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Genetic tests autism

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https://www.readbyqxmd.com/read/29660215/polygenic-risk-for-psychiatric-disorders-correlates-with-executive-function-in-typical-development
#1
Andrew J Schork, Timothy T Brown, Donald J Hagler, Wesley K Thompson, Chi-Hua Chen, Anders M Dale, Terry L Jernigan, Natacha Akshoomoff
Executive functions are a diverse and critical suite of cognitive abilities that are often disrupted in individuals with psychiatric disorders. Despite their moderate to high heritability, little is known about the molecular genetic factors that contribute to variability in executive function and how these factors may be related to those that predispose to psychiatric illness. We examined the relationship between polygenic risk scores built from large genome-wide association studies of psychiatric illness and executive functioning in typically developing children...
April 16, 2018: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/29655594/no-effect-of-prenatal-vitamin-d-deficiency-on-autism-relevant-behaviours-in-multiple-inbred-strains-of-mice
#2
M Langguth, M Fassin, S Alexander, K M Turner, T H J Burne
Autism Spectrum Disorders (ASD) is a group of neurodevelopmental disorders commonly characterised by verbal and non-verbal communication deficits, impaired social interaction and repetitive, stereotypic behaviours. The aetiology of ASD is most likely a combination of genetic and environmental factors. Epidemiological evidence suggests that prenatal vitamin D deficiency is associated with an increased incidence of ASD. The overall aim of this study was to investigate prenatal vitamin D deficiency on ASD-related behavioural phenotypes in multiple inbred strains of mice...
April 12, 2018: Behavioural Brain Research
https://www.readbyqxmd.com/read/29651777/cost-effectiveness-of-genome-and-exome-sequencing-in-children-diagnosed-with-autism-spectrum-disorder
#3
Tracy Yuen, Melissa T Carter, Peter Szatmari, Wendy J Ungar
BACKGROUND: Genome (GS) and exome sequencing (ES) could potentially identify pathogenic variants with greater sensitivity than chromosomal microarray (CMA) in autism spectrum disorder (ASD) but are costlier and result interpretation can be uncertain. Study objective was to compare the costs and outcomes of four genetic testing strategies in children with ASD. METHODS: A microsimulation model estimated the outcomes and costs (in societal and public payer perspectives in Ontario, Canada) of four genetic testing strategies: CMA for all, CMA for all followed by ES for those with negative CMA and syndromic features (CMA+ES), ES or GS for all...
April 12, 2018: Applied Health Economics and Health Policy
https://www.readbyqxmd.com/read/29619162/crispr-cas9-induced-shank3b-mutant-zebrafish-display-autism-like-behaviors
#4
Chun-Xue Liu, Chun-Yang Li, Chun-Chun Hu, Yi Wang, Jia Lin, Yong-Hui Jiang, Qiang Li, Xiu Xu
Background: Human genetic and genomic studies have supported a strong causal role of SHANK3 deficiency in autism spectrum disorder (ASD). However, the molecular mechanism underlying SHANK3 deficiency resulting in ASD is not fully understood. Recently, the zebrafish has become an attractive organism to model ASD because of its high efficiency of genetic manipulation and robust behavioral phenotypes. The orthologous gene to human SHANK3 is duplicated in the zebrafish genome and has two homologs, shank3a and shank3b ...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29615849/targeting-mglu5-metabotropic-glutamate-receptors-in-the-treatment-of-cognitive-dysfunction-in-a-mouse-model-of-phenylketonuria
#5
Francesca Nardecchia, Rosamaria Orlando, Luisa Iacovelli, Marco Colamartino, Elena Fiori, Vincenzo Leuzzi, Sonia Piccinin, Robert Nistico, Stefano Puglisi-Allegra, Luisa Di Menna, Giuseppe Battaglia, Ferdinando Nicoletti, Tiziana Pascucci
We studied group-I metabotropic glutamate (mGlu) receptors in Pahenu2 (ENU2) mice, which mimic the genetics and neurobiology of human phenylketonuria (PKU), a metabolic disorder characterized, if untreated, by autism, and intellectual disability (ID). Male ENU2 mice showed increased mGlu5 receptor protein levels in the hippocampus and corpus striatum (but not in the prefrontal cortex) whereas the transcript of the mGlu5 receptor was unchanged. No changes in mGlu1 receptor mRNA and protein levels were found in any of the three brain regions of ENU2 mice...
2018: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/29574884/progress-in-the-genetics-of-autism-spectrum-disorder
#6
REVIEW
Marc Woodbury-Smith, Stephen W Scherer
A genetic basis for autism spectrum disorder (ASD) is now well established, and with the availability of high-throughput microarray and sequencing platforms, major advances have been made in our understanding of genetic risk factors. Rare, often de novo, copy number and single nucleotide variants are both implicated, with many ASD-implicated genes showing pleiotropy and variable penetrance. Additionally, common variants are also known to play a role in ASD's genetic etiology. These new insights into the architecture of ASD's genetic etiology offer opportunities for the identification of molecular targets for novel interventions, and provide new insight for families seeking genetic counselling...
