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https://www.readbyqxmd.com/read/28923474/beyond-the-inhaled-nitric-oxide-in-persistent-pulmonary-hypertension-of-the-newborn
#1
REVIEW
Mei-Yin Lai, Shih-Ming Chu, Satyan Lakshminrusimha, Hung-Chih Lin
Persistent pulmonary hypertension (PPHN) is a consequence of failed pulmonary vascular transition at birth and leads to pulmonary hypertension with shunting of deoxygenated blood across the ductus arteriosus (DA) and foramen ovale (FO) resulting in severe hypoxemia, and it may eventually lead to life-threatening circulatory failure. PPHN is a serious event affecting both term and preterm infants in the neonatal intensive care unit. It is often associated with diseases such as congenital diaphragmatic hernia, meconium aspiration, sepsis, congenital pneumonia, birth asphyxia and respiratory distress syndrome...
August 10, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28923014/scn8a-mutations-in-chinese-patients-with-early-onset-epileptic-encephalopathy-and-benign-infantile-seizures
#2
Jiaping Wang, Hua Gao, Xinhua Bao, Qingping Zhang, Jiarui Li, Liping Wei, Xiru Wu, Yan Chen, Shujie Yu
BACKGROUND: SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. This study aimed to broaden the phenotypic-spectrum of disease related with SCN8A mutations. METHODS: To identify the pathogenic gene of a Chinese family, in which six members suffered from epilepsy, whole-exome sequencing was performed. In addition, target next-generation sequencing (NGS) was performed on 178 sporadic patients, who had epilepsy of unknown etiology within 6 months after birth...
September 18, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28921563/advanced-genomic-testing-may-aid-in-counseling-of-isolated-agenesis-of-the-corpus-callosum-on-prenatal-ultrasound
#3
M C de Wit, F Boekhorst, G M Mancini, L S Smit, I A L Groenenberg, J Dudink, F A T de Vries, A T J I Go, R J H Galjaard
OBJECTIVE: Isolated agenesis of the corpus callosum (ACC) on fetal ultrasound has a varied prognosis. Microarray and exome sequencing might aid in prenatal counseling. METHOD: This study includes 25 fetuses with apparently isolated complete ACC (cACC) on ultrasound. All cases were offered SNP array. Complementary exome sequencing (ES) was offered postnatally in selected cases. Clinical physical and neurodevelopmental follow-up was collected. RESULTS: Eighteen cases opted for SNP array testing, which detected a causal anomaly in 2/18(11...
September 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28921528/practitioner-review-treatment-of-chronic-insomnia-in-children-and-adolescents-with-neurodevelopmental-disabilities
#4
REVIEW
Oliviero Bruni, Marco Angriman, Fabrizio Calisti, Alessandro Comandini, Giovanna Esposito, Samuele Cortese, Raffaele Ferri
BACKGROUND: Sleep disturbances, in particular insomnia, represent a common problem in children with neurodevelopmental disabilities (NDDs). Currently, there are no approved medications for insomnia in children by the US Food and Drug Administration or European Medicines Agency and therefore they are prescribed off-label. We critically reviewed pediatric literature on drugs as well as nonpharmacological (behavioral) interventions used for sleep disturbances in children with NDDs. METHODS: PubMed, Ovid (including PsycINFO, Ovid MEDLINE(®) , and Embase), and Web of Knowledge databases were searched through February 12, 2017, with no language restrictions...
September 18, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28915132/clinical-update-regarding-general-anesthesia-associated-neurotoxicity-in-infants-and-children
#5
M Ruth Graham
PURPOSE OF REVIEW: The U.S. Federal Drug Administration (FDA) recently released a warning stating that 'repeated or lengthy use of general anesthetic and sedation drugs during surgeries or procedures in children younger than 3 years or in pregnant women during their third trimester may affect the development of children's brains' (www.fda.gov/ucm582356.htm). The goal of this article is to review the most recent clinical studies which provide evidence that these concerns may be overstated for the majority of healthy young children who require surgery and anesthesia...
