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fetal autism

Andrea G Edlow
There is a growing body of evidence from both human epidemiologic and animal studies that prenatal and lactational exposure to maternal obesity and high-fat diet are associated with neurodevelopmental and psychiatric disorders in offspring. These disorders include cognitive impairment, autism spectrum disorders, attention deficit hyperactivity disorder, cerebral palsy, anxiety and depression, schizophrenia, and eating disorders. This review synthesizes human and animal data linking maternal obesity and high-fat diet consumption to abnormal fetal brain development and neurodevelopmental and psychiatric morbidity in offspring...
September 29, 2016: Prenatal Diagnosis
Dustin Scheinost, Rajita Sinha, Sarah N Cross, Soo Hyun Kwon, Gordon Sze, R Todd Constable, Laura R Ment
Human neurodevelopment requires the organization of neural elements into complex structural and functional networks called the connectome. Emerging data suggest that prenatal exposure to maternal stress plays a role in the wiring, or miswiring, of the developing connectome. Stress-related symptoms are common in women during pregnancy and are risk factors for neurobehavioral disorders ranging from autism spectrum disorder, attention deficit hyperactivity disorder, and addiction, to major depression and schizophrenia...
September 27, 2016: Pediatric Research
Stefanie Atsem, Juliane Reichenbach, Ramya Potabattula, Marcus Dittrich, Caroline Nava, Christel Depienne, Lena Böhm, Simone Rost, Thomas Hahn, Martin Schorsch, Thomas Haaf, Nady El Hajj
Children of older fathers carry an increased risk for developing autism and other disorders. To elucidate the underlying mechanisms, we investigated the correlation of sperm DNA methylation with paternal age and its impact on the epigenome of the offspring. Methylation levels of 9 candidate genes and LINE-1 repeats were quantified by bisulfite pyrosequencing in sperm of 162 donors and 191 cord blood of resulting children (conceived by IVF/ICSI with the same sperm samples). Four genes showed a significant negative correlation between sperm methylation and paternal age...
September 23, 2016: Human Molecular Genetics
A Desai, J M Sequeira, E V Quadros
Folate receptor alpha (FRα) autoantibodies have been associated with fetal abnormalities and cerebral folate deficiency-related developmental disorders. Over 70% of the children with autism spectrum disorders (ASD) are positive for these autoantibodies and high-dose folinic acid is beneficial in treating these children. Here we show that antibodies (Abs) to the rat FRα administered during gestation produce communication, learning and cognitive deficits in a rat model that can be prevented by folinic acid and dexamethasone...
September 20, 2016: Molecular Psychiatry
Yinon Gilboa, Sharon Perlman, Naomi Pode-Shakked, Ben Pode-Shakked, Alon Shrim, Einat Azaria-Lahav, Benjamin Dekel, Hagith Yonath, Michal Berkenstadt, Reuven Achiron
OBJECTIVE: The linkage between 17q12 microdeletions, renal anomalies and higher risk for neuro-developmental disorders is well described in the literature. The current study presents prenatal diagnosis of normal-sized hyperechogenic fetal kidneys leading to the diagnosis of 17q12 deletion syndrome and autistic spectrum disorder. METHODS: Over a period of nine years in a single referral center, seven fetuses were diagnosed with hyperechogenic renal parenchyma and followed prospectively...
September 16, 2016: Prenatal Diagnosis
D Sarrouilhe, C Dejean
The etiology of autism spectrum disorders (ASD) is believed to be multifactorial and to involve genetic and environmental components. Environmental chemical exposures are increasingly understood to be important in causing neurotoxicity in fetuses and newborns. Recent data from the Centers for Disease Control and Prevention in the United States suggest a substantial increase in ASD prevalence, only partly explicable by factors such as diagnostic substitution. Bisphenol A (BPA) is an ubiquitous xenoestrogen widely employed in a variety of consumer products including plastic and metal food and beverage containers, dental sealants and fillings, medical equipment and thermal receipts...
September 9, 2016: L'Encéphale
Nelly Padilla, Peter Fransson, Antonio Donaire, Francesc Figueras, Angela Arranz, Magdalena Sanz-Cortés, Violeta Tenorio, Núria Bargallo, Carme Junqué, Hugo Lagercrantz, Ulrika Ådén, Eduard Gratacós
Fetal growth restriction (FGR) affects brain development in preterm infants, but little is known about its effects on resting-state functional connectivity. We compared 20 preterm infants, born at <34 weeks of gestation with abnormal antenatal Doppler measurements and birth weights <10th percentile, with 20 appropriate for gestational age preterm infants of similar gestational age and 20 term infants. They were scanned without sedation at 12 months of age and screened for autistic traits at 26 months...
