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José Pedro Ferreira, Chrystiane Vasconcelos Andrade Toscano, Aristides Machado Rodrigues, Guilherme Eustaquio Furtado, Mauro Gomes Barros, Rildo Souza Wanderley, Humberto Moreira Carvalho
Physical exercise has shown positive effects on symptomatology and on the reduction of comorbidities in population with autism spectrum disorder (ASD). However, there is still no consensus about the most appropriate exercise intervention model for children with ASD. The physical exercise program for children with autism (PEP-Aut) protocol designed allow us to (i) examine the multivariate associations between ASD symptoms, metabolic profile, physical activity level, physical fitness, and health-related quality of life of children with ASD; (ii) assess the effects of a 40-week exercise program on all these aspects of children with ASD...
2018: Frontiers in Public Health
Donna Hermawati, Farid Agung Rahmadi, Tanjung Ayu Sumekar, Tri Indah Winarni
Prevalence autism spectrum disorders (ASD) has been on rise, but many studies suggests over-diagnosed. Currently, children have more access to electronic media on the daily basis than those of previous generation. Some studies suggest that increases screen time is associated with melanopsin-expressing neurons and decreasing gamma-aminobutyric acid (GABA) neurotransmitter, and thus results aberrant behavior, decreased cognitive, and language development. Early exposure of electronic media in early life (< 2 years old) gives an impact on language, but it still inconclusive...
February 2018: Intractable & Rare Diseases Research
Jokthan Guivarch, Clarisse Chatel, Jeremie Mortreux, Chantal Missirian, Nicole Philip, François Poinso
BACKGROUND: Autism spectrum disorders are serious neurodevelopmental disorders that affect approximately 1% of the population. These disorders are substantially influenced by genetics. Several recent linkage analyses have examined copy number variations associated with autism risk. Microdeletion of the 2q13 region is considered a pathogenic copy number variation. This microdeletion is involved in developmental delays, congenital heart defects, dysmorphism, and various psychiatric disorders, including autism spectrum disorders...
March 18, 2018: Journal of Medical Case Reports
L Dell'Osso, M Corsi, C Gesi, C A Bertelloni, G Massimetti, D Peroni, A Bonuccelli, A Orsini, C Carmassi
Increasing literature has shown the usefulness of a dimensional approach to mental disorders, particularly when exploring subjects exposed to traumatic experiences such as a severe illness in one's child. Recent evidence suggests an increased vulnerability in subjects with autism spectrum symptoms to develop post-traumatic stress symptoms. The aim of the present study was to evaluate the presence of adult autism subthreshold spectrum in a sample of parents of children with epilepsy and its impact on post-traumatic stress spectrum symptoms in the same study sample...
February 12, 2018: Comprehensive Psychiatry
Colin J Palmer, Rebecca P Lawson, Shravanti Shankar, Colin W G Clifford, Geraint Rees
Progress in our understanding of autism spectrum disorder (ASD) has recently been sought by characterising how systematic differences in canonical neural computations employed across the sensory cortex might contribute to clinical symptoms in diverse sensory, cognitive, and social domains. A key proposal is that ASD is characterised by reduced divisive normalisation of sensory responses. This provides a bridge between genetic and molecular evidence for an increased ratio of cortical excitation to inhibition in ASD and the functional characteristics of sensory coding that are relevant for understanding perception and behaviour...
February 21, 2018: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
Stefanie J Schmidt, Ayla Behar, Frauke Schultze-Lutter
Asperger Syndrome and/or Clinical High Risk of Psychosis? A Differential Diagnostic Challenge This case-study deals with the often difficult differential diagnosis of Asperger syndrome and a clinical high risk state of psychosis, in particular as indicated by attenuated psychotic symptoms, as well as with its therapeutic implications. The presented case is a 10-year old girl, who has not been diagnosed with an autism spectrum disorder before being referred to a specialized center for early detection of psychosis due to possible hallucinatory experiences and delusional ideas...
March 2018: Praxis der Kinderpsychologie und Kinderpsychiatrie
Zoë W Hawks, Natasha Marrus, Anne L Glowinski, John N Constantino
Previous research has suggested that behavioral comorbidity is the rule rather than the exception in autism. The present study aimed to trace the respective origins of autistic and general psychopathologic traits-and their association-to infancy. Measurements of autistic traits and early liability for general psychopathology were assessed in 314 twins at 18 months, ascertained from the general population using birth records. 222 twins were re-evaluated at 36 months. Standardized ratings of variation in social communication at 18 months were highly heritable and strongly predicted autistic trait scores at 36 months...
