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https://www.readbyqxmd.com/read/28736607/typical-versus-delayed-speech-onset-influences-verbal-reporting-of-autistic-interests
#1
Liliane Chiodo, Steve Majerus, Laurent Mottron
BACKGROUND: The distinction between autism and Asperger syndrome has been abandoned in the DSM-5. However, this clinical categorization largely overlaps with the presence or absence of a speech onset delay which is associated with clinical, cognitive, and neural differences. It is unknown whether these different speech development pathways and associated cognitive differences are involved in the heterogeneity of the restricted interests that characterize autistic adults. METHOD: This study tested the hypothesis that speech onset delay, or conversely, early mastery of speech, orients the nature and verbal reporting of adult autistic interests...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28735298/foxp1-related-intellectual-disability-syndrome-a-recognisable-entity
#2
Ilse Meerschaut, Daniel Rochefort, Nicole Revençu, Justine Pètre, Christina Corsello, Guy A Rouleau, Fadi F Hamdan, Jacques L Michaud, Jenny Morton, Jessica Radley, Nicola Ragge, Sixto García-Miñaúr, Pablo Lapunzina, Maria Palomares Bralo, Maria Ángeles Mori, Stéphanie Moortgat, Valérie Benoit, Sandrine Mary, Nele Bockaert, Ann Oostra, Olivier Vanakker, Milen Velinov, Thomy Jl de Ravel, Djalila Mekahli, Jonathan Sebat, Keith K Vaux, Nataliya DiDonato, Andrea K Hanson-Kahn, Louanne Hudgins, Bruno Dallapiccola, Antonio Novelli, Luigi Tarani, Joris Andrieux, Michael J Parker, Katherine Neas, Berten Ceulemans, An-Sofie Schoonjans, Darina Prchalova, Marketa Havlovicova, Miroslava Hancarova, Magdalena Budisteanu, Annelies Dheedene, Björn Menten, Patrick A Dion, Damien Lederer, Bert Callewaert
BACKGROUND: Mutations in forkhead box protein P1 (FOXP1) cause intellectual disability (ID) and specific language impairment (SLI), with or without autistic features (MIM: 613670). Despite multiple case reports no specific phenotype emerged so far. METHODS: We correlate clinical and molecular data of 25 novel and 23 previously reported patients with FOXP1 defects. We evaluated FOXP1 activity by an in vitro luciferase model and assessed protein stability in vitro by western blotting...
July 22, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28734238/decreased-levels-of-g-protein-coupled-estrogen-receptor-in-children-with-autism-spectrum-disorders
#3
Hatice Altun, Ergül Belge Kurutaş, Nilfer Şahin, Hayati Sınır, Ebru Fındıklı
Sex hormones, specially estrogen, and ıt is receptors plays a critical role in the pathogenesis of psychiatric disorders including autism spectrum disorders (ASD). The aim of this study was to investigate the relationship between ASD and G protein-coupled estrogen receptor (GPER), a recently discovered estrogen receptors, and also to study the relation of serum GPER levels with the severity of autistic symptoms. The present study included 45 children with drug naive ASD diagnosed by DSM-V criteria, aged between 3 and 12 years and 40 age- and gender-matched healthy controls...
June 6, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28734102/are-electromagnetic-fields-in-incubators-a-risk-factor-for-autism
#4
Carlo V Bellieni, Giuseppe Buonocore
Hugo Lagercrantz recently argued (1) that a possible cause of infantile autism was the unnatural isolation that babies experienced in neonatal incubators. Atypical brain connectivity has been detected in children with autism and it is possible that this may be also due to environmental factors, including the lack of physiological stimuli that is typically found in the incubator environment. We suggest that also another factor may expose babies in incubators to the risk of developing autistic traits and that is the high electromagnetic fields (EMF) produced by the incubator's electric engine...
July 22, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28733898/d-cycloserine-ameliorates-autism-like-deficits-by-removing-glua2-containing-ampa-receptors-in-a-valproic-acid-induced-rat-model
#5
Han-Fang Wu, Po See Chen, Ya-Ting Hsu, Chi-Wei Lee, Tzu-Feng Wang, Yi-Ju Chen, Hui-Ching Lin
Valproic acid (VPA)-exposed rat offspring have demonstrated autism spectrum disorder (ASD) phenotypes and impaired N-methyl-D-aspartate receptor (NMDAR)-dependent long-term depression (LTD) in the lateral nucleus of the amygdala. NMDAR partial agonist D-cycloserine (DCS) has been reported to act as a cognitive enhancer by increasing the NMDAR response to improve autistic-like phenotypes in animals. However, the mechanism of DCS in alleviating the ASD is still unknown. Using combined behavioral, electrophysiological, and molecular approaches, we found that DCS administration rescued social interaction deficits and anxiety/repetitive-like behaviors observed in VPA-exposed offspring...
