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Autism etiology

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https://www.readbyqxmd.com/read/27900342/cacna1c-protecting-young-hippocampal-neurons-in-the-adult-brain
#1
Héctor De Jesús-Cortés, Anjali M Rajadhyaksha, Andrew A Pieper
Neuropsychiatric disease is the leading cause of disability in the United States, and fourth worldwide.(1,2) Not surprisingly, human genetic studies have revealed a common genetic predisposition for many forms of neuropsychiatric disease, potentially explaining why overlapping symptoms are commonly observed across multiple diagnostic categories. For example, the CACNA1C gene was recently identified in the largest human genome-wide association study to date as a risk loci held in common across 5 major forms of neuropsychiatric disease: bipolar disorder, schizophrenia, major depressive disorder (MDD), autism spectrum disorder and attention deficit-hyperactivity disorder...
2016: Neurogenesis (Austin, Tex.)
https://www.readbyqxmd.com/read/27897003/de-novo-mutations-in-autism-implicate-the-synaptic-elimination-network
#2
Guhan Ram Venkataraman, Chloe O'Connell, Fumiko Egawa, Dorna Kashef-Haghighi, Dennis P Wall
Autism has been shown to have a major genetic risk component; the architecture of documented autism in families has been over and again shown to be passed down for generations. While inherited risk plays an important role in the autistic nature of children, de novo (germline) mutations have also been implicated in autism risk. Here we find that autism de novo variants verified and published in the literature are Bonferroni-significantly enriched in a gene set implicated in synaptic elimination. Additionally, several of the genes in this synaptic elimination set that were enriched in protein-protein interactions (CACNA1C, SHANK2, SYNGAP1, NLGN3, NRXN1, and PTEN) have been previously confirmed as genes that confer risk for the disorder...
2016: Pacific Symposium on Biocomputing
https://www.readbyqxmd.com/read/27895198/autism-and-reactive-attachment-disinhibited-social-engagement-disorders-co-occurrence-and-differentiation
#3
Susan Dickerson Mayes, Susan L Calhoun, Daniel A Waschbusch, Raman Baweja
DSM-5 (Diagnostic and Statistical Manual of Mental Disorders, 5th edition) Reactive Attachment Disorder (RAD) and Disinhibited Social Engagement Disorder (DSED) are rare disorders sharing social difficulties with autism. The DSM-5 and ICD-10 (International Classification of Diseases, 10th revsion) state that RAD/DSED should not be diagnosed in children with autism. The purpose of our study is to determine whether children can meet criteria for both autism and RAD/DSED and to identify specific symptoms discriminating the disorders...
November 28, 2016: Clinical Child Psychology and Psychiatry
https://www.readbyqxmd.com/read/27890788/genetic-testing-among-spanish-pediatric-neurologists-knowledge-attitudes-and-practices
#4
J Domínguez-Carral, J López-Pisón, A Macaya, M Bueno Campaña, M A García-Pérez, D Natera-de Benito
Advances in genetic testing applied to child neurology have enabled the development of genetic tests with greater sensitivity in elucidating an etiologic diagnosis for common neurological conditions. The objective of the current study was to examine child neurologists' perspectives and insights into genetic testing. We surveyed 118 Spanish child neurologists, exploring their knowledge, attitudes, and practices concerning genetic tests. All of them had requested at least one genetic test in the past six months...
November 25, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27885946/epilepsy-surgery-in-patients-with-autism
#5
Malgosia A Kokoszka, Patricia E McGoldrick, Maite La Vega-Talbott, Hillary Raynes, Christina A Palmese, Steven M Wolf, Cynthia L Harden, Saadi Ghatan
OBJECTIVE The purpose of this study was to report outcomes of epilepsy surgery in 56 consecutive patients with autism spectrum disorder. METHODS Medical records of 56 consecutive patients with autism who underwent epilepsy surgery were reviewed with regard to clinical characteristics, surgical management, postoperative seizure control, and behavioral changes. RESULTS Of the 56 patients with autism, 39 were male, 45 were severely autistic, 27 had a history of clinically significant levels of aggression and other disruptive behaviors, and 30 were considered nonverbal at baseline...