September 14, 2017: Current Opinion in Anaesthesiology
https://www.readbyqxmd.com/read/28910243/fluoride-exposure-and-reported-learning-disability-diagnosis-among-canadian-children-implications-for-community-water-fluoridation
#6
Amanda M Barberio, Carlos Quiñonez, F Shaun Hosein, Lindsay McLaren
OBJECTIVES: Recent studies have connected increased fluoride exposure with increased risk of neurodevelopmental-related outcomes, such as ADHD (attention deficit hyperactivity disorder) and lower IQ in children. Our primary objective was to examine the association between fluoride exposure and reported diagnosis of a learning disability among a population-based sample of Canadian children aged 3-12 years. METHODS: We analyzed data from Cycles 2 and 3 of the Canadian Health Measures Survey...
September 14, 2017: Canadian Journal of Public Health. Revue Canadienne de Santé Publique
https://www.readbyqxmd.com/read/28905997/children-with-neurodevelopmental-disorders-and-disabilities-a-population-based-study-of-healthcare-service-utilization-using-administrative-data
#7
Rubab G Arim, Anton R Miller, Anne Guèvremont, Lucyna M Lach, Jamie C Brehaut, Dafna E Kohen
AIM: The aim of this study was to identify children with neurodevelopmental disorders and disabilities (NDD/D) and compare their healthcare service utilization to children without NDD/D using provincial linked administrative data. METHOD: The sample included children aged 6 to 10 years (n=183 041), who were registered with the British Columbia Medical Services Plan. Diagnostic information was used for the identification and classification of NDD/D in six functional domains...
September 14, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28899917/activity-dependent-dysfunction-in-visual-and-olfactory-sensory-systems-in-mouse-models-of-down-syndrome
#8
Christopher M William, Lubna Saqran, Matthew A Stern, Charles L Chiang, Scott Herrick, Aziz Rangwala, Mark W Albers, Matthew P Frosch, Bradley T Hyman
Activity-dependent synaptic plasticity plays a critical role in the refinement of circuitry during postnatal development and may be disrupted in conditions that cause intellectual disability such as Down syndrome (DS). To test this hypothesis, visual cortical plasticity was assessed in Ts65Dn mice that harbor a chromosomal duplication syntenic to human chromosome 21q. We find that Ts65Dn mice demonstrate a defect in ocular dominance plasticity (ODP) following monocular deprivation. This phenotype is similar to that of transgenic mice that express amyloid precursor protein (APP), which is duplicated in DS and in Ts65DN mice; however, normalizing APP gene copy number in Ts65Dn mice fails to rescue plasticity...
September 12, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28899818/familial-9q33q34-microduplication-in-siblings-with-developmental-disorders-and-acrocephaly
#9
Keiko Shimojima, Nobuhiko Okamoto, Himanshu Goel, Yumiko Ondo, Toshiyuki Yamamoto
Because several genes responsible for epileptic encephalopathy are located on the 9q33q34 region, patients with chromosomal deletions of this region often show intractable epilepsy and neurodevelopmental disability. Contrary to these findings, chromosomal duplications of this region have never been reported previously. We identified a first case of 9q33q34 microduplications in siblings associated with developmental disorders and macrocephaly. Their mother was a mosaic carrier of this duplication. Duplicated regions involved STXBP1; the gene related to epileptic encephalopathy...
September 9, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28895873/prenatal-serum-concentrations-of-brominated-flame-retardants-and-autism-spectrum-disorder-and-intellectual-disability-in-the-early-markers-of-autism-study-a-population-based-case-control-study-in-california
#10
Kristen Lyall, Lisa A Croen, Lauren A Weiss, Martin Kharrazi, Michela Traglia, Gerald N Delorenze, Gayle C Windham
BACKGROUND: Prior studies suggest neurodevelopmental impacts of polybrominated diphenyl ethers (PBDEs), but few have examined diagnosed developmental disorders. OBJECTIVES: Our aim was to determine whether prenatal exposure to brominated flame retardants (BFRs) is associated with autism spectrum disorder (ASD) or intellectual disability without autism (ID). METHODS: We conducted a population-based case-control study including children with ASD (n=545) and ID (n=181) identified from the California Department of Developmental Services and general population (GP) controls (n=418) from state birth certificates...