March 16, 2018: Journal of Abnormal Child Psychology
Owen Y Chao, Richelle Yunger, Yi-Mei Yang
Autism spectrum disorders (ASD) are diagnosed based on the behavioral criteria of impaired social interaction, defective communication and repetitive behaviors. Psychiatric comorbidities, such as anxiety and intellectual disability, are commonly present in ASD. The BTBR T+Itpr3tf/J (BTBR) mice display a range of autistic phenotypes, yet whether this mouse model is appropriate to study psychiatric comorbidity in ASD remains unclear. We addressed this issue by subjecting the BTBR animals to three-chambered apparatus, open field, object attention test and elevated open platform...
March 12, 2018: Behavioural Brain Research
Tao Tan, Wei Wang, Haitao Xu, Zhilin Huang, Yu Tian Wang, Zhifang Dong
Patients with autism spectrum disorder (ASD) display abnormalities in neuronal development, synaptic function and neural circuits. The imbalance of excitatory and inhibitory (E/I) synaptic transmission has been proposed to cause the main behavioral characteristics of ASD. Repetitive transcranial magnetic stimulation (rTMS) can directly or indirectly induce excitability and synaptic plasticity changes in the brain noninvasively. However, whether rTMS can ameliorate autistic-like behaviors in animal model via regulating the balance of E/I synaptic transmission is unknown...
2018: Frontiers in Cellular Neuroscience
Jacque P K Ip, Ikue Nagakura, Jeremy Petravicz, Keji Li, Erik A C Wiemer, Mriganka Sur
Microdeletion of a region in chromosome 16p11.2 increases susceptibility to autism. Although this region contains exons of 29 genes, disrupting only a small segment of the region, which spans 5 genes, is sufficient to cause autistic traits. One candidate gene in this critical segment is MVP , which encodes for the major vault protein (MVP) that has been implicated in regulation of cellular transport mechanisms. MVP expression levels in MVP +/- mice closely phenocopy those of 16p11.2 mutant mice, suggesting that MVP +/- mice may serve as a model of MVP function in 16p11...
March 14, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Jovana Kovacevic, Gregoire Maroteaux, Desiree Schut, Maarten Loos, Mohit Dubey, Julika Pitsch, Esther Remmelink, Bastijn Koopmans, James Crowley, L Niels Cornelisse, Patrick F Sullivan, Susanne Schoch, Ruud F Toonen, Oliver Stiedl, Matthijs Verhage
De novo heterozygous mutations in STXBP1/Munc18-1 cause early infantile epileptic encephalopathies (EIEE4, OMIM #612164) characterized by infantile epilepsy, developmental delay, intellectual disability, and can include autistic features. We characterized the cellular deficits for an allelic series of seven STXBP1 mutations and developed four mouse models that recapitulate the abnormal EEG activity and cognitive aspects of human STXBP1-encephalopathy. Disease-causing STXBP1 variants supported synaptic transmission to a variable extent on a null background, but had no effect when overexpressed on a heterozygous background...
March 12, 2018: Brain: a Journal of Neurology
Daniel P Sheppard, Jelle P Bruineberg, Anett Kretschmer-Trendowicz, Mareike Altgassen
OBJECTIVE: The current article set out to review all research conducted to date investigating prospective memory (PM) in autism. METHOD: All studies on PM in autism are first described, followed by a critical review and discussion of experimental findings within the multiprocess framework. PM in autism is then considered through an embodied predictive-coding account of autism. RESULTS: Overall, despite somewhat inconsistent methodologies, a general deficit in PM in autism is observed, with evidence mostly in line with the multiprocess framework...
March 14, 2018: Clinical Neuropsychologist
L Bell, C Oliver, A Wittkowski, J Moss, D Hare
BACKGROUND: Catatonia-like presentations in people with autism have been increasingly recognised within research and diagnostic guidelines. The recently developed Attenuated Behaviour Questionnaire has identified that attenuated behaviour [autistic catatonia] is very prevalent in people with autism spectrum disorders (ASDs) and associated with repetitive behaviour. In the current study, we investigated attenuated behaviour within two genetic syndromes associated with ASD and examined ASD and repetitive behaviour as longitudinal predictors of attenuated behaviour...
