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https://www.readbyqxmd.com/read/29761934/assessing-the-heterogeneity-of-autism-spectrum-symptoms-in-a-school-population
#1
Paula Morales-Hidalgo, Pere J Ferrando, Josefa Canals
The aim of the present study was to assess whether the nature of the main autistic features (i.e., social communication problems and repetitive and restrictive patterns) are better conceptualized as dimensional or categorical in a school population. The study was based on the teacher ratings of two different age groups: 2,585 children between the ages of 10 and 12 (Primary Education; PE) and 2,502 children between the ages of 3 and 5 (Nursery Education; NE) from 60 mainstream schools. The analyses were based on Factor Mixture Analysis, a novel approach that combines dimensional and categorical features and prevents spurious latent classes from appearing...
May 15, 2018: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29761862/cellular-stress-and-apoptosis-contribute-to-the-pathogenesis-of-autism-spectrum-disorder
#2
Daoyin Dong, Horst Ronald Zielke, David Yeh, Peixin Yang
The molecular pathogenesis of autism spectrum disorder, a neurodevelopmental disorder, is still elusive. In this study, we investigated the possible roles of endoplasmic reticulum (ER) stress, oxidative stress, and apoptosis as molecular mechanisms underlying autism. This study compared the activation of ER stress signals (protein kinase R-like endoplasmic reticulum kinase [PERK], activating transcription factor 6 [ATF6], inositol-requiring enzyme 1 alpha [IRE1α]) in different brain regions (prefrontal cortex, hippocampus, cerebellum) in subjects with autism and in age-matched controls...
May 15, 2018: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29760409/histone-deacetylase-inhibitor-ms-275-restores-social-and-synaptic-function-in-a-shank3-deficient-mouse-model-of-autism
#3
Kaijie Ma, Luye Qin, Emmanuel Matas, Lara J Duffney, Aiyi Liu, Zhen Yan
Autism is a neurodevelopmental disorder characterized by social deficits and repetitive behaviors. Genetic screening has identified synaptic, transcriptional, and chromatin genes disrupted in autistic patients. Haploinsufficiency of Shank3, which encodes a scaffold protein at glutamatergic synapses, is causally linked to autism. Using a Shank3-deficient mouse model that exhibits prominent autism-like phenotypes, we have found that histone acetylation in the prefrontal cortex (PFC) is abnormally low, which can be reversed by MS-275 (also known as Entinostat, SNDX-275), a class I histone deacetylase (HDAC) inhibitor that is selectively potent in PFC...
April 19, 2018: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/29757142/autistic-traits-but-not-schizotypy-predict-increased-weighting-of-sensory-information-in-bayesian-visual-integration
#4
Povilas Karvelis, Aaron R Seitz, Stephen M Lawrie, Peggy Seriès
Recent theories propose that schizophrenia/schizotypy and autistic spectrum disorder are related to impairments in Bayesian inference i.e. how the brain integrates sensory information (likelihoods) with prior knowledge. However existing accounts fail to clarify: i) how proposed theories differ in accounts of ASD vs. schizophrenia and ii) whether the impairments result from weaker priors or enhanced likelihoods. Here, we directly address these issues by characterizing how 91 healthy participants, scored for autistic and schizotypal traits, implicitly learned and combined priors with sensory information...
May 14, 2018: ELife
https://www.readbyqxmd.com/read/29753921/de-novo-loss-of-function-variants-of-ash1l-are-associated-with-an-emergent-neurodevelopmental-disorder
#5
Wei Shen, Patti Krautscheid, Audrey M Rutz, Pinar Bayrak-Toydemir, Sarah L Dugan
De novo variants of ASH1L, which encodes a histone methyltransferase, have been reported in a few patients with intellectual disability and autistic features. Here, we identified a novel de novo frame-shift variant, c.2422_2423delAAinsT which predicts p.(Lys808TyrfsTer40), in ASH1L in a patient with multiple congenital anomalies (MCA), fine motor developmental delay, learning difficulties, attention deficit hyperactivity disorder, sleep apnea, and scoliosis. This frame-shift variant is expected to result in loss-of-function...
