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Autism etiology

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https://www.readbyqxmd.com/read/29452340/congenital-abnormalities-of-the-male-reproductive-system-and-risk-of-autism-spectrum-disorders
#1
Ran S Rotem, Gabriel Chodick, Michael Davidovitch, Russ Hauser, Brent A Coull, Marc G Weisskopf
Androgens have an extensive influence on brain development in regions of the brain that are relevant for autism spectrum disorder (ASD), yet their etiological involvement remains unclear. Hypospadias (abnormal positioning of the urethral opening) and cryptorchidism (undescended testes) are 2 relatively common male birth defects that are strongly associated with prenatal androgen deficiencies. Having either disorder is a proxy indicator of atypical gestational androgen exposure, yet the association between these disorders and autism has not been extensively studied...
February 14, 2018: American Journal of Epidemiology
https://www.readbyqxmd.com/read/29452336/invited-commentary-male-reproductive-system-congenital-malformations-and-the-risk-of-autism-spectrum-disorder
#2
Laura A Schieve, Stuart K Shapira
Autism spectrum disorder (ASD) is a prevalent developmental disorder. Studies indicate that while ASD etiology has a genetic component, the risk is polygenic, with gene-environment interactions being likely. The prenatal period is a critical exposure window for nongenetic risk factors. Previous studies have found positive associations between congenital malformations (all types) and ASD; a few also found specific associations between genitourinary system malformations and ASD; and one study found an association between hypospadias and ASD...
February 14, 2018: American Journal of Epidemiology
https://www.readbyqxmd.com/read/29445122/deep-phenotyping-of-speech-and-language-skills-in-individuals-with-16p11-2-deletion
#3
Cristina Mei, Evelina Fedorenko, David J Amor, Amber Boys, Caitlyn Hoeflin, Peter Carew, Trent Burgess, Simon E Fisher, Angela T Morgan
Recurrent deletions of a ~600-kb region of 16p11.2 have been associated with a highly penetrant form of childhood apraxia of speech (CAS). Yet prior findings have been based on a small, potentially biased sample using retrospectively collected data. We examine the prevalence of CAS in a larger cohort of individuals with 16p11.2 deletion using a prospectively designed assessment battery. The broader speech and language phenotype associated with carrying this deletion was also examined. 55 participants with 16p11...
February 14, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29432246/evaluation-and-management-of-the-child-with-autism-spectrum-disorder
#4
Nicole Baumer, Sarah J Spence
PURPOSE OF REVIEW: Autism spectrum disorder is a neurodevelopmental disorder defined by deficits in social communication and the presence of restricted and repetitive behaviors and interests. This article provides the tools to diagnose and manage patients with autism spectrum disorder. RECENT FINDINGS: Autism spectrum disorder is a heterogeneous condition with varying presentations, multiple etiologies, and a number of comorbidities that impact the course and management of the disorder...
February 2018: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/29430617/estrogen-receptor-%C3%AE-agonist-attenuates-endoplasmic-reticulum-stress-induced-changes-in-social-behavior-and-brain-connectivity-in-mice
#5
Amanda Crider, Tyler Nelson, Talisha Davis, Kiley Fagan, Kumar Vaibhav, Matthew Luo, Sunay Kamalasanan, Alvin V Terry, Anilkumar Pillai
Impaired social interaction is a key feature of several major psychiatric disorders including depression, autism, and schizophrenia. While, anatomically, the prefrontal cortex (PFC) is known as a key regulator of social behavior, little is known about the cellular mechanisms that underlie impairments of social interaction. One etiological mechanism implicated in the pathophysiology of the aforementioned psychiatric disorders is cellular stress and consequent adaptive responses in the endoplasmic reticulum (ER) that can result from a variety of environmental and physical factors...
