baumgardner, Brian E Kalmbach, Daniel Johnston, Darrin H Brager
Fragile X syndrome is the most common form of inherited mental impairment and autism. The prefrontal cortex is responsible for higher order cognitive processing, and prefrontal dysfunction is believed to underlie many of the cognitive and behaviour phenotypes associated with Fragile X syndrome. We recently demonstrated that somatic and dendritic excitability of layer 5 pyramidal neurons in the prefrontal cortex of the fmr1-/y mouse is significantly altered due to changes in several voltage-gated ion channels...
March 31, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28369833/evaluation-of-interactive-computerized-training-to-teach-parents-to-implement-photographic-activity-schedules-with-children-with-autism-spectrum-disorder
#17
Kristina R Gerencser, Thomas S Higbee, Jessica S Akers, Bethany P Contreras
Training parents of children with autism spectrum disorder can be a challenge due to limited resources, time, and money. Interactive computerized training (ICT)-a self-paced program that incorporates instructions, videos, and interactive questions-is one method professionals can use to disseminate trainings to broader populations. This study extends previous research on ICT by assessing the effect of ICT to teach three parents how to implement a photographic activity schedule using a systematic prompting procedure with their child...
March 28, 2017: Journal of Applied Behavior Analysis
https://www.readbyqxmd.com/read/28369738/mu-opioid-receptor-social-behaviour-and-autism-spectrum-disorder-reward-matters
#18
REVIEW
Lucie P Pellissier, Jorge Gandia, Thibaut Laboute, Jerome Aj Becker, Julie Le Merrer
The endogenous opioid system is well known to relieve pain and underpin the rewarding properties of most drugs of abuse. Among opioid receptors, the μ opioid receptor (μOR) mediates most of the analgesic and rewarding properties of opioids. Based on striking similarities between social distress, physical pain and opiate withdrawal, μOR has been proposed to play a critical role in modulating social behaviour in humans and animals. This review summarizes experimental data demonstrating such role and proposes a novel model, the μOR Balance Model, to account for μOR contribution to the subtle regulation of social behaviour...
April 3, 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/28367116/microglial-intracellular-ca-2-signaling-in-synaptic-development-and-its-alterations-in-neurodevelopmental-disorders
#19
REVIEW
Yoshito Mizoguchi, Akira Monji
Autism spectrum disorders (ASDs) are neurodevelopmental disorders characterized by deficits in social interaction, difficulties with language and repetitive/restricted behaviors. Microglia are resident innate immune cells which release many factors including proinflammatory cytokines, nitric oxide (NO) and brain-derived neurotrophic factor (BDNF) when they are activated in response to immunological stimuli. Recent in vivo imaging has shown that microglia sculpt and refine the synaptic circuitry by removing excess and unwanted synapses and be involved in the development of neural circuits or synaptic plasticity thereby maintaining the brain homeostasis...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28365419/mindcontrol-a-web-application-for-brain-segmentation-quality-control
#20
REVIEW
Anisha Keshavan, Esha Datta, Ian McDonough, Christopher R Madan, Kesshi Jordan, Roland G Henry
Tissue classification plays a crucial role in the investigation of normal neural development, brain-behavior relationships, and the disease mechanisms of many psychiatric and neurological illnesses. Ensuring the accuracy of tissue classification is important for quality research and, in particular, the translation of imaging biomarkers to clinical practice. Assessment with the human eye is vital to correct various errors inherent to all currently available segmentation algorithms. Manual quality assurance becomes methodologically difficult at a large scale - a problem of increasing importance as the number of data sets is on the rise...
March 29, 2017: NeuroImage
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