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https://www.readbyqxmd.com/read/28323282/an-autism-associated-serotonin-transporter-variant-disrupts-multisensory-processing
#1
J K Siemann, C L Muller, C G Forsberg, R D Blakely, J Veenstra-VanderWeele, M T Wallace
Altered sensory processing is observed in many children with autism spectrum disorder (ASD), with growing evidence that these impairments extend to the integration of information across the different senses (that is, multisensory function). The serotonin system has an important role in sensory development and function, and alterations of serotonergic signaling have been suggested to have a role in ASD. A gain-of-function coding variant in the serotonin transporter (SERT) associates with sensory aversion in humans, and when expressed in mice produces traits associated with ASD, including disruptions in social and communicative function and repetitive behaviors...
March 21, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28316769/etiological-influences-on-the-stability-of-autistic-traits-from-childhood-to-early-adulthood-evidence-from-a-twin-study
#2
Mark J Taylor, Christopher Gillberg, Paul Lichtenstein, Sebastian Lundström
BACKGROUND: Autism spectrum disorders (ASD) are persistent and lifelong conditions. Despite this, almost all twin studies focus on childhood. This twin study investigated the stability of autistic traits from childhood to early adulthood and explored the degree to which any stability could be explained by genetic or environmental factors. METHODS: Parents of over 2500 twin pairs completed questionnaires assessing autistic traits when twins were aged either 9 or 12 years and again when twins were aged 18...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28299880/rates-of-autism-and-potential-risk-factors-in-children-with-congenital-heart-defects
#3
Jessica L Bean Jaworski, Thomas Flynn, Nancy Burnham, Jesse L Chittams, Therese Sammarco, Marsha Gerdes, Judy C Bernbaum, Robert R Clancy, Cynthia B Solot, Elaine H Zackai, Donna M McDonald-McGinn, J William Gaynor
OBJECTIVE: Atypical development, behavioral difficulties, and academic underachievement are common morbidities in children with a history of congenital heart defects and impact quality of life. Language and social-cognitive deficits have been described, which are associated with autism spectrum disorders. The current study aimed to assess the rates of autism spectrum disorders in a large sample of children with a history of congenital heart defects and to assess medical, behavioral, and individual factors that may be associated with the risk of autism spectrum disorders...
March 16, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28296209/the-urinary-1-h-nmr-metabolomics-profile-of-an-italian-autistic-children-population-and-their-unaffected-siblings
#4
Milena Lussu, Antonio Noto, Alice Masili, Andrea C Rinaldi, Angelica Dessì, Maria De Angelis, Andrea De Giacomo, Vassilios Fanos, Luigi Atzori, Ruggiero Francavilla
Autism spectrum disorders (ASD) make a dishomogeneous group of psychiatric diseases having either genetic and environmental components, including changes of the microbiota. The rate of diagnosis, based on a series of psychological tests and observed behavior, dramatically increased in the past few decades. Currently, no biological markers are available and the pathogenesis is not defined. The purpose of this study was to evaluate the potential use of (1) H-NMR metabolomics to analyze the global biochemical signature of ASD patients (n = 21) and controls (n = 21), these being siblings of autistic patients...
March 11, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28287253/the-rodent-forced-swim-test-measures-stress-coping-strategy-not-depression-like-behavior
#5
Kathryn G Commons, Aram B Cholanians, Jessica A Babb, Daniel G Ehlinger
The Forced Swim Test (FST) measures coping strategy to an acute inescapable stress and thus provides unique insight into the neural limb of the stress response. Stress, particularly chronic stress, is a contributing factor to depression in humans and depression is associated with altered response to stress. In addition, drugs that are effective antidepressants in humans typically promote active coping strategy in the FST. As a consequence passive coping in the FST has become loosely equated with depression and is often referred to as 'depression-like' behavior...
