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neurodevelopmental disorder

Elena Boto, Niall Holmes, James Leggett, Gillian Roberts, Vishal Shah, Sofie S Meyer, Leonardo Duque Muñoz, Karen J Mullinger, Tim M Tierney, Sven Bestmann, Gareth R Barnes, Richard Bowtell, Matthew J Brookes
Imaging human brain function with techniques such as magnetoencephalography typically requires a subject to perform tasks while their head remains still within a restrictive scanner. This artificial environment makes the technique inaccessible to many people, and limits the experimental questions that can be addressed. For example, it has been difficult to apply neuroimaging to investigation of the neural substrates of cognitive development in babies and children, or to study processes in adults that require unconstrained head movement (such as spatial navigation)...
March 21, 2018: Nature
Patrick J Short, Jeremy F McRae, Giuseppe Gallone, Alejandro Sifrim, Hyejung Won, Daniel H Geschwind, Caroline F Wright, Helen V Firth, David R FitzPatrick, Jeffrey C Barrett, Matthew E Hurles
We previously estimated that 42% of patients with severe developmental disorders carry pathogenic de novo mutations in coding sequences. The role of de novo mutations in regulatory elements affecting genes associated with developmental disorders, or other genes, has been essentially unexplored. We identified de novo mutations in three classes of putative regulatory elements in almost 8,000 patients with developmental disorders. Here we show that de novo mutations in highly evolutionarily conserved fetal brain-active elements are significantly and specifically enriched in neurodevelopmental disorders...
March 21, 2018: Nature
Guillaume Huguet, Catherine Schramm, Elise Douard, Lai Jiang, Aurélie Labbe, Frédérique Tihy, Géraldine Mathonnet, Sonia Nizard, Emmanuelle Lemyre, Alexandre Mathieu, Jean-Baptiste Poline, Eva Loth, Roberto Toro, Gunter Schumann, Patricia Conrod, Zdenka Pausova, Celia Greenwood, Tomas Paus, Thomas Bourgeron, Sébastien Jacquemont
Importance;: Copy number variants (CNVs) classified as pathogenic are identified in 10% to 15% of patients referred for neurodevelopmental disorders. However, their effect sizes on cognitive traits measured as a continuum remain mostly unknown because most of them are too rare to be studied individually using association studies. Objective: To measure and estimate the effect sizes of recurrent and nonrecurrent CNVs on IQ. Design, Setting, and Participants: This study identified all CNVs that were 50 kilobases (kb) or larger in 2 general population cohorts (the IMAGEN project and the Saguenay Youth Study) with measures of IQ...
March 21, 2018: JAMA Psychiatry
Adina S Fischer, M Catalina Camacho, Tiffany C Ho, Susan Whitfield-Gabrieli, Ian H Gotlib
Importance: Adolescence is a neurodevelopmental period during which experience-dependent plasticity in brain circuitry may confer vulnerability to depression as well as resilience to disorder. Little is known, however, about the neural mechanisms that underlie resilience during this critical period of brain development. Objective: To examine neural functional connectivity correlates of resilience in adolescent females at high and low familial risk for depression who did and did not develop the disorder...
March 21, 2018: JAMA Psychiatry
Marta Concheiro, Marilyn A Huestis
Drug use during pregnancy constitutes a major preventable worldwide public health issue. Birth defects, growth retardation and neurodevelopmental disorders are associated with tobacco, alcohol or drugs of abuse exposure during pregnancy. Besides these adverse health effects, drug use during pregnancy also raises legal and social concerns. Identification and quantification of drug markers in maternal and newborn biological samples offers objective evidence of exposure and complements maternal questionnaires...
