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https://www.readbyqxmd.com/read/27933364/behavioral-alterations-of-zebrafish-larvae-after-early-embryonic-exposure-to-ketamine
#1
Luís M Félix, Luís M Antunes, Ana M Coimbra, Ana M Valentim
RATIONALE: Ketamine has been associated with pediatric risks that include neurocognitive impairment and long-term behavioral disorders. However, the neurobehavioral effects of ketamine exposure in early development remain uncertain. OBJECTIVES: This study aimed to test stage- and dose-dependent effects of ketamine exposure on certain brain functions by evaluating alterations in locomotion, anxiety-like and avoidance behaviors, as well as socialization. METHODS: Embryos were exposed to different concentrations of ketamine (0, 0...
December 8, 2016: Psychopharmacology
https://www.readbyqxmd.com/read/27933285/developmental-profile-and-diagnoses-in-children-presenting-with-motor-stereotypies
#2
Francesco Cardona, Francesca Valente, Daniela Miraglia, Caterina D'Ardia, Valentina Baglioni, Flavia Chiarotti
INTRODUCTION: Motor stereotypies represent a typical example of the difficulty in distinguishing non-clinical behaviors (physiological and transient) from symptoms or among different disorders ["primary stereotypies," associated with autistic spectrum disorder (ASD), intellectual disabilities, genetic syndromes, and sensory impairment]. The aim of this study was to obtain an accurate assessment on the relationship between stereotypies and neurodevelopmental disorders. METHODS: We studied 23 children (3 girls), aged 36-95 months, who requested a consultation due to the persistence or increased severity of motor stereotypies...
2016: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/27933283/neonatal-diagnostics-toward-dynamic-growth-charts-of-neuromotor-control
#3
Elizabeth B Torres, Beth Smith, Sejal Mistry, Maria Brincker, Caroline Whyatt
The current rise of neurodevelopmental disorders poses a critical need to detect risk early in order to rapidly intervene. One of the tools pediatricians use to track development is the standard growth chart. The growth charts are somewhat limited in predicting possible neurodevelopmental issues. They rely on linear models and assumptions of normality for physical growth data - obscuring key statistical information about possible neurodevelopmental risk in growth data that actually has accelerated, non-linear rates-of-change and variability encompassing skewed distributions...
2016: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/27933109/functional-characterization-of-rare-foxp2-variants-in-neurodevelopmental-disorder
#4
Sara B Estruch, Sarah A Graham, Swathi M Chinnappa, Pelagia Deriziotis, Simon E Fisher
BACKGROUND: Heterozygous disruption of FOXP2 causes a rare form of speech and language impairment. Screens of the FOXP2 sequence in individuals with speech/language-related disorders have identified several rare protein-altering variants, but their phenotypic relevance is often unclear. FOXP2 encodes a transcription factor with a forkhead box DNA-binding domain, but little is known about the functions of protein regions outside this domain. METHODS: We performed detailed functional analyses of seven rare FOXP2 variants found in affected cases, including three which have not been previously characterized, testing intracellular localization, transcriptional regulation, dimerization, and interaction with other proteins...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27933108/postural-orientation-and-equilibrium-processes-associated-with-increased-postural-sway-in-autism-spectrum-disorder-asd
#5
Zheng Wang, Rami R Hallac, Kaitlin C Conroy, Stormi P White, Alex A Kane, Amy L Collinsworth, John A Sweeney, Matthew W Mosconi
BACKGROUND: Increased postural sway has been repeatedly documented in children with autism spectrum disorder (ASD). Characterizing the control processes underlying this deficit, including postural orientation and equilibrium, may provide key insights into neurophysiological mechanisms associated with ASD. Postural orientation refers to children's ability to actively align their trunk and head with respect to their base of support, while postural equilibrium is an active process whereby children coordinate ankle dorsi-/plantar-flexion and hip abduction/adduction movements to stabilize their upper body...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27932244/transcriptional-response-to-mitochondrial-protease-immp2l-knockdown-in-human-primary-astrocytes
#6
Akira Gokoolparsadh, Zhiming Fang, Nady Braidy, Peijie Lin, Christopher J Pardy, Valsamma Eapen, Raymond Clarke, Irina Voineagu
IMMP2L encodes the inner membrane peptidase subunit 2, a mitochondrial protease involved in cleaving the space-sorting signals of mitochondrial membrane proteins. IMMP2L has been implicated in Tourette syndrome, but how its dysfunction contributes to the neurodevelopmental phenotype remains unclear. Here we show that IMMP2L transcription requires Topoisomerase I in human primary astrocytes, and characterize the downstream effects of IMMP2L knockdown on gene expression. We demonstrate that IMMP2L knockdown leads to dysregulation of genes involved in central nervous system development...
