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Genetic tests autism

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https://www.readbyqxmd.com/read/28229350/-set-in-stone-or-ray-of-hope-parents-beliefs-about-cause-and-prognosis-after-genomic-testing-of-children-diagnosed-with-asd
#1
Marian Reiff, Eva Bugos, Ellen Giarelli, Barbara A Bernhardt, Nancy B Spinner, Pamela L Sankar, Surabhi Mulchandani
Despite increasing utilization of chromosomal microarray analysis (CMA) for autism spectrum disorders (ASD), limited information exists about how results influence parents' beliefs about etiology and prognosis. We conducted in-depth interviews and surveys with 57 parents of children with ASD who received CMA results categorized as pathogenic, negative or variant of uncertain significance. Parents tended to incorporate their child's CMA results within their existing beliefs about the etiology of ASD, regardless of CMA result...
February 22, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28223908/elevated-urinary-glyphosate-and-clostridia-metabolites-with-altered-dopamine-metabolism-in-triplets-with-autistic-spectrum-disorder-or-suspected-seizure-disorder-a-case-study
#2
William Shaw
CONTEXT: Autism is a neurodevelopmental disorder for which a number of genetic, environmental, and nutritional causes have been proposed. Glyphosate is used widely as a crop desiccant and as an herbicide in fields of genetically modified foods that are glyphosate resistant. Several researchers have proposed that it may be a cause of autism, based on epidemiological data that correlates increased usage of glyphosate with an increased autism rate. OBJECTIVE: The current study was intended to determine if excessive glyphosate was present in the triplets and their parents and to evaluate biochemical findings for the family to determine the potential effects of its presence...
February 2017: Integrative Medicine
https://www.readbyqxmd.com/read/28220926/genetic-testing-for-autism-spectrum-disorder-is-lacking-evidence-of-cost-effectiveness-a-systematic-review
#3
Andreas Ziegler, Wolfgang Rudolph-Rothfeld, Reinhard Vonthein
BACKGROUND: Autism Spectrum Disorder (ASD) is a highly heritable neural development disorder characterized by social impairment. The earlier the diagnosis is made, the higher are the chances of obtaining relief of symptoms. A very early diagnosis uses molecular genetic tests, which are also offered commercially. OBJECTIVE: Systematic review of the economic impact of genetic tests in ASD. METHODS: We performed a systematic search of databases Pubmed, Medline, Cochrane, Econlit and the NHS Center for Reviews and Dissemination for articles in English and German from January 1, 2000 to December 31, 2015...
February 21, 2017: Methods of Information in Medicine
https://www.readbyqxmd.com/read/28181877/an-in-silico-biomarker-based-method-for-the-evaluation-of-virtual-neuropsychiatric-drug-effects
#4
Peter J Siekmeier
The recent explosion in neuroscience research has markedly increased our understanding of the neurobiological correlates of many psychiatric illnesses, but this has unfortunately not translated into more effective pharmacologic treatments for these conditions. At the same time, researchers have increasingly sought out biological markers, or biomarkers, as a way to categorize psychiatric illness, as these are felt to be closer to underlying genetic and neurobiological vulnerabilities. While biomarker-based drug discovery approaches have tended to employ in vivo (e...
February 9, 2017: Neural Computation
https://www.readbyqxmd.com/read/28180026/chromosomal-microarrays-understanding-genetics-of-neurodevelopmental-disorders-and-congenital-anomalies
#5
REVIEW
Jill A Rosenfeld, Ankita Patel
Chromosomal microarray (CMA) testing, used to identify DNA copy number variations (CNVs), has helped advance knowledge about genetics of human neurodevelopmental disease and congenital anomalies. It has aided in discovering new CNV syndromes and uncovering disease genes. It has discovered CNVs that are not fully penetrant and/or cause a spectrum of phenotypes, including intellectual disability, autism, schizophrenia, and dysmorphisms. Such CNVs can pose challenges to genetic counseling. They also have helped increase knowledge of genetic risk factors for neurodevelopmental disease and raised awareness of possible shared etiologies among these variable phenotypes...