August 30, 2017: Environmental Health Perspectives
https://www.readbyqxmd.com/read/28895475/delayed-intranasal-infusion-of-human-amnion-epithelial-cells-improves-white-matter-maturation-after-asphyxia-in-preterm-fetal-sheep
#11
Lotte G van den Heuij, Mhoyra Fraser, Suzanne L Miller, Graham Jenkin, Euan M Wallace, Joanne O Davidson, Christopher A Lear, Rebecca Lim, Guido Wassink, Alistair J Gunn, Laura Bennet
Perinatal hypoxic-ischemic (HI) brain injury remains highly associated with neurodevelopmental disability after preterm birth. There is increasing evidence that disability is linked with impaired white matter maturation, but there is no specific treatment. In this study, we evaluated whether, in preterm fetal sheep, delayed intranasal infusion of human amnion epithelial cells (hAECs) given 1, 3 and 10 days after severe HI, induced by umbilical cord occlusion for 25 min, can restore white matter maturation or reduce delayed cell loss...
January 1, 2017: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/28894999/needs-of-adolescents-and-young-adults-with-neurodevelopmental-disorders-comparisons-of-young-people-and-parent-perspectives
#12
Hanna Eklund, James Findon, Tim Cadman, Hannah Hayward, Declan Murphy, Philip Asherson, Karen Glaser, Kiriakos Xenitidis
This study used the Camberwell Assessment of Need for adults with Developmental and Intellectual Disabilities (CANDID) to examine the social, physical health and mental health needs of 168 young people (aged 14-24 years) with neurodevelopmental disorders and compared young person and parent ratings of need. Agreement was poor in 21 out of 25 domains. Parents consistently reported higher levels of need than young people in the majority of domains although young people with ADHD reported significantly more needs in physical health, eyesight/hearing, seizures, other mental health problems and safety of others than their parents...
September 11, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28892570/dnajc12-and-dopa-responsive-non-progressive-parkinsonism
#13
Letizia Straniero, Ilaria Guella, Roberto Cilia, Laura Parkkinen, Valeria Rimoldi, Alexander Young, Rosanna Asselta, Giulia Soldà, Vesna Sossi, A Jon Stoessl, Alberto Priori, Kenya Nishioka, Nobutaka Hattori, Jordan Follett, Alex Rajput, Nenad Blau, Gianni Pezzoli, Matthew J Farrer, Stefano Goldwurm, Ali H Rajput, Stefano Duga
Biallelic DNAJC12 mutations were described in children with hyperphenylalaninemia, neurodevelopmental delay, and dystonia. We identified DNAJC12 homozygous null variants (c.187A>T;p.K63*and c.79-2A>G;p.V27Wfs*14) in two kindreds with early-onset parkinsonism. Both probands had mild intellectual disability, mild non-progressive, motor symptoms, sustained benefit from small dose of levodopa and substantial worsening of symptoms after levodopa discontinuation. Neuropathology (Proband-A) revealed no alpha-synuclein pathology and substantia nigra depigmentation with moderate cell loss DNAJC12 transcripts were reduced in both patients...
September 11, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28888092/neurodevelopmental-outcome-at-the-age-of-4-years-according-to-the-planned-mode-of-delivery-in-term-breech-presentation-a-nationwide-population-based-record-linkage-study
#14
Georg Macharey, Mervi Väisänen-Tommiska, Mika Gissler, Veli-Matti Ulander, Leena Rahkonen, Mika Nuutila, Seppo Heinonen
PURPOSE: To evaluate whether a trial of planned vaginal breech labor affects neurologic development in children. METHODS: This is a nationwide, Finnish, population-based record linkage study. An odds ratio with 95% confidence intervals was used to estimate the relative risk that a child delivered by planned vaginal breech labor would be diagnosed with adverse neurodevelopmental outcome (cerebral palsy, epilepsy, intellectual disability, sensor neural developmental outcome, hyperactivity, speech and language problems) at the age of 4 years...
September 9, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28887151/altered-synaptobrevin-ii-trafficking-in-neurons-expressing-a-synaptophysin-mutation-associated-with-a-severe-neurodevelopmental-disorder
#15
Callista B Harper, Grazia M S Mancini, Marjon van Slegtenhorst, Michael A Cousin
Following exocytosis, synaptic vesicles (SVs) have to be reformed with the correct complement of proteins in the correct stoichiometry to ensure continued neurotransmission. Synaptophysin is a highly abundant, integral SV protein necessary for the efficient retrieval of the SV SNARE protein, synaptobrevin II (sybII). However the molecular mechanism underpinning synaptophysin-dependent sybII retrieval is still unclear. We recently identified a male patient with severe intellectual disability, hypotonia, epilepsy and callosal agenesis who has a point mutation in the juxtamembrane region of the fourth transmembrane domain of synaptophysin (T198I)...