February 12, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29427656/gut-microbiota-inflammation-and-probiotics-on-neural-development-in-autism-spectrum-disorder
#6
REVIEW
Ceymi Doenyas
Recent evidence implicates immune alterations and gut microbiota dysbiosis in at least some subpopulations of individuals with autism spectrum disorder (ASD). Immune and gut alterations in ASD have mostly been studied separately, and the reviews and theoretical models up to now have mainly considered the immune system as one of the routes for gut-brain communication. We take a different perspective and consider possible common mechanisms of action for the gut microbiota and inflammation on the neural basis of ASD...
February 7, 2018: Neuroscience
https://www.readbyqxmd.com/read/29427532/a-pilot-study-of-high-dose-intravenous-immunoglobulin-5-for-autism-impact-on-autism-spectrum-and-markers-of-neuroinflammation
#7
Isaac R Melamed, Melinda Heffron, Alessandro Testori, Kellie Lipe
Research has shown that a subset of the autism spectrum disorder (ASD) population presents with immune dysregulation. To explore this topic further, we investigated the efficacy and tolerability of intravenous immunoglobulin (IVIG) infusion in children with ASD. In this study, participants were recruited based on a diagnosis of autistic disorder, Asperger's disorder, or pervasive developmental disorder not otherwise specified. Participants also showed evidence of immune dysfunction based on abnormal levels of specific biomarkers, including CD40 ligand (CD154), lymphocyte stimulation, and T or B cell dysfunction...
February 10, 2018: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29417432/sensory-subtypes-in-preschool-aged-children-with-autism-spectrum-disorder
#8
Scott D Tomchek, Lauren M Little, John Myers, Winnie Dunn
Given the heterogeneity of autism spectrum disorder (ASD), research has investigated how sensory features elucidate subtypes that enhance our understanding of etiology and tailored treatment approaches. Previous studies, however, have not integrated core developmental behaviors with sensory features in investigations of subtypes in ASD. Therefore, we used latent profile analysis to examine subtypes in a preschool aged sample considering sensory processing patterns in combination with social-communication skill, motor performance, and adaptive behavior...
February 7, 2018: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29416695/association-between-hypertensive-disorders-of-pregnancy-and-risk-of-autism-in-offspring-a-systematic-review-and-meta-analysis-of-observational-studies
#9
Ruo-Ting Xu, Qing-Xian Chang, Qi-Qiong Wang, Jian Zhang, Lai-Xin Xia, Nanbert Zhong, Yan-Hong Yu, Mei Zhong, Qi-Tao Huang
Background: Autism spectrum disorder (ASD) is a common severe pervasive neurodevelopmental disorder of undetermined etiology. Environmental exposures, especially pregnancy complications, have been increasingly recognized as a potential risk factor for ASD. Our aim was to (1) systematically evaluate the association between hypertensive disorders of pregnancy (HDP) and the risk of ASD in offspring, (2) specifically draw a subgroup analysis of disease severity in patients with HDP to achieve more sufficient evidence on this issue...
January 2, 2018: Oncotarget
https://www.readbyqxmd.com/read/29413892/mechanisms-of-cortical-differentiation
#10
Lata Adnani, Sisu Han, Saiqun Li, Pierre Mattar, Carol Schuurmans
During fetal and postnatal development, the human brain generates 160 billion neuronal and glial cells, each with precise cellular phenotypes. To effectively manage such a complicated task, intrinsic (e.g., transcription factors) and extrinsic (environmental signals) cues cooperate to regulate the decision by neural progenitors to continue to proliferate or to differentiate. Loss- and gain-of-function studies in the mouse brain have been instrumental in identifying these cues, leading to a fairly well-developed and well-integrated model of neocortical development...
2018: International Review of Cell and Molecular Biology
https://www.readbyqxmd.com/read/29413639/biotin-and-acetazolamide-for-treatment-of-an-unusual-child-with-autism-plus-lack-of-nail-and-hair-growth
#11
Paul J Benke, Michael Duchowny, Dianalee McKnight
BACKGROUND: Patients with autism spectrum disorder and developmental delay or encephalopathy rarely demonstrate no or negligible hair and nail growth, suggesting a biotin-responsive clinical disorder. METHODS: A ten-year-old girl presented with features of autism spectrum disorder, isolated headaches, and episodes of headaches and limb shaking. Her medical history revealed that her hair and nails did not grow. Administration of biotin restored her nail and hair growth and improved intellectual ability and school performance...