July 21, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28732269/gyral-net-a-new-representation-of-cortical-folding-organization
#6
Hanbo Chen, Yujie Li, Fangfei Ge, Gang Li, Dinggang Shen, Tianming Liu
One distinct feature of the cerebral cortex is its convex (gyri) and concave (sulci) folding patterns. Due to the remarkable complexity and variability of gyral/sulcal shapes, it has been challenging to quantitatively model their organization patterns. Inspired by the observation that the lines of gyral crests can form a connected graph on each brain hemisphere, we propose a new representation of cortical gyri/sulci organization pattern - gyral net, which models cortical architecture from a graph perspective, starting with nodes and edges obtained from the reconstructed cortical surfaces...
July 15, 2017: Medical Image Analysis
https://www.readbyqxmd.com/read/28724480/neuroticism-and-the-overlap-between-autistic-and-adhd-traits-findings-from-a-population-sample-of-young-adult-australian-twins
#7
Shin-Ho Park, Adam J Guastella, Michael Lynskey, Arpana Agrawal, John N Constantino, Sarah E Medland, Yun Ju C Song, Nicholas G Martin, Lucía Colodro-Conde
Neuroticism, a 'Big Five' personality trait, has been associated with sub-clinical traits of both autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). The objective of the current study was to examine whether causal overlap between ASD and ADHD traits can be accounted for by genetic and environmental risk factors that are shared with neuroticism. We performed twin-based structural equation modeling using self-report data from 12 items of the Neo Five-Factor Inventory Neuroticism domain, 11 Social Responsiveness Scale items, and 12 Adult ADHD Self-Report Scale items obtained from 3,170 young adult Australian individual twins (1,081 complete pairs)...
August 2017: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/28724385/increase-of-cytosolic-phospholipase-a2-as-hydrolytic-enzyme-of-phospholipids-and-autism-cognitive-social-and-sensory-dysfunction-severity
#8
Hanan Qasem, Laila Al-Ayadhi, Hussain Al Dera, Afaf El-Ansary
BACKGROUND: Autism is neurodevelopmental disorder that is characterized by developmental, behavioral, social and sensory abnormalities. Researchers have focused in last years in immunological alteration and inflammation as a hot subject in autism field. This work aims to study the alteration in phospholipids (PE, PS, and PC) together with the change in cPLA2 concentration as the main phospholipid hydrolytic enzyme in autistic patients compared to control. It was also extended to find a correlation between these biomarkers and severity of autism measured as childhood autism rating scale (CARS), Social responsiveness scale (SRS), and Short sensory profile (SSP)...
June 15, 2017: Lipids in Health and Disease
https://www.readbyqxmd.com/read/28722199/facial-expression-coding-in-children-and-adolescents-with-autism-reduced-adaptability-but-intact-norm-based-coding
#9
Gillian Rhodes, Nichola Burton, Linda Jeffery, Ainsley Read, Libby Taylor, Louise Ewing
Individuals with autism spectrum disorder (ASD) can have difficulty recognizing emotional expressions. Here, we asked whether the underlying perceptual coding of expression is disrupted. Typical individuals code expression relative to a perceptual (average) norm that is continuously updated by experience. This adaptability of face-coding mechanisms has been linked to performance on various face tasks. We used an adaptation aftereffect paradigm to characterize expression coding in children and adolescents with autism...
July 19, 2017: British Journal of Psychology
https://www.readbyqxmd.com/read/28721058/clinical-patterns-and-outcomes-of-status-epilepticus-in-patients-with-tuberous-sclerosis-complex
#10
Hatem S Shehata, Hadeer Mahmoud AbdelGhaffar, Mohammed Nasreldin, Alaa Elmazny, Ahmed Abdelalim, Asmaa Sabbah, Nevin M Shalaby
INTRODUCTION: Refractory epilepsy is a common clinical manifestation in patients with tuberous sclerosis complex (TSC), which can be complicated by many life-threatening conditions, such as status epilepticus (SE). However, very few reports mention the patterns and semiology of SE in those patients. OBJECTIVE: To study the clinical characteristics and outcomes of SE in TSC patients. MATERIALS AND METHODS: This observational, prospective study was carried out on 36 Egyptian children with definite TSC...