March 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28174603/mlpa-analysis-in-a-cohort-of-patients-with-autism
#6
Sara Peixoto, Joana B Melo, José Ferrão, Luís M Pires, Nuno Lavoura, Marta Pinto, Guiomar Oliveira, Isabel M Carreira
BACKGROUND: Autism is a global neurodevelopmental disorder which generally manifests during the first 2 years and continues throughout life, with a range of symptomatic variations. Epidemiological studies show an important role of genetic factors in autism and several susceptible regions and genes have been identified. The aim of our study was to validate a cost-effective set of commercial Multiplex Ligation dependent Probe Amplification (MLPA) and methylation specific multiplex ligation dependent probe amplification (MS-MLPA) test in autistic children refered by the neurodevelopmental center and autism unit of a Paediatric Hospital...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28163867/umbilical-cord-blood-androgen-levels-and-asd-related-phenotypes-at-12-and-36%C3%A2-months-in-an-enriched-risk-cohort-study
#7
Bo Y Park, Brian K Lee, Igor Burstyn, Loni P Tabb, Jeff A Keelan, Andrew J O Whitehouse, Lisa A Croen, Margaret D Fallin, Irva Hertz-Picciotto, Owen Montgomery, Craig J Newschaffer
BACKGROUND: Autism spectrum disorder (ASD) affects more than 1% of children in the USA. The male-to-female prevalence ratio of roughly 4:1 in ASD is a well-recognized but poorly understood phenomenon. An explicit focus on potential etiologic pathways consistent with this sex difference, such as those involving prenatal androgen exposure, may help elucidate causes of ASD. Furthermore, the multi-threshold liability model suggests that the genetic mechanisms in females with ASD may be distinct and may modulate ASD risk in families with female ASD in the pedigree...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28137374/maternal-immune-activation-and-autism-spectrum-disorder-from-rodents-to-nonhuman-and-human-primates
#8
REVIEW
Milo Careaga, Takeshi Murai, Melissa D Bauman
A subset of women who are exposed to infection during pregnancy have an increased risk of giving birth to a child who will later be diagnosed with a neurodevelopmental or neuropsychiatric disorder. Although epidemiology studies have primarily focused on the association between maternal infection and an increased risk of offspring schizophrenia, mounting evidence indicates that maternal infection may also increase the risk of autism spectrum disorder. A number of factors, including genetic susceptibility, the intensity and timing of the infection, and exposure to additional aversive postnatal events, may influence the extent to which maternal infection alters fetal brain development and which disease phenotype (autism spectrum disorder, schizophrenia, other neurodevelopmental disorders) is expressed...
March 1, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/28132124/peabody-picture-vocabulary-test-proxy-for-verbal-iq-in-genetic-studies-of-autism-spectrum-disorder
#9
Kate E Krasileva, Stephan J Sanders, Vanessa Hus Bal
This study assessed the utility of a brief assessment (the Peabody Picture Vocabulary Test-4th Edition; PPVT4) as a proxy for verbal IQ (VIQ) in large-scale studies of autism spectrum disorder (ASD). In a sample of 2,420 proband with ASD, PPVT4:IQ correlations were strong. PPVT4 scores were, on average, 5.46 points higher than VIQ; 79% of children had PPVT4 scores within one standard deviation (+/-15) of their VIQ and 90% were similarly classified as having abilities above or below 70 on both measures. Distributions of PPVT4 and VIQ by de novo mutation status were highly similar...
January 28, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28117411/newborn-chicks-show-inherited-variability-in-early-social-predispositions-for-hen-like-stimuli
#10
Elisabetta Versace, Ilaria Fracasso, Gabriele Baldan, Antonella Dalle Zotte, Giorgio Vallortigara
Predispositions of newborn vertebrates to preferentially attend to living beings and learn about them are pervasive. Their disturbance (e.g. in neonates at risk for autism), may compromise the proper development of a social brain. The genetic bases of such predispositions are unknown. We use the well-known visual preferences of newly-hatched chicks (Gallus gallus) for the head/neck region of the hen to investigate the presence of segregating variation in the predispositions to approach a stuffed hen vs. a scrambled version of it...