November 25, 2016: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/27871640/multidimensional-influences-on-autism-symptom%C3%A2-measures-implications-for-use-in%C3%A2-etiological-research
#6
Karoline Alexandra Havdahl, Vanessa Hus Bal, Marisela Huerta, Andrew Pickles, Anne-Siri Øyen, Camilla Stoltenberg, Catherine Lord, Somer L Bishop
OBJECTIVE: Growing awareness that symptoms of autism spectrum disorder (ASD) transcend multiple diagnostic categories, and major advances in the identification of genetic syndromes associated with ASD, have led to widespread use of ASD symptom measures in etiologic studies of neurodevelopmental disorders. Insufficient consideration of potentially confounding factors such as cognitive ability or behavior problems can have important negative consequences in interpretation of findings, including erroneous estimation of associations between ASD and etiologic factors...
December 2016: Journal of the American Academy of Child and Adolescent Psychiatry
https://www.readbyqxmd.com/read/27870420/imaging-sex-gender-and-autism-in-the-brain-etiological-implications
#7
REVIEW
Meng-Chuan Lai, Jason P Lerch, Dorothea L Floris, Amber N V Ruigrok, Alexa Pohl, Michael V Lombardo, Simon Baron-Cohen
The male preponderance in autism prevalence has brought together the disparate topics of sex/gender and autism research. Two directions of neuroimaging studies on the relationships between sex/gender and autism may inform male-specific risk mechanisms and female-specific protective mechanisms of autism. First, we review how sex/gender moderates autism-related brain changes and how this informs general models of autism etiology. Better-powered human neuroimaging studies suggest that the brain characteristics of autism are qualitatively, rather than simply quantitatively, different between males and females...
January 2, 2017: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/27863250/histone-acetylome-wide-association-study-of-autism-spectrum-disorder
#8
Wenjie Sun, Jeremie Poschmann, Ricardo Cruz-Herrera Del Rosario, Neelroop N Parikshak, Hajira Shreen Hajan, Vibhor Kumar, Ramalakshmi Ramasamy, T Grant Belgard, Bavani Elanggovan, Chloe Chung Yi Wong, Jonathan Mill, Daniel H Geschwind, Shyam Prabhakar
The association of histone modification changes with autism spectrum disorder (ASD) has not been systematically examined. We conducted a histone acetylome-wide association study (HAWAS) by performing H3K27ac chromatin immunoprecipitation sequencing (ChIP-seq) on 257 postmortem samples from ASD and matched control brains. Despite etiological heterogeneity, ≥68% of syndromic and idiopathic ASD cases shared a common acetylome signature at >5,000 cis-regulatory elements in prefrontal and temporal cortex. Similarly, multiple genes associated with rare genetic mutations in ASD showed common "epimutations...
November 17, 2016: Cell
https://www.readbyqxmd.com/read/27859447/the-co-occurrence-of-down-syndrome-and-autism-spectrum-disorder-is-it-because-of-additional-genetic-variations
#9
Angela L Rachubinski, Susan Hepburn, Ellen R Elias, Katheleen Gardiner, Tamim H Shaikh
Individuals with Down syndrome (DS) are diagnosed with autism spectrum disorder (ASD) at a significantly higher frequency than the typical population. The differentiation of ASD symptoms from those of severe intellectual disability presents diagnostic challenges, which have led to more refined methods in the clinical evaluation of ASD in DS. These improved phenotypic characterization methods not only provide better diagnosis of ASD in DS, but may also be useful in elucidating the etiology of the increased prevalence of ASD in DS...
November 17, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27855195/paternal-aging-affects-behavior-in-pax6-mutant-mice-a-gene-environment-interaction-in-understanding-neurodevelopmental-disorders
#10
Kaichi Yoshizaki, Tamio Furuse, Ryuichi Kimura, Valter Tucci, Hideki Kaneda, Shigeharu Wakana, Noriko Osumi
Neurodevelopmental disorders such as autism spectrum disorder (ASD) and attention deficit and hyperactivity disorder (ADHD) have increased over the last few decades. These neurodevelopmental disorders are characterized by a complex etiology, which involves multiple genes and gene-environmental interactions. Various genes that control specific properties of neural development exert pivotal roles in the occurrence and severity of phenotypes associated with neurodevelopmental disorders. Moreover, paternal aging has been reported as one of the factors that contribute to the risk of ASD and ADHD...
2016: PloS One
https://www.readbyqxmd.com/read/27842520/assessing-an-isizulu-questionnaire-with-educators-in-primary-schools-in-pietermaritzburg-to-establish-a-baseline-of-knowledge-of-autism-spectrum-disorder
#11
Natalie K Hutton, Carol Mitchell, Mary van der Riet
BACKGROUND: Autism Spectrum Disorder (ASD) is a significant childhood disorder and has a growing prevalence rate across the world. It has been identified in children from a wide range of racial groups, ethnicities and socio-economic groups, making it a globally relevant disorder. However, a lack of research on ASD in Africa makes it difficult to determine the prevalence rate, presentation and level of knowledge regarding the disorder locally. Therefore, assessing knowledge of ASD amongst professionals is a useful starting point for research in countries where research on ASD is limited...
