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Genetic tests autism

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https://www.readbyqxmd.com/read/29040524/potentiation-of-excitatory-synaptic-transmission-ameliorates-aggression-in-mice-with-stxbp1-haploinsufficiency
#1
Hiroyuki Miyamoto, Atsushi Shimohata, Manabu Abe, Teruo Abe, Emi Mazaki, Kenji Amano, Toshimitsu Suzuki, Tetsuya Tatsukawa, Shigeyoshi Itohara, Kenji Sakimura, Kazuhiro Yamakawa
Genetic studies point to a major role of de novo mutations in neurodevelopmental disorders of intellectual disability, autism spectrum disorders, and epileptic encephalopathy. The STXBP1 gene encodes the syntaxin-binding protein 1 (Munc18-1) that critically controls synaptic vesicle exocytosis and synaptic transmission. This gene harbors a high frequency of de novo mutations, which may play roles in these neurodevelopmental disorders. However, the system and behavioral-level pathophysiological changes caused by these genetic defects remain poorly understood...
October 11, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29038711/study-of-the-c677t-and-1298ac-polymorphic-genotypes-of-mthfr-gene-in-autism-spectrum-disorder
#2
Farida El-Baz, Mohammed Abd El-Aal, Tarek Moustafa Kamal, Abdelrahim Abdrabou Sadek, Amr Ahmed Othman
BACKGROUND: Autism is currently known as "a behaviorally defined syndrome" manifested as impairment in social communication, repetitive routines and restricted interests. There is an increased risk of ASDs associated with common mutations affecting the folate/methylation cycle. AIM: The aim of this study was to identify C677T and 1298AC polymorphic genotypes of MTHFR gene among a sample of Egyptian children with autism and to make a phenotype-genotype correlation for the autistic patients...
September 2017: Electronic Physician
https://www.readbyqxmd.com/read/29028156/genetic-background-effects-in-neuroligin-3-mutant-mice-minimal-behavioral-abnormalities-on-c57-background
#3
Thomas C Jaramillo, Christine Ochoa Escamilla, Shunan Liu, Lauren Peca, Shari G Birnbaum, Craig M Powell
Neuroligin-3 (NLGN3) is a postsynaptic cell adhesion protein that interacts with presynaptic ligands including neurexin-1 (NRXN1) [Ichtchenko et al., Journal of Biological Chemistry, 271, 2676-2682, 1996]. Mice harboring a mutation in the NLGN3 gene (NL3R451C) mimicking a mutation found in two brothers with autism spectrum disorder (ASD) were previously generated and behaviorally phenotyped for autism-related behaviors. In these NL3R451C mice generated and tested on a hybrid C57BL6J/129S2/SvPasCrl background, we observed enhanced spatial memory and reduced social interaction [Tabuchi et al...
October 13, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28972453/impaired-eye-contact-in-the-fmr1-premutation-is-not-associated-with-social-anxiety-or-the-broad-autism-phenotype
#4
Jessica Klusek, Alexis Ruber, Jane E Roberts
OBJECTIVE: The Fragile X Mental Retardation-1 (FMR1) premutation is a common genetic abnormality, affecting ~1:150 women in the United States. Clinical neuropsychologists are becoming increasingly aware of their role in the clinical management of the FMR1 premutation, which is associated with risk for a range of cognitive, executive, neuromotor, and psychological impairments, including neurodegenerative disease. This study investigated atypical eye contact as a critical neuropsychological phenotype associated with the FMR1 premutation...
October 3, 2017: Clinical Neuropsychologist
https://www.readbyqxmd.com/read/28964912/functional-coding-variation-in-the-presynaptic-dopamine-transporter-associated-with-neuropsychiatric-disorders-drives-enhanced-motivation-and-context-dependent-impulsivity-in-mice
#5
Gwynne L Davis, Adele Stewart, Gregg D Stanwood, Raajaram Gowrishankar, Maureen K Hahn, Randy D Blakely
Recent genetic analyses have provided evidence that clinical commonalities associated with different psychiatric diagnoses often have shared mechanistic underpinnings. The development of animal models expressing functional genetic variation attributed to multiple disorders offers a salient opportunity to capture molecular, circuit and behavioral alterations underlying this hypothesis. In keeping with studies suggesting dopaminergic contributions to attention-deficit hyperactivity disorder (ADHD), bipolar disorder (BPD) and autism spectrum disorder (ASD), subjects with these diagnoses have been found to express a rare, functional coding substitution in the dopamine (DA) transporter (DAT), Ala559Val...
January 30, 2018: Behavioural Brain Research
https://www.readbyqxmd.com/read/28958749/-comparative-genomic-hybridisation-as-a-first-option-in-genetic-diagnosis-1-000-cases-and-a-cost-benefit-analysis
#6
Neus Castells-Sarret, Anna M Cueto-González, Mar Borregan, Fermina López-Grondona, Rosa Miró, Eduardo Tizzano, Alberto Plaja
BACKGROUND AND OBJECTIVE: Conventional cytogenetics diagnoses 3-5% of patients with unexplained developmental delay/intellectual disability and/or multiple congenital anomalies. The Multiplex Ligation-dependent Probe Amplification increases diagnostic rates from between 2.4 to 5.8%. Currently the comparative genomic hybridisation array or aCGH is the highest performing diagnostic tool in patients with developmental delay/intellectual disability, congenital anomalies and autism spectrum disorders...
