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Autism prevention

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https://www.readbyqxmd.com/read/28819289/escrt-iii-membrane-trafficking-misregulation-contributes-to-fragile-x-syndrome-synaptic-defects
#1
Dominic J Vita, Kendal Broadie
The leading cause of heritable intellectual disability (ID) and autism spectrum disorders (ASD), Fragile X syndrome (FXS), is caused by loss of the mRNA-binding translational suppressor Fragile X Mental Retardation Protein (FMRP). In the Drosophila FXS disease model, we found FMRP binds shrub mRNA (human Chmp4) to repress Shrub expression, causing overexpression during the disease state early-use critical period. The FXS hallmark is synaptic overelaboration causing circuit hyperconnectivity. Testing innervation of a central brain learning/memory center, we found FMRP loss and Shrub overexpression similarly increase connectivity...
August 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28817804/structural-mechanism-for-modulation-of-synaptic-neuroligin-neurexin-signaling-by-mdga-proteins
#2
Jonathan Elegheert, Vedrana Cvetkovska, Amber J Clayton, Christina Heroven, Kristel M Vennekens, Samuel N Smukowski, Michael C Regan, Wanyi Jia, Alexandra C Smith, Hiro Furukawa, Jeffrey N Savas, Joris de Wit, Jo Begbie, Ann Marie Craig, A Radu Aricescu
Neuroligin-neurexin (NL-NRX) complexes are fundamental synaptic organizers in the central nervous system. An accurate spatial and temporal control of NL-NRX signaling is crucial to balance excitatory and inhibitory neurotransmission, and perturbations are linked with neurodevelopmental and psychiatric disorders. MDGA proteins bind NLs and control their function and interaction with NRXs via unknown mechanisms. Here, we report crystal structures of MDGA1, the NL1-MDGA1 complex, and a spliced NL1 isoform. Two large, multi-domain MDGA molecules fold into rigid triangular structures, cradling a dimeric NL to prevent NRX binding...
August 16, 2017: Neuron
https://www.readbyqxmd.com/read/28815619/sluggish-cognitive-tempo-in-children-and-adolescents-with-higher-functioning-autism-spectrum-disorders-social-impairments-and-internalizing-symptoms
#3
Outi Reinvall, Teija Kujala, Arja Voutilainen, Anu-Liisa Moisio, Pekka Lahti-Nuuttila, Marja Laasonen
Sluggish cognitive tempo (SCT) was introduced in 1980s in the field of attention deficit hyperactivity disorder (ADHD). Studies indicate that symptoms of SCT are separate from symptoms of ADHD and independently associated with multiple domains of functioning in clinical groups and in typical development. We assessed whether similar pattern would apply to higher functioning autism spectrum disorders (ASD). Children with higher functioning ASD (N = 55; 5-15 years) were divided into the ASD+High SCT (n = 17), the ASD+Medium SCT (n = 18) and the ASD+Low SCT (n = 20) groups based on parent-rated daydreaming and slowness on the Five to Fifteen questionnaire (FTF)...
August 16, 2017: Scandinavian Journal of Psychology
https://www.readbyqxmd.com/read/28813454/applying-machine-learning-to-identify-autistic-adults-using-imitation-an-exploratory-study
#4
Baihua Li, Arjun Sharma, James Meng, Senthil Purushwalkam, Emma Gowen
Autism spectrum condition (ASC) is primarily diagnosed by behavioural symptoms including social, sensory and motor aspects. Although stereotyped, repetitive motor movements are considered during diagnosis, quantitative measures that identify kinematic characteristics in the movement patterns of autistic individuals are poorly studied, preventing advances in understanding the aetiology of motor impairment, or whether a wider range of motor characteristics could be used for diagnosis. The aim of this study was to investigate whether data-driven machine learning based methods could be used to address some fundamental problems with regard to identifying discriminative test conditions and kinematic parameters to classify between ASC and neurotypical controls...