March 21, 2018: Bioanalysis
Shari I Lusskin, Sabrina J Khan, Carrie Ernst, Sally Habib, Madeleine E Fersh, Elizabeth S Albertini
Perinatal depression is associated with serious risks for the mother, baby, and family. When considering treating perinatal depression with a drug indicated for the treatment of depression, the major concerns are whether the drug increases the risks of teratogenicity, pregnancy complications, poor neonatal adaptation, or neurodevelopmental disorders. Although different studies have produced different results, the majority have not shown increases in risk for selective serotonin reuptake inhibitors, serotonin norepinephrine reuptake inhibitors, tricyclic antidepressants, or the noradrenergic/dopaminergic drug bupropion...
March 20, 2018: Clinical Obstetrics and Gynecology
Tenpei Akita, Kazushi Aoto, Mitsuhiro Kato, Masaaki Shiina, Hiroki Mutoh, Mitsuko Nakashima, Ichiro Kuki, Shin Okazaki, Shinichi Magara, Takashi Shiihara, Kenji Yokochi, Kaori Aiba, Jun Tohyama, Chihiro Ohba, Satoko Miyatake, Noriko Miyake, Kazuhiro Ogata, Atsuo Fukuda, Naomichi Matsumoto, Hirotomo Saitsu
Objective: α ( CAMK2A ) and β ( CAMK2B ) isoforms of Calcium/calmodulin-dependent protein kinase II (CaMKII) play a pivotal role in neuronal plasticity and in learning and memory processes in the brain. Here, we explore the possible involvement of α - and β -CaMKII variants in neurodevelopmental disorders. Methods: Whole-exome sequencing was performed for 976 individuals with intellectual disability, developmental delay, and epilepsy. The effect of CAMK2A and CAMK2B variants on CaMKII structure and firing of neurons was evaluated by computational structural analysis, immunoblotting, and electrophysiological analysis...
March 2018: Annals of Clinical and Translational Neurology
Robin Cloarec, Sylvian Bauer, Natacha Teissier, Fabienne Schaller, Hervé Luche, Sandra Courtens, Manal Salmi, Vanessa Pauly, Emilie Bois, Emilie Pallesi-Pocachard, Emmanuelle Buhler, François J Michel, Pierre Gressens, Marie Malissen, Thomas Stamminger, Daniel N Streblow, Nadine Bruneau, Pierre Szepetowski
Congenital cytomegalovirus (CMV) infections represent one leading cause of neurodevelopmental disorders. Recently, we reported on a rat model of CMV infection of the developing brain in utero , characterized by early and prominent infection and alteration of microglia-the brain-resident mononuclear phagocytes. Besides their canonical function against pathogens, microglia are also pivotal to brain development. Here we show that CMV infection of the rat fetal brain recapitulated key postnatal phenotypes of human congenital CMV including increased mortality, sensorimotor impairment reminiscent of cerebral palsy, hearing defects, and epileptic seizures...
2018: Frontiers in Cellular Neuroscience
Nathanael J Yates, Dijana Tesic, Kirk W Feindel, Jeremy T Smith, Michael W Clarke, Celeste Wale, Rachael C Crew, Michaela D Wharfe, Andrew J O Whitehouse, Caitlin S Wyrwoll
Early life vitamin D plays a prominent role in neurodevelopment and subsequent brain function, including schizophrenic-like outcomes and increasing evidence for an association with autism spectrum disorder (ASD). Here, we investigate how early life vitamin D deficiency during rat pregnancy and lactation alters maternal care and influences neurodevelopment and affective, cognitive and social behaviours in male adult offspring. Sprague-Dawley rats were placed on either a vitamin D control (2195 IU/kg) or deficient diet (0 IU/kg) for five weeks before timed mating, and diet exposure was maintained until weaning of offspring on postnatal day (PND) 23...