September 25, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28958035/sleep-wake-physiology-and-quantitative-eeg-analysis-of-the-neuroligin-3-knockout-rat-model-of-autism-spectrum-disorder
#7
Alexia M Thomas, Michael D Schwartz, Michael D Saxe, Thomas S Kilduff
Study Objectives: Neuroligin-3 (NLGN3) is one of many genes associated with autism spectrum disorder (ASD). Sleep dysfunction is highly prevalent in ASD, but has not been rigorously examined in ASD models. Here, we evaluated sleep/wake physiology and behavioral phenotypes of rats with genetic ablation of Nlgn3. Methods: Male Nlgn3 knockout (KO) and wild-type (WT) rats were assessed using a test battery for ASD-related behaviors and also implanted with telemeters to record the electroencephalogram (EEG), electromyogram (EMG), body temperature, and locomotor activity...
August 31, 2017: Sleep
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/28937887/characteristics-and-associated-comorbidities-of-pediatric-dental-patients-treated-under-general-anesthesia
#9
Alexandra Delfiner, Aaron Myers, Christie Lumsden, Steve Chussid, Richard Yoon
OBJECTIVE: To describe characteristics and identify common comorbidities of children receiving dental treatment under general anesthesia at Children's Hospital of New York-Presbyterian. STUDY DESIGN: Electronic medical records of all children that received dental treatment under general anesthesia through the Division of Pediatric Dentistry from 2012-2014 were reviewed. Data describing patient characteristics (age, sex, race/ethnicity, insurance carrier, and American Society of Anesthesiologists physical status classification system), medical history, and justification for treatment were collected...
September 22, 2017: Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/28935972/chromosomal-microarray-analysis-in-a-cohort-of-underrepresented-population-identifies-serinc2-as-a-novel-candidate-gene-for-autism-spectrum-disorder
#10
Areerat Hnoonual, Weerin Thammachote, Thipwimol Tim-Aroon, Kitiwan Rojnueangnit, Tippawan Hansakunachai, Tasanawat Sombuntham, Rawiwan Roongpraiwan, Juthamas Worachotekamjorn, Jariya Chuthapisith, Suthat Fucharoen, Duangrurdee Wattanasirichaigoon, Nichara Ruangdaraganon, Pornprot Limprasert, Natini Jinawath
Chromosomal microarray (CMA) is now recognized as the first-tier genetic test for detection of copy number variations (CNVs) in patients with autism spectrum disorder (ASD). The aims of this study were to identify known and novel ASD associated-CNVs and to evaluate the diagnostic yield of CMA in Thai patients with ASD. The Infinium CytoSNP-850K BeadChip was used to detect CNVs in 114 Thai patients comprised of 68 retrospective ASD patients (group 1) with the use of CMA as a second line test and 46 prospective ASD and developmental delay patients (group 2) with the use of CMA as the first-tier test...
September 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28929285/genomic-disorders-in-psychiatry-what-does-the-clinician-need-to-know
#11
REVIEW
Chelsea Lowther, Gregory Costain, Danielle A Baribeau, Anne S Bassett
PURPOSE OF REVIEW: The purpose of this review is to summarize the role of genomic disorders in various psychiatric conditions and to highlight important recent advances in the field that are of potential clinical relevance. RECENT FINDINGS: Genomic disorders are caused by large rare recurrent deletions and duplications at certain chromosomal "hotspots" (e.g., 22q11.2, 16p11.2, 15q11-q13, 1q21.1, 15q13.3) across the genome. Most overlap multiple genes, affect development, and are associated with variable cognitive and other neuropsychiatric expression...
September 20, 2017: Current Psychiatry Reports
https://www.readbyqxmd.com/read/28921525/comorbid-symptoms-of-inattention-autism-and-executive-cognition-in-youth-with-putative-genetic-risk
#12
Anne B Arnett, Brianna E Cairney, Arianne S Wallace, Jennifer Gerdts, Tychele N Turner, Evan E Eichler, Raphael A Bernier
BACKGROUND: Symptoms of autism spectrum disorder (ASD) and inattention (IA) are highly comorbid and associated with deficits in executive cognition. Cognitive deficits have been posited as candidate endophenotypes of psychiatric traits, but few studies have conceptualized cognitive deficits as psychiatric comorbidities. The latter model is consistent with a latent factor reflecting broader liability to neuropsychological dysfunction, and explains heterogeneity in the cognitive profile of individuals with ASD and IA...