May 10, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29753726/two-single-nucleotide-polymorphisms-of-the-reln-gene-and-symptom-based-and-developmental-deficits-among-children-and-adolescents-with-autistic-spectrum-disorders-in-the-tianjin-china
#6
Geng-Fu Wang, Sheng Ye, Lei Gao, Yu Han, Xuan Guo, Xiao-Peng Dong, Yuan-Yuan Su, Xin Zhang
Increasing evidence has revealed that genetic variants in Reelin (RELN) gene, especially single-nucleotide polymorphisms (SNPs), correlate with autistic spectrum disorders (ASD) risk; however, no consensus have been reached. This study aimed to provide additional evidence for the association between two SNPs of RELN (i.e., rs736707, rs2229864) and ASD risk, as well as the relationship between RELN gene and symptom-based and developmental deficits of ASD patients in Chinese Han children and adolescents. 157 ASD subjects and 256 typical development (TD) controls were genotyped by TaqMan® genotyping assay...
May 10, 2018: Behavioural Brain Research
https://www.readbyqxmd.com/read/29753322/clinical-outcomes-of-interactive-intensive-and-individual-3i-play-therapy-for-children-with-asd-a-two-year-follow-up-study
#7
Elodie Tilmont Pittala, Yann Saint-Georges-Chaumet, Claire Favrot, Antoine Tanet, David Cohen, Catherine Saint-Georges
BACKGROUND: The outcomes of psycho-educational interventions for Autism Spectrum Disorders (ASDs) comorbid with severe to moderate intellectual disability (ID) are insufficiently documented. In this prospective study, we examined a developmental individual, interactive and intensive approach, called the '3i method', which is based on play therapy. METHODS: Twenty DSM-IV-TR ASD subjects (mean chronological age 63.8 ± 37.8 months; mean developmental age 19.5 ± 6...
May 12, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29753047/chromosomal-microarray-analysis-of-bulgarian-patients-with-epilepsy-and-intellectual-disability
#8
Valentina Peycheva, Kunka Kamenarova, Neviana Ivanova, Dimitar Stamatov, Daniela Avdjieva-Tzavella, Iliana Alexandrova, Sashka Zhelyazkova, Iliana Pacheva, Petya Dimova, Ivan Ivanov, Ivan Litvinenko, Veneta Bozhinova, Ivailo Tournev, Emil Simeonov, Vanyo Mitev, Albena Jordanova, Radka Kaneva
High resolution chromosomal microarray analysis (CMA) has facilitated the identification of small chromosomal rearrangements throughout the genome, associated with various neurodevelopmental phenotypes, including ID/DD. Recently, it became evident that intellectual disability (ID)/developmental delay (DD) can occur with associated co-morbidities like epileptic seizures, autism and additional congenital anomalies. These observations require whole genome approach in order to detect the genetic causes of these complex disorders...
May 9, 2018: Gene
https://www.readbyqxmd.com/read/29752661/tracking-the-influence-of-autistic-traits-on-competencies-among-school-aged-children-with-subthreshold-autistic-traits-a-longitudinal-study
#9
Eileen T Crehan, Julie Baer, Robert R Althoff, John N Constantino
This study aims to further explore the implications of autism spectrum disorder (ASD) symptoms for children who do not meet full diagnostic criteria. More specific characterization of how challenges present relative to traits of ASD such as social responsiveness is vital to developing an understanding of what competency and mental health difficulties these impairments are related to, and if they persist over time. Assessments of autistic traits, clinical symptomotology, and competency were used to quantify the relation of these domains cross-sectionally and across time...
May 11, 2018: Child Psychiatry and Human Development
https://www.readbyqxmd.com/read/29742462/the-link-between-interoceptive-processing-and-anxiety-in-children-diagnosed-with-autism-spectrum-disorder-extending-adult-findings-into-a-developmental-sample
#10
E R Palser, A Fotopoulou, E Pellicano, J M Kilner
Anxiety is a major associated feature of autism spectrum disorders. The incidence of anxiety symptoms in this population has been associated with altered interoceptive processing. Here, we investigated whether recent findings of impaired interoceptive accuracy (quantified using heartbeat detection tasks) and exaggerated interoceptive sensibility (subjective sensitivity to internal sensations on self-report questionnaires) in autistic adults, can be extended into a school-age sample of children and adolescents (n = 75)...
