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ASD genetic testing

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https://www.readbyqxmd.com/read/29729439/clinical-significance-of-copy-number-variants-involving-kank1-in-patients-with-neurodevelopmental-disorders
#1
Rena J Vanzo, Hope Twede, Karen S Ho, Aparna Prasad, Megan M Martin, Sarah T South, E Robert Wassman
Copy number variants (CNV)s involving KANK1 are generally classified as variants of unknown significance. Several clinical case reports suggest that the loss of KANK1 on chromosome 9p24.3 has potential impact on neurodevelopment. These case studies are inconsistent in terms of patient phenotype and suspected pattern of inheritance. Further complexities arise because these published reports utilize a variety of genetic testing platforms with varying resolution of the 9p region; this ultimately causes uncertainty about the impacted genomic coordinates and gene transcripts...
May 2, 2018: European Journal of Medical Genetics
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/29574884/progress-in-the-genetics-of-autism-spectrum-disorder
#5
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...
May 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
#6
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
#7
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
#8
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/29520885/maternal-cytomegalovirus-sero-positivity-and-autism-symptoms-in-children
#9
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...
May 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
#10
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
#11
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
#12
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...
March 2018: Psychiatry Investigation
https://www.readbyqxmd.com/read/29473279/autism-spectrum-disorder-and-genetic-testing-parental-perceptions-and-decision-making
#13
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...
April 2018: Journal for Specialists in Pediatric Nursing: JSPN
https://www.readbyqxmd.com/read/29416845/-ehmt1-mosaicism-in-apparently-unaffected-parents-is-associated-with-autism-spectrum-disorder-and-neurocognitive-dysfunction
#14
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/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/29396406/dlgap1-knockout-mice-exhibit-alterations-of-the-postsynaptic-density-and-selective-reductions-in-sociability
#16
M P Coba, M J Ramaker, E V Ho, S L Thompson, N H Komiyama, S G N Grant, J A Knowles, S C Dulawa
The scaffold protein DLGAP1 is localized at the post-synaptic density (PSD) of glutamatergic neurons and is a component of supramolecular protein complexes organized by PSD95. Gain-of-function variants of DLGAP1 have been associated with obsessive-compulsive disorder (OCD), while haploinsufficient variants have been linked to autism spectrum disorder (ASD) and schizophrenia in human genetic studies. We tested male and female Dlgap1 wild type (WT), heterozygous (HT), and knockout (KO) mice in a battery of behavioral tests: open field, dig, splash, prepulse inhibition, forced swim, nest building, social approach, and sucrose preference...
February 2, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29377611/developmental-social-communication-deficits-in-the-shank3-rat-model-of-phelan-mcdermid-syndrome-and-autism-spectrum-disorder
#17
Elizabeth L Berg, Nycole A Copping, Josef K Rivera, Michael C Pride, Milo Careaga, Melissa D Bauman, Robert F Berman, Pamela J Lein, Hala Harony-Nicolas, Joseph D Buxbaum, Jacob Ellegood, Jason P Lerch, Markus Wöhr, Jill L Silverman
Mutations in the SHANK3 gene have been discovered in autism spectrum disorder (ASD), and the intellectual disability, Phelan-McDermid Syndrome. This study leveraged a new rat model of Shank3 deficiency to assess complex behavioral phenomena, unique to rats, which display a richer social behavior repertoire than mice. Uniquely detectable emissions of ultrasonic vocalizations (USV) in rats serve as situation-dependent affective signals and accomplish important communicative functions. We report, for the first time, a call and response acoustic playback assay of bidirectional social communication in juvenile Shank3 rats...
April 2018: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29362445/abnormal-behaviours-relevant-to-neurodevelopmental-disorders-in-kirrel3-knockout-mice
#18
Tomoko Hisaoka, Tadasuke Komori, Toshio Kitamura, Yoshihiro Morikawa
In the nervous system, Kirrel3 is involved in neuronal migration, axonal fasciculation, and synapse formation. Recently, genetic links have been reported between mutations in the KIRREL3 gene and increased risk of neurodevelopmental disorders, including autism spectrum disorder (ASD) and intellectual disability. To elucidate the causal relationship between KIRREL3 deficiency and behavioural abnormalities relevant to neurodevelopmental disorders, we generated global Kirrel3-knockout (Kirrel3-/- ) mice and investigated the detailed behavioural phenotypes...
January 23, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29330487/a-biomarker-characterizing-neurodevelopment-with-applications-in-autism
#19
Di Wu, Jorge V José, John I Nurnberger, Elizabeth B Torres
Despite great advances in neuroscience and genetic studies, our understanding of neurodevelopmental disorders is still quite limited. An important reason is not having objective psychiatric clinical tests. Here we propose a quantitative neurodevelopment assessment by studying natural movement outputs. Movement is central to behaviors: It involves complex coordination, temporal alterations, and precise dynamic controls. We carefully analyzed the continuous movement output data, collected with high definition electromagnetic sensors at millisecond time scales...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29327328/genetic-analysis-of-very-obese-children-with-autism-spectrum-disorder
#20
Herman D Cortes, Rachel Wevrick
Autism spectrum disorder (ASD) is defined by the triad of deficits in social interactions, deficits in communication, and repetitive behaviors. Common co-morbidities in syndromic forms of ASD include intellectual disability, seizures, and obesity. We asked whether very obese children with ASD had different behavioral, physical and genetic characteristics compared to children with ASD who were not obese. We found that very obese children with ASD had significantly poorer scores on standardized behavioral tests...
January 11, 2018: Molecular Genetics and Genomics: MGG
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