September 5, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28885092/infant-discovery-learning-and-lower-extremity-coordination-influence-of-prematurity
#16
Barbara Sargent, Masayoshi Kubo, Linda Fetters
AIMS: Preterm infants at increased risk for neurodevelopmental disabilities, including cerebral palsy, demonstrate reduced selective leg joint coordination. Full-term infants demonstrate more selective hip-knee coordination when specific leg actions are reinforced using an overhead infant mobile. The purpose of this pilot study was to determine the ability of preterm infants to: (1) perform and learn through discovery, the contingency between leg action and mobile activation, and (2) demonstrate more selective hip-knee coordination when leg actions are reinforced with mobile activation...
September 8, 2017: Physical & Occupational Therapy in Pediatrics
https://www.readbyqxmd.com/read/28884398/developmental-exposure-of-decabromodiphenyl-ether-impairs-subventricular-zone-neurogenesis-and-morphology-of-granule-cells-in-mouse-olfactory-bulb
#17
Mingrui Xu, Yingxue Huang, Kaikai Li, Xinran Cheng, Guohong Li, Mengmeng Liu, Yufei Nie, Shu Geng, Shanting Zhao
Polybrominated diphenyl ethers (PBDEs) are additive flame retardants widely used in various products (e.g., textiles, consumer electronics, and plastics). Strong evidence indicates that PBDEs are developmental neurotoxicants that can cause neurodevelopmental disabilities and cognitive defects. Currently, decabromodiphenyl ether (BDE 209) is the only PBDE permitted for production in most countries. This study investigated the impact of BDE 209 on postnatal neurogenesis in the subventricular zone (SVZ) of ICR mice...
September 7, 2017: Archives of Toxicology
https://www.readbyqxmd.com/read/28882412/a-flavonoid-agonist-of-the-trkb-receptor-for-bdnf-improves-hippocampal-neurogenesis-and-hippocampus-dependent-memory-in-the-ts65dn-mouse-model-of-ds
#18
Fiorenza Stagni, Andrea Giacomini, Sandra Guidi, Marco Emili, Beatrice Uguagliati, Maria Elisa Salvalai, Valeria Bortolotto, Mariagrazia Grilli, Roberto Rimondini, Renata Bartesaghi
Intellectual disability is the unavoidable hallmark of Down syndrome (DS), with a heavy impact on public health. Reduced neurogenesis and impaired neuron maturation are considered major determinants of altered brain function in DS. Since the DS brain starts at a disadvantage, attempts to rescue neurogenesis and neuron maturation should take place as soon as possible. The brain-derived neurotrophic factor (BDNF) is a neurotrophin that plays a key role in brain development by specifically binding to tropomyosin-related kinase receptor B (TrkB)...
September 4, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28882081/assessment-of-time-management-skills-psychometric-properties-of-the-swedish-version
#19
Gunnel Kristina Janeslätt, Kajsa Lidström Holmqvist, Suzanne White, Marie Holmefur
BACKGROUND: Persons with impaired time management skills are often in need of occupational therapy. Valid and reliable instruments to assess time management and organizational skills are needed for the evaluation of intervention. The purpose of this study was to evaluate the psychometric properties of a Swedish version of the Assessment of Time Management Skills (ATMS-S) for persons with and without impaired time management skills. METHOD: A total of 238 persons participated in the study, of whom 94 had self-reported impaired time management skills due to mental disorders such as schizophrenic spectrum or neurodevelopmental disorders such as attention deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD) and mild intellectual disabilities, and 144 persons had no reported impaired time management skills...
September 7, 2017: Scandinavian Journal of Occupational Therapy
https://www.readbyqxmd.com/read/28880200/the-endocannabinoid-system-and-autism-spectrum-disorders-insights-from-animal-models
#20
REVIEW
Erica Zamberletti, Marina Gabaglio, Daniela Parolaro
Autism spectrum disorder (ASD) defines a group of neurodevelopmental disorders whose symptoms include impaired communication and social interaction with restricted or repetitive motor movements, frequently associated with general cognitive deficits. Although it is among the most severe chronic childhood disorders in terms of prevalence, morbidity, and impact to the society, no effective treatment for ASD is yet available, possibly because its neurobiological basis is not clearly understood hence specific drugs have not yet been developed...
September 7, 2017: International Journal of Molecular Sciences
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