May 6, 2018: Biological Psychology
https://www.readbyqxmd.com/read/29742331/youth-with-autism-spectrum-disorder-in-the-emergency-department
#11
Sarah Lytle, Andrew Hunt, Sonal Moratschek, Marcie Hall-Mennes, Martha Sajatovic
OBJECTIVE: This comprehensive literature review summarizes reports on emergency department (ED) use by youth with autism spectrum disorder (ASD). DATA SOURCES: We conducted a systematic search of the PubMed, PsycINFO, CINAHL, and EMBASE databases (1985-2016), limited to studies published in English. The following search terms were used: autism, autistic, Asperger, emergency department/room/physician/doctor/treatment/medicine, childhood developmental disorders (pervasive), and emergencies...
May 8, 2018: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/29739549/progress-in-the-usa-for-autistic-spectrum-disorder
#12
EDITORIAL
The Lancet
No abstract text is available yet for this article.
May 5, 2018: Lancet
https://www.readbyqxmd.com/read/29738079/patients-with-chronic-fatigue-syndrome-do-not-score-higher-on-the-autism-spectrum-quotient-than-healthy-controls-comparison-with-autism-spectrum-disorder
#13
Indre Bileviciute-Ljungar, Daniel Maroti, Susanne Bejerot
Clinically, there is an overlap of several symptoms of chronic fatigue syndrome (CFS) and autism spectrum disorder (ASD), including fatigue; brain "fog"; cognitive impairments; increased sensitivity to sound, light, and odour; increased pain and tenderness; and impaired emotional contact. Adults with CFS (n = 59) or ASD (n = 50) and healthy controls (HC; n = 53) were assessed with the Autism-Spectrum Quotient (AQ) in a cross-sectional study. Non-parametric analysis was used to compare AQ scores among the groups...
May 8, 2018: Scandinavian Journal of Psychology
https://www.readbyqxmd.com/read/29737001/clinical-and-functional-characterization-of-two-novel-zbtb20-mutations-causing-primrose-syndrome
#14
Emilia Stellacci, Katharina Steindl, Pascal Joset, Laura Mercurio, Massimiliano Anselmi, Serena Cecchetti, Laura Gogoll, Markus Zweier, Annette Hackenberg, Gianfranco Bocchinfuso, Lorenzo Stella, Marco Tartaglia, Anita Rauch
Primrose syndrome (PS) is a rare disorder characterized by macrocephaly, tall stature, intellectual disability, autistic traits, and disturbances of glucose metabolism with insulin-resistant diabetes and distal muscle wasting occurring in adulthood. The disorder is caused by functional dysregulation of ZBTB20, a transcriptional repressor controlling energetic metabolism and developmental programs. ZBTB20 maps in a genomic region that is deleted in the 3q13.31 microdeletion syndrome, which explains the clinical overlap between the two disorders...
May 7, 2018: Human Mutation
https://www.readbyqxmd.com/read/29731598/broader-autism-phenotype-in-parents-of-children-with-autism-a-systematic-review-of-percentage-estimates
#15
Eric Rubenstein, Devika Chawla
The broader autism phenotype (BAP) is a collection of sub-diagnostic autistic traits more common in families of individuals with autism spectrum disorder (ASD) than in the general population. BAP is a latent construct that can be defined using different domains, measured using multiple instruments, and reported using different techniques. Therefore, estimates of BAP may vary greatly across studies. Our objective was to systematically review studies that reported occurrence of BAP in parents of children with ASD in order to quantify and describe heterogeneity in estimates...
June 2018: Journal of Child and Family Studies
https://www.readbyqxmd.com/read/29731309/trace-element-levels-are-associated-with-neuroinflammatory-markers-in-children-with-autistic-spectrum-disorder
#16
Anatoly V Skalny, Natalia V Simashkova, Anastasia A Skalnaya, Tatiana P Klyushnik, Irina V Zhegalova, Andrei R Grabeklis, Margarita G Skalnaya, Alexey A Tinkov
The objective of the present study was to estimate the association between brain inflammatory markers and serum trace element levels as assessed by inductively coupled plasma mass spectrometry at NexION 300D. Leukocyte elastase (LE), α1-proteinase inhibitor (α1-PI) activity, anti-nerve growth factor-antibodies (anti-NGF-Ab), and anti-myelin basic protein-antibodies (anti-MBP-Ab) levels were assessed as inflammatory markers. The obtained data demonstrate that the increase in LE and α1-PI activity is associated with higher serum Cr and Cu levels, respectively...
