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Autism etiology

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https://www.readbyqxmd.com/read/29028941/dysregulation-of-cortical-neuron-dna-methylation-profile-in-autism-spectrum-disorder
#1
Stefano Nardone, Dev Sharan Sams, Antonino Zito, Eli Reuveni, Evan Elliott
Autism Spectrum Disorder (ASD) is a complex neuropsychiatric syndrome whose etiology includes genetic and environmental components. Since epigenetic marks are sensitive to environmental insult, they may be involved in the development of ASD. Initial brain studies have suggested a dysregulation of epigenetic marks in ASD. However, due to cellular heterogeneity in the brain, these studies have not determined if there is a true change in the neuronal epigenetic signature. Here, we report a genome-wide methylation study on fluorescence-activated cell sorting-sorted neuronal nuclei from the frontal cortex of 16 male ASD and 15 male control subjects...
September 28, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28972157/transcriptome-analysis-reveals-determinant-stages-controlling-human-embryonic-stem-cell-commitment-to-neuronal-cells
#2
Yuanyuan Li, Ran Wang, Nan Qiao, Guangdun Peng, Ke Zhang, Ke Tang, Jing-Dong J Han, Naihe Jing
Proper neural commitment is essential for ensuring the appropriate development of the human brain and for preventing neurodevelopmental diseases such as autism spectrum disorders, schizophrenia, and intellectual disorders. However, the molecular mechanisms underlying the neural commitment in humans remain elusive. Here, we report the establishment of a neural differentiation system based on human embryonic stem cells (hESCs) and on comprehensive RNA-Seq analysis of transcriptome dynamics during early hESC differentiation...
September 26, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28968847/multidimensional-neuroanatomical-subtyping-of-autism-spectrum-disorder
#3
Seok-Jun Hong, Sofie L Valk, Adriana Di Martino, Michael P Milham, Boris C Bernhardt
Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders with multiple biological etiologies and highly variable symptoms. Using a novel analytical framework that integrates cortex-wide MRI markers of vertical (i.e., thickness, tissue contrast) and horizontal (i.e., surface area, geodesic distance) cortical organization, we could show that a large multi-centric cohort of individuals with ASD falls into 3 distinctive anatomical subtypes (ASD-I: cortical thickening, increased surface area, tissue blurring; ASD-II: cortical thinning, decreased distance; ASD-III: increased distance)...
September 14, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28965761/genomic-patterns-of-de-novo-mutation-in-simplex-autism
#4
Tychele N Turner, Bradley P Coe, Diane E Dickel, Kendra Hoekzema, Bradley J Nelson, Michael C Zody, Zev N Kronenberg, Fereydoun Hormozdiari, Archana Raja, Len A Pennacchio, Robert B Darnell, Evan E Eichler
To further our understanding of the genetic etiology of autism, we generated and analyzed genome sequence data from 516 idiopathic autism families (2,064 individuals). This resource includes >59 million single-nucleotide variants (SNVs) and 9,212 private copy number variants (CNVs), of which 133,992 and 88 are de novo mutations (DNMs), respectively. We estimate a mutation rate of ∼1.5 × 10(-8) SNVs per site per generation with a significantly higher mutation rate in repetitive DNA. Comparing probands and unaffected siblings, we observe several DNM trends...
September 27, 2017: Cell
https://www.readbyqxmd.com/read/28965590/the-association-between-mercury-levels-and-autism-spectrum-disorders-a-systematic-review-and-meta-analysis
#5
Tina Jafari, Noushin Rostampour, Aziz A Fallah, Afshin Hesami
BACKGROUND & AIMS: The relationship between mercury and autism spectrum disorders (ASD) has always been a topic of controversy among researchers. This study aimed to assess the relationship between ASD and mercury levels in hair, urine, blood, red blood cells (RBC), and brain through a meta-analysis. METHODS: A systematic search was performed in several databases including PubMed, ISI Web of Science, Cochrane register of controlled trials, Google Scholar, Scopus, and MagIran until June 2017...