2017: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/28719227/simvastatin-as-an-adjunctive-therapy-to-risperidone-in-treatment-of-autism-a-randomized-double-blind-placebo-controlled-clinical-trial
#11
Ehsan Moazen-Zadeh, Fatemeh Shirzad, Mohammad-Ali Karkhaneh-Yousefi, Rasoul Khezri, Mohammad-Reza Mohammadi, Shahin Akhondzadeh
OBJECTIVES: Providing novel treatments for autism has been a subject of long-standing research. Based on etiopathological findings, we aim at assessing potential therapeutic effects of statins, here simvastatin, on autism symptoms for the first time. METHODS: In this randomized, double-blind, placebo-controlled, parallel-group 10-week clinical trial, 70 drug-free children aged 4 to 12 years old with diagnosis of autistic disorder based on the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision, who had an Aberrant Behavior Checklist-Community (ABC-C) scale irritability subscale score of ≥12, were equally randomized to receive either simvastatin (20-40 mg/day) or placebo as an adjunct to risperidone (1-2 mg/day) whereas administration of both drugs was started simultaneously from baseline...
July 18, 2017: Journal of Child and Adolescent Psychopharmacology
https://www.readbyqxmd.com/read/28717229/investigation-of-autistic-traits-through-strategic-decision-making-in-games-with-adaptive-agents
#12
Alexis B Craig, Emily Grossman, Jeffrey L Krichmar
Autism Spectrum Disorders are characterized by difficulties in communicating and cooperating with other people. Impairment in Theory of Mind (ToM), the ability to infer what another person is thinking, may contribute to these social deficits. The present study assesses the relationship between autistic traits and decision-making in a socioeconomic game environment that measures ToM and cooperation. We quantified participant strategy during game play with computer agents that simulated aspects of ToM or fixed strategy agents with static behaviors or heuristics...
July 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28713324/color-vision-losses-in-autism-spectrum-disorders
#13
Elaine C Zachi, Thiago L Costa, Mirella T S Barboni, Marcelo F Costa, Daniela M O Bonci, Dora F Ventura
Autism spectrum disorders (ASDs) are neurodevelopmental conditions characterized by impairments in social/communication abilities and restricted behaviors. The present study aims to examine color vision discrimination in ASD children and adolescents without intellectual disability. The participants were also subdivided in order to compare color vision thresholds of autistic participants and those who achieved diagnostic criteria for Asperger Syndrome (AS). Nine subjects with autism, 11 participants with AS and 36 typically developing children and adolescents participated in the study...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28709814/the-therapeutic-implication-of-a-novel-scn2a-mutation-associated-early-onset-epileptic-encephalopathy-with-rett-like-features
#14
Jao-Shwann Liang, Li-Ju Lin, Ming-Tao Yang, Jinn-Shyan Wang, Jyh-Feng Lu
Epileptic encephalopathies are highly heterogeneous and phenotypical disorders with different underlying genetic defects. Mutations in the SCN2A gene cause different epilepsy syndromes, including epilepsy of infancy with migrating focal seizures, Ohtahara syndrome, and West syndrome. We utilized a targeted next generation sequencing (NGS) approach on a girl with early-onset seizures and Rett-like features, including autistic behavior, limited hand function with chorea, and profound intellectual disability, to identify novel missense mutation (c...
July 11, 2017: Brain & Development
https://www.readbyqxmd.com/read/28707360/reciprocity-in-autistic-and-typically-developing-children-and-adolescents-with-and-without-mild-intellectual-disabilities
#15
T Backer van Ommeren, H M Koot, S Begeer
The assessment of autism in individuals with mild intellectual disabilities (MID) is complicated because of the overlap between autistic traits and intellectual limitations. Impaired social emotional reciprocity is a core diagnostic criterion for autism. However, it is unknown whether reciprocal behaviour differs between MID individuals with or without an autism spectrum disorder (ASD). This study explored differences in reciprocal behaviour of 35 children and adolescents with MID (intelligence quotient 50-85): 15 with ASD (ASD-MID) and 20 with typical development (TD-MID) using the Interactive Drawing Test (IDT)...
