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Autism Spectrum Disorder

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https://www.readbyqxmd.com/read/27912058/impaired-amino-acid-transport-at-the-blood-brain-barrier-is-a-cause-of-autism-spectrum-disorder
#1
Dora C Tărlungeanu, Elena Deliu, Christoph P Dotter, Majdi Kara, Philipp Christoph Janiesch, Mariafrancesca Scalise, Michele Galluccio, Mateja Tesulov, Emanuela Morelli, Fatma Mujgan Sonmez, Kaya Bilguvar, Ryuichi Ohgaki, Yoshikatsu Kanai, Anide Johansen, Seham Esharif, Tawfeg Ben-Omran, Meral Topcu, Avner Schlessinger, Cesare Indiveri, Kent E Duncan, Ahmet Okay Caglayan, Murat Gunel, Joseph G Gleeson, Gaia Novarino
Autism spectrum disorders (ASD) are a group of genetic disorders often overlapping with other neurological conditions. We previously described abnormalities in the branched-chain amino acid (BCAA) catabolic pathway as a cause of ASD. Here, we show that the solute carrier transporter 7a5 (SLC7A5), a large neutral amino acid transporter localized at the blood brain barrier (BBB), has an essential role in maintaining normal levels of brain BCAAs. In mice, deletion of Slc7a5 from the endothelial cells of the BBB leads to atypical brain amino acid profile, abnormal mRNA translation, and severe neurological abnormalities...
December 1, 2016: Cell
https://www.readbyqxmd.com/read/27911749/casting-a-wide-net-role-of-perineuronal-nets-in-neural-plasticity
#2
Barbara A Sorg, Sabina Berretta, Jordan M Blacktop, James W Fawcett, Hiroshi Kitagawa, Jessica C F Kwok, Marta Miquel
Perineuronal nets (PNNs) are unique extracellular matrix structures that wrap around certain neurons in the CNS during development and control plasticity in the adult CNS. They appear to contribute to a wide range of diseases/disorders of the brain, are involved in recovery from spinal cord injury, and are altered during aging, learning and memory, and after exposure to drugs of abuse. Here the focus is on how a major component of PNNs, chondroitin sulfate proteoglycans, control plasticity, and on the role of PNNs in memory in normal aging, in a tauopathy model of Alzheimer's disease, and in drug addiction...
November 9, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27911743/synaptic-actin-dysregulation-a-convergent-mechanism-of-mental-disorders
#3
Zhen Yan, Eunjoon Kim, Dibyadeep Datta, David A Lewis, Scott H Soderling
Actin polymerization governs activity-dependent modulation of excitatory synapses, including their morphology and functionality. It is clear from human genetics that neuropsychiatric and neurodevelopmental disturbances are multigenetic in nature, highlighting the need to better understand the critical neural pathways associated with these disorders and how they are altered by genetic risk alleles. One such signaling pathway that is heavily implicated by candidate genes for psychiatric and neurodevelopmental disorders are regulators of signaling to the actin cytoskeleton, suggesting that its disruption and the ensuring abnormalities of spine structures and postsynaptic complexes is a commonly affected pathway in brain disorders...
November 9, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27911742/current-perspectives-in-autism-spectrum-disorder-from-genes-to-therapy
#4
Maria Chahrour, Brian J O'Roak, Emanuela Santini, Rodney C Samaco, Robin J Kleiman, M Chiara Manzini
Autism spectrum disorder (ASD) is a constellation of neurodevelopmental presentations with high heritability and both phenotypic and genetic heterogeneity. To date, mutations in hundreds of genes have been associated to varying degrees with increased ASD risk. A better understanding of the functions of these genes and whether they fit together in functional groups or impact similar neuronal circuits is needed to develop rational treatment strategies. We will review current areas of emphasis in ASD research, starting from human genetics and exploring how mouse models of human mutations have helped identify specific molecular pathways (protein synthesis and degradation, chromatin remodeling, intracellular signaling), which are linked to alterations in circuit function and cognitive/social behavior...