April 27, 2018: Journal of Trace Elements in Medicine and Biology
https://www.readbyqxmd.com/read/29717186/novel-nexmif-pathogenic-variant-in-a-boy-with-severe-autistic-features-intellectual-disability-and-epilepsy-and-his-mildly-affected-mother
#17
Nelle Lambert, Corinne Dauve, Emmanuelle Ranza, Periklis Makrythanasis, Federico Santoni, Frédérique Sloan-Béna, Stefania Gimelli, Jean-Louis Blouin, Michel Guipponi, Armand Bottani, Stylianos E Antonarakis, Markus M Kosel, Joel Fluss, Ariane Paoloni-Giacobino
Intellectual disability (ID) and autism spectrum disorders are complex neurodevelopmental disorders occurring among all ethnic and socioeconomic groups. Pathogenic variants in the neurite extension and migration factor (NEXMIF) gene (formerly named KIAA2022) on the X chromosome are responsible for ID, autistic behavior, epilepsy, or dysmorphic features in males. Most affected females described had a milder phenotype or were asymptomatic obligate carriers. We report here for the first time mother-to-son transmission of a novel NEXMIF truncating variant without X-inactivation skewing in the blood...
May 1, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29715444/dynamic-duo-fmrp-and-tdp-43-regulating-common-targets-causing-different-diseases
#18
Diana Ferro, Stephen Yao, Daniela C Zarnescu
RNA binding proteins play essential roles during development and aging, and are also involved in disease pathomechanisms. RNA sequencing and omics analyses have provided a window into systems level alterations in neurological disease, and have identified RNA processing defects among notable disease mechanisms. This review focuses on two seemingly distinct neurological disorders, the RNA binding proteins they are linked to, and their newly discovered functional relationship. When deficient, Fragile X Mental Retardation Protein (FMRP) causes developmental deficits and autistic behaviors while TAR-DNA Binding Protein (TDP-43) dysregulation causes age dependent neuronal degeneration...
April 28, 2018: Brain Research
https://www.readbyqxmd.com/read/29706160/autistic-traits-and-suicidal-thoughts-plans-and-self-harm-in-late-adolescence-population-based-cohort-study
#19
Iryna Culpin, Becky Mars, Rebecca M Pearson, Jean Golding, Jon Heron, Isidora Bubak, Peter Carpenter, Cecilia Magnusson, David Gunnell, Dheeraj Rai
OBJECTIVE: To examine the hypothesis that autism spectrum disorders (ASD) diagnosis and traits in childhood are associated with suicidal thoughts, plans and self-harm at 16 years, and that any observed associations are explained by depression at 12 years. METHOD: We examined associations between ASD diagnosis and 4 dichotomized ASD traits (social communication, pragmatic language, repetitive behavior, and sociability) with suicidal and nonsuicidal self-harm, suicidal thoughts, and suicidal plans at age 16 years in 5,031 members of the United Kingdom-based birth cohort study the Avon Longitudinal Study of Parents and Children...
May 2018: Journal of the American Academy of Child and Adolescent Psychiatry
https://www.readbyqxmd.com/read/29704141/2d-4d-ratio-in-neurodevelopmental-disorders-a-twin-study
#20
Lynnea Myers, Annelies Van't Westeinde, Ralf Kuja-Halkola, Kristiina Tammimies, Sven Bölte
The second to fourth digit (2D:4D) ratio is of interest in autism spectrum disorder (ASD). Studies on the relationship of this ratio with other neurodevelopmental disorders (NDDs) are lacking. Investigating the association between the ratio and NDDs in twins can provide insight into genetic and/or environmental factors driving the ratio. Hand images were collected in N = 238 twins with NDDs or typical development from 70 monozygotic and 49 dizygotic pairs to examine ratios and their associations to DSM-5 defined categorical NDDs, autistic traits, zygosity, and sex...
April 27, 2018: Journal of Autism and Developmental Disorders
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