December 5, 2016: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/27932233/schizophrenia-risk-alleles-and-neurodevelopmental-outcomes-in-childhood-a-population-based-cohort-study
#7
Lucy Riglin, Stephan Collishaw, Alexander Richards, Ajay K Thapar, Barbara Maughan, Michael C O'Donovan, Anita Thapar
BACKGROUND: Schizophrenia typically onsets after puberty but is often preceded by observable childhood neurodevelopmental impairments. Whether these childhood antecedents index genetic liability is unknown. We used polygenic risk scores derived from a patient discovery sample as indicators of the genetic liability of schizophrenia. Our aim was to identify the early childhood manifestations of this liability in a UK population-based cohort. METHODS: The study sample was the Avon Longitudinal Study of Parents and Children, a prospective population-based cohort study of 14701 children...
December 5, 2016: Lancet Psychiatry
https://www.readbyqxmd.com/read/27931090/prenatal-diagnosis-of-susceptibility-loci-for-neurodevelopmental-disorders-genetic-counseling-and-pregnancy-outcome-in-57-cases
#8
Lutgarde Govaerts, Malgorzata Srebniak, Karin Diderich, Marieke Joosten, Sam Riedijk, Maarten Knapen, Attie Go, Dimitri Papatsonis, Katja de Graaf, Toon Toolenaar, Sanne van der Steen, Gido Huijbregts, Jeroen Knijnenburg, Femke de Vries, Diane Van Opstal, Robert-Jan Galjaard
BACKGROUND: Whole genome array testing not only provides an increased diagnostic yield of pathogenic causative findings, but it may also reveal so called susceptibility loci (SL) for neurodevelopmental disorders. The goal of this study was to evaluate the pregnancy outcomes in SL cases and to establish a protocol for pregnancy management, follow-up and additional investigations. METHODS: 57 cases were evaluated: 34 with and 23 without ultrasound anomalies at referral...
December 8, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27928777/clinical-and-mutational-characterizations-of-ten-indian-patients-with-beta-ketothiolase-deficiency
#9
Elsayed Abdelkreem, Radha Rama Devi Akella, Usha Dave, Sudhir Sane, Hiroki Otsuka, Hideo Sasai, Yuka Aoyama, Mina Nakama, Hidenori Ohnishi, Shaimaa Mahmoud, Mohamed Abd El Aal, Toshiyuki Fukao
Beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase (T2) deficiency) is an inherited disease of isoleucine catabolism and ketone body utilization caused by ACAT1 mutations. We identified ten Indian patients who manifested with ketoacidotic episodes of variable severity. The patients showed increased urinary excretion of isoleucine-catabolic intermediates: 2-methyl-3-hydroxybutyrate, 2-methylacetoacetate, and tiglylglycine. Six patients had a favorable outcome, one died, and three developed neurodevelopmental sequela...
December 8, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27928515/mitochondrial-dysfunction-in-autism-spectrum-disorders
#10
Maheen F Siddiqui, Clare Elwell, Mark H Johnson
Autism spectrum disorders (ASD) are classified as neurodevelopmental disorders characterised by diminished social communication and interaction. Recently, evidence has accrued that a significant proportion of individuals with autism have concomitant diseases such as mitochondrial disease and abnormalities of energy generation. This has therefore led to the hypothesis that autism may be linked to mitochondrial dysfunction. We review such studies reporting decreased activity of mitochondrial electron transport chain (ETC) complexes and reduced gene expression of mitochondrial genes, in particular genes of respiratory chain complexes, in individuals with autism...
