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Autism etiology

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https://www.readbyqxmd.com/read/28536923/single-nucleotide-polymorphisms-in-slc19a1-and-slc25a9-are-associated-with-childhood-autism-spectrum-disorder-in-the-chinese-han-population
#1
Jun Liu, Weiming Mo, Zengyu Zhang, Hong Yu, Aiping Yang, Fei Qu, Pingfang Hu, Zhuo Liu, Shihu Wang
Genetic variants have been implicated in the development of autism spectrum disorder (ASD). Recent studies suggest that solute carriers (SLCs) may play a role in the etiology of ASD. This purpose of this study was to determine the association between single nucleotide polymorphisms (SNPs) in SLC19A1 and SLC25A12 genes with childhood ASD in a Chinese Han population. A total of 201 autistic children and 200 age- and gender-matched healthy controls were recruited. A TaqMan probe-based real-time PCR approach was used to determine genotypes of SNPs corresponding to rs1023159 and rs1051266 in SLC19A1, and rs2056202 and rs2292813 in SLC25A12...
May 24, 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28536440/genetic-variants-in-the-transcription-regulatory-region-of-megf10-are-associated-with-autism-in-chinese-han-population
#2
Zhiliu Wu, Jian Qin, Yang You, Yuanlin Ma, Meixiang Jia, Linyan Wang, Tianlan Lu, Weihua Yue, Yanyan Ruan, Dai Zhang, Jun Li, Lifang Wang
Multiple epidermal growth factor-like-domains 10 (MEGF10), a critical member of the apoptotic engulfment pathway, mediates axon pruning and synapse elimination during brain development. Previous studies indicated that synaptic pruning deficit was associated with autism-related phenotypes. However, the relationship between MEGF10 and autism remains poorly understood. Disease-associated variants are significantly enriched in the transcription regulatory regions. These include the transcription start site (TSS) and its cis-regulatory elements...
May 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28534217/autism-spectrum-disorder-associated-genes-and-the-development-of-dentate-granule-cells
#3
REVIEW
Hidenori Ito, Rika Morishita, Koh-Ichi Nagata
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by severe clinical symptoms such as the deficiency of the social communication, repetitive and stereotyped behaviors, and restricted interests. Although complex genetic and environmental factors are thought to contribute to the development of ASD, the precise etiologies are largely unknown. Neuroanatomical observations have been made of developmental abnormalities in different brain regions, including dentate gyrus of hippocampus, which is widely accepted as the center for learning and memory...
May 22, 2017: Medical Molecular Morphology
https://www.readbyqxmd.com/read/28533432/the-atp-dependent-chromatin-remodeling-enzymes-chd6-chd7-and-chd8-exhibit-distinct-nucleosome-binding-and-remodeling-activities
#4
Benjamin J Manning, Timur Yusufzai
Proper chromatin regulation is central to genome function and maintenance. The group III CHD family of ATP-dependent chromatin remodeling enzymes--comprising CHD6, CHD7, CHD8, and CHD9--has well-documented roles in transcription regulation impacting both organism development and disease etiology. These four enzymes are similar in their constituent domains, yet these enzymes fill surprisingly non-redundant roles in the cell, with deficiencies in individual enzymes leading to dissimilar disease states such as CHARGE syndrome or autism spectrum disorders...
May 21, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28533427/copy-number-variations-independently-induce-autism-spectrum-disorder
#5
Yingjun Xie, Haiming Yuan, Mingbang Wang, Liangying Zhong, Jiaxiu Zhou, Bing Song, Qibin Yin, Xiaofang Sun
The examination of copy number variation (CNV) is critical to understanding the etiology of the CNV-related autism spectrum disorders (ASD). DNA samples were obtained from 64 ASD probands, which were genotyped on an Affymetrix CytoScan HD platform. qPCR or FISH were used as a validation for some novel recurrent CNVs. We further compared the clinical phenotypes of the genes in the DECIPHER database with these overlapping genes.  Using vast, readily available databases with previously reported clinically relevant CNVs from human populations, the genes were evaluated using Enrichment Analysis and GO Slim Classification...