February 2018: Pediatric Neurology
https://www.readbyqxmd.com/read/29413155/examining-the-association-between-autistic-traits-and-atypical-sensory-reactivity-a-twin-study
#12
Mark J Taylor, Peik Gustafsson, Henrik Larsson, Christopher Gillberg, Sebastian Lundström, Paul Lichstenstein
OBJECTIVE: Atypical responses to sensory stimuli are common features of autism spectrum disorders (ASD). Consequently, atypical sensory reactivity (SR) is now a diagnostic feature of ASD. Quantitative genetic research on ASD has overlooked these symptoms, however. We therefore investigated the association between autistic traits and SR using twin methods. METHOD: Autistic traits and SR were assessed by 2 separate scales in 12,419 Swedish twin pairs (n = 3,586 monozygotic [MZ], n = 8,833 dizygotic [DZ]) when the twins were 9 or 12 years of age...
February 2018: Journal of the American Academy of Child and Adolescent Psychiatry
https://www.readbyqxmd.com/read/29408620/association-between-shank3-polymorphisms-and-susceptibility-to-autism-spectrum-disorder
#13
Shuang Qiu, Yan Li, Yong Li, Weijing Zhong, Meijuan Shi, Qian Zhao, Kaixin Zhang, Yihan Wang, Meihan Lu, Xiaojuan Zhu, Huiyi Jiang, Yaqin Yu, Yi Cheng, Yawen Liu
Autism spectrum disorder (ASD), as one of neurodevelopmental disorders, affects about 1/160 of people worldwide. The etiology and pathogenesis of ASD remain elusive. Synapses are essential components of neurons and basic information transmission unit in the nervous system, adjusting behavior to environmental stimuli and controlling body functions, memories, and emotions. SHANK3 is one of the synapse genes which play important roles in maintaining synaptic structure and function. SHANK3 has been researched as a probably susceptibility gene for ASD...
February 2, 2018: Gene
https://www.readbyqxmd.com/read/29398935/vaccination-as-a-cause-of-autism-myths-and-controversies
#14
Michael Davidson
Despite significant progress in the study of the epidemiology and genetics of autism, the etiology and patho-physiology of this condition is far from being elucidated and no curative treatment currently exists. Although solid scientific research continues, in an attempt to find explanations and solutions, a number of nonscientific and pure myths about autism have emerged. Myths that vaccines or mercury are associated with autism have been amplified by misguided scientists; frustrated, but effective parent groups; and politicians...
December 2017: Dialogues in Clinical Neuroscience
https://www.readbyqxmd.com/read/29398931/syndromic-autism-spectrum-disorders-moving-from-a-clinically-defined-to-a-molecularly-defined-approach
#15
Bridget A Fernandez, Stephen W Scherer
Autism spectrum disorder (ASD) encompasses a group of neurodevelopmental conditions diagnosed solely on the basis of behavioral assessments that reveal social deficits. Progress has been made in understanding its genetic underpinnings, but most ASD-associated genetic variants, which include copy number variants (CNVs) and mutations in ASD-risk genes, account for no more than 1 % of ASD cases. This high level of genetic heterogeneity leads to challenges obtaining and interpreting genetic testing in clinical settings...
December 2017: Dialogues in Clinical Neuroscience
https://www.readbyqxmd.com/read/29398928/brain-and-behavior-development-in-autism-from-birth-through-infancy
#16
Mark D Shen, Joseph Piven
Autism spectrum disorder (ASD) is a heterogeneous condition that affects 1 in 68 children. Diagnosis is based on the presence of characteristic behavioral impairments that emerge in the second year of life and thus is not typically made until 3 to 4 years of age. Recent studies of early brain and behavior development have provided important new insights into the nature of this condition. Autism-specific brain imaging features have been identified as early as 6 months of age, and age-specific brain and behavior changes have been demonstrated across the first 2 years of life, highlighting the developmental nature of ASD...