2017: PloS One
https://www.readbyqxmd.com/read/28807762/diagnostic-exome-sequencing-identifies-a-heterozygous-mbd5-frameshift-mutation-in-a-family-with-intellectual-disability-and-epilepsy
#5
Ji Yoon Han, In Goo Lee, Woori Jang, Myungshin Kim, Yonggoo Kim, Ja Hyun Jang, Joonhong Park
Methyl-CpG-binding domain 5 (MBD5)-associated neurodevelopmental disorder caused by 2q23.1 or MBD5-specific mutation has been recently identified as a genetic disorder associated with autism spectrum disorders. Phenotypic features of 2q23.1 deletion or disruption of MBD5 gene include severe intellectual disability, seizure, significant speech impairment, sleep disturbance, and autistic-like behavioural problems. Here we report a 7-year-old girl with intellectual disability and epilepsy without previous clinical diagnosis...
August 11, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28799289/prenatal-exposure-to-fever-is-associated-with-autism-spectrum-disorder-in-the-boston-birth-cohort
#6
Martha Brucato, Christine Ladd-Acosta, Mengying Li, Deanna Caruso, Xiumei Hong, Jamie Kaczaniuk, Elizabeth A Stuart, M Daniele Fallin, Xiaobin Wang
Autism spectrum disorder (ASD) is phenotypically and etiologically heterogeneous, with evidence for genetic and environmental contributions to disease risk. Research has focused on the prenatal period as a time where environmental exposures are likely to influence risk for ASD. Epidemiological studies have shown significant associations between prenatal exposure to maternal immune activation (MIA), caused by infections and fever, and ASD. However, due to differences in study design and exposure measurements no consistent patterns have emerged revealing specific times or type of MIA exposure that are most important to ASD risk...
August 11, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28795659/role-of-mycotoxins-in-the-pathobiology-of-autism-a-first-evidence
#7
Barbara De Santis, Carlo Brera, Alessandra Mezzelani, Sabina Soricelli, Francesca Ciceri, Giorgio Moretti, Francesca Debegnach, Maria Clara Bonaglia, Laura Villa, Massimo Molteni, Maria Elisabetta Raggi
OBJECTIVES: Gene-environment interaction is an emerging hypothesis to expound not only the autism pathogenesis but also the increased incidence of neurodevelopmental disorders (such as autistic spectrum disorder, attention-deficit, hyperactivity disorder). Among xenobiotics, mycotoxins are worldwide contaminants of food that provoke toxicological effects, crucially resembling several symptoms associated with autism such as oxidative stress, intestinal permeability, and inflammation. Here, we focused on a group of mycotoxins to test their role in the manifestation of autism, try to explain their mechanism of action, and discuss possible preventive and therapeutic interventions...
August 10, 2017: Nutritional Neuroscience
https://www.readbyqxmd.com/read/28774750/advances-in-nonhuman-primate-models-of-autism-integrating-neuroscience-and-behavior
#8
REVIEW
M D Bauman, C S Schumann
Given the prevalence and societal impact of autism spectrum disorders (ASD), there is an urgent need to develop innovative preventative strategies and treatments to reduce the alarming number of cases and improve core symptoms for afflicted individuals. Translational efforts between clinical and preclinical research are needed to (i) identify and evaluate putative causes of ASD, (ii) determine the underlying neurobiological mechanisms, (iii) develop and test novel therapeutic approaches and (iv) ultimately translate basic research into safe and effective clinical practices...
July 31, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28770615/folate-metabolism-abnormalities-in-autism-potential-biomarkers
#9
Richard E Frye, John C Slattery, Edward V Quadros
Autism spectrum disorder (ASD) has been linked to abnormalities in folate metabolism. Polymorphisms in folate genes may act in complex polygenic ways to increase the risk of developing ASD. Autoantibodies that block folate transport into the brain have been associated with ASD and children with ASD and these autoantibodies respond to high doses of a reduced form of folate known as folinic acid (leucovorin calcium). Some of the same abnormalities are also found in mothers of children with ASD and supplementing folate during preconception and gestational periods reduces the risk to the offspring from developing ASD...
August 3, 2017: Biomarkers in Medicine
https://www.readbyqxmd.com/read/28770525/a-pilot-randomised-controlled-trial-of-a-school-based-resilience-intervention-to-prevent-depressive-symptoms-for-young-adolescents-with-autism-spectrum-disorder-a-mixed-methods-analysis
#10
Bethany A Mackay, Ian M Shochet, Jayne A Orr
Despite increased depression in adolescents with Autism Spectrum Disorder (ASD), effective prevention approaches for this population are limited. A mixed methods pilot randomised controlled trial (N = 29) of the evidence-based Resourceful Adolescent Program-Autism Spectrum Disorder (RAP-A-ASD) designed to prevent depression was conducted in schools with adolescents with ASD in years 6 and 7. Quantitative results showed significant intervention effects on parent reports of adolescent coping self-efficacy (maintained at 6 month follow-up) but no effect on depressive symptoms or mental health...