August 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28705096/autism-spectrum-disorders-in-adult-outpatients-with-obsessive-compulsive-disorder-in-the-uk
#16
Maheshi Wikramanayake, William Mandy, Sonia Shahper, Sukhwinder Kaur, Sangeetha Kolli, Selma Osman, Jemma Reid, Kiri Jefferies Sewell, Naomi Fineberg
BACKGROUND: Patients with obsessive compulsive disorder (OCD) frequently show traits of autism spectrum disorders (ASD). This is one of the first studies to explore the clinical impact of the overlap between OCD and ASD as a categorical diagnosis. METHODS: A cross-sectional survey in 73 adult outpatients with DSM-IV OCD. Autistic traits were measured using the Autism-Spectrum Quotient (AQ). A clinical estimate ASD diagnosis was made by interview using DSM-IV-TR criteria...
July 14, 2017: International Journal of Psychiatry in Clinical Practice
https://www.readbyqxmd.com/read/28702447/effects-of-physical-activity-on-debilitating-behaviours-in-13-to-20-year-old-males-with-severe-autism-spectrum-disorder
#17
Linda Duffy, Bahman Baluch, Sarah Welland, Evren Raman
The presented study investigated the extent to which engaging in a therapeutic sporting programme in males with severe autism spectrum disorder (ASD) improves the debilitating behaviours commonly associated with ASD. Furthermore, the views of parents of the autistic participants were assessed concerning the effectiveness of the programme. Participants were eight 13- to 20-year-old males born in the United Kingdom from a school and sports college for pupils with severe learning difficulties. The selection was using volunteer sampling from the "Monday Club" initiative, run by Saracens Sports Foundation in partnership with a local school and specialist sports college...
June 2017: Journal of Exercise Rehabilitation
https://www.readbyqxmd.com/read/28694700/role-of-sirt1-pgc-1%C3%AE-in-mitochondrial-oxidative-stress-in-autistic-spectrum-disorder
#18
Xiaosong Bu, De Wu, Xiaomei Lu, Li Yang, Xiaoyan Xu, Juan Wang, Jiulai Tang
Autistic spectrum disorder (ASD) is a neurodevelopmental disorder and has a high prevalence in children. Recently, mitochondrial oxidative stress has been proposed to be associated with ASD. Besides, SIRT1/PGC-1α signaling plays an important role in combating oxidative stress. In this study, we sought to determine the role of SIRT1/PGC-1α signaling in the ASD lymphoblastoid cell lines (LCLs). In this study, the mRNA and protein expressions of SIRT1/PGC-1α axis genes were assessed in 35 children with ASD and 35 healthy controls (matched for age, gender, and IQ)...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28691955/children-with-obsessive-compulsive-symptomology-in-the-general-population-different-subtypes
#19
Josjan Zijlmans, Reshmi Marhe, Jan van der Ende, Frank C Verhulst, Arne Popma, Henning Tiemeier, Odile A van den Heuvel
OBJECTIVE: Obsessive-compulsive disorder (OCD) is a moderately prevalent neurodevelopmental disorder, and many children suffer from subclinical obsessive-compulsive (OC) symptoms. The disorder is heterogeneous and has high comorbidity rates. In early disease stages of psychiatric disorders, symptoms are typically hard to attribute exclusively to specific disorders. The authors investigated whether profiles of neuropsychiatric symptoms can be distinguished within a large population-based study of school-aged children (7-10 years) scoring high on OC symptoms...
July 6, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28688003/increased-training-intensity-induces-proper-membrane-localization-of-actin-remodeling-proteins-in-the-hippocampus-preventing-cognitive-deficits-implications-for-fragile-x-syndrome
#20
L A Martinez, Maria Victoria Tejada-Simon
Behavioral intervention therapy has proven beneficial in the treatment of autism and intellectual disabilities (ID), raising the possibility of certain changes in molecular mechanisms activated by these interventions that may promote learning. Fragile X syndrome (FXS) is a neurodevelopmental disorder characterized by autistic features and intellectual disability and can serve as a model to examine mechanisms that promote learning. FXS results from mutations in the fragile X mental retardation 1 gene (Fmr1) that prevents expression of the Fmr1 protein (FMRP), a messenger RNA (mRNA) translation regulator at synapses...
July 8, 2017: Molecular Neurobiology
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