December 2017: Journal of Trace Elements in Medicine and Biology
https://www.readbyqxmd.com/read/28948971/purinergic-system-in-psychiatric-diseases
#6
REVIEW
A Cheffer, A R G Castillo, J Corrêa-Velloso, M C B Gonçalves, Y Naaldijk, I C Nascimento, G Burnstock, H Ulrich
Psychiatric disorders are debilitating diseases, affecting >80 million people worldwide. There are no causal cures for psychiatric disorders and available therapies only treat the symptoms. The etiology of psychiatric disorders is unknown, although it has been speculated to be a combination of environmental, stress and genetic factors. One of the neurotransmitter systems implicated in the biology of psychiatric disorders is the purinergic system. In this review, we performed a comprehensive search of the literature about the role and function of the purinergic system in the development and predisposition to psychiatric disorders, with a focus on depression, schizophrenia, bipolar disorder, autism, anxiety and attention deficit/hyperactivity disorder...
September 26, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28941239/genetics-and-epigenetics-of-autism-review
#7
REVIEW
Mary Miu Yee Waye, Ho Yu Cheng
Autism is a developmental disorder that starts before age 3, and children with autism has impairment in both social interaction and communication, and has restricted, repetitive and stereotyped patterns of behavior, interests and activities. There is a strong heritable component of autism and autism spectrum disorder as studies have shown that parents who have a child with ASD have a 2-18% chance of having a second child with ASD. Since the prevalence of autism and autism spectrum disorders have been increasing during the last 3 decades, much research has been carried out to understand the etiology, so as to develop novel preventive and treatment strategies...
September 23, 2017: Psychiatry and Clinical Neurosciences
https://www.readbyqxmd.com/read/28941101/schizophrenia-and-the-neurodevelopmental-continuum-evidence-from-genomics
#8
Michael J Owen, Michael C O'Donovan
The idea that disturbances occurring early in brain development contribute to the pathogenesis of schizophrenia, often referred to as the neurodevelopmental hypothesis, has become widely accepted. Despite this, the disorder is viewed as being distinct nosologically, and by implication pathophysiologically and clinically, from syndromes such as autism spectrum disorders, attention-deficit/hyperactivity disorder (ADHD) and intellectual disability, which typically present in childhood and are grouped together as "neurodevelopmental disorders"...
October 2017: World Psychiatry: Official Journal of the World Psychiatric Association (WPA)
https://www.readbyqxmd.com/read/28936814/-the-role-of-molecular-karyotyping-in-the-genetic-etiology-of-autism
#9
Burcu Özbaran, Bilçağ Akgün, Duygu Kaçamak, Sezen Köse, Ayşenur Kavasoğlu, Hüseyin Onay
OBJECTIVE: The aim of this study was to investigate the deletions and duplications with a molecular karyotyping technique and to elucidate the etiology of autism. METHOD: A total of 31 patients (20 boys and 11 girls) between 4 to 18 years old with normal chromosomal analysis and no Fragile X mutation were diagnosed in the Ege University Child and Adolescent Psychiatry Clinic with autism (according to DSM-IV-TR criteria) and were enrolled in the study. Symptom severity of the patients was evaluated with a Childhood Autism Rating Scale...
2017: Türk Psikiyatri Dergisi, Turkish Journal of Psychiatry
https://www.readbyqxmd.com/read/28921840/the-role-of-cadherin-genes-in-five-major-psychiatric-disorders-a-literature-update
#10
REVIEW
Ziarih Hawi, Janette Tong, Callum Dark, Hannah Yates, Beth Johnson, Mark A Bellgrove
Converging evidence from candidate gene, genome-wide linkage, and association studies support a role of cadherins in the pathophysiology of five major psychiatric disorders including attention deficit hyperactivity disorder, autism spectrum disorder (ASD), schizophrenia (SCZ), bipolar disorder (BD), and major depressive disorder (MDD). These molecules are transmembrane proteins which act as cell adhesives by forming adherens junctions (AJs) to bind cells within tissues. Members of the cadherin superfamily are also involved in biological processes such as signal transduction and plasticity that have been implicated in the etiology of major psychiatric conditions...
