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https://www.readbyqxmd.com/read/29915927/toward-a-phenomenological-account-of-embodied-subjectivity-in-autism
#1
Sofie Boldsen
Sensorimotor research is currently challenging the dominant understanding of autism as a deficit in the cognitive ability to 'mindread'. This marks an emerging shift in autism research from a focus on the structure and processes of the mind to a focus on autistic behavior as grounded in the body. Contemporary researchers in sensorimotor differences in autism call for a reconciliation between the scientific understanding of autism and the first-person experience of autistic individuals. I argue that fulfilling this ambition requires a phenomenological understanding of the body as it presents itself in ordinary experience, namely as the subject of experience rather than a physical object...
June 18, 2018: Culture, Medicine and Psychiatry
https://www.readbyqxmd.com/read/29914349/social-skills-in-children-with-rasopathies-a-comparison-of-noonan-syndrome-and-neurofibromatosis-type-1
#2
Elizabeth I Pierpont, Rebekah L Hudock, Allison M Foy, Margaret Semrud-Clikeman, Mary Ella Pierpont, Susan A Berry, Ryan Shanley, Nathan Rubin, Katherine Sommer, Christopher L Moertel
BACKGROUND: Gene mutations within the RAS-MAPK signaling cascade result in Noonan syndrome (NS), neurofibromatosis type 1 (NF1), and related disorders. Recent research has documented an increased risk for social difficulties and features of autism spectrum disorder (ASD) among children with these conditions. Despite this emerging evidence, the neuropsychological characteristics associated with social skills deficits are not well understood, particularly for children with NS. METHODS: Parents of children with NS (n = 39), NF1 (n = 39), and unaffected siblings (n = 32) between the ages of 8 and 16 years were administered well-validated caregiver questionnaires assessing their child's social skills, language abilities, attention-deficit hyperactivity disorder (ADHD) symptoms and anxiety...
June 18, 2018: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29912442/eqtls-weighted-genetic-correlation-analysis-detected-brain-region-differences-in-genetic-correlations-for-complex-psychiatric-disorders
#3
Yan Wen, Feng Zhang, Xiancang Ma, Qianrui Fan, Wenyu Wang, Jiawen Xu, Feng Zhu, Jingcan Hao, Awen He, Li Liu, Xiao Liang, Yanan Du, Ping Li, Cuiyan Wu, Sen Wang, Xi Wang, Yujie Ning, Xiong Guo
Background: Psychiatric disorders are usually caused by the dysfunction of various brain regions. Incorporating the genetic information of brain regions into correlation analysis can provide novel clues for pathogenetic and therapeutic studies of psychiatric disorders. Methods: The latest genome-wide association study (GWAS) summary data of schizophrenia (SCZ), bipolar disorder (BIP), autism spectrum disorder (AUT), major depression disorder (MDD), and attention-deficit/hyperactivity disorder (ADHD) were obtained from the Psychiatric GWAS Consortium (PGC)...
June 15, 2018: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/29909776/the-evolution-of-a-series-of-behavioral-traits-is-associated-with-autism-risk-genes-in-cavefish
#4
Masato Yoshizawa, Alexander Settle, Meredith C Hermosura, Lillian J Tuttle, Nicolas Cetraro, Courtney N Passow, Suzanne E McGaugh
BACKGROUND: An essential question in evolutionary biology is whether shifts in a set of polygenic behaviors share a genetic basis across species. Such a behavioral shift is seen in the cave-dwelling Mexican tetra, Astyanax mexicanus. Relative to surface-dwelling conspecifics, cavefish do not school (asocial), are hyperactive and sleepless, adhere to a particular vibration stimulus (imbalanced attention), behave repetitively, and show elevated stress hormone levels. Interestingly, these traits largely overlap with the core symptoms of human autism spectrum disorder (ASD), raising the possibility that these behavioral traits are underpinned by a similar set of genes (i...