November 14, 2016: BMC Pediatrics
https://www.readbyqxmd.com/read/27830427/factors-associated-with-self-injurious-behaviors-in-children-with-autism-spectrum-disorder-findings-from-two-large-national-samples
#12
G N Soke, S A Rosenberg, R F Hamman, T Fingerlin, C R Rosenberg, L Carpenter, L C Lee, E Giarelli, L D Wiggins, M S Durkin, A Reynolds, C DiGuiseppi
In this study, we explored potential associations among self-injurious behaviors (SIB) and a diverse group of protective and risk factors in children with autism spectrum disorder from two databases: Autism and Developmental Disabilities Monitoring (ADDM) Network and the Autism Speaks-Autism Treatment Network (AS-ATN). The presence of SIB was determined from children's records in ADDM and a parent questionnaire in AS-ATN. We used multiple imputation to account for missing data and a non-linear mixed model with site as a random effect to test for associations...
November 9, 2016: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/27825394/shared-atypical-brain-anatomy-and-intrinsic-functional-architecture-in-male-youth-with-autism-spectrum-disorder-and-their-unaffected-brothers
#13
H-Y Lin, W-Y I Tseng, M-C Lai, Y-T Chang, S S-F Gau
BACKGROUND: Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental disorder, yet the search for definite genetic etiologies remains elusive. Delineating ASD endophenotypes can boost the statistical power to identify the genetic etiologies and pathophysiology of ASD. We aimed to test for endophenotypes of neuroanatomy and associated intrinsic functional connectivity (iFC) via contrasting male youth with ASD, their unaffected brothers and typically developing (TD) males...
November 9, 2016: Psychological Medicine
https://www.readbyqxmd.com/read/27815839/disruption-of-ninjurin1-leads-to-repetitive-and-anxiety-like-behaviors-in-mice
#14
Hoang Le, Bum Ju Ahn, Hye Shin Lee, Anna Shin, Sujin Chae, Sung Yi Lee, Min Wook Shin, Eun-Ji Lee, Jong-Ho Cha, Taekwon Son, Ji Hae Seo, Hee-Jun Wee, Hyo-Jong Lee, Yongwoo Jang, Eng H Lo, Sejin Jeon, Goo Taeg Oh, Daesoo Kim, Kyu-Won Kim
Over the last few decades, molecular neurobiology has uncovered many genes whose deficiency in mice results in behavioral traits associated with human neuropsychiatric disorders such as autism, obsessive-compulsive disorder (OCD), and schizophrenia. However, the etiology of these common diseases remains enigmatic with the potential involvement of a battery of genes. Here, we report abnormal behavioral phenotypes of mice deficient in a cell adhesion molecule Ninjurin 1 (Ninj1), which are relevant to repetitive and anxiety behaviors of neuropsychiatric disorders...
November 5, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27804132/executive-functioning-and-local-global-visual-processing-candidate-endophenotypes-for-autism-spectrum-disorder
#15
Lien Van Eylen, Bart Boets, Nele Cosemans, Hilde Peeters, Jean Steyaert, Johan Wagemans, Ilse Noens
BACKGROUND: Heterogeneity within autism spectrum disorder (ASD) hampers insight in the etiology and stimulates the search for endophenotypes. Endophenotypes should meet several criteria, the most important being the association with ASD and the higher occurrence rate in unaffected ASD relatives than in the general population. We evaluated these criteria for executive functioning (EF) and local-global (L-G) visual processing. METHODS: By administering an extensive cognitive battery which increases the validity of the measures, we examined which of the cognitive anomalies shown by ASD probands also occur in their unaffected relatives (n = 113) compared to typically developing (TD) controls (n = 100)...