May 22, 2017: Bioscience Reports
https://www.readbyqxmd.com/read/28527575/coup-tf-genes-human-diseases-and-the-development-of-the-central-nervous-system-in-murine-models
#6
Xiong Yang, Su Feng, Ke Tang
COUP-TFI and -TFII are members of the steroid/thyroid nuclear receptor superfamily. Recent clinical studies reveal that COUP-TFI gene mutations are associated with Bosch-Boonstra-Schaaf optic atrophy syndrome displaying symptoms of optic atrophy, intellectual disability, hypotonia, seizure, autism spectrum disorders, oromotor dysfunction, thin corpus callosum, or hearing defects, and COUP-TFII gene mutations lead to congenital heart defects and/or congenital diaphragmatic hernia with developmental delay and mental defects...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28525627/geographic-patterns-of-autism-spectrum-disorder-among-children-of-nurses-health-study-ii-women
#7
Kate Hoffman, Marc G Weisskopf, Andrea L Roberts, Raanan Raz, Jaime E Hart, Kristen Lyall, Elin M Hoffman, Francine Laden, Verónica M Vieira
Data indicate that autism spectrum disorder (ASD) prevalence may be increasing and varies geographically. We investigated associations between residential location and ASD in the children of Nurses' Health Study II women in order to generate hypotheses about social and environmental factors related to etiology or diagnosis. Analyses included 13,507 children born from 1989-1999 (486 with ASD). We explored relationships between ASD and residential location at both birth and age 6 years (i.e. closer to average diagnosis age)...
May 19, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28524230/the-etiology-of-autistic-traits-in-preschoolers-a-population-based-twin-study
#8
Eveline L de Zeeuw, Catharina E M van Beijsterveldt, Rosa A Hoekstra, Meike Bartels, Dorret I Boomsma
BACKGROUND: Autism Spectrum Disorders (ASD) are highly heritable, but the exact etiological mechanisms underlying the condition are still unclear. METHODS: Using a multiple rater twin design in a large sample of general population preschool twins, this study aimed to (a) estimate the contribution of genetic and environmental factors to autistic traits, controlling for the possible effects of rater bias, (b) to explore possible sex differences in etiology and (c) to investigate the discordance in autistic traits in monozygotic and same-sex dizygotic twin pairs...
May 19, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28524073/parents-attitudes-toward-clinical-genetic-testing-for-autism-spectrum-disorder-data-from-a-norwegian-sample
#9
Jarle Johannessen, Terje Nærland, Sigrun Hope, Tonje Torske, Anne Lise Høyland, Jana Strohmaier, Arvid Heiberg, Marcella Rietschel, Srdjan Djurovic, Ole A Andreassen
Clinical genetic testing (CGT) of children with autism spectrum disorder (ASD) may have positive and negative effects. Knowledge about parents' attitudes is needed to ensure good involvement of caregivers, which is crucial for accurate diagnosis and effective clinical management. This study aimed to assess parents' attitudes toward CGT for ASD. Parent members of the Norwegian Autism Society were given a previously untested questionnaire and 1455 answered. Linear regression analyses were conducted to evaluate contribution of parent and child characteristics to attitude statements...
May 18, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28507316/autism-spectrum-disorders-and-autistic-traits-share-genetics-and-biology
#10
J Bralten, K J van Hulzen, M B Martens, T E Galesloot, A Arias Vasquez, L A Kiemeney, J K Buitelaar, J W Muntjewerff, B Franke, G Poelmans
Autism spectrum disorders (ASDs) and autistic traits in the general population may share genetic susceptibility factors. In this study, we investigated such potential overlap based on common genetic variants. We developed and validated a self-report questionnaire of autistic traits in adults. We then conducted genome-wide association studies (GWASs) of six trait scores derived from the questionnaire through exploratory factor analysis in 1981 adults from the general population. Using the results from the Psychiatric Genomics Consortium GWAS of ASDs, we observed genetic sharing between ASDs and the autistic traits 'childhood behavior', 'rigidity' and 'attention to detail'...