May 2018: Journal of Endocrinology
Thomas A Avino, Nicole Barger, Martha V Vargas, Erin L Carlson, David G Amaral, Melissa D Bauman, Cynthia M Schumann
Remarkably little is known about the postnatal cellular development of the human amygdala. It plays a central role in mediating emotional behavior and has an unusually protracted development well into adulthood, increasing in size by 40% from youth to adulthood. Variation from this typical neurodevelopmental trajectory could have profound implications on normal emotional development. We report the results of a stereological analysis of the number of neurons in amygdala nuclei of 52 human brains ranging from 2 to 48 years of age [24 neurotypical and 28 autism spectrum disorder (ASD)]...
March 20, 2018: Proceedings of the National Academy of Sciences of the United States of America
Marco Simões, Miguel Bernardes, Fernando Barros, Miguel Castelo-Branco
BACKGROUND: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by impairments in social interaction and repetitive patterns of behavior, which can lead to deficits in adaptive behavior. In this study, a serious game was developed to train individuals with ASD for an important type of outdoor activity, which is the use of buses as a means of transportation. OBJECTIVE: The aim of this study was to develop a serious game that defines a "safe environment" where the players became familiar with the process of taking a bus and to validate if it could be used effectively to teach bus-taking routines and adaptive procedures to individuals with ASD...
March 20, 2018: JMIR Serious Games
Magalie S Leduc, Marianne Mcguire, Suneeta Madan-Khetarpal, Damara Ortiz, Susan Hayflick, Kory Keller, Christine M Eng, Yaping Yang, Weimin Bi
PRR12 encodes a proline-rich protein nuclear factor suspected to be involved in neural development. Its nuclear expression in fetal brains and in the vision system supports its role in brain and eye development more specifically. However, its function and potential role in human disease has not been determined. Recently, a de novo t(10;19) (q22.3;q13.33) translocation disrupting the PRR12 gene was detected in a girl with intellectual disability and neuropsychiatric alterations. Here we report on three unrelated patients with heterozygous de novo apparent loss-of-function mutations in PRR12 detected by clinical whole exome sequencing: c...
March 19, 2018: Human Genetics
Nicole Ali, Gabrielle Rigney, Shelly K Weiss, Cary A Brown, Evelyn Constantin, Roger Godbout, Ana Hanlon-Dearman, Osman Ipsiroglu, Graham J Reid, Sarah Shea, Isabel M Smith, Machiel Van der Loos, Penny V Corkum
Insomnia, which is related to daytime deficits and is a common problem for children with neurodevelopmental disorders (NDDs), is often successfully treated with behavioral strategies. However, there are barriers to accessing these treatments, and there has been little research examining what these interventions need to be usable and effective. The goal of this study was to gain consensus from experts in the field on the key components of an eHealth, parent-implemented, intervention program aimed at improving sleep in children with attention-deficit/hyperactivity disorder, autism spectrum disorder, cerebral palsy, and fetal alcohol spectrum disorder...
April 2018: Sleep Health
Aparna Prasad, Matthew A Sdano, Rena J Vanzo, Patricia A Mowery-Rushton, Moises A Serrano, Charles H Hensel, E Robert Wassman
BACKGROUND: Chromosomal microarray analysis (CMA) is recommended as the first-tier clinical diagnostic test for individuals with developmental disabilities. In addition to detecting copy number variations, CMA platforms with single nucleotide polymorphism probes can detect large homozygous regions within the genome, which represent potential risk for recessively inherited disorders. METHODS: To determine the frequency in which pathogenic or likely pathogenic variants can be detected in these regions of homozygosity, we performed whole exome sequencing (WES) in 53 individuals where homozygosity was detected by CMA...
March 20, 2018: BMC Medical Genetics
Christine M Clark, Shivani Shah-Becker, Abraham Mathew, Neerav Goyal
A patient with Rett syndrome presented to our Emergency Department with extensive subcutaneous emphysema in the cervical region, chest wall, upper extremities, and back. Diagnostic evaluation revealed a mucosal tear in the posterior pharyngeal wall and an abscessed retropharyngeal lymph node, but she had no known history of trauma to account for these findings. This report discusses the occurrence of subcutaneous emphysema in the context of a rare neurodevelopmental disorder and proposes accentuated aerophagia, a sequela of Rett syndrome, as the most likely underlying mechanism...
