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https://www.readbyqxmd.com/read/28808237/coding-and-small-non-coding-transcriptional-landscape-of-tuberous-sclerosis-complex-cortical-tubers-implications-for-pathophysiology-and-treatment
#1
James D Mills, Anand M Iyer, Jackelien van Scheppingen, Anika Bongaarts, Jasper J Anink, Bart Janssen, Till S Zimmer, Wim G Spliet, Peter C van Rijen, Floor E Jansen, Martha Feucht, Johannes A Hainfellner, Pavel Krsek, Josef Zamecnik, Katarzyna Kotulska, Sergiusz Jozwiak, Anna Jansen, Lieven Lagae, Paolo Curatolo, David J Kwiatkowski, R Jeroen Pasterkamp, Ketharini Senthilkumar, Lars von Oerthel, Marco F Hoekman, Jan A Gorter, Peter B Crino, Angelika Mühlebner, Brendon P Scicluna, Eleonora Aronica
Tuberous Sclerosis Complex (TSC) is a rare genetic disorder that results from a mutation in the TSC1 or TSC2 genes leading to constitutive activation of the mechanistic target of rapamycin complex 1 (mTORC1). TSC is associated with autism, intellectual disability and severe epilepsy. Cortical tubers are believed to represent the neuropathological substrates of these disabling manifestations in TSC. In the presented study we used high-throughput RNA sequencing in combination with systems-based computational approaches to investigate the complexity of the TSC molecular network...
August 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28802915/neurological-evaluation-of-the-selection-stage-of-metaphor-comprehension-in-individuals-with-and-without-autism-spectrum-disorder
#2
Brea Chouinard, Joanne Volden, Ivor Cribben, Jacqueline Cummine
Because of their difficulties with figurative language in conversation, it is commonly thought that individuals with autism spectrum disorder (ASD) do not understand figurative meaning. However, recent research indicates that individuals with and without ASD are similar in the first two stages of metaphor comprehension, up to and including successful generation of the figurative meaning. In the current study, we used a sentence decision task to evaluate the subsequent stage of metaphor comprehension, the selection stage, which requires suppression/inhibition of the unintended meaning as part of selecting the intended meaning...
August 9, 2017: Neuroscience
https://www.readbyqxmd.com/read/28779937/effectiveness-of-yoga-training-program-on-the-severity-of-autism
#3
Mohammad Saber Sotoodeh, Elahe Arabameri, Maryam Panahibakhsh, Fatemeh Kheiroddin, Hatef Mirdoozandeh, Ahmad Ghanizadeh
This study examines the effect of yoga training program (YTP) on the severity of autism in children with High Function Autism (HFA). Twenty-nine children aged 7 to 15 (mean = 11.22, SD = 2.91) years were randomly allocated to either yoga or control group. The participants in the yoga group received an 8-week (24-session) Yoga Training Program (YTP). Parents or caregivers of participants completed autism treatment evaluation checklist (ATEC) at baseline and the end of the intervention. The results of the analysis showed that there were significant differences between the two groups with regards to all ATEC sub-scores except ATEC I (speech/language/communication)...
August 2017: Complementary Therapies in Clinical Practice
https://www.readbyqxmd.com/read/28770527/cognitive-behaviour-therapy-versus-a-counselling-intervention-for-anxiety-in-young-people-with-high-functioning-autism-spectrum-disorders-a-pilot-randomised-controlled-trial
#4
Suzanne M Murphy, Uttom Chowdhury, Susan W White, Laura Reynolds, Louisa Donald, Hilary Gahan, Zeinab Iqbal, Mahesh Kulkarni, Louise Scrivener, Hadi Shaker-Naeeni, Dee A Press
The use of cognitive-behavioural therapy (CBT) as a treatment for children and adolescents with autism spectrum disorder (ASD) has been explored in a number of trials. Whilst CBT appears superior to no treatment or treatment as usual, few studies have assessed CBT against a control group receiving an alternative therapy. Our randomised controlled trial compared use of CBT against person-centred counselling for anxiety in 36 young people with ASD, ages 12-18. Outcome measures included parent- teacher- and self-reports of anxiety and social disability...