May 16, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28504703/polygenic-transmission-disequilibrium-confirms-that-common-and-rare-variation-act-additively-to-create-risk-for-autism-spectrum-disorders
#11
Daniel J Weiner, Emilie M Wigdor, Stephan Ripke, Raymond K Walters, Jack A Kosmicki, Jakob Grove, Kaitlin E Samocha, Jacqueline I Goldstein, Aysu Okbay, Jonas Bybjerg-Grauholm, Thomas Werge, David M Hougaard, Jacob Taylor, David Skuse, Bernie Devlin, Richard Anney, Stephan J Sanders, Somer Bishop, Preben Bo Mortensen, Anders D Børglum, George Davey Smith, Mark J Daly, Elise B Robinson
Autism spectrum disorder (ASD) risk is influenced by common polygenic and de novo variation. We aimed to clarify the influence of polygenic risk for ASD and to identify subgroups of ASD cases, including those with strongly acting de novo variants, in which polygenic risk is relevant. Using a novel approach called the polygenic transmission disequilibrium test and data from 6,454 families with a child with ASD, we show that polygenic risk for ASD, schizophrenia, and greater educational attainment is over-transmitted to children with ASD...
May 15, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28503910/post-zygotic-single-nucleotide-mosaicisms-contribute-to-the-etiology-of-autism-spectrum-disorder-and-autistic-traits-and-the-origin-of-mutations
#12
Yanmei Dou, Xiaoxu Yang, Ziyi Li, Sheng Wang, Zheng Zhang, Adam Yongxin Ye, Linlin Yan, Changhong Yang, Qixi Wu, Jiarui Li, Boxun Zhao, August Yue Huang, Liping Wei
The roles and characteristics of post-zygotic single-nucleotide mosaicisms (pSNMs) in autism spectrum disorders (ASD) remain unclear. In this study of the whole-exomes of 2,321 families in the Simons Simplex Collection (SSC), we identified 1,248 putative pSNMs in children and 285 de novo SNPs in children with detectable parental mosaicism. Ultra-deep amplicon resequencing suggested a validation rate of 51%. Analyses of validated pSNMs revealed that missense/loss-of-function (LoF) pSNMs with a high mutant allele fraction (MAF> = 0...
May 14, 2017: Human Mutation
https://www.readbyqxmd.com/read/28499914/advances-in-understanding-the-pathophysiology-of-autism-spectrum-disorders
#13
REVIEW
Konstantin Yenkoyan, Artem Grigoryan, Katarine Fereshetyan, Diana Yepremyan
Autism spectrum disorders (ASD) are common heterogeneous neurodevelopmental disorders with typical triad of symptoms: impaired social interaction, language and communication abnormalities, and stereotypical behavior. Despite extensive research, the etiology and pathogenesis of ASD remain largely unclear. The lack of solid knowledge on the mechanisms of these disorders decreases the opportunities for pathogenetic treatment of autism. Various theories where proposed in order to explain the pathophysiology underlying ASD...
May 9, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28498556/adaptive-and-maladaptive-functioning-in-kleefstra-syndrome-compared-to-other-rare-genetic-disorders-with-intellectual-disabilities
#14
Karlijn Vermeulen, Anneke de Boer, Joost G E Janzing, David A Koolen, Charlotte W Ockeloen, Marjolein H Willemsen, Floor M Verhoef, Patricia A M van Deurzen, Linde van Dongen, Hans van Bokhoven, Jos I M Egger, Wouter G Staal, Tjitske Kleefstra
Detailed neurobehavioural profiles are of major value for specific clinical management, but have remained underexposed in the population with intellectual disabilities (ID). This was traditionally classified based on IQ level only. Rapid advances in genetics enable etiology based stratification in the majority of patients, which reduces clinical heterogeneity. This paper illustrates that specific profiles can be obtained for rare syndromes with ID. Our main aim was to study (mal)adaptive functioning in Kleefstra Syndrome (KS) by comparing and contrasting our findings to three other subgroups: Koolen-de Vries Syndrome, GATAD2B-related syndrome, and a mixed control group of individuals with ID...