November 9, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27911014/the-effectiveness-of-an-outdoor-adventure-programme-for-young-children-with-autism-spectrum-disorder-a-controlled-study
#5
Ditza A Zachor, Shira Vardi, Shani Baron-Eitan, Inbal Brodai-Meir, Noa Ginossar, Esther Ben-Itzchak
AIM: Outdoor adventure programmes aim to improve interpersonal relationships using adventurous activities. The current study examined the effectiveness of an outdoor adventure programme in children with autism spectrum disorders (ASD). METHOD: The study included 51 participants (40 males, 11 females; age 3y 4mo-7y 4mo) enrolled in ASD special education kindergartens. Only the intervention group (n=30) participated in the outdoor adventure programme for 13 weeks, completing challenging physical activities that required cooperation and communication with peers and instructors...
December 2, 2016: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/27910247/auditory-processing-in-noise-is-associated-with-complex-patterns-of-disrupted-functional-connectivity-in-autism-spectrum-disorder
#6
Fahimeh Mamashli, Sheraz Khan, Hari Bharadwaj, Konstantinos Michmizos, Santosh Ganesan, Keri-Lee A Garel, Javeria Ali Hashmi, Martha R Herbert, Matti Hämäläinen, Tal Kenet
Autism spectrum disorder (ASD) is associated with difficulty in processing speech in a noisy background, but the neural mechanisms that underlie this deficit have not been mapped. To address this question, we used magnetoencephalography to compare the cortical responses between ASD and typically developing (TD) individuals to a passive mismatch paradigm. We repeated the paradigm twice, once in a quiet background, and once in the presence of background noise. We focused on both the evoked mismatch field (MMF) response in temporal and frontal cortical locations, and functional connectivity with spectral specificity between those locations...
December 2, 2016: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/27910235/the-impact-of-caregiver-mediated-jasper-on-child-restricted-and-repetitive-behaviors-and-caregiver-responses
#7
Clare Harrop, Amanda Gulsrud, Wendy Shih, Lilit Hovsepyan, Connie Kasari
Restricted and repetitive behaviors (RRBs) are a core feature of autism spectrum disorder (ASD). Compared to the social-communication impairments children show, we know less about why children engage in these repetitive actions and behaviors and how to help children (and their caregivers) with these behaviors. As a result, early intervention has typically focused on social-communication. In this study, we were interested in understanding how child RRBs changed following an intervention that targeted social-communication behaviors and if the training caregivers received changed how they responded to their child's RRBs...
December 2, 2016: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/27910232/strategies-of-readers-with-autism-when-responding-to-inferential-questions-an-eye-movement-study
#8
Martina Micai, Holly Joseph, Mila Vulchanova, David Saldaña
Previous research suggests that individuals with autism spectrum disorder (ASD) have difficulties with inference generation in reading tasks. However, most previous studies have examined how well children understand a text after reading or have measured on-line reading behavior without response to questions. The aim of this study was to investigate the online strategies of children and adolescents with autism during reading and at the same time responding to a question by monitoring their eye movements. The reading behavior of participants with ASD was compared with that of age-, language-, nonverbal intelligence-, reading-, and receptive language skills-matched participants without ASD (control group)...
December 2, 2016: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/27909851/brief-report-knowledge-and-confidence-of-emergency-medical-service-personnel-involving-treatment-of-an-individual-with-autism-spectrum-disorder
#9
David Wachob, Louis J Pesci
In order to best respond to an emergency situation, professionals need to have an understanding about Autism Spectrum Disorder (ASD) and techniques that will ensure proper care. The purpose of this study was to determine the knowledge and confidence of EMS personnel on interacting and treating an individual with ASD. Emergency Medical Technicians (EMT), and Paramedics were surveyed on their knowledge of ASD; familiarity or experience with ASD, and level of comfort responding to emergencies involving an individual with ASD...
December 1, 2016: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/27909850/a-rural-urban-comparison-in-emergency-department-visits-for-u-s-children-with-autism-spectrum-disorder
#10
Wanqing Zhang, Ashley E Mason, Brian Boyd, Linmarie Sikich, Grace Baranek
We examined rural-urban differences in emergency department visits, and child and clinical characteristics associated with visits for U.S. children aged 3-17 years with autism spectrum disorder (ASD). Rural children with ASD were twice more likely to have emergency department visits in urban hospitals than rural children without ASD. The children with ASD in rural areas were economically disadvantaged and concentrated in the South and Midwest regions. Rural children diagnosed with ASD and multiple comorbidities during emergency department visits were 1...