June 18, 2018: BMC Evolutionary Biology
https://www.readbyqxmd.com/read/29907738/epigenetic-regulation-of-the-oxytocin-receptor-is-associated-with-neural-response-during-selective-social-attention
#5
Meghan H Puglia, Jessica J Connelly, James P Morris
Aberrant attentional biases to social stimuli have been implicated in a number of disorders including autism and social anxiety disorder. Oxytocin, a naturally-occurring mammalian hormone and neuromodulator involved in regulating social behavior, has been proposed to impact basic biological systems that facilitate the detection of and orientation to social information. Here, we investigate a role for naturally-occurring variability in the endogenous oxytocinergic system in regulating neural response during attention to social information...
June 15, 2018: Translational Psychiatry
https://www.readbyqxmd.com/read/29904576/genomics-of-autism-spectrum-disorder-approach-to-therapy
#6
REVIEW
Fatma Ayhan, Genevieve Konopka
Autism spectrum disorder (ASD) is a highly prevalent neurodevelopmental condition with no current treatment available. Although advances in genetics and genomics have identified hundreds of genes associated with ASD, very little is known about the pathophysiology of ASD and the functional contribution of specific genes to ASD phenotypes. Improved understanding of the biological function of ASD-associated genes and how this heterogeneous group of genetic variants leads to the disease is needed in order to develop therapeutic strategies...
2018: F1000Research
https://www.readbyqxmd.com/read/29904178/the-phenotypic-spectrum-of-proximal-6q-deletions-based-on-a-large-cohort-derived-from-social-media-and-literature-reports
#7
Aafke Engwerda, Barbara Frentz, A Lya den Ouden, Boudien C T Flapper, Morris A Swertz, Erica H Gerkes, Mirjam Plantinga, Trijnie Dijkhuizen, Conny M A van Ravenswaaij-Arts
Proximal 6q (6q11-q15) deletions are extremely rare and little is known about their phenotypic consequences. Since parents and caregivers now use social media to seek information on rare disorders, the Chromosome 6 Project has successfully collaborated with a Facebook group to collect data on individuals worldwide. Here we describe a cohort of 20 newly identified individuals and 25 literature cases with a proximal 6q deletion. Microarray results and phenotype data were reported directly by parents via a multilingual online questionnaire...
June 8, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29899718/analogical-reasoning-in-children-with-autism-spectrum-disorder-evidence-from-an-eye-tracking-approach
#8
Enda Tan, Xueyuan Wu, Tracy Nishida, Dan Huang, Zhe Chen, Li Yi
The present study examined analogical reasoning in children with autism spectrum disorder (ASD) and its relationship with cognitive and executive functioning and processing strategies. Our findings showed that although children with ASD were less competent in solving analogical problems than typically developing children, this inferior performance was attributable to general cognitive impairments. Eye-movement analyses revealed that children with ASD paid less attention to relational items and showed fewer gaze shifts between relational locations...
2018: Frontiers in Psychology
https://www.readbyqxmd.com/read/29899371/a-heterozygous-microdeletion-of-20q13-13-encompassing-adnp-gene-in-a-child-with-helsmoortel-van-der-aa-syndrome
#9
Minh-Tuan Huynh, Elise Boudry-Labis, Alfred Massard, Caroline Thuillier, Bruno Delobel, Bénédicte Duban-Bedu, Catherine Vincent-Delorme
Helsmoortel-van der Aa (SWI/SNF autism-related or ADNP syndrome) is an autosomal dominant monogenic syndrome caused by de novo variants in the last exon of ADNP gene and no deletions have been documented to date. We report the first case of a 3 years and 10 months old boy exhibiting typical features of ADNP syndrome, including intellectual disability, autistic traits, facial dysmorphism, hyperlaxity, mood disorder, behavioral problems, and severe chronic constipation. 60K Agilent array-comparative genomic hybridization (CGH) identified a heterozygous interstitial microdeletion at 20q13...