December 2017: Dialogues in Clinical Neuroscience
https://www.readbyqxmd.com/read/29397522/relationship-between-absolute-and-relative-ratios-of-glutamate-glutamine-and-gaba-and-severity-of-autism-spectrum-disorder
#17
Hanoof Al-Otaish, Laila Al-Ayadhi, Geir Bjørklund, Salvatore Chirumbolo, Mauricio A Urbina, Afaf El-Ansary
Autism spectrum disorder (ASD) is a neurodevelopmental pathology characterized by an impairment in social interaction, communication difficulties, and repetitive behaviors. Glutamate signaling abnormalities are thought to be considered as major etiological mechanisms leading to ASD. The search for amino-acidic catabolytes related to glutamate in patients with different levels of ASD might help current research to clarify the mechanisms underlying glutamate signaling and its disorders, particularly in relation to ASD...
February 3, 2018: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29391184/reprint-of-reframing-autism-as-a-behavioral-syndrome-and-not-a-specific-mental-disorder-perspectives-from-a-literature-review
#18
REVIEW
S Tordjman, D Cohen, N Coulon, G M Anderson, M Botbol, P L Roubertoux
Clinical and molecular genetics have advanced current knowledge on genetic disorders associated with autism. A review of diverse genetic disorders associated with autism is presented and for the first time discussed extensively with regard to possible common underlying mechanisms leading to a similar cognitive-behavioral phenotype of autism. The possible role of interactions between genetic and environmental factors, including epigenetic mechanisms, is in particular examined. Finally, the pertinence of distinguishing non-syndromic autism (isolated autism) from syndromic autism (autism associated with genetic disorders) will be reconsidered...
January 29, 2018: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/29376397/associations-between-parental-broader-autism-phenotype-and-child-autism-spectrum-disorder-phenotype-in-the-study-to-explore-early-development
#19
Eric Rubenstein, Lisa D Wiggins, Laura A Schieve, Chyrise Bradley, Carolyn DiGuiseppi, Eric Moody, Juhi Pandey, Rebecca Edmondson Pretzel, Annie Green Howard, Andrew F Olshan, Brian W Pence, Julie Daniels
The autism spectrum disorder phenotype varies by social and communication ability and co-occurring developmental, behavioral, and medical conditions. Etiology is also diverse, with myriad potential genetic origins and environmental risk factors. Examining the influence of parental broader autism phenotype-a set of sub-clinical characteristics of autism spectrum disorder-on child autism spectrum disorder phenotypes may help reduce heterogeneity in potential genetic predisposition for autism spectrum disorder...
January 1, 2018: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/29366832/two-de-novo-variations-identified-by-massively-parallel-sequencing-in-13-chinese-families-with-children-diagnosed-with-autism-spectrum-disorder
#20
Shi-Jun Li, Shan-Shan Yu, Hong-Yu Luo, Xin Li, Bin Rao, Yi Wang, Zhen-Zhen Li, Gang Liu, Li-Ping Zou, Ji-Shui Zhang, Chen Feng, Jing Liu, Jian-Wei Liu, Nan Hu, Xiao-Qiao Chen, Sheng-Yuan Yu, Ke Li, Mian-Wang He, Xin-Guang Yu, Jun Wang, Sheng-Li Guo, Zhi-Ye Chen, Lei Zhang, Lin Ma
Autism spectrum disorder (ASD) is a genetically heterogeneous neurodevelopmental disorder characterized by impairments in social interaction and communication, and by restricted and repetitive behaviors. The genetic architecture of ASD has been elucidated, including chromosomal rearrangements, de novo or inherited rare variants, and copy number variants. However, the genetic mechanism of Chinese families with ASD children is explored rarely. To identify genetic pathogenesis, we performed massively parallel sequencing on 13 Chinese ASD trio families, and found two de novo variations...
January 21, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
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