March 25, 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29569150/impaired-lipid-metabolism-markers-to-assess-the-risk-of-neuroinflammation-in-autism-spectrum-disorder
#7
Hanan Qasem, Laila Al-Ayadhi, Geir Bjørklund, Salvatore Chirumbolo, Afaf El-Ansary
Autism spectrum disorder (ASD) is a multifactorial disorder caused by an interaction between environmental risk factors and a genetic background. It is characterized by impairment in communication, social interaction, repetitive behavior, and sensory processing. The etiology of ASD is still not fully understood, and the role of neuroinflammation in autism behaviors needs to be further investigated. The aim of the present study was to test the possible association between prostaglandin E2 (PGE2), cyclooxygenase-2 (COX-2), microsomal prostaglandin E synthase-1 (mPGES-1), prostaglandin PGE2 EP2 receptors and nuclear kappa B (NF-κB) and the severity of cognitive disorders, social impairment, and sensory dysfunction...
March 22, 2018: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29564645/diagnostic-efficacy-and-new-variants-in-isolated-and-complex-autism-spectrum-disorder-using-molecular-karyotyping
#8
Luca Lovrečić, Polona Rajar, Marija Volk, Sara Bertok, Barbara Gnidovec Stražišar, Damjan Osredkar, Maja Jekovec Vrhovšek, Borut Peterlin
Autism spectrum disorder (ASD) is a group of the neurodevelopment disorders presenting as an isolated ASD or more complex forms, where a broader clinical phenotype comprised of developmental delay and intellectual disability is present. Both the isolated and complex forms have a significant causal genetic component and submicroscopic genomic copy number variations (CNV) are the most common identifiable genetic factor in these patients. The data on microarray testing in ASD cohorts are still accumulating and novel loci are often identified; therefore, we aimed to evaluate the diagnostic efficacy of the method and the relevance of implementing it into routine genetic testing in ASD patients...
March 21, 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29549871/autistic-adults-show-preserved-normalisation-of-sensory-responses-in-gaze-processing
#9
Colin J Palmer, Rebecca P Lawson, Shravanti Shankar, Colin W G Clifford, Geraint Rees
Progress in our understanding of autism spectrum disorder (ASD) has recently been sought by characterising how systematic differences in canonical neural computations employed across the sensory cortex might contribute to clinical symptoms in diverse sensory, cognitive, and social domains. A key proposal is that ASD is characterised by reduced divisive normalisation of sensory responses. This provides a bridge between genetic and molecular evidence for an increased ratio of cortical excitation to inhibition in ASD and the functional characteristics of sensory coding that are relevant for understanding perception and behaviour...
February 21, 2018: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
https://www.readbyqxmd.com/read/29527006/genome-wide-analyses-of-self-reported-empathy-correlations-with-autism-schizophrenia-and-anorexia-nervosa
#10
Varun Warrier, Roberto Toro, Bhismadev Chakrabarti, Anders D Børglum, Jakob Grove, David A Hinds, Thomas Bourgeron, Simon Baron-Cohen
Empathy is the ability to recognize and respond to the emotional states of other individuals. It is an important psychological process that facilitates navigating social interactions and maintaining relationships, which are important for well-being. Several psychological studies have identified difficulties in both self-report and performance-based measures of empathy in a range of psychiatric conditions. To date, no study has systematically investigated the genetic architecture of empathy using genome-wide association studies (GWAS)...
March 12, 2018: Translational Psychiatry
https://www.readbyqxmd.com/read/29524155/reproductive-genetics-and-the-aging-male
#11
REVIEW
Alexander N Yatsenko, Paul J Turek
PURPOSE: To examine current evidence of the known effects of advanced paternal age on sperm genetic and epigenetic changes and associated birth defects and diseases in offspring. METHODS: Review of published PubMed literature. RESULTS: Advanced paternal age (> 40 years) is associated with accumulated damage to sperm DNA and mitotic and meiotic quality control mechanisms (mismatch repair) during spermatogenesis. This in turn causes well-delineated abnormalities in sperm chromosomes, both numerical and structural, and increased sperm DNA fragmentation (3%/year of age) and single gene mutations (relative risk, RR 10)...
March 9, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29520885/maternal-cytomegalovirus-sero-positivity-and-autism-symptoms-in-children
#12
Brooke L Slawinski, Nicole Talge, Brooke Ingersoll, Arianna Smith, Alicynne Glazier, Jean Kerver, Nigel Paneth, Karen Racicot
PROBLEM: Autism spectrum disorder (ASD) is one of the most commonly diagnosed neurodevelopmental disorders in the United States. While ASD can be significantly influenced by genetics, prenatal exposure to maternal infections has also been implicated in conferring risk. Despite this, the effects of several important maternal pathogens, such as cytomegalovirus (CMV) and herpes simplex virus 2 (HSV2), remain unknown. METHOD OF STUDY: We tested whether maternal CMV and/or HSV2 sero-positivity was associated with ASD symptoms in children...