August 2, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28770039/globally-weaker-and-topologically-different-resting-state-connectivity-in-youth-with-autism
#5
Benjamin E Yerys, John D Herrington, Theodore D Satterthwaite, Lisa Guy, Robert T Schultz, Danielle S Bassett
BACKGROUND: There is a lack of agreement about functional connectivity differences in individuals with autism spectrum disorder (ASD). Studies using absolute strength have found reduced connectivity, while those using relative strength--a measure of system topology--reveal mostly enhanced connectivity. We hypothesized that mixed findings may be driven by the metric of functional connectivity. METHODS: Resting-state echo planar 3 T functional magnetic resonance imaging scans were acquired on a Siemens Verio Scanner from 6 to 17-year-old youth with ASD (n = 81) and a matched typically developing control group (n = 82)...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28769018/fluorescence-imaging-of-synapse-dynamics-in-normal-circuit-maturation-and-in-developmental-disorders
#6
Shigeo Okabe
One of the most fundamental questions in neurobiology is how proper synaptic connections are established in the developing brain. Live-cell imaging of the synaptic structure and functional molecules can reveal the time course of synapse formation, molecular dynamics, and functional maturation. Using postsynaptic scaffolding proteins as a marker of synapse development, fluorescence time-lapse imaging revealed rapid formation of individual synapses that occurred within hours and their remodeling in culture preparations...
2017: Proceedings of the Japan Academy. Series B, Physical and Biological Sciences
https://www.readbyqxmd.com/read/28758788/-functional-architecture-of-visual-emotion-recognition-ability-a-latent-variable-approach-correction-to-lewis-lefevre-and-young-2016
#7
(no author information available yet)
Reports an error in "Functional architecture of visual emotion recognition ability: A latent variable approach" by Gary J. Lewis, Carmen E. Lefevre and Andrew W. Young (Journal of Experimental Psychology: General, 2016[May], Vol 145[5], 589-602). In the article, there were several errors in Table 5. The correlations between the AQ-10 and both the supramodal and face-specific latent ability factors were set as positive. They should have been negative. The correct values are shown in the table provided. (The following abstract of the original article appeared in record 2016-13445-001...
August 2017: Journal of Experimental Psychology. General
https://www.readbyqxmd.com/read/28750723/intra-individual-cognitive-imbalance-in-asd-between-perceptual-reasoning-and-ambiguity-solving-related-to-tool-use-comparison-among-children-exhibiting-asd-ad-hd-and-typical-development
#8
Keisuke Wakusawa, Chieko Nara, Yuki Kubota, Yayoi Tomizawa, Yasuyuki Taki, Yuko Sassa, Satoru Kobayashi, Sato Suzuki-Muromoto, Mieko Hirose, Hiroyuki Yokoyama, Takahiro Nara, Shigeo Kure, Norio Mori, Noriyoshi Takei, Ryuta Kawashima
OBJECTIVE: Several studies have suggested that objective deficits in the processing of abstract information in conjunction with an enhanced ability to process concrete information is a definitive characteristic of autism spectrum disorder (ASD). However, this cognitive imbalance is not necessarily clear in high-functioning autistic individuals who do not display absolute differences relative to typically developing (TD) populations. Thus, the purpose of this study was to identify this cognitive tendency in high-functioning autistic individuals using intra-individual cognitive comparisons...