January 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28101829/autism-spectrum-disorders%C3%A2-diagnosis-and-management
#11
REVIEW
Sharmila Banerjee Mukherjee
Autism Spectrum Disorder (ASD) is a neuro-developmental disorder commonly seen in children. It is characterized by age inappropriate, impaired social communication and the presence of stereotypic behavior. This disorder is hypothesized to result from cerebral dysfunction arising from a complex interaction between genetic, epigenetic and environmental factors. ASD should be suspected in children failing ASD specific screening tests, in the presence of red flags in social, language and/or play domains, in children with developmental or language delay, abnormal behavior, poor school performance or in those who are at high risk...
January 19, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28077292/general-and-specific-factors-in-the-processing-of-faces
#12
Roeland J Verhallen, Jenny M Bosten, Patrick T Goodbourn, Adam J Lawrance-Owen, Gary Bargary, J D Mollon
The ability to recognize faces varies considerably between individuals, but does performance co-vary for tests of different aspects of face processing? For 397 participants (of whom the majority were university students) we obtained scores on the Mooney Face Test, Glasgow Face Matching Test (GFMT), Cambridge Face Memory Test (CFMT) and Composite Face Test. Overall performance was significantly correlated for each pair of tests, and we suggest the term f for the factor underlying this pattern of positive correlations...
January 7, 2017: Vision Research
https://www.readbyqxmd.com/read/28035465/gene-based-analyses-reveal-novel-genetic-overlap-and-allelic-heterogeneity-across-five-major-psychiatric-disorders
#13
Huiying Zhao, Dale R Nyholt
Studies using genome-wide association (GWA) single nucleotide polymorphism (SNP) level data have indicated genetic overlap across the five major disorders in the Psychiatric Genomics Consortium (PGC): attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), bipolar disorder (BPD), major depressive disorder (MDD), and schizophrenia (SCZ). However, such SNP-level analyses reveal little about the underlying biology and are reliant on correlated SNP effects across disorders. In contrast to SNPs, genes are more closely related to biology and gene-based tests can incorporate allelic heterogeneity...
December 29, 2016: Human Genetics
https://www.readbyqxmd.com/read/28025742/loss-of-function-of-ptpr-%C3%AE-and-%C3%AE-observed-in-sporadic-schizophrenia-causes-brain-region-specific-deregulation-of-monoamine-levels-and-altered-behavior-in-mice
#14
Arnaud Cressant, Veronique Dubreuil, Jing Kong, Thorsten Manfred Kranz, Francoise Lazarini, Jean-Marie Launay, Jacques Callebert, Jan Sap, Dolores Malaspina, Sylvie Granon, Sheila Harroch
RATIONALE: The receptor protein tyrosine phosphatase PTPRG has been genetically associated with psychiatric disorders and is a ligand for members of the contactin family, which are themselves linked to autism spectrum disorders. OBJECTIVE: Based on our finding of a phosphatase-null de novo mutation in PTPRG associated with a case of sporadic schizophrenia, we used PTPRG knockout (KO) mice to model the effect of a loss-of-function mutation. We compared the results with loss-of-function in its close paralogue PTPRZ, previously associated with schizophrenia...
December 26, 2016: Psychopharmacology
https://www.readbyqxmd.com/read/28017919/relationship-of-a-common-oxtr-gene-variant-to-brain-structure-and-default-mode-network-function-in-healthy-humans
#15
Junping Wang, Meredith N Braskie, George W Hafzalla, Joshua Faskowitz, Katie L McMahon, Greig I de Zubicaray, Margaret J Wright, Chunshui Yu, Paul M Thompson
A large body of research suggests that oxytocin receptor (OXTR) gene polymorphisms may influence both social behaviors and psychiatric conditions related to social deficits, such as autism spectrum disorders (ASDs), schizophrenia, and mood and anxiety disorders. However, the neural mechanism underlying these associations is still unclear. Relative to controls, patients with these psychiatric conditions show differences in brain structure, and in resting state fMRI (rs-fMRI) signal synchronicity among default mode network (DMN) regions (also known as functional connectivity)...