September 6, 2016: Cerebral Cortex
Christopher L Muller, Allison Mj Anacker, Tiffany D Rogers, Nick Goeden, Elizabeth H Keller, C Gunnar Forsberg, Travis M Kerr, Carly LA Wender, George M Anderson, Gregg D Stanwood, Randy D Blakely, Alexandre Bonnin, Jeremy Veenstra-VanderWeele
Biomarker, neuroimaging, and genetic findings implicate the serotonin transporter (SERT) in autism spectrum disorder (ASD). Previously, we found that adult male mice expressing the autism-associated SERT Ala56 variant have altered central serotonin (5-HT) system function, as well as elevated peripheral blood 5-HT levels. Early in gestation, before midbrain 5-HT projections have reached the cortex, peripheral sources supply 5-HT to the forebrain, suggesting that altered maternal or placenta 5-HT system function could impact the developing embryo...
August 23, 2016: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
Imen Hadjkacem, Héla Ayadi, Mariem Turki, Sourour Yaich, Khaoula Khemekhem, Adel Walha, Leila Cherif, Yousr Moalla, Farhat Ghribi
OBJECTIVE: To identify prenatal, perinatal and postnatal risk factors in children with autism spectrum disorder (ASD) by comparing them to their siblings without autistic disorders. METHOD: The present study is cross sectional and comparative. It was conducted over a period of three months (July-September 2014). It included 101 children: 50 ASD's children diagnosed according to DSM-5 criteria and 51 unaffected siblings. The severity of ASD was assessed by the CARS...
August 12, 2016: Jornal de Pediatria
Jolien Rijlaarsdam, Marinus H van IJzendoorn, Frank C Verhulst, Vincent W V Jaddoe, Janine F Felix, Henning Tiemeier, Marian J Bakermans-Kranenburg
LAY ABSTRACT: The gene encoding the oxytocin receptor (OXTR), localized on chromosome 3p25, is considered a promising candidate for explaining genetic vulnerability to autistic traits. Although several lines of evidence implicate OXTR SNP rs53576 (G/A) variation in social behavior, findings have been inconsistent, possibly because DNA methylation after stress exposure was eliminated from consideration. This study investigated the main and interactive effects of OXTR rs53576 genotype, stress exposure, and OXTR methylation on child autistic traits...
August 13, 2016: Autism Research: Official Journal of the International Society for Autism Research
Moriya Gamliel, Karen L Anderson, Richard P Ebstein, Nurit Yirmiya, David Mankuta
Killer-cell immunoglobulin-like receptors (KIRs) are a family of cell surface proteins found on natural killer cells, which are components of the innate immune system. KIRs recognize MHC class I proteins, mainly HLA-C and are further divided into two groups: short-tailed 2/3DS activating receptors and long-tailed 2/3DL inhibitory receptors. Based on the Barker Hypothesis, the origins of illness can be traced back to embryonic development in the uterus, and since KIR:HLA interaction figures prominently in the maternal-fetal interface, we investigated whether specific KIR:HLA combinations may be found in autism spectrum disorders (ASD) children compared with their healthy parents...
2016: Frontiers in Pediatrics
Eberhard Schneider, Marcus Dittrich, Julia Böck, Indrajit Nanda, Tobias Müller, Larissa Seidmann, Tim Tralau, Danuta Galetzka, Nady El Hajj, Thomas Haaf
Normal human brain development is dependent on highly dynamic epigenetic processes for spatial and temporal gene regulation. Recent work identified wide-spread changes in DNA methylation during fetal brain development. We profiled CpG methylation in frontal cortex of 27 fetuses from gestational weeks 12-42, using Illumina 450K methylation arrays. Sites showing genome-wide significant correlation with gestational age were compared to a publicly available data set from gestational weeks 3-26. Altogether, we identified 2016 matching developmentally regulated differentially methylated positions (m-dDMPs): 1767m-dDMPs were hypermethylated and 1149 hypomethylated during fetal development...
October 30, 2016: Gene
Stefano Nardone, Evan Elliott
Recent studies have firmly established that the etiology of autism includes both genetic and environmental components. However, we are only just beginning to elucidate the environmental factors that might be involved in the development of autism, as well as the molecular mechanisms through which they function. Mounting epidemiological and biological evidence suggest that prenatal factors that induce a more activated immune state in the mother are involved in the development of autism. In parallel, molecular studies have highlighted the role of epigenetics in brain development as a process susceptible to environmental influences and potentially causative of autism spectrum disorders (ASD)...
2016: Frontiers in Neuroscience
Karson T F Kung, Debra Spencer, Vickie Pasterski, Sharon Neufeld, Vivette Glover, Thomas G O'Connor, Peter C Hindmarsh, Ieuan A Hughes, Carlo L Acerini, Melissa Hines
BACKGROUND: There is a marked male preponderance in autism spectrum conditions. The extreme male brain theory and the fetal androgen theory of autism suggest that elevated prenatal testosterone exposure is a key contributor to autistic traits. The current paper reports findings from two separate studies that test this hypothesis. METHODS: A parent-report questionnaire, the Childhood Autism Spectrum Test (CAST), was employed to measure autistic traits in both studies...