July 24, 2017: Brain & Development
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
#9
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/28747876/structural-correlates-of-reading-the-mind-in-the-eyes-in-autism-spectrum-disorder
#10
Wataru Sato, Shota Uono, Takanori Kochiyama, Sayaka Yoshimura, Reiko Sawada, Yasutaka Kubota, Morimitsu Sakihama, Motomi Toichi
Behavioral studies have shown that individuals with autism spectrum disorder (ASD) have impaired ability to read the mind in the eyes. Although this impairment is central to their social malfunctioning, its structural neural correlates remain unclear. To investigate this issue, we assessed Reading the Mind in the Eyes Test, revised version (Eyes Test) and acquired structural magnetic resonance images in adults with high-functioning ASD (n = 19) and age-, sex- and intelligence quotient-matched typically developing (TD) controls (n = 19)...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28744761/olfactory-processing-in-male-children-with-autism-atypical-odor-threshold-and-identification
#11
Filippo Muratori, Alessandro Tonacci, Lucia Billeci, Tiziana Catalucci, Roberta Igliozzi, Sara Calderoni, Antonio Narzisi
Sensory issues are of great interest in ASD diagnosis. However, their investigation is mainly based on external observation (parent reports), with methodological limitations. Unobtrusive olfactory assessment allows studying autism neurosensoriality. Here, 20 male children with high-functioning ASD and 20 matched controls were administered a complete olfactory test battery, assessing olfactory threshold, identification and discrimination. ASD children show lower sensitivity (p = 0.041), lower identification (p = 0...
July 25, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28743991/altered-visual-cortical-processing-in-a-mouse-model-of-mecp2-duplication-syndrome
#12
Dinghong Zhang, Bin Yu, Jing Liu, Weiqian Jiang, Taorong Xie, Ran Zhang, Dali Tong, Zilong Qiu, Haishan Yao
As an epigenetic modulator of gene expression, Methyl-CpG binding protein 2 (MeCP2) is essential for normal neurological function. Dysfunction of MeCP2 is associated with a variety of neurological disorders. MECP2 gene duplication in human causes neuropsychiatric symptoms such as mental retardation and autism. MeCP2 overexpression in mice results in neurobehavioural disorders, dendritic abnormalities, and synaptic defects. However, how gain of MeCP2 function influences cortical processing of sensory information remains unclear...
July 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28738753/genetic-predictors-of-celiac-disease-lactose-intolerance-and-vitamin-d-function-and-presence-of-peptide-morphins-in-urine-of-children-with-neurodevelopmental-disorders
#13
Katarina Bojović, Biljana Stanković, Nikola Kotur, Dijana Krstić-Milošević, Vladimir Gašić, Sonja Pavlović, Branka Zukić, Đurđica Ignjatović
Gastrointestinal disturbances, nutritional deficiencies, and food intolerances are frequently observed in children with neurodevelopmental disorders (NDD). To reveal possible association of celiac disease risk variants (HLA-DQ), lactose intolerance associated variant (LCT-13910C>T) as well as variant associated with vitamin D function (VDR FokI) with NDD, polymerase chain reaction-based methodology was used. Additionally, intestinal peptide permeability was estimated in NDD patients and healthy children by measuring the level of peptides in urine using high-performance liquid chromatography...
July 24, 2017: Nutritional Neuroscience
https://www.readbyqxmd.com/read/28735159/gender-comparisons-in-children-with-asd-entering-early-intervention
#14
Alexandra M Fulton, Jessica M Paynter, David Trembath
BACKGROUND: Males are diagnosed with Autism Spectrum Disorder (ASD) approximately four times as often as females. This has led to interest in recent years of potential under-diagnosis of females, as well as negative consequences for females with ASD due to under-identification. A number of potential explanations for gender bias in diagnosis are discussed including that females and males may present differently despite showing the same core symptoms. Previous research has shown inconsistent findings in comparisons between genders in young children with ASD for whom early intervention is vital...
July 20, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28733900/the-putative-role-of-environmental-mercury-in-the-pathogenesis-and-pathophysiology-of-autism-spectrum-disorders-and-subtypes
#15
REVIEW
G Morris, B K Puri, R E Frye, M Maes
Exposure to organic forms of mercury has the theoretical capacity to generate a range of immune abnormalities coupled with chronic nitro-oxidative stress seen in children with autism spectrum disorder (ASD). The paper discusses possible mechanisms explaining the neurotoxic effects of mercury and possible associations between mercury exposure and ASD subtypes. Environmental mercury is neurotoxic at doses well below the current reference levels considered to be safe, with evidence of neurotoxicity in children exposed to environmental sources including fish consumption and ethylmercury-containing vaccines...