February 15, 2017: NeuroImage
https://www.readbyqxmd.com/read/27993229/development-of-two-dimensional-measures-of-restricted-and-repetitive-behavior-in-parents-and-children
#16
David W Evans, Mirko Uljarević, Laina G Lusk, Eva Loth, Thomas Frazier
OBJECTIVE: Restricted and repetitive behaviors (RRBs) are a heterogeneous set of behaviors common across a wide range of neurodevelopmental disorders (NDDs) and neuropsychiatric disorders (NPDs) that extend well into the general population. This study introduces 2 dimensional measurements of RRBs for use in typical and clinical populations from infancy to adulthood. METHOD: The Childhood Routines Inventory-Revised (CRI-R) and the Adult Routines Inventory (ARI) were created and administered online to a nationally representative cohort of 3,108 parents with 3,032 children (range 12 months to 17 years 11 months)...
January 2017: Journal of the American Academy of Child and Adolescent Psychiatry
https://www.readbyqxmd.com/read/27984339/diagnostic-evaluation-of-children-with-autism-spectrum-disorders-clinician-compliance-with-published-guidelines
#17
Alexis Tchaconas, Andrew Adesman
OBJECTIVE: To assess to what extent child neurologists (CNs) and developmental-behavioral pediatricians (DBPs) order diagnostic tests that are not recommended/indicated and/or fail to order tests that are recommended/indicated when evaluating children with an autism spectrum disorder (ASD). METHOD: CNs and DBPs in the United States were asked which laboratory tests they would "routinely order" for a preschool child with ASD and IQ = 58 (ASD + Intellectual Disability (ID)), and a preschool child with ASD and IQ = 85 (ASD-ID)...
January 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/27965598/defining-precision-medicine-approaches-to-autism-spectrum-disorders-concepts-and-challenges
#18
Eva Loth, Declan G Murphy, Will Spooren
The tremendous clinical and etiological variability between individuals with autism spectrum disorder (ASD) has made precision medicine the most promising treatment approach. It aims to combine new pathophysiologically based treatments with objective tests (stratification biomarkers) to predict which treatment may be beneficial for a particular person. Here we discuss significant advances and current challenges for this approach: rare monogenic forms of ASD have provided a major breakthrough for the identification of treatment targets by providing a means to trace causal links from a gene to specific molecular alterations and biological pathways...
2016: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/27965028/two-de-novo-mutations-in-an-autistic-child-who-had-previously-undergone-transplantation-for-dilated-cardiomyopathy-the-importance-of-keeping-an-open-mind
#19
Umair Sajid, Bob Argiropoulos, Xing-Chang Wei, Jillian S Parboosingh, Ryan E Lamont, Aneal Khan, Steven C Greenway
We report the finding of 2 de novo mutations in an 8-year-old boy with developmental delay and autism who underwent heart transplantation at 1 year of age for idiopathic dilated cardiomyopathy. We identified a de novo microdeletion at chromosome 2p16.3 involving the neurexin-1 (NRXN1) gene and a de novo pathologic variant (Pro838Leu) in the myosin heavy chain 7 (MYH7) gene. This case emphasizes the importance of comprehensive genetic evaluation in patients with cardiomyopathy, particularly if they have extracardiac abnormalities, and the necessity of interpreting variants with attention to the phenotype...
September 26, 2016: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/27933285/developmental-profile-and-diagnoses-in-children-presenting-with-motor-stereotypies
#20
Francesco Cardona, Francesca Valente, Daniela Miraglia, Caterina D'Ardia, Valentina Baglioni, Flavia Chiarotti
INTRODUCTION: Motor stereotypies represent a typical example of the difficulty in distinguishing non-clinical behaviors (physiological and transient) from symptoms or among different disorders ["primary stereotypies," associated with autistic spectrum disorder (ASD), intellectual disabilities, genetic syndromes, and sensory impairment]. The aim of this study was to obtain an accurate assessment on the relationship between stereotypies and neurodevelopmental disorders. METHODS: We studied 23 children (3 girls), aged 36-95 months, who requested a consultation due to the persistence or increased severity of motor stereotypies...
2016: Frontiers in Pediatrics
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