September 18, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28921757/the-neurobiological-bases-of-autism-spectrum-disorders-the-r451c-neuroligin-3-mutation-hampers-the-expression-of-long-term-synaptic-depression-in-the-dorsal-striatum
#11
Giuseppina Martella, Maria Meringolo, Laura Trobiani, Antonella De Jaco, Antonio Pisani, Paola Bonsi
Autism spectrum disorders (ASDs) comprise a heterogeneous group of disorders with a complex genetic etiology. Current theories on the pathogenesis of ASDs suggest that they might arise from an aberrant synaptic transmission affecting specific brain circuits and synapses. The striatum, which is part of the basal ganglia circuit, is one of the brain regions involved in ASDs. Mouse models of ASDs have provided evidence for an imbalance between excitatory and inhibitory neurotransmission. Here we investigated the expression of long-term synaptic plasticity at corticostriatal glutamatergic synapses in the dorsal striatum of the R451C-NL3 phenotypic mouse model of autism...
September 16, 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/28921675/altered-cav1-2-function-in-the-timothy-syndrome-mouse-model-produces-ascending-serotonergic-abnormalities
#12
Daniel G Ehlinger, Kathryn G Commons
Polymorphism in the gene CACNA1C, encoding the pore-forming subunit of Cav1.2 L-type calcium channels, has one of the strongest genetic linkages to schizophrenia, bipolar disorder and major depressive disorder: psychopathologies in which serotonin signaling has been implicated. Additionally, a gain-of-function mutation in CACNA1C is responsible for the neurodevelopmental disorder Timothy syndrome that presents with prominent behavioral features on the autism spectrum. Given an emerging role for serotonin in the etiology of autism spectrum disorders (ASD), we investigate the relationship between Cav1...
October 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/28899869/autism-like-behavior-caused-by-deletion-of-vaccinia-related-kinase-3-is-improved-by-trkb-stimulation
#13
Myung-Su Kang, Tae-Yong Choi, Hye Guk Ryu, Dohyun Lee, Seung-Hyun Lee, Se-Young Choi, Kyong-Tai Kim
Vaccinia-related kinases (VRKs) are multifaceted serine/threonine kinases that play essential roles in various aspects of cell signaling, cell cycle progression, apoptosis, and neuronal development and differentiation. However, the neuronal function of VRK3 is still unknown despite its etiological potential in human autism spectrum disorder (ASD). Here, we report that VRK3-deficient mice exhibit typical symptoms of autism-like behavior, including hyperactivity, stereotyped behaviors, reduced social interaction, and impaired context-dependent spatial memory...
October 2, 2017: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28891930/vitamin-d-receptor-gene-polymorphisms-associated-with-childhood-autism
#14
Anna Cieślińska, Elżbieta Kostyra, Barbara Chwała, Małgorzata Moszyńska-Dumara, Ewa Fiedorowicz, Małgorzata Teodorowicz, Huub F J Savelkoul
BACKGROUND: Autism spectrum disorder (ASD) is a group of heterogeneous, behaviorally defined disorders whereby currently no biological markers are common to all affected individuals. A deregulated immune response may be contributing to the etiology of ASD. The active metabolite of vitamin D₃ has an immunoregulatory role mediated by binding to the vitamin D receptor (VDR) in monocyte, macrophages, and lymphocytes. The effects of vitamin D and interaction with the VDR may be influenced by polymorphism in the VDR gene...
September 9, 2017: Brain Sciences
https://www.readbyqxmd.com/read/28883746/clinical-impact-of-early-diagnosis-of-autism-on-the-prognosis-and-parent-child-relationships
#15
REVIEW
Jennifer Harrison Elder, Consuelo Maun Kreider, Susan N Brasher, Margaret Ansell
Autism spectrum disorder (ASD) refers to a lifelong condition that usually appears in late infancy or early childhood, and is characterized by social and communication deficits that impede optimal functioning. Despite widespread research and greater public awareness, ASD has an unclear etiology and no known cure, making it difficult to acquire accurate and timely diagnoses. In addition, once an ASD diagnosis is made, parents find it challenging to navigate the healthcare system and determine which interventions are most effective and appropriate for their child...