December 1, 2016: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/27909399/a-subset-of-autism-associated-genes-regulate-the-structural-stability-of-neurons
#11
REVIEW
Yu-Chih Lin, Jeannine A Frei, Michaela B C Kilander, Wenjuan Shen, Gene J Blatt
Autism spectrum disorder (ASD) comprises a range of neurological conditions that affect individuals' ability to communicate and interact with others. People with ASD often exhibit marked qualitative difficulties in social interaction, communication, and behavior. Alterations in neurite arborization and dendritic spine morphology, including size, shape, and number, are hallmarks of almost all neurological conditions, including ASD. As experimental evidence emerges in recent years, it becomes clear that although there is broad heterogeneity of identified autism risk genes, many of them converge into similar cellular pathways, including those regulating neurite outgrowth, synapse formation and spine stability, and synaptic plasticity...
2016: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/27906524/the-development-of-autism-spectrum-disorders-variability-and-causal-complexity
#12
REVIEW
Robert H Wozniak, Nina B Leezenbaum, Jessie B Northrup, Kelsey L West, Jana M Iverson
The autism spectrum is highly variable, both behaviorally and neurodevelopmentally. Broadly speaking, four related factors contribute to this variability: (1) genetic processes, (2) environmental events, (3) gene × environment interactions, and (4) developmental factors. Given the complexity of the relevant processes, it appears unlikely that autism spectrum atypicalities can be attributed to any one causal mechanism. Rather, the development of neural atypicality reflects an interaction of genetic and environmental risk factors...
December 1, 2016: Wiley Interdisciplinary Reviews. Cognitive Science
https://www.readbyqxmd.com/read/27905548/neurexin-regulates-nighttime-sleep-by-modulating-synaptic-transmission
#13
Huawei Tong, Qian Li, Zi Chao Zhang, Yi Li, Junhai Han
Neurexins are cell adhesion molecules involved in synaptic formation and synaptic transmission. Mutations in neurexin genes are linked to autism spectrum disorders (ASDs), which are frequently associated with sleep problems. However, the role of neurexin-mediated synaptic transmission in sleep regulation is unclear. Here, we show that lack of the Drosophila α-neurexin homolog significantly reduces the quantity and quality of nighttime sleep and impairs sleep homeostasis. We report that neurexin expression in Drosophila mushroom body (MB) αβ neurons is essential for nighttime sleep...
December 1, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27905541/serbian-language-version-of-the-modified-checklist-for-autism-in-toddlers-revised-with-follow-up-cross-cultural-adaptation-and-assessment-of-reliability
#14
Mia Carakovac, Jelena Jovanovic, Marko Kalanj, Nenad Rudic, Olivera Aleksic-Hil, Branko Aleksic, Itzel Bustos Villalobos, Hideki Kasuya, Norio Ozaki, Dusica Lecic-Tosevski, Milica Pejovic-Milovancevic
Early detection of Autism Spectrum Disorder (ASD) has proven to be of high significance, however there is a limited availability of ASD screening tools in Serbian language. In this study we aim to translate, assess reliability and, in part, test the applicability of Modified Checklist for Autism in Toddlers, Revised, with Follow-Up (M-CHAT R/F) in Serbian Healthcare environment. We screened 128 children in three primary healthcare centres and 20 children in a tertiary psychiatric center, using M-CHAT R/F translated into Serbian language, between December 2014 and October 2015...
December 1, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27904991/eat-up%C3%A2-family-centered-feeding-intervention-to-promote-food-acceptance-and-decrease-challenging-behaviors-a-single-case-experimental-design-replicated-across-three-families-of-children-with-autism-spectrum-disorder
#15
Joanna Cosbey, Deirdre Muldoon
This study evaluated the effectiveness of a family-centered feeding intervention, Easing Anxiety Together with Understanding and Perseverance (EAT-UP™), for promoting food acceptance of children with autism spectrum disorder at home. A concurrent multiple-baseline design was used with systematic replication across three families. Baseline was followed by an 'Intervention-Coaching' phase and then an 'Intervention-Independent' phase. Using direct observation and pre- and post-intervention questionnaires, data on acceptance of less preferred foods and challenging mealtime behaviors were collected...