March 2018: Ear, Nose, & Throat Journal
Paula Ortiz-Romero, Cristina Borralleras, Mònica Bosch-Morató, Biuse Guivernau, Guillermo Albericio, Francisco J Muñoz, Luis A Pérez-Jurado, Victoria Campuzano
Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder caused by a heterozygous deletion of 26-28 genes at chromosome band 7q11.23. The complete deletion (CD) mouse model mimics the most common deletion found in WBS patients and recapitulates most neurologic features of the disorder along with some cardiovascular manifestations leading to significant cardiac hypertrophy with increased cardiomyocytes' size. Epigallocatechin-3-gallate (EGCG), the most abundant catechin found in green tea, has been associated with potential health benefits, both on cognition and cardiovascular phenotypes, through several mechanisms...
2018: PloS One
Sally Robinson, Tammy Hedderly, Giulia Conte, Osman Malik, Francesco Cardona
OBJECTIVE: Misophonia is a condition characterized by the dislike or hatred (miso) of specific sounds (phonia) that results in an extreme emotional response. There has been growing interest in misophonia, with emerging evidence from neurodevelopmental populations and ongoing debate regarding the psychiatric classification and the mechanisms underlying this phenomenon. This is the first article to report on misophonic experiences and associated clinical characteristics in young people with tic disorders...
March 16, 2018: Journal of Developmental and Behavioral Pediatrics: JDBP
Madeline Williams, Smrithi Prem, Xiaofeng Zhou, Paul Matteson, Percy Luk Yeung, Chi-Wei Lu, Zhiping Pang, Linda Brzustowicz, James H Millonig, Emanuel Dicicco-Bloom
Human brain development proceeds through a series of precisely orchestrated processes, with earlier stages distinguished by proliferation, migration, and neurite outgrowth; and later stages characterized by axon/dendrite outgrowth and synapse formation. In neurodevelopmental disorders, often one or more of these processes are disrupted, leading to abnormalities in brain formation and function. With the advent of human induced pluripotent stem cell (hiPSC) technology, researchers now have an abundant supply of human cells that can be differentiated into virtually any cell type, including neurons...
March 2, 2018: Journal of Visualized Experiments: JoVE
Marta Zamarbide, Adam W Oaks, Heather L Pond, Julia S Adelman, M Chiara Manzini
Hundreds of genes are mutated in non-syndromic intellectual disability (ID) and autism spectrum disorder (ASD), with each gene often involved in only a handful of cases. Such heterogeneity can be daunting, but rare recessive loss of function (LOF) mutations can be a good starting point to provide insight into the mechanisms of neurodevelopmental disease. Biallelic LOF mutations in the signaling scaffold CC2D1A cause a rare form of autosomal recessive ID, sometimes associated with ASD and seizures. In parallel, we recently reported that Cc2d1a -deficient mice present with cognitive and social deficits, hyperactivity and anxiety...
2018: Frontiers in Genetics
Oddvar Myhre, Marit Låg, Gro Villanger, Bente Oftedal, Johan Øvrevik, Jørn A Holme, Heidi Aase, Ragnhild E Paulsen, Anna Bal-Price, Hubert Dirven
Epidemiological studies have demonstrated that air pollution particulate matter (PM) and adsorbed toxicants (organic compounds and trace metals) may affect child development already in utero. Recent studies have also indicated that PM may be a risk factor for neurodevelopmental disorders (NDDs). A pattern of increasing prevalence of attention deficit/hyperactivity disorder (ADHD) has been suggested to partly be linked to environmental pollutants exposure, including PM. Epidemiological studies suggest associations between pre- or postnatal exposure to air pollution components and ADHD symptoms...
March 14, 2018: Toxicology and Applied Pharmacology
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