November 2, 2016: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/27796743/copy-number-variants-in-patients-with-autism-and-additional-clinical-features-report-of-vipr2-duplication-and-a-novel-microduplication-syndrome
#16
Saghar Ghasemi Firouzabadi, Roxana Kariminejad, Roshanak Vameghi, Hossein Darvish, Hamid Ghaedi, Susan Banihashemi, Mahboubeh Firouzkouhi Moghaddam, Peyman Jamali, Hassan Farbod Mofidi Tehrani, Hossein Dehghani, Mehrnaz Narooie-Nejad, Javad Jamshidi, Abbas Tafakhori, Saeid Sadabadi, Hossein Najmabadi, Farkhondeh Behjati
Autism is a common neurodevelopmental disorder estimated to affect 1 in 68 children. Many studies have shown the role of copy number variants (CNVs) as a major contributor in the etiology of autism with the overall detection rate of about 10-15 % and over 20 % when syndromic forms of autism exist. In this study, we used array CGH to identify CNVs in 15 Iranian patients with autism. To elevate our diagnostic yield, we selected the sporadic patients who had additional clinical features including intellectual disability (ID), craniofacial anomaly, and seizure...
October 28, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27793660/reduced-expression-of-%C3%AE-5gabaa-receptors-elicits-autism-like-alterations-in-eeg-patterns-and-sleep-wake-behavior
#17
Lia Mesbah-Oskui, Antonello Penna, Beverley A Orser, Richard L Horner
A reduction in the activity of GABAA receptors, particularly α5 subunit-containing GABAA receptors (α5GABAARs), has been implicated in the etiology of Autism Spectrum Disorders (ASD). Genetically modified mice that lack α5GABAARs (Gabra5(-/-)) exhibit autism-like behaviors and both enhanced and impaired learning and memory, depending on the behavioral task. The aim of this study was to examine the electroencephalogram (EEG) activity and sleep-wake behaviors in Gabra5(-/-) mice and wild-type mice. In addition, since some individuals with ASD can exhibit elevated innate immune response, mice were treated with lipopolysaccharide (LPS; 125mg/kg intraperitoneal injection) or vehicle and EEG and sleep-wake patterns were assessed...
October 25, 2016: Neurotoxicology and Teratology
https://www.readbyqxmd.com/read/27793223/gut-to-brain-axis-in-autism-spectrum-disorders-central-role-for-the-microbiome
#18
A D Kraneveld, K Szklany, C G M de Theije, J Garssen
Autism spectrum disorders (ASDs) are neurodevelopmental disorders, which occur in early childhood and persist into adulthood. Although the etiology of these disorders is largely unknown, genetic and environmental factors are thought to interplay in the development of ASD. Intestinal microbial dysbiosis, in prenatal and postnatal phases, is an important example of these environmental factors, and gastrointestinal problems including adverse reactions to foods are often reported in these children. In this review, we address the clinical and preclinical findings on the role of the intestinal microbiome in ASD and suggest possible underlying mechanisms...
2016: International Review of Neurobiology
https://www.readbyqxmd.com/read/27777633/uncovering-obsessive-compulsive-disorder-risk-genes-in-a-pediatric-cohort-by-high-resolution-analysis-of-copy-number-variation
#19
Matthew J Gazzellone, Mehdi Zarrei, Christie L Burton, Susan Walker, Mohammed Uddin, S M Shaheen, Julie Coste, Rageen Rajendram, Reva J Schachter, Marlena Colasanto, Gregory L Hanna, David R Rosenberg, Noam Soreni, Kate D Fitzgerald, Christian R Marshall, Janet A Buchanan, Daniele Merico, Paul D Arnold, Stephen W Scherer
BACKGROUND: Obsessive-compulsive disorder (OCD) is a heterogeneous neuropsychiatric condition, thought to have a significant genetic component. When onset occurs in childhood, affected individuals generally exhibit different characteristics from adult-onset OCD, including higher prevalence in males and increased heritability. Since neuropsychiatric conditions are associated with copy number variations (CNVs), we considered their potential role in the etiology of OCD. METHODS: We genotyped 307 unrelated pediatric probands with idiopathic OCD (including 174 that were part of complete parent-child trios) and compared their genotypes with those of 3861 population controls, to identify rare CNVs (<0...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27774573/the-role-of-micrornas-in-cerebellar-development-and-autism-spectrum-disorder-during-embryogenesis
#20
Lena Constantin
MicroRNAs (miRNAs) are a class of small non-coding RNA molecules with wide-ranging and subtle effects on protein production. Their activity during the development of the cerebellum provides a valuable exemplar of how non-coding molecules may assist the development and function of the central nervous system and drive neurodevelopmental disorders. Three distinct aspects of miRNA contribution to early cerebellar development will here be reviewed. Aspects are the establishment of the cerebellar anlage, the generation and maturation of at least two principal cell types of the developing cerebellar microcircuit, and the etiology and early progression of autism spectrum disorder...
October 24, 2016: Molecular Neurobiology
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