March 13, 2017: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/28275086/the-autism-epidemic-ethical-legal-and-social-issues-in-a-developmental-spectrum-disorder
#6
William D Graf, Geoffrey Miller, Leon G Epstein, Isabelle Rapin
Classic autism has gradually evolved into the concept of a larger "spectrum disorder." The rising prevalence of autism and autism spectrum disorder (autism/ASD) diagnoses can be largely attributed to broader diagnostic criteria, adoption of dimensional assessment strategies, increased awareness, linking of services to diagnosis, and the inclusion of milder neurodevelopmental differences bordering on normality. The spectrum disorder diagnosis raises numerous bioethical issues for individuals and society. Three groups of caregivers have important ethical, legal, and social obligations to individuals with autism/ASD: (1) families and advocates of individuals with autism/ASD; (2) health care and other professionals; and (3) governments...
March 8, 2017: Neurology
https://www.readbyqxmd.com/read/28260505/copy-number-variations-with-isolated-fetal-ventriculomegaly
#7
P Hu, Y Wang, R Sun, L Cao, X Chen, C Liu, C Luo, D Ma, W Wang, X Fu, W Shi, S Yi, K Zhang, H Liu, Z Xu
BACKGROUND: Copy Number Variations (CNVs) are an important genetic cause of a number of neurodevelopmental disorders (NDs). However, the association between CNVs and the development and prognosis of isolated fetal ventriculomegaly (IMV) is unclear. OBJECTIVES: To investigate possible associations between CNVs and the development of fetal IMV. METHODS: This retrospective study recruited 154 subjects with ultrasound-confirmed fetal IMV and 190 subjects in a control cohort who underwent a high-risk prenatal serum screening program...
March 3, 2017: Current Molecular Medicine
https://www.readbyqxmd.com/read/28253736/identification-of-developmental-and-behavioral-markers-associated-with-genetic-abnormalities-in-autism-spectrum-disorder
#8
Somer L Bishop, Cristan Farmer, Vanessa Bal, Elise B Robinson, A Jeremy Willsey, Donna M Werling, Karoline Alexandra Havdahl, Stephan J Sanders, Audrey Thurm
OBJECTIVE: Aside from features associated with risk of neurogenetic syndromes in general (e.g., cognitive impairment), limited progress has been made in identifying phenotype-genotype relationships in autism spectrum disorder (ASD). The objective of this study was to extend work in the Simons Simplex Collection by comparing the phenotypic profiles of ASD probands with or without identified de novo loss of function mutations or copy number variants in high-confidence ASD-associated genes or loci...
March 3, 2017: American Journal of Psychiatry
https://www.readbyqxmd.com/read/28251181/maternal-immunoreactivity-to-herpes-simplex-virus-2-and-risk-of-autism-spectrum-disorder-in-male-offspring
#9
Milada Mahic, Siri Mjaaland, Hege Marie Bøvelstad, Nina Gunnes, Ezra Susser, Michaeline Bresnahan, Anne-Siri Øyen, Bruce Levin, Xiaoyu Che, Deborah Hirtz, Ted Reichborn-Kjennerud, Synnve Schjølberg, Christine Roth, Per Magnus, Camilla Stoltenberg, Pål Surén, Mady Hornig, W Ian Lipkin
Maternal infections during pregnancy are associated with risk of neurodevelopmental disorders, including autism spectrum disorders (ASDs). Proposed pathogenetic mechanisms include fetal infection, placental inflammation, and maternal cytokines or antibodies that cross the placenta. The Autism Birth Cohort comprises mothers, fathers, and offspring recruited in Norway in 1999 to 2008. Through questionnaire screening, referrals, and linkages to a national patient registry, 442 mothers of children with ASD were identified, and 464 frequency-matched controls were selected...
January 2017: MSphere
https://www.readbyqxmd.com/read/28242872/the-familial-co-aggregation-of-asd-and-adhd-a-register-based-cohort-study
#10
L Ghirardi, I Brikell, R Kuja-Halkola, C M Freitag, B Franke, P Asherson, P Lichtenstein, H Larsson
Autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD) frequently co-occur. The presence of a genetic link between ASD and ADHD symptoms is supported by twin studies, but the genetic overlap between clinically ascertained ASD and ADHD remains largely unclear. We therefore investigated how ASD and ADHD co-aggregate in individuals and in families to test for the presence of a shared genetic liability and examined potential differences between low- and high-functioning ASD in the link with ADHD...
February 28, 2017: Molecular Psychiatry
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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