March 9, 2018: American Journal of Reproductive Immunology: AJRI
https://www.readbyqxmd.com/read/29515378/impaired-object-recognition-but-normal-social-behavior-and-ultrasonic-communication-in-cofilin1-mutant-mice
#13
A Özge Sungur, Lea Stemmler, Markus Wöhr, Marco B Rust
Autism spectrum disorder (ASD), schizophrenia (SCZ) and intellectual disability (ID) show a remarkable overlap in symptoms, including impairments in cognition, social behavior and communication. Human genetic studies revealed an enrichment of mutations in actin-related genes for these disorders, and some of the strongest candidate genes control actin dynamics. These findings led to the hypotheses: (i) that ASD, SCZ and ID share common disease mechanisms; and (ii) that, at least in a subgroup of affected individuals, defects in the actin cytoskeleton cause or contribute to their pathologies...
2018: Frontiers in Behavioral Neuroscience
https://www.readbyqxmd.com/read/29507711/17-%C3%AE-estradiol-increases-parvalbumin-levels-in-pvalb-heterozygous-mice-and-attenuates-behavioral-phenotypes-with-relevance-to-autism-core-symptoms
#14
Federica Filice, Emanuel Lauber, Karl Jakob Vörckel, Markus Wöhr, Beat Schwaller
Background: Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by two core symptoms: impaired social interaction and communication, and restricted, repetitive behaviors and interests. The pathophysiology of ASD is not yet fully understood, due to a plethora of genetic and environmental risk factors that might be associated with or causal for ASD. Recent findings suggest that one putative convergent pathway for some forms of ASD might be the downregulation of the calcium-binding protein parvalbumin (PV)...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29475239/an-investigation-of-sdf1-cxcr4-gene-polymorphisms-in-autism-spectrum-disorder-a-family-based-study
#15
Tayfun Kara, İsmail Akaltun, Bedia Cakmakoglu, İlyas Kaya, Salih Zoroğlu
Objective: Autism spectrum disorders (ASD) have a complex pathophysiology including genetic, inflammatory and neurodevelopmental components. We aim to investigate the relationship between ASD and gene polymorphisms of stromal cell-derived factor-1 (SDF-1) and its receptor CXC chemokine receptor-4 (CXCR4), which may affect inflammatory and neurodevelopmental processes. Methods: 101 children diagnosed with ASD aged 2-18 and their biological parents were included in the study...
February 22, 2018: Psychiatry Investigation
https://www.readbyqxmd.com/read/29473279/autism-spectrum-disorder-and-genetic-testing-parental-perceptions-and-decision-making
#16
Alyson E Hanish, Marlene Z Cohen, Lois J Starr
PURPOSE: Advances in genomic technology and research have led to genetic testing being recognized as an essential component of the etiological workup for children with autism spectrum disorder (ASD). Chromosomal microarray analysis (CMA) is a first-tier diagnostic test for patients with ASD, as recommended by the American College of Medical Genetics and other professional societies. An accurate underlying medical diagnosis for ASD has many potential benefits, including appropriate medical management, detailed therapeutic recommendations, and accurate recurrence risk...
February 23, 2018: Journal for Specialists in Pediatric Nursing: JSPN
https://www.readbyqxmd.com/read/29472613/genetic-contribution-to-theory-of-mind-in-adolescence
#17
Varun Warrier, Simon Baron-Cohen
Difficulties in 'theory of mind' (the ability to attribute mental states to oneself or others, and to make predictions about another's behaviour based on these attributions) have been observed in several psychiatric conditions. We investigate the genetic architecture of theory of mind in 4,577 13-year-olds who completed the Emotional Triangles Task (Triangles Task), a first-order test of theory of mind. We observe a small but significant female-advantage on the Triangles Task (Cohen's d = 0.19, P < 0...
February 22, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29445122/deep-phenotyping-of-speech-and-language-skills-in-individuals-with-16p11-2-deletion
#18
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/29416845/ehmt1-mosaicism-in-apparently-unaffected-parents-is-associated-with-autism-spectrum-disorder-and-neurocognitive-dysfunction
#19
Anneke de Boer, Karlijn Vermeulen, Jos I M Egger, Joost G E Janzing, Nicole de Leeuw, Hermine E Veenstra-Knol, Nicolette S den Hollander, Hans van Bokhoven, Wouter Staal, Tjitske Kleefstra
Background: Genetic mosaicism is only detected occasionally when there are no obvious health or developmental issues. Most cases concern healthy parents in whom mosaicism is identified upon targeted testing of a genetic defect that was initially detected in their children. A germline genetic defect affecting the euchromatin histone methyltransferase 1 (EHMT1) gene causes Kleefstra syndrome, which is associated with the typical triad of distinct facial appearance, (childhood) hypotonia, and intellectual disability...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29413639/biotin-and-acetazolamide-for-treatment-of-an-unusual-child-with-autism-plus-lack-of-nail-and-hair-growth
#20
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
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