2017: Psychology Research and Behavior Management
https://www.readbyqxmd.com/read/28870634/dendritic-spine-actin-cytoskeleton-in-autism-spectrum-disorder
#16
REVIEW
Merja Joensuu, Vanessa Lanoue, Pirta Hotulainen
Dendritic spines are small actin-rich protrusions from neuronal dendrites that form the postsynaptic part of most excitatory synapses. Changes in the shape and size of dendritic spines correlate with the functional changes in excitatory synapses and are heavily dependent on the remodeling of the underlying actin cytoskeleton. Recent evidence implicates synapses at dendritic spines as important substrates of pathogenesis in neuropsychiatric disorders, including autism spectrum disorder (ASD). Although synaptic perturbations are not the only alterations relevant for these diseases, understanding the molecular underpinnings of the spine and synapse pathology may provide insight into their etiologies and could reveal new drug targets...
September 1, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28841651/functional-significance-of-rare-neuroligin-1-variants-found-in-autism
#17
Moe Nakanishi, Jun Nomura, Xiao Ji, Kota Tamada, Takashi Arai, Eiki Takahashi, Maja Bućan, Toru Takumi
Genetic mutations contribute to the etiology of autism spectrum disorder (ASD), a common, heterogeneous neurodevelopmental disorder characterized by impairments in social interaction, communication, and repetitive and restricted patterns of behavior. Since neuroligin3 (NLGN3), a cell adhesion molecule at the neuronal synapse, was first identified as a risk gene for ASD, several additional variants in NLGN3 and NLGN4 were found in ASD patients. Moreover, synaptopathies are now known to cause several neuropsychiatric disorders including ASD...
August 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28816000/investigating-facial-phenotype-in-autism-spectrum-conditions-the-importance-of-a-hypothesis-driven-approach
#18
Maryam Boutrus, Murray T Maybery, Gail A Alvares, Diana Weiting Tan, Kandice J Varcin, Andrew J O Whitehouse
Atypical facial characteristics have been observed in many disorders associated with developmental disability. While autism spectrum conditions (ASC) have not previously been thought to be associated with a distinct facial phenotype, an emerging research literature is casting doubt on this assumption. The identification of differences in the facial phenotype of individuals with ASC may contribute to efforts to promote early identification of the condition and help elucidate etiological pathways. With the aim of identifying facial phenotypes associated with ASC, this commentary evaluated facial features purported to distinguish ASC from typical development...
August 17, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28808839/individuals-with-autism-have-higher-8-iso-pgf2%C3%AE-levels-than-controls-but-no-correlation-with-quantitative-assay-of-paraoxonase-1-serum-levels
#19
Bianca Pop, Alexandru-Ștefan Niculae, Tudor Lucian Pop, Andreea Liana Răchișan
Autism spectrum disorder (ASD) represents a very large set of neurodevelopmental issues with diverse clinical outcomes. Various hypotheses have been put forth for the etiology of autism spectrum disorder, including issues pertaining to oxidative stress. In this study, we conducted measurements of serum 8-Iso-Prostaglanding F2 α (8-iso-PGF2α, which is the results of non-enzimatically mediated polyunsaturated fatty acid oxidation) in a population of individuals with autism and a control group of age and sex matched controls...
August 14, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28803755/communicating-complex-genomic-information-a-counselling-approach-derived-from-research-experience-with-autism-spectrum-disorder
#20
Ny Hoang, Cheryl Cytrynbaum, Stephen W Scherer
Individuals with Autism Spectrum Disorder (ASD) share characteristics (impairments in socialization and communication, and repetitive interests and behaviour), but differ in their developmental course, pattern of symptoms, and cognitive and language abilities. The development of standardized phenotyping has revealed ASD to clinically be vastly heterogeneous, ranging from milder presentations to more severe forms associated with profound intellectual disability. Some 100 genes have now been implicated in the etiology of ASD, and advances in genome-wide testing continue to yield new data at an unprecedented rate...
July 29, 2017: Patient Education and Counseling
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