March 13, 2018: Journal of Intellectual Disability Research: JIDR
Leif Karlsson, Anna Nordenström, Tatja Hirvikoski, Svetlana Lajic
Dexamethasone (DEX) is used to prevent prenatal virilization in female fetuses with congenital adrenal hyperplasia (CAH). Since treatment has to be started before the genotype of the fetus is known, 7 out of 8 fetuses will be exposed to DEX without benefit. Previously, we have observed negative effects on cognition and behavior in DEX treated children. Here we evaluated neuropsychological functions, psychopathology and autistic traits in non-CAH DEX-treated adults exposed during the first trimester of fetal life (duration 6...
March 1, 2018: Psychoneuroendocrinology
Avniel Singh Ghuman, Rebecca N van den Honert, Theodore J Huppert, Gregory L Wallace, Alex Martin
BACKGROUND: Prevailing theories suggest that autism spectrum disorder (ASD) results from impaired brain communication, causing aberrant synchrony among neuronal populations. However, it remains debated whether synchrony abnormalities are among local or long-range circuits, are circuit specific or are generalized, reflect hypersynchrony or reflect hyposynchrony, and are frequency band-specific or are distributed across the frequency spectrum. METHODS: To help clarify these unresolved questions, we recorded spontaneous magnetoencephalography data and used a data-driven, whole-brain analysis of frequency-specific interregional synchrony in higher-functioning adolescents and adults, with 17 ASD and 18 control subjects matched on age, IQ, and sex, and equal for motion...
April 2017: Biological Psychiatry: Cognitive Neuroscience and Neuroimaging
Góra Bartłomiej, Gofron Zygmunt, Grosiak Magdalena, Aptekorz Małgorzata, Kazek Beata, Kocelak Piotr, Radosz-Komoniewska Halina, Chudek Jerzy, Martirosian Gayane
Infectious factors are taken into consideration in pathophysiology of autism spectrum disorders (ASD). ASD patients often suffer from gastrointestinal disorders. The intestinal microbiota of autistic patients significantly differs from that in healthy individuals. The aim of the study was to compare the profile of toxins produced by C. perfringens strains isolated from feces of children with ASD, with healthy individuals and obese subjects. This study included 111 strains of C. perfringens: 49 isolates from 29 children with ASD, 30 - from 17 healthy individuals and 32 - from 24 young obese subjects...
March 8, 2018: Anaerobe
Sophie Dupont
Catamenial epilepsy, defined as the exacerbation of the frequency of seizures in a given phase of the menstrual cycle, affects 35% of women. In women with catamenial epilepsy with perimenstrual seizures, progesterone therapy may be effective. In case of enzyme inducer AEDs, hormonal contraception is deprecated (estroprogestative or progestative pill, progestative implant, patches or hormonal rings). Because of its high malformative teratogenic potential, its possible depressive cognitive effects and the autistic risk, sodium valproate is not indicated during pregnancy...
March 8, 2018: La Presse Médicale
MingXia Yu, Tao Cao, Dan Yu, Fusheng Huang
Genetic susceptibility to high mercury body burden has been suggested as an autism risk factor in children. Metallothionein III (MT3) is the brain-specific form of the metallothionein family, which plays a key role in metal metabolism. We therefore looked for genetic variations in the MT3 gene that might increase the predisposition to autism. DNA was extracted from 132 autistic children and 132 age and gender-matched unrelated controls. All the samples were analyzed for nine single nucleotide polymorphisms (SNPs) with minor allele frequency > 10% in the MT3 gene...
March 9, 2018: Neurotoxicity Research
Fenny S Zwart, Constance Th W M Vissers, Joseph H R Maes
It is assumed that learning on the Serial Reaction Time (SRT) task is related to learning involved in social skill development affected in autism, but this assumption has hardly been investigated. We have therefore examined associations between SRT task learning and social impairment measured by the Social Responsiveness Scale in 72 autistic and non-autistic adults. Results revealed a positive correlation between deterministic sequence learning, putatively involving explicit learning, and social impairment in autistic adults but not in non-autistic adults...
March 9, 2018: Journal of Autism and Developmental Disorders
Benjamin W Mann
While previous studies in health communication have examined online news media regarding autism, there is a lack of research that critically examines how such media representations may stigmatize autism and seeks to eliminate the condition, particularly in the context of the resurging measles, mumps, and rubella (MMR) vaccine-autism controversy. To address this gap in the literature, this study analyzes 153 articles that engage the MMR vaccine-autism controversy from the top 10 online news sources in the U...
March 9, 2018: Health Communication
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