June 13, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29898212/association-of-autistic-traits-with-depression-from-childhood-to-age-18-years
#10
Dheeraj Rai, Iryna Culpin, Hein Heuvelman, Cecilia M K Magnusson, Peter Carpenter, Hannah J Jones, Alan M Emond, Stanley Zammit, Jean Golding, Rebecca M Pearson
Importance: Population-based studies following trajectories of depression in autism spectrum disorders (ASD) from childhood into early adulthood are rare. The role of genetic confounding and of potential environmental intermediaries, such as bullying, in any associations is unclear. Objectives: To compare trajectories of depressive symptoms from ages 10 to 18 years for children with or without ASD and autistic traits, to assess associations between ASD and autistic traits and an International Statistical Classification of Diseases, 10th Revision (ICD-10) depression diagnosis at age 18 years, and to explore the importance of genetic confounding and bullying...
June 13, 2018: JAMA Psychiatry
https://www.readbyqxmd.com/read/29896127/white-matter-features-associated-with-autistic-traits-in-obsessive-compulsive-disorder
#11
Masaru Kuno, Yoshiyuki Hirano, Akiko Nakagawa, Kenichi Asano, Fumiyo Oshima, Sawako Nagaoka, Koji Matsumoto, Yoshitada Masuda, Masaomi Iyo, Eiji Shimizu
Obsessive-compulsive disorder (OCD) is among the most debilitating psychiatric disorders. Comorbid autism spectrum disorder (ASD) or autistic traits may impair treatment response in OCD. To identify possible neurostructural deficits underlying autistic traits, we performed white matter tractography on diffusion tensor images (DTI) and assessed autistic trait severity using the Autism-Spectrum Quotient (AQ) in 33 OCD patients. Correlations between AQ and the DTI parameters, fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD), and radial diffusivity (RD) were examined in major white matter tracts that were suggested to be altered in previous OCD studies...
2018: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/29896124/-immune-gate-of-psychopathology-the-role-of-gut-derived-immune-activation-in-major-psychiatric-disorders
#12
REVIEW
Leszek Rudzki, Agata Szulc
Interaction between the gastrointestinal tract (GI) and brain functions has recently become a topic of growing interest in psychiatric research. These multidirectional interactions take place in the so-called gut-brain axis or more precisely, the microbiota-gut-brain axis. The GI tract is the largest immune organ in the human body and is also the largest surface of contact with the external environment. Its functions and permeability are highly influenced by psychological stress, which are often a precipitating factor in the first episode, reoccurrence and/or deterioration of symptoms of psychiatric disorders...
2018: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/29892214/exploratory-study-of-rtms-neuromodulation-effects-on-electrocortical-functional-measures-of-performance-in-an-oddball-test-and-behavioral-symptoms-in-autism
#13
Estate M Sokhadze, Eva V Lamina, Emily L Casanova, Desmond P Kelly, Ioan Opris, Allan Tasman, Manuel F Casanova
There is no accepted pathology to autism spectrum disorders (ASD) but research suggests the presence of an altered excitatory/inhibitory (E/I) bias in the cerebral cortex. Repetitive transcranial magnetic stimulation (rTMS) offers a non-invasive means of modulating the E/I cortical bias with little in terms of side effects. In this study, 124 high functioning ASD children (IQ > 80, <18 years of age) were recruited and assigned using randomization to either a waitlist group or one of three different number of weekly rTMS sessions (i...
2018: Frontiers in Systems Neuroscience
https://www.readbyqxmd.com/read/29892074/impaired-hippocampal-representation-of-place-in-the-fmr1-knockout-mouse-model-of-fragile-x-syndrome
#14
Tara Arbab, Cyriel M A Pennartz, Francesco P Battaglia
Fragile X syndrome (FXS) is an X-chromosome linked intellectual disability and the most common known inherited single gene cause of autism spectrum disorder (ASD). Building upon demonstrated deficits in neuronal plasticity and spatial memory in FXS, we investigated how spatial information processing is affected in vivo in an FXS mouse model (Fmr1-KO). Healthy hippocampal neurons (so-called place cells) exhibit place-related activity during spatial exploration, and their firing fields tend to remain stable over time...