July 22, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28730732/shared-atypical-default-mode-and-salience-network-functional-connectivity-between-autism-and-schizophrenia
#16
Heng Chen, Lucina Q Uddin, Xujun Duan, Junjie Zheng, Zhiliang Long, Youxue Zhang, Xiaonan Guo, Yan Zhang, Jingping Zhao, Huafu Chen
Schizophrenia and autism spectrum disorder (ASD) are two prevalent neurodevelopmental disorders sharing some similar genetic basis and clinical features. The extent to which they share common neural substrates remains unclear. Resting-state fMRI data were collected from 35 drug-naïve adolescent participants with first-episode schizophrenia (15.6 ± 1.8 years old) and 31 healthy controls (15.4 ± 1.6 years old). Data from 22 participants with ASD (13.1 ± 3.1 years old) and 21 healthy controls (12...
July 21, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28729065/neural-circuits-for-social-cognition-implications-for-autism
#17
REVIEW
Marta Fernández, Irene Mollinedo-Gajate, Olga Peñagarikano
Social neuroscience, the study of the neurobiological basis of social behavior, has become a major area of current research in behavioral neuroscience and psychiatry, since many psychiatric disorders are characterized by social deficits. Social behavior refers to the behavioral response with regard to socially relevant information, and requires the perception and integration of social cues through a complex cognition process (i.e. social cognition) that involves attention, memory, motivation and emotion. Neurobiological and molecular mechanisms underlying social behavior are highly conserved across species, and inter- and intra-specific variability observed in social behavior can be explained to large extent by differential activity of this conserved neural network...
July 17, 2017: Neuroscience
https://www.readbyqxmd.com/read/28720891/whole-exome-sequencing-reveals-inherited-and-de-novo-variants-in-autism-spectrum-disorder-a-trio-study-from-saudi-families
#18
Bashayer Al-Mubarak, Mohamed Abouelhoda, Aisha Omar, Hesham AlDhalaan, Mohammed Aldosari, Michael Nester, Hussain A Alshamrani, Mohamed El-Kalioby, Ewa Goljan, Renad Albar, Shazia Subhani, Asma Tahir, Sultana Asfahani, Alaa Eskandrani, Ahmed Almusaiab, Amna Magrashi, Jameela Shinwari, Dorota Monies, Nada Al Tassan
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with genetic and clinical heterogeneity. The interplay of de novo and inherited rare variants has been suspected in the development of ASD. Here, we applied whole exome sequencing (WES) on 19 trios from singleton Saudi families with ASD. We developed an analysis pipeline that allows capturing both de novo and inherited rare variants predicted to be deleterious. A total of 47 unique rare variants were detected in 17 trios including 38 which are newly discovered...
July 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28716727/systematic-review-and-meta-analysis-links-autism-and-toxic-metals-and-highlights-the-impact-of-country-development-status-higher-blood-and-erythrocyte-levels-for-mercury-and-lead-and-higher-hair-antimony-cadmium-lead-and-mercury
#19
REVIEW
Amene Saghazadeh, Nima Rezaei
BACKGROUND: Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder that affects cognitive and higher cognitive functions. Increasing prevalence of ASD and high rates of related comorbidities has caused serious health loss and placed an onerous burden on the supporting families, caregivers, and health care services. Heavy metals are among environmental factors that may contribute to ASD. However, due to inconsistencies across studies, it is still hard to explain the association between ASD and toxic metals...
July 14, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28715786/background-lead-and-mercury-exposures-psychological-and-behavioral-problems-in-children
#20
Brooks B Gump, Matthew J Dykas, James A MacKenzie, Amy K Dumas, Bryce Hruska, Craig K Ewart, Patrick J Parsons, Christopher D Palmer, Kestutis Bendinskas
BACKGROUND: The potential harm from exposure to nonessential metals, particularly mercury (Hg) and lead (Pb), has been the focus of research for years. Initial interest focused on relatively high exposures; however, recent evidence suggests that even background exposures might have adverse consequences for child development. Identifying the extent of these consequences is now a priority. METHODS: We assessed blood Pb and Hg levels in a biracial sample of 9-11 year-old children (N = 203)...
July 14, 2017: Environmental Research
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