July 27, 2016: Journal of Child Psychology and Psychiatry, and Allied Disciplines
Asher Ornoy, Liza Weinstein-Fudim, Zivanit Ergaz
Autism spectrum disorder (ASD) affecting about 1% of all children is associated, in addition to complex genetic factors, with a variety of prenatal, perinatal, and postnatal etiologies. In addition, ASD is often an important clinical presentation of some well-known genetic syndromes in human. We discuss these syndromes as well as the role of the more important prenatal factors affecting the fetus throughout pregnancy which may also be associated with ASD. Among the genetic disorders we find Fragile X, Rett syndrome, tuberous sclerosis, Timothy syndrome, Phelan-McDermid syndrome, Hamartoma tumor syndrome, Prader-Willi and Angelman syndromes, and a few others...
2016: Frontiers in Neuroscience
Elodie Portales-Casamar, Alexandre A Lussier, Meaghan J Jones, Julia L MacIsaac, Rachel D Edgar, Sarah M Mah, Amina Barhdadi, Sylvie Provost, Louis-Philippe Lemieux-Perreault, Max S Cynader, Albert E Chudley, Marie-Pierre Dubé, James N Reynolds, Paul Pavlidis, Michael S Kobor
BACKGROUND: Prenatal alcohol exposure is the leading preventable cause of behavioral and cognitive deficits, which may affect between 2 and 5 % of children in North America. While the underlying mechanisms of alcohol's effects on development remain relatively unknown, emerging evidence implicates epigenetic mechanisms in mediating the range of symptoms observed in children with fetal alcohol spectrum disorder (FASD). Thus, we investigated the effects of prenatal alcohol exposure on genome-wide DNA methylation in the NeuroDevNet FASD cohort, the largest cohort of human FASD samples to date...
2016: Epigenetics & Chromatin
Peter G Wells, Shama Bhatia, Danielle M Drake, Lutfiya Miller-Pinsler
In utero exposure of mouse progeny to alcohol (ethanol, EtOH) and methamphetamine (METH) causes substantial postnatal neurodevelopmental deficits. One emerging pathogenic mechanism underlying these deficits involves fetal brain production of reactive oxygen species (ROS) that alter signal transduction, and/or oxidatively damage cellular macromolecules like lipids, proteins, and DNA, the latter leading to altered gene expression, likely via non-mutagenic mechanisms. Even physiological levels of fetal ROS production can be pathogenic in biochemically predisposed progeny, and ROS formation can be enhanced by drugs like EtOH and METH, via activation/induction of ROS-producing NADPH oxidases (NOX), drug bioactivation to free radical intermediates by prostaglandin H synthases (PHS), and other mechanisms...
June 2016: Birth Defects Research. Part C, Embryo Today: Reviews
Christopher R Leon Guerrero, Sheel Pathak, Dorothy K Grange, Gautam K Singh, Colin G Nichols, Jin-Moo Lee, Katie D Vo
OBJECTIVE: To describe the neurologic and neuroimaging manifestations associated with Cantú syndrome. METHODS: We evaluated 10 patients with genetically confirmed Cantú syndrome. All adult patients, and pediatric patients who were able to cooperate and complete the studies, underwent neuroimaging, including vascular imaging. A salient neurologic history and examination was obtained for all patients. RESULTS: We observed diffusely dilated and tortuous cerebral blood vessels in all patients who underwent vascular imaging...
July 19, 2016: Neurology
E I Traboulsi, D Vanderveen, D Morrison, C D Drews-Botsch, S R Lambert
PurposeFive-year prospective data on children enrolled in the Infant Aphakia Treatment Study (IATS) provided an opportunity to explore ocular and systemic associations in patients with a unilateral congenital cataract.MethodsInfants <7 months of age with a unilateral cataract were eligible for IATS screening. We reviewed data pertaining to the exclusion of patients as well as data collected on standardized study forms used at any time for documentation of ocular or systemic disorders.ResultsOverall, 227 infants were referred for possible enrollment...
September 2016: Eye
Paula Krakowiak, Cheryl K Walker, Daniel Tancredi, Irva Hertz-Picciotto, Judy Van de Water
Approximately 23% of mothers of children with autism spectrum disorder (ASD) produce specific patterns of autoantibodies to fetal brain proteins that have been detected in only 1% of mothers of typically developing children. The biological mechanisms underlying the development of ASD-specific maternal autoantibodies are poorly understood. We sought to determine whether ASD-specific maternal autoantibodies identified postnatally were associated with metabolic conditions (MCs) during gestation. Participants were 227 mothers of 2-5 year old children with confirmed ASD, enrolled in CHARGE (Childhood Autism Risk from Genetics and the Environment) between January 2003 and April 2008, and from whom blood samples were collected and analyzed for anti-fetal brain autoantibodies (Ab+)...
June 17, 2016: Autism Research: Official Journal of the International Society for Autism Research
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