June 11, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29891061/epigenetic-cerebellar-diseases
#15
Mercedes Serrano
Epigenetics is a growing field of knowledge that is changing our understanding of pathologic processes. For many cerebellar disorders, recent discoveries of epigenetic mechanisms help us to understand their pathophysiology. In this chapter, a short explanation of each epigenetic mechanism (including methylation, histone modification, and miRNA) is followed by references to those cerebellar disorders in which relevant epigenetic advances have been made. The importance of normal timing and distribution of methylation during neurodevelopment is explained...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29887806/victimization-and-perpetration-experiences-of-adults-with-autism
#16
Jonathan A Weiss, Michelle A Fardella
This study aimed to describe the self-reported experiences of childhood and adult victimization and perpetration in adults with autism spectrum conditions (ASC) compared to a matched sample, and how victimization and perpetration are associated with autism-related difficulties. Forty-five adults with ASC and 42 adults without ASC completed questionnaires regarding violence victimization and perpetration, emotion regulation, and sociocommunicative competence. Participants with ASC reported experiencing, as children, more overall victimization; specifically, more property crime, maltreatment, teasing/emotional bullying, and sexual assault by peers, compared to participants without ASC...
2018: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/29887513/-sensory-modulation-disorders-and-impairments-in-adaptative-skills-in-autism-spectrum-disorders
#17
P Giacardy, M Viellard, C Chatel, E Jourdan, E Avenel, S Elissalde, P Grandgeorge, V Murdymootoo, J Guivarch, L Boyer, F Poinso
INTRODUCTION: People suffering from autism spectrum disorders (ASD) provide atypical responses to sensorial stimulations, indicating specific sensory processing. These responses vary from one another and within the same individual with ASD, resulting in maladaptive functional capacities in everyday life. Factors explaining those specificities are poorly defined and need to be better identified. OBJECTIVES: To examine the relationship between sensory modulation symptoms (SMSs) and maladaptive behaviors in a group of children with ASD...
June 7, 2018: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29886439/shared-decision-making-for-people-living-with-dementia-in-extended-care-settings-a-systematic-review
#18
Rachel Louise Daly, Frances Bunn, Claire Goodman
BACKGROUND: Shared decision-making is recognised as an important element of person-centred dementia care. OBJECTIVES: The aim of this review was to explore how people living with dementia and cognitive impairment can be included in day-to-day decisions about their health and care in extended care settings. DESIGN: A systematic review including primary research relating to shared decision-making, with cognitively impaired adults in (or transferrable to) extended care settings...
June 9, 2018: BMJ Open
https://www.readbyqxmd.com/read/29884819/elevated-protein-concentrations-in-newborn-blood-and-the-risks-of-autism-spectrum-disorder-and-of-social-impairment-at-age-10-years-among-infants-born-before-the-28th-week-of-gestation
#19
Steven J Korzeniewski, Elizabeth N Allred, T Michael O'Shea, Alan Leviton, Karl C K Kuban
Among the 1 of 10 children who are born preterm annually in the United States, 6% are born before the third trimester. Among children who survive birth before the 28th week of gestation, the risks of autism spectrum disorder (ASD) and non-autistic social impairment are severalfold higher than in the general population. We examined the relationship between top quartile inflammation-related protein concentrations among children born extremely preterm and ASD or, separately, a high score on the Social Responsiveness Scale (SRS total score ≥65) among those who did not meet ASD criteria, using information only from the subset of children whose DAS-II verbal or non-verbal IQ was ≥70, who were assessed for ASD, and who had proteins measured in blood collected on ≥2 days (N = 763)...
June 8, 2018: Translational Psychiatry
https://www.readbyqxmd.com/read/29879582/genetic-testing-and-autism-tutorial-for-communication-sciences-and-disorders
#20
Laura S DeThorne, Stephanie Ceman
This tutorial provides professionals in communication sciences and disorders with an overview of the molecular basis and parental perceptions of genetic testing as associated with autism. The introduction notes the prominence of genetic testing within present-day medical practices and highlights related limitations and concerns through the lens of disability critique. The body of the tutorial provides an overview of four different forms of genetic variation, highlighting the potential associations with autism and available genetic testing...
May 28, 2018: Journal of Communication Disorders
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