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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/27911742/current-perspectives-in-autism-spectrum-disorder-from-genes-to-therapy
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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/27905548/neurexin-regulates-nighttime-sleep-by-modulating-synaptic-transmission
#10
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
#11
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/27904952/what-to-expect-and-when-to-expect-it-an-fmri-study-of-expectancy-in-children-with-adhd-symptoms
#12
Branko M van Hulst, Patrick de Zeeuw, Yvonne Rijks, Sebastiaan F W Neggers, Sarah Durston
Changes in cognitive control and timing have both been implicated in ADHD. Both are involved in building and monitoring expectations about the environment, and altering behavior if those expectations are violated. In ADHD, problems with expectations about future events have high face validity, as this would be associated with behavior that is inappropriate only given a certain context, similar to symptoms of the disorder. In this fMRI study, we used a timing manipulated go/nogo task to assess brain activity related to expectations about what (cognitive control) and when (timing) events would occur...
December 1, 2016: European Child & Adolescent Psychiatry
https://www.readbyqxmd.com/read/27904843/cardiac-surgery-in-africa-a-thirty-five-year-experience-on-open-heart-surgery-in-cote-d-ivoire
#13
Koffi Herve Yangni-Angate, Christophe Meneas, Florent Diby, Manga Diomande, Anicet Adoubi, Yves Tanauh
BACKGROUND: Few centers for open heart surgery (OHS) are in Sub-Saharan Africa. Lack of OHS results is also noted. By reporting our African experience on OHS, the aim of this study was to fill the gap. METHODS: It is a retrospective study on 2,612 patients who were subject to an OHS between 1978 and 2013. Data were collected from demographical, clinical, investigative studies, surgical and outcomes parameters. RESULTS: There were 1,475 cases of rheumatic heart diseases (RHD), 126 endomyocardial fibrosis (EMF), 741 congenital heart diseases (CHDs) and 270 various affections...
October 2016: Cardiovascular Diagnosis and Therapy
https://www.readbyqxmd.com/read/27904735/urinary-metabolomics-of-young-italian-autistic-children-supports-abnormal-tryptophan-and-purine-metabolism
#14
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/27903069/low-concentration-pm10-had-no-effect-on-nasal-symptoms-and-flow-in-allergic-rhinitis-patients
#15
Young Hyo Kim, Kwang Pil Ko, Il Gyu Kang, Joo Hyun Jung, Dae Kyu Oh, Tae Young Jang, Seon Tae Kim
Objectives: Since Korea is geographically close to China (the origin site for Asian sand dust [ASD]) the health influence of ASD event will be still greater in Korea. We aimed to evaluate the effect of PM10 (particulate matter with aerodynamic diameter <10 μm, below 150 μg/m3) on the clinical course of allergic rhinitis (AR). Methods: We enrolled 47 healthy volunteers (group A) and 108 AR patients sensitized to house dust mites (group B). For 120 consecutive days (from February 1st to May 30th, 2012), all subjects reported their daily nasal symptoms and performed 2 peak flowmeter readings to measure peak nasal inspiratory flow (PNIF)...
December 2, 2016: Clinical and Experimental Otorhinolaryngology
https://www.readbyqxmd.com/read/27900839/multicenter-midterm-follow-up-results-using-the-gore-septal-occluder-for-atrial-septal-defect-closure-in-pediatric-patients
#16
Jochen Grohmann, Christian Wildberg, Peter Zartner, Tariq Abu-Tair, Gleb Tarusinov, Erwin Kitzmüller, Claudia Schmoor, Brigitte Stiller, Christoph Kampmann
OBJECTIVES: To assess the safety and efficacy of the Gore Septal Occluder (GSO) used for device-closure of significant secundum-type atrial septal defects (ASD II) focusing on pediatric patients. BACKGROUND: The GSO is a patch-like double disc device. Due to its design, it is assumed to be safe, even when implanted in ASDs with deficient retro-aortic rims. METHODS: Multicenter retrospective analysis of consecutive children and adolescents with a GSO in situ for at least 12 months according to a 1- to 4-year midterm follow-up...
November 30, 2016: Catheterization and Cardiovascular Interventions
https://www.readbyqxmd.com/read/27899901/association-of-aryl-hydrocarbon-receptor-related-gene-variants-with-the-severity-of-autism-spectrum-disorders
#17
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/27899267/tracking-health-care-service-use-and-the-experiences-of-adults-with-autism-spectrum-disorder-without-intellectual-disability-a-longitudinal-study-of-service-rates-barriers-and-satisfaction
#18
Vanessa Vogan, Johanna K Lake, Ami Tint, Jonathan A Weiss, Yona Lunsky
BACKGROUND: Adults with Autism Spectrum Disorder (ASD) encounter many difficulties finding and accessing health care services. Despite this, few studies have considered the health service use patterns of adults with ASD without intellectual disability (ID). OBJECTIVES: The current study examines a diverse range of medical and mental health services and supports, as well as adults' personal experiences accessing and using these services, barriers to service use, and reported unmet service needs...
November 22, 2016: Disability and Health Journal
https://www.readbyqxmd.com/read/27897213/decision-making-processes-based-on-social-conventional-rules-in-early-adolescents-with-and-without-autism-spectrum-disorders
#19
Hidetsugu Komeda, Hidekazu Osanai, Kaichi Yanaoka, Yuko Okamoto, Toru Fujioka, Sumiyoshi Arai, Keisuke Inohara, Masuo Koyasu, Takashi Kusumi, Shinichiro Takiguchi, Masao Kawatani, Hirokazu Kumazaki, Michio Hiratani, Akemi Tomoda, Hirotaka Kosaka
Autism spectrum disorder (ASD) is characterized by problems with reciprocal social interaction, repetitive behaviours/narrow interests, and impairments in the social cognition and emotional processing necessary for intention-based moral judgements. The aim of this study was to examine the information used by early adolescents with and without ASD when they judge story protagonists as good or bad. We predicted that adolescents with ASD would use protagonists' behaviour, while typically developing (TD) adolescents would use protagonists' characteristics when making the judgements...
November 29, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27896947/reduced-modulation-of-thalamocortical-connectivity-during-exposure-to-sensory-stimuli-in-asd
#20
Shulamite A Green, Leanna Hernandez, Susan Y Bookheimer, Mirella Dapretto
Recent evidence for abnormal thalamic connectivity in autism spectrum disorders (ASD) and sensory processing disorders suggests the thalamus may play a role in sensory over-responsivity (SOR), an extreme negative response to sensory stimuli, which is common in ASD. However, there is yet little understanding of changes in thalamic connectivity during exposure to aversive sensory inputs in individuals with ASD. In particular, the pulvinar nucleus of the thalamus is implicated in atypical sensory processing given its role in selective attention, regulation, and sensory integration...
November 29, 2016: Autism Research: Official Journal of the International Society for Autism Research
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