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Results: 28
Understanding the role of steroids in typical and atypical brain development
Steroids have an important role in growth, development, sexual differentiation and reproduction. All four classes of steroids, androgens, oestrogens, progestogens and glucocorticoids, have varying effects on the brain. Androgens...
17β-oestradiol Androgens Autism spectrum conditions Neurodegenerative disease Neurodevelopmental Disorders oestrogens psychiatric Schizophrenia Stem Cells synapse Testosterone Animals Brain Glucocorticoids Gonadal Steroid Hormones Humans Neurodegenerative Diseases Neurodevelopmental Disorders Sex Differentiation
Multi-omic analysis elucidates the genetic basis of hydrocephalus.
Andrew T Hale, Lisa Bastarache, Diego M Morales, John C Wellons, David D Limbrick, Eric R Gamazon
Jun 05, 2021
We conducted PrediXcan analysis of hydrocephalus risk in ten neurological tissues and whole blood. Decreased expression of MAEL in the brain was significantly associated (Bonferroni-adjusted p < 0.05) with hydrocephalus....
The association between analgesic drug use in pregnancy and neurodevelopmental disorders
BACKGROUND: Maternal prenatal health has been shown to be an important influence on children's developmental outcomes, which has led to an increased emphasis on providing more information to support clinical decisions in...
The psychiatric phenotypes of 1q21 distal deletion and duplication.
Stefanie C Linden, Cameron J Watson, Jacqueline Smith, Samuel JRA Chawner, Thomas M Lancaster, Ffion Evans, Nigel Williams, David Skuse, F Lucy Raymond, Jeremy Hall, Michael J Owen, David EJ Linden, LeeAnne Green-Snyder, Wendy K Chung, Anne M Maillard, Sébastien Jacquemont, Marianne BM van den Bree
Jul 07, 2021
STXBP1-associated neurodevelopmental disorder
BACKGROUND: De novo loss of function mutations in STXBP1 are a relatively common cause of epilepsy and intellectual disability (ID). However, little is known about the types and severities of behavioural features associated with...
The neurodevelopmental spectrum of synaptic vesicle cycling disorders.
In this review, we describe and discuss neurodevelopmental phenotypes arising from rare, high penetrance genomic variants which directly influence synaptic vesicle cycling (SVC disorders). Pathogenic variants in each SVC...
The Role of Iron in Brain Development
One-third of children falter in cognitive development by pre-school age. Iron plays an important role in many neurodevelopmental processes, and animal studies suggest that iron sufficiency in pregnancy and infancy is...
brain development cognitive Infancy Iron deficiency Motor pre-school Pregnancy socio-emotional Adult Anemia Iron-Deficiency Brain Child Preschool Dietary Supplements Female Humans Infant Infant Nutritional Physiological Phenomena Infant Newborn Iron Iron Deficiencies Iron Dietary Male Maternal Nutritional Physiological Phenomena Neurodevelopmental Disorders Nutritional Status Pregnancy Prenatal Care
Motor Abilities and the Motor Profile in Individuals with Williams Syndrome
Leighanne A. Mayall, Hana D’Souza, Elisabeth L. Hill, Annette Karmiloff-Smith, Andrew Tolmie, Emily K. Farran
Feb 23, 2021
Imbalanced social-communicative and restricted repetitive behavior subtypes of autism spectrum disorder exhibit different neural circuitry.
Natasha Bertelsen, Isotta Landi, Richard AI Bethlehem, Jakob Seidlitz, Elena Maria Busuoli, Veronica Mandelli, Eleonora Satta, Stavros Trakoshis, Bonnie Auyeung, Prantik Kundu, Eva Loth, Guillaume Dumas, Sarah Baumeister, Christian F Beckmann, Sven Bölte, Thomas Bourgeron, Tony Charman, Sarah Durston, Christine Ecker, Rosemary J Holt, Mark H Johnson, Emily JH Jones, Luke Mason, Andreas Meyer-Lindenberg, Carolin Moessnang, Marianne Oldehinkel, Antonio M Persico, Julian Tillmann, Steve CR Williams, Will Spooren, Declan GM Murphy, Jan K Buitelaar, EU-AIMS LEAP group, Simon Baron-Cohen, Meng-Chuan Lai, Michael V Lombardo
May 26, 2021
Social-communication (SC) and restricted repetitive behaviors (RRB) are autism diagnostic symptom