August 2, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28764155/role-of-endocannabinoids-on-neuroinflammation-in-autism-spectrum-disorder-prevention
#11
REVIEW
Syed Shahid Habib, Khalid Al-Regaiey, Shahid Bashir, Muhammad Iqbal
Autism Spectrum Disorder (ASD) disease has become a mounting socio-economical alarm around the world. Neuroinflammtion had been shown in postmortem brain specimens from ASD patients. The Endocannabinoids System (ES) consists of a family of locally produced, short-lived, endogenous, phospholipid-derived agonists (endocannabinoids) that control energy balance and body composition. The growing number of medical benefits of ES, such as their ability to regulate processes like neuroinflammation, neurogenesis and memory, raise the question of their potential role as a preventive treatment of ASD...
June 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28762254/the-effects-of-prenatal-iron-deficiency-and-risperidone-treatment-on-the-rat-frontal-cortex-%C3%A2-a-proteomic-analysis
#12
Lorna Farrelly, Maria Victoria Rosato-Siri, Melanie Föcking, Martin Codagnone, Analia Reines, Patrick Dicker, Kieran Wynne, Michael Farrell, Mary Cannon, Gerard Cagney, Juana Maria Pasquini, David R Cotter
Prenatal iron deficiency (pID) has been described to increase the risk for neurodevelopmental disorders such as autism and schizophrenia; however, the precise molecular mechanisms are still unknown. Here, we utilized high throughput mass spectrometry to examine the proteomic effects of pID in adulthood on the rat frontal cortex area (FCA). In addition, the FCA proteome was examined in adulthood following risperidone treatment in adolescence to see if these effects could be prevented. We identified 1501 proteins of which 100 were significantly differentially expressed in the FCA at post-natal day 90...
July 31, 2017: Proteomics
https://www.readbyqxmd.com/read/28747892/how-useful-is-electroencephalography-in-the-diagnosis-of-autism-spectrum-disorders-and-the-delineation-of-subtypes-a-systematic-review
#13
REVIEW
Oana Gurau, William J Bosl, Charles R Newton
Autism spectrum disorders (ASD) are thought to be associated with abnormal neural connectivity. Presently, neural connectivity is a theoretical construct that cannot be easily measured. Research in network science and time series analysis suggests that neural network structure, a marker of neural activity, can be measured with electroencephalography (EEG). EEG can be quantified by different methods of analysis to potentially detect brain abnormalities. The aim of this review is to examine evidence for the utility of three methods of EEG signal analysis in the ASD diagnosis and subtype delineation...
2017: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/28735226/perinatal-fluoxetine-effects-on-social-play-the-hpa-system-and-hippocampal-plasticity-in-pre-adolescent-male-and-female-rats-interactions-with-pre-gestational-maternal-stress
#14
Mary Gemmel, Mariah Hazlett, Eszter Bögi, Sonsoles De Lacalle, Lesley A Hill, Nikolaos Kokras, Geoffrey L Hammond, Christina Dalla, Thierry D Charlier, Jodi L Pawluski
Selective serotonin reuptake inhibitor medications (SSRIs) are the first lines of treatment for maternal affective disorders, and are prescribed to up to 10% of pregnant women. Concern has been raised about how perinatal exposure to these medications affect offspring neurobehavioral outcomes, particularly those related to social interactions, as recent research has reported conflicting results related to autism spectrum disorder (ASD) risk in children prenatally exposed to SSRIs. Therefore, the aim of this work was to investigate the effects of perinatal exposure to the SSRI fluoxetine on social play behaviors and the hypothalamic pituitary adrenal system, using a model of pre-gestational maternal stress...