September 27, 2016: Autism-open Access
https://www.readbyqxmd.com/read/27927957/the-proteome-of-bloc-1-genetic-defects-identifies-the-arp2-3-actin-polymerization-complex-to-function-downstream-of-the-schizophrenia-susceptibility-factor-dysbindin-at-the-synapse
#11
Avanti Gokhale, Cortnie Hartwig, Amanda H Freeman, Ravi Das, Stephanie A Zlatic, Rachel Vistein, Amelia Burch, Guillemette Carrot, Arielle F Lewis, Sheldon Nelms, Dion K Dickman, Manojkumar A Puthenveedu, Daniel N Cox, Victor Faundez
: Proteome modifications downstream of monogenic or polygenic disorders have the potential to uncover novel molecular mechanisms participating in pathogenesis and/or extragenic modification of phenotypic expression. We tested this idea by determining the proteome sensitive to genetic defects in a locus encoding dysbindin, a protein required for synapse biology and implicated in schizophrenia risk. We applied quantitative mass spectrometry to identify proteins expressed in neuronal cells the abundance of which was altered after downregulation of the schizophrenia susceptibility factor dysbindin (Bloc1s8) or two other dysbindin-interacting polypeptides, which assemble into the octameric biogenesis of lysosome-related organelles complex 1 (BLOC-1)...
December 7, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27925172/effect-of-early-intervention-in-infants-at-very-high-risk-of-cerebral-palsy-a-systematic-review
#12
REVIEW
Mijna Hadders-Algra, Anke G Boxum, Tjitske Hielkema, Elisa G Hamer
AIM: First, to systematically review the evidence on the effect of intervention applied during the first postnatal year in infants with or at very high risk of cerebral palsy (CP) on child and family outcome. Second, to assess whether type and dosing of intervention modify the effect of intervention. METHOD: Relevant literature was identified by searching the PubMed, Embase, and CINAHL databases. Selection criteria included infants younger than 12 months corrected age with or at very high risk of CP...
December 7, 2016: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/27924356/comparison-of-two-common-aeeg-classifications-for-the-prediction-of-neurodevelopmental-outcome-in-preterm-infants
#13
Nora Bruns, Frauke Dransfeld, Britta Hüning, Julia Hobrecht, Tobias Storbeck, Christel Weiss, Ursula Felderhoff-Müser, Hanna Müller
: Neurodevelopmental outcome after prematurity is crucial. The aim was to compare two amplitude-integrated EEG (aEEG) classifications (Hellström-Westas (HW), Burdjalov) for outcome prediction. We recruited 65 infants ≤32 weeks gestational age with aEEG recordings within the first 72 h of life and Bayley testing at 24 months corrected age or death. Statistical analyses were performed for each 24 h section to determine whether very immature/depressed or mature/developed patterns predict survival/neurological outcome and to find predictors for mental development index (MDI) and psychomotor development index (PDI) at 24 months corrected age...
December 6, 2016: European Journal of Pediatrics
https://www.readbyqxmd.com/read/27922636/dna-methylation-and-substance-use-risk-a-prospective-genome-wide-study-spanning-gestation-to-adolescence
#14
C A M Cecil, E Walton, R G Smith, E Viding, E J McCrory, C L Relton, M Suderman, J-B Pingault, W McArdle, T R Gaunt, J Mill, E D Barker
Epigenetic processes have been implicated in addiction; yet, it remains unclear whether these represent a risk factor and/or a consequence of substance use. Here, we believe we conducted the first genome-wide, longitudinal study to investigate whether DNA methylation patterns in early life prospectively associate with substance use in adolescence. The sample comprised of 244 youth (51% female) from the Avon Longitudinal Study of Parents and Children (ALSPAC), with repeated assessments of DNA methylation (Illumina 450k array; cord blood at birth, whole blood at age 7) and substance use (tobacco, alcohol and cannabis use; age 14-18)...
December 6, 2016: Translational Psychiatry
https://www.readbyqxmd.com/read/27922130/the-nmda-receptor-glun2c-subunit-controls-cortical-excitatory-inhibitory-balance-neuronal-oscillations-and-cognitive-function
#15
Subhash C Gupta, Aparna Ravikrishnan, Jinxu Liu, Zhihao Mao, Ratnamala Pavuluri, Brandon G Hillman, Pauravi J Gandhi, Dustin J Stairs, Ming Li, Rajesh R Ugale, Daniel T Monaghan, Shashank M Dravid
Despite strong evidence for NMDA receptor (NMDAR) hypofunction as an underlying factor for cognitive disorders, the precise roles of various NMDAR subtypes remains unknown. The GluN2C-containing NMDARs exhibit unique biophysical properties and expression pattern, and lower expression of GluN2C subunit has been reported in postmortem brains from schizophrenia patients. We found that loss of GluN2C subunit leads to a shift in cortical excitatory-inhibitory balance towards greater inhibition. Specifically, pyramidal neurons in the medial prefrontal cortex (mPFC) of GluN2C knockout mice have reduced mEPSC frequency and dendritic spine density and a contrasting higher frequency of mIPSCs...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27921445/risk-of-neonatal-and-childhood-morbidity-among-preterm-infants-exposed-to-marijuana
#16
Sarah K Dotters-Katz, Marcela C Smid, Tracy A Manuck, Torri D Metz
BACKGROUND: Limited data exist regarding the neonatal and neurodevelopmental outcomes of infants exposed to marijuana (MJ) in-utero, particularly among preterm infants. We hypothesized that MJ-exposed preterm infants would have worse neonatal and childhood developmental outcomes compared to MJ-unexposed infants. METHODS: Secondary analysis of multicenter randomized-controlled trial of antenatal magnesium sulfate for prevention of cerebral palsy was conducted. Singleton non-anomalous infants delivered <35 weeks exposed to MJ in-utero were compared to MJ-unexposed...