September 18, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28910929/-cross-sectional-survey-of-autism-spectrum-disorders-in-children-aged-0-6-years-in-hainan-province
#13
L Li, X L Li, W X Wu, X F Cai, X L Fan, X H Wei, T T Sun
Objective: To understand the prevalence of autism spectrum disorders (ASD) in children aged 0-6 years old and influencing factors in Hainan province. Methods: A total of 37 862 children aged 0-6 years were selected from 18 counties in Hainan province for a screening by using questionnaire of"warning signs in child development", then field diagnosis was made, and general descriptive statistic analysis was conducted. The prevalence of ASD and related factors were analyzed with χ(2) test and unconditional logistic regression model...
September 10, 2017: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
https://www.readbyqxmd.com/read/28887386/fragile-x-mental-retardation-protein-restricts-small-dye-iontophoresis-entry-into-central-neurons
#14
Tyler Kennedy, Kendal Broadie
Fragile X Mental Retardation Protein (FMRP) loss causes Fragile X syndrome (FXS), a major disorder characterized by autism, intellectual disability, hyperactivity and seizures. FMRP is both an RNA- and channel-binding regulator, with critical roles in neural circuit formation and function. However, it remains unclear how these FMRP activities relate to each other and how dysfunction in their absence underlies FXS neurological symptoms. In testing circuit level defects in the Drosophila FXS model, we discovered a completely unexpected and highly robust neuronal dye iontophoresis phenotype in the well-mapped Giant Fiber (GF) circuit...
September 8, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28861935/children-with-autism-spectrum-disorder-who-improve-with-fever-insights-from-the-simons-simplex-collection
#15
Rebecca Grzadzinski, Catherine Lord, Stephan J Sanders, Donna Werling, Vanessa H Bal
Literature indicates that some children with ASD may show behavioral improvements during fever; however, little is known about the behavioral profiles of these children. This study aims to (a) investigate the subset of children who show parent-reported behavioral improvements associated with fever and (b) compare the demographic, behavioral, and genetic characteristics of this subset of children to children whose parents report no change during fever. Parents of 2,152 children from the Simons Simplex Collection provided information about whether and in which areas their child improved during fever...
August 31, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28852712/further-investigations-of-the-w-test-for-pairwise-epistasis-testing
#16
Richard Howey, Heather J Cordell
Background: In a recent paper, a novel W-test for pairwise epistasis testing was proposed that appeared, in computer simulations, to have higher power than competing alternatives. Application to genome-wide bipolar data detected significant epistasis between SNPs in genes of relevant biological function. Network analysis indicated that the implicated genes formed two separate interaction networks, each containing genes highly related to autism and neurodegenerative disorders. Methods: Here we investigate further the properties and performance of the W-test via theoretical evaluation, computer simulations and application to real data...
2017: Wellcome Open Research
https://www.readbyqxmd.com/read/28846756/prevalence-of-pathogenic-copy-number-variation-in-adults-with-pediatric-onset-epilepsy-and-intellectual-disability
#17
Felippe Borlot, Brigid M Regan, Anne S Bassett, D James Stavropoulos, Danielle M Andrade
Importance: Copy number variation (CNV) is an important cause of neuropsychiatric disorders. Little is known about the role of CNV in adults with epilepsy and intellectual disability. Objectives: To evaluate the prevalence of pathogenic CNVs and identify possible candidate CNVs and genes in patients with epilepsy and intellectual disability. Design, Setting, and Participants: In this cross-sectional study, genome-wide microarray was used to evaluate a cohort of 143 adults with unexplained childhood-onset epilepsy and intellectual disability who were recruited from the Toronto Western Hospital epilepsy outpatient clinic from January 1, 2012, through December 31, 2014...
August 28, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28819289/escrt-iii-membrane-trafficking-misregulation-contributes-to-fragile-x-syndrome-synaptic-defects
#18
Dominic J Vita, Kendal Broadie
The leading cause of heritable intellectual disability (ID) and autism spectrum disorders (ASD), Fragile X syndrome (FXS), is caused by loss of the mRNA-binding translational suppressor Fragile X Mental Retardation Protein (FMRP). In the Drosophila FXS disease model, we found FMRP binds shrub mRNA (human Chmp4) to repress Shrub expression, causing overexpression during the disease state early-use critical period. The FXS hallmark is synaptic overelaboration causing circuit hyperconnectivity. Testing innervation of a central brain learning/memory center, we found FMRP loss and Shrub overexpression similarly increase connectivity...
August 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28808521/replicative-genetic-association-study-between-functional-polymorphisms-in-avpr1a-and-social-behavior-scales-of-autism-spectrum-disorder-in-the-korean-population
#19
So Young Yang, Soon Ae Kim, Gang Min Hur, Mira Park, Jong-Eun Park, Hee Jeong Yoo
BACKGROUND: Arginine vasopressin has been shown to affect social and emotional behaviors, which is mediated by the arginine vasopressin receptor (AVPR1A). Genetic polymorphisms in the AVPR1A promoter region have been identified to be associated with susceptibility to social deficits in autism spectrum disorder (ASD). We hypothesize that alleles of polymorphisms in the promoter region of AVPR1A may differentially interact with certain transcriptional factors, which in turn affect quantitative traits, such as sociality, in children with autism...
2017: Molecular Autism
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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