May 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28497358/predictive-value-of-selected-biomarkers-related-to-metabolism-and-oxidative-stress-in-children-with-autism-spectrum-disorder
#15
Afaf El-Ansary, Geir Bjørklund, Salvatore Chirumbolo, Osima M Alnakhli
Autism spectrum disorder (ASD) as a neurodevelopmental disorder is characterized by impairments in social interaction, communication, and restricted, repetitive behavior. Several and reproducible studies have suggested that oxidative stress may represent one of the primary etiological mechanism of ASD that can be targeted for therapeutic intervention. In the present study, multiple regression and combined receiver operating characteristic (ROC) analysis were used to search for a relationship between impaired energy and oxidative metabolic pathways in the etiology of ASD and to find the linear combination that maximizes the partial area under a ROC curve for a pre-identified set of markers related to energy metabolism and oxidative stress...
May 11, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28488079/fathers-orientation-to-their-children-s-autism-diagnosis-a-grounded-theory-study
#16
Michael D Hannon, LaChan V Hannon
Sixteen fathers of individuals with autism were interviewed to develop a grounded theory explaining how they learned about their children's autism diagnosis. Results suggest the orientation process entails at least two phases: orienting oneself and orienting others. The orienting oneself phase entailed fathers having suspicion of developmental differences, engaging in research and education activities, having their children formally evaluated; inquiring about their children's prognosis, and having curiosities about autism's etiology...
May 9, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28480499/blood-mercury-arsenic-cadmium-and-lead-in-children-with-autism-spectrum-disorder
#17
Huamei Li, Hui Li, Yun Li, Yujie Liu, Zhengyan Zhao
Environmental factors have been implicated in the etiology of autism spectrum disorder (ASD); however, the role of heavy metals has not been fully defined. This study investigated whether blood levels of mercury, arsenic, cadmium, and lead of children with ASD significantly differ from those of age- and sex-matched controls. One hundred eighty unrelated children with ASD and 184 healthy controls were recruited. Data showed that the children with ASD had significantly (p < 0.001) higher levels of mercury and arsenic and a lower level of cadmium...
May 8, 2017: Biological Trace Element Research
https://www.readbyqxmd.com/read/28475976/the-association-of-environmental-toxicants-and-autism-spectrum-disorders-in-children
#18
REVIEW
Bi Su Ye, Anna Oi Wah Leung, Ming Hung Wong
Autism spectrum disorders (ASDs) is a set of complex neurodevelopment disorders that is prevalent in children and is increasing at a steady rate in recent years. However, the etiology of autism is still poorly understood. Humans are at higher risk of chemical exposure than in the past as a result of the increasing usage of chemicals in various fields, including food preservation, agriculture, industrial production, etc. A number of environmental agents have been suggested as contributing factors to ASD pathogenesis, which includes heavy metals (Hg and Pb), persistent organic pollutants (DDT, PBDEs and PCBs) and emerging chemicals of concern (phthalates and BPA)...
May 2, 2017: Environmental Pollution
https://www.readbyqxmd.com/read/28474173/-genetics-of-bipolar-disorder
#19
REVIEW
M Budde, A J Forstner, K Adorjan, S K Schaupp, M M Nöthen, T G Schulze
Bipolar disorder (BD) has a multifactorial etiology. Its development is influenced by genetic as well as environmental factors. Large genome-wide association studies (GWAS), in which genetic risk allelic variants for the disorder could be replicated for the first time, marked the breakthrough in the identification of the responsible risk genes. In addition to these common genetic variants with moderate effects identified by GWAS, rare variants with a higher penetrance are expected to play a role in disease development...
May 4, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28463420/behavioral-phenotyping-for-autism-spectrum-disorders-in-mice
#20
Yu-Chi Chang, Toby B Cole, Lucio G Costa
Autism spectrum disorder (ASD) represents a heterogeneous group of disorders characterized by alterations in three behavioral symptom domains: Social interactions, verbal and nonverbal communication, and repetitive behaviors. Increasing prevalence of ASD in recent years suggests that exposure to environmental toxicants may be critical in modulating etiology of this disease. As clinical diagnosis of autism still relies on behavioral evaluation, it is important to be able to assess similar behavioral traits in animal models, to provide biological plausibility of associations between environmental exposures and ASD...
May 2, 2017: Current Protocols in Toxicology
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