July 15, 2017: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/28724519/antidepressants-during-pregnancy-and-autism-in-offspring-population-based-cohort-study
#15
Dheeraj Rai, Brian K Lee, Christina Dalman, Craig Newschaffer, Glyn Lewis, Cecilia Magnusson
Objectives To study the association between maternal use of antidepressants during pregnancy and autism spectrum disorder (ASD) in offspring.Design Observational prospective cohort study with regression methods, propensity score matching, sibling controls, and negative control comparison.Setting Stockholm County, Sweden.Participants 254 610 individuals aged 4-17, including 5378 with autism, living in Stockholm County in 2001-11 who were born to mothers who did not take antidepressants and did not have any psychiatric disorder, mothers who took antidepressants during pregnancy, or mothers with psychiatric disorders who did not take antidepressants during pregnancy...
July 19, 2017: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/28720619/predictors-of-emergency-department-use-by-adolescents-and-adults-with-autism-spectrum-disorder-a-prospective-cohort-study
#16
Yona Lunsky, Jonathan A Weiss, Melissa Paquette-Smith, Anna Durbin, Ami Tint, Anna M Palucka, Elspeth Bradley
OBJECTIVES: To determine predictors of emergency department (ED) visits in a cohort of adolescents and adults with autism spectrum disorder (ASD). DESIGN: Prospective cohort study. SETTING: Community-based study from Ontario, Canada. PARTICIPANTS: Parents reported on their adult sons and daughters with ASD living in the community (n=284). MAIN OUTCOME MEASURES: ED visits for any reason, ED visits for medical reasons and ED visits for psychiatric reasons over 1 year...
July 18, 2017: BMJ Open
https://www.readbyqxmd.com/read/28711654/involvement-of-endoplasmic-reticulum-stress-and-neurite-outgrowth-in-the-model-mice-of-autism-spectrum-disorder
#17
Koichi Kawada, Seisuke Mimori, Yasunobu Okuma, Yasuyuki Nomura
Neurodevelopmental disorders are congenital impairments, impeding the growth and development of the central nervous system. These disorders include autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder in Diagnostic and Statistical Manual of Mental Disorders-5. ASD is caused by a gene defect and chromosomal duplication. Despite numerous reports on ASD, the pathogenic mechanisms are not clear. The optimal methods to prevent ASD and to treat it are also not clear. Other studies have reported that endoplasmic reticulum (ER) stress contributes to the pathogenesis of neurodegenerative diseases...
July 12, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28703319/brain-carnitine-deficiency-causes-nonsyndromic-autism-with-an-extreme-male-bias-a-hypothesis
#18
REVIEW
Arthur L Beaudet
Could 10-20% of autism be prevented? We hypothesize that nonsyndromic or "essential" autism involves extreme male bias in infants who are genetically normal, but they develop deficiency of carnitine and perhaps other nutrients in the brain causing autism that may be amenable to early reversal and prevention. That brain carnitine deficiency might cause autism is suggested by reports of severe carnitine deficiency in autism and by evidence that TMLHE deficiency - a defect in carnitine biosynthesis - is a risk factor for autism...
August 2017: BioEssays: News and Reviews in Molecular, Cellular and Developmental Biology
https://www.readbyqxmd.com/read/28702058/effectiveness-of-audiovisual-distraction-in-behavior-modification-during-dental-caries-assessment-and-sealant-placement-in-children-with-autism-spectrum-disorder
#19
Kausar Sadia Fakhruddin, Hisham Yehia El Batawi
BACKGROUND: The aim of this study was to evaluate the effectiveness of audiovisual (AV) distraction in behavior modification during dental caries assessment and sealant placement in children with autism spectrum disorder. MATERIALS AND METHODS: This study was conducted on 28 children diagnosed with autism spectrum disorder, aged 6.5-9.8 years. Children underwent one introductory (desensitization) appointment and three treatment sessions. During the introductory session, children had the procedures explained to them, they watched a movie projected on a screen while oral screening and assessment of cooperation level were carried out...
May 2017: Dental Research Journal
https://www.readbyqxmd.com/read/28698772/examining-the-causes-of-autism
#20
David G Amaral
Autism is a broad, complex, and increasingly important brain disorder. New data from the Center for Disease Control and Prevention indicate that one in sixty-eight children is born with some degree of autism. Autism is also more common in males by a four to one ratio. Making it especially difficult to discuss in finite, conclusive terms is the fact that there is no biological test for autism; diagnosis is based on behavior, and the only verified treatment is intensive behavior therapy. Our author, one of the nation's foremost researchers on autism, examines the prenatal factors that contribute to the disorder...
January 2017: Cerebrum: the Dana Forum on Brain Science
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