December 6, 2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/27920638/interstitial-1q21-1-microdeletion-is-associated-with-severe-skeletal-anomalies-dysmorphic-face-and-moderate-intellectual-disability
#17
Bruno F Gamba, Roseli M Zechi-Ceide, Nancy M Kokitsu-Nakata, Siulan Vendramini-Pittoli, Carla Rosenberg, Ana C V Krepischi Santos, Lucilene Ribeiro-Bicudo, Antonio Richieri-Costa
We report on a Brazilian patient with a 1.7-Mb interstitial microdeletion in chromosome 1q21.1. The phenotypic characteristics include microcephaly, a peculiar facial gestalt, cleft lip/palate, and multiple skeletal anomalies represented by malformed phalanges, scoliosis, abnormal modeling of vertebral bodies, hip dislocation, abnormal acetabula, feet anomalies, and delayed neuropsychological development. Deletions reported in this region are clinically heterogeneous, ranging from subtle phenotypic manifestations to severe congenital heart defects and/or neurodevelopmental findings...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27920126/postnatal-activation-of-tlr4-in-astrocytes-promotes-excitatory-synaptogenesis-in-hippocampal-neurons
#18
Yi Shen, Huaping Qin, Juan Chen, Lingyan Mou, Yang He, Yixiu Yan, Hang Zhou, Ya Lv, Zhong Chen, Junlu Wang, Yu-Dong Zhou
Astrocytes are critical in synapse development, and their dysfunction in crucial developmental stages leads to serious neurodevelopmental diseases, including seizures and epilepsy. Immune challenges not only affect brain development, but also promote seizure generation and epileptogenesis, implying immune activation is one of the key factors linking seizures and epilepsy to abnormal brain development. In this study, we report that activating astrocytes by systemic lipopolysaccharide (LPS) challenges in the second postnatal week promotes excitatory synapse development, leading to enhanced seizure susceptibility in mice...
December 5, 2016: Journal of Cell Biology
https://www.readbyqxmd.com/read/27919782/understanding-zebrafish-cognition
#19
REVIEW
Darya A Meshalkina, Marina N Kizlyk, Elana V Kysil, Adam D Collier, David J Echevarria, Murilo S Abreu, Leonardo J G Barcellos, Cai Song, Allan V Kalueff
Zebrafish (Danio rerio) are rapidly becoming a popular model organism in translational and cognitive neuroscience research. Both larval and adult zebrafish continue to increase our understanding of cognitive mechanisms and their genetic and pharmacological modulation. Here, we discuss the developing utility of zebrafish in understanding cognitive phenotypes and their deficits, relevant to a wide range human brain disorders. We also discuss the potential of zebrafish models for high-throughput genetic mutant and small molecule screening (e...
December 2, 2016: Behavioural Processes
https://www.readbyqxmd.com/read/27919646/role-of-neurotrophic-factors-in-attention-deficit-hyperactivity-disorder
#20
Shih-Jen Tsai
Neurotrophins (NTs), a family of proteins including nerve growth factor, brain-derived neurotrophic factor (BDNF), neurotrophin-3, and neurotrophin-4, are essential for neural growth, survival, and differentiation, and are therefore crucial for brain development. Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by problems of inattention and/or hyperactivity-impulsivity. ADHD is one of the most common childhood onset psychiatric disorders. Studies have suggested that both genetic and environmental factors influence the development of the disorder, although the precise causes of ADHD have not yet been identified...
November 30, 2016: Cytokine & Growth Factor Reviews
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