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Chih-Fu Wei, Mei-Huei Chen, Ching-Chun Lin, Yueliang Leon Guo, Shio-Jean Lin, Wu-Shiun Hsieh, Pau-Chung Chen
BACKGROUND: Air pollution from biomass burning were associated with neurodevelopmental deceleration, but limited studies concerned about the effect of indoor biomass burning. Incense burning is a common household ritual practice in Taiwan, while past studies mainly focused on birth weight and allergic disease. OBJECTIVES: We aimed to find the association between incense burning exposure and children's neurodevelopment. METHODS: In Taiwan Birth Cohort Study (TBCS), a nationwide representative birth cohort study, children were assessed upon home interview with structured questionnaires upon six and eighteen months old...
March 17, 2018: Environment International
Patrick Levallois, Prabjit Barn, Mathieu Valcke, Denis Gauvin, Tom Kosatsky
PURPOSE OF REVIEW: Lead can enter drinking water from lead service lines and lead-containing plumbing, particularly in the presence of corrosive water. We review the current evidence on the role of drinking water as a source of lead exposure and its potential impacts on health, with an emphasis on children. Drinking water guidelines and mitigation strategies are also presented. RECENT FINDINGS: The impact of lead on neurodevelopmental effects in children even at low levels of exposure is well established...
March 19, 2018: Current Environmental Health Reports
Zeyan Liew, Houman Goudarzi, Youssef Oulhote
PURPOSE OF REVIEW: We reviewed and summarized the epidemiological evidence for the influence that pre- and postnatal exposures to perfluoroalkyl substances (PFASs) may have on health outcomes in offspring, with a particular focus on birth outcomes and postnatal growth, immunomodulatory effects and neurodevelopment. RECENT FINDINGS: PFASs are persistent organic pollutants that have been widely produced and used in a range of commercial products since the 1950s. Human exposures to PFASs are nearly ubiquitous globally, but studies that addressed potential health effects of PFASs have only begun to accumulate in recent years...
March 19, 2018: Current Environmental Health Reports
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
Sagar B Kudchodkar, Hyeree Choi, Emma L Reuschel, Rianne Esquivel, Jackie Jin-Ah Kwon, Moonsup Jeong, Joel N Maslow, Charles C Reed, Scott White, J Joseph Kim, Gary P Kobinger, Pablo Tebas, David B Weiner, Kar Muthumani
Vaccines are considered one of the greatest advances in modern medicine. The global burden of numerous infectious diseases has been significantly reduced, and in some cases, effectively eradicated through the deployment of specific vaccines. However, efforts to develop effective vaccines against infectious pathogens such as influenza, HIV, dengue virus (DENV), chikungunya virus (CHIKV), Ebola virus, and Zika virus (ZIKV) have proven challenging. Zika virus is a mosquito-vectored flavivirus responsible for periodic outbreaks of disease in Africa, Southeast Asia, and the Pacific Islands dating back over 50 years...
March 16, 2018: Microbes and Infection
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
Laura Puhakka, Maija Lappalainen, Tuula Lönnqvist, Riina Niemensivu, Päivi Lindahl, Tea Nieminen, Raija Seuri, Irmeli Nupponen, Sunil Pati, Suresh Boppana, Harri Saxen
Background: Congenital cytomegalovirus (cCMV) infection is the most common congenital infection and causes significant morbidity. This study was undertaken to evaluate the benefits of screening newborns for cCMV and to understand the cCMV disease burden in Finland. Methods: Infants born in Helsinki area hospitals were screened for CMV by testing their saliva with a real-time polymerase chain reaction assay. The CMV-positive infants and matched controls were monitored to determine their neurodevelopmental, audiological, and ophthalmological outcomes at 18 months of age...
March 15, 2018: Journal of the Pediatric Infectious Diseases Society
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
Vanessa Bates, Ashim Maharjan, Jessica Millar, David K Bilkey, Ryan D Ward
Maternal immune activation (MIA) during gestation is a significant risk factor for development of schizophrenia and other neurodevelopmental diseases. In animal models of this risk factor, MIA during pregnancy can produce offspring that recapitulate certain aspects of the behavioral and neurophysiological impairments seen in schizophrenia. Here, the authors tested the effect of polyinosinic-polycytidylic acid (poly I:C)-induced MIA in a task that explicitly assays the interaction between motivation and cognition...
February 2018: Behavioral Neuroscience
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
Sophie J E Cramer, Janneke Dekker, Jenny Dankelman, Steffen C Pauws, Stuart B Hooper, Arjan B Te Pas
Apnea of prematurity (AOP) is one of the most common diagnoses in preterm infants. Severe and recurrent apneas are associated with cerebral injury and adverse neurodevelopmental outcome. Despite pharmacotherapy and respiratory support to prevent apneas, a proportion of infants continue to have apneas and often need tactile stimulation, mask, and bag ventilation and/or extra oxygen. The duration of the apnea and the concomitant hypoxia and bradycardia depends on the response time of the nurse. We systematically reviewed the literature with the aim of providing an overview of what is known about the effect of manual and mechanical tactile stimulation on AOP...
2018: Frontiers in Pediatrics
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
Sara B DeMauro, Barbara Schmidt
No abstract text is available yet for this article.
March 15, 2018: Journal of Pediatrics
Joanna A Ruszkiewicz, Adi Pinkas, Mahfuzur R Miah, Rebecca L Weitz, Michael J A Lawes, Ayodele J Akinyemi, Omamuyovwi M Ijomone, Michael Aschner
Due to many advantages Caenorhabditis elegans (C. elegans) has become a preferred model of choice in many fields, including neurodevelopmental toxicity studies. This review discusses the benefits of using C. elegans as an alternative to mammalian systems and gives examples of the uses of the nematode in evaluating the effects of major known neurodevelopmental toxins, including manganese, mercury, lead, fluoride, arsenic and organophosphorus pesticides. Reviewed data indicates numerous similarities with mammals in response to these toxins...
March 14, 2018: Toxicology and Applied Pharmacology
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
Dong-Oh Seo, Laura E Motard, Michael R Bruchas
Great efforts in clinical and basic research have shown progress in understanding the neurobiological mechanisms of neurodevelopmental disorders, such as autism, schizophrenia, and attention-deficit hyperactive disorders. Literature on this field have suggested that these disorders are affected by the complex interaction of genetic, biological, psychosocial and environmental risk factors. However, this complexity of interplaying risk factors during neurodevelopment has prevented a complete understanding of the causes of those neuropsychiatric symptoms...
March 14, 2018: Neurobiology of Learning and Memory
Raymond Stegeman, Johannes M P J Breur, Jörg Heuser, Nicolaas J G Jansen, Willem B de Vries, Daniel C Vijlbrief, Mirella M C Molenschot, Felix Haas, Gregor J Krings
BACKGROUND: Surgical treatment of critical aortic coarctation (CoA) is difficult in very low birth weight (VLBW) infants ≤1500 g and preferably postponed until 3 kg with prostaglandins (PGE). OBJECTIVES: To investigate the procedure and outcome of primary coronary stent implantation as bridging therapy to surgery in VLBW infants with CoA. METHODS: Retrospective evaluation of primary CoA stenting in VLBW infants from 2010 to 2015. RESULTS: Five VLBW infants with a median gestational age of 29 weeks (27-32) underwent primary CoA stenting...
March 8, 2018: International Journal of Cardiology
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