November 30, 2016: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/27904735/urinary-metabolomics-of-young-italian-autistic-children-supports-abnormal-tryptophan-and-purine-metabolism
#16
Federica Gevi, Lello Zolla, Stefano Gabriele, Antonio M Persico
BACKGROUND: Autism spectrum disorder (ASD) is still diagnosed through behavioral observation, due to a lack of laboratory biomarkers, which could greatly aid clinicians in providing earlier and more reliable diagnoses. Metabolomics on human biofluids provides a sensitive tool to identify metabolite profiles potentially usable as biomarkers for ASD. Initial metabolomic studies, analyzing urines and plasma of ASD and control individuals, suggested that autistic patients may share some metabolic abnormalities, despite several inconsistencies stemming from differences in technology, ethnicity, age range, and definition of "control" status...
2016: Molecular Autism
https://www.readbyqxmd.com/read/27903723/cerebellar-shank2-regulates-excitatory-synapse-density-motor-coordination-and-specific-repetitive-and-anxiety-like-behaviors
#17
Seungmin Ha, Dongwon Lee, Yi Sul Cho, Changuk Chung, Ye-Eun Yoo, Jihye Kim, Jiseok Lee, Woohyun Kim, Hyosang Kim, Yong Chul Bae, Keiko Tanaka-Yamamoto, Eunjoon Kim
: Shank2 is a multidomain scaffolding protein implicated in the structural and functional coordination of multiprotein complexes at excitatory postsynaptic sites as well as in psychiatric disorders, including autism spectrum disorders. While Shank2 is strongly expressed in the cerebellum, whether Shank2 regulates cerebellar excitatory synapses, or contributes to the behavioral abnormalities observed in Shank2(-/-) mice, remains unexplored. Here we show that Shank2(-/-) mice show reduced excitatory synapse density in cerebellar Purkinje cells in association with reduced levels of excitatory postsynaptic proteins, including GluD2 and PSD-93, and impaired motor coordination in the Erasmus test...
November 30, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27900342/cacna1c-protecting-young-hippocampal-neurons-in-the-adult-brain
#18
Héctor De Jesús-Cortés, Anjali M Rajadhyaksha, Andrew A Pieper
Neuropsychiatric disease is the leading cause of disability in the United States, and fourth worldwide.(1,2) Not surprisingly, human genetic studies have revealed a common genetic predisposition for many forms of neuropsychiatric disease, potentially explaining why overlapping symptoms are commonly observed across multiple diagnostic categories. For example, the CACNA1C gene was recently identified in the largest human genome-wide association study to date as a risk loci held in common across 5 major forms of neuropsychiatric disease: bipolar disorder, schizophrenia, major depressive disorder (MDD), autism spectrum disorder and attention deficit-hyperactivity disorder...
2016: Neurogenesis (Austin, Tex.)
https://www.readbyqxmd.com/read/27899901/association-of-aryl-hydrocarbon-receptor-related-gene-variants-with-the-severity-of-autism-spectrum-disorders
#19
Takashi X Fujisawa, Shota Nishitani, Ryoichiro Iwanaga, Junko Matsuzaki, Chisato Kawasaki, Mamoru Tochigi, Tsukasa Sasaki, Nobumasa Kato, Kazuyuki Shinohara
Exposure to environmental chemicals, such as dioxin, is known to have adverse effects on the homeostasis of gonadal steroids, thereby potentially altering the sexual differentiation of the brain to express autistic traits. Dioxin-like chemicals act on the aryl hydrocarbon receptor (AhR), polymorphisms, and mutations of AhR-related gene may exert pathological influences on sexual differentiation of the brain, causing autistic traits. To ascertain the relationship between AhR-related gene polymorphisms and autism susceptibility, we identified genotypes of them in patients and controls and determined whether there are different gene and genotype distributions between both groups...
2016: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/27899716/behavioral-and-emotional-problems-in-high-functioning-girls-and-boys-with-autism-spectrum-disorders-parents-reports-and-adolescents-self-reports
#20
Ewa Pisula, Monika Pudło, Monika Słowińska, Rafał Kawa, Magdalena Strząska, Anna Banasiak, Tomasz Wolańczyk
The purpose of this study was to investigate sex differences in behavioral and emotional problems in high-functioning girls and boys with autism spectrum disorder. The results obtained by adolescents with autism spectrum disorder were compared with those of typically developing girls and boys. Correlations between parents' and adolescents' ratings were also analyzed. Participants were 35 girls and 35 boys with autism spectrum disorder, aged 11-18 years, matched for chronological age and full-scale IQ. The control group consisted of 24 typically developing girls and 24 boys of the same age and IQ...
November 29, 2016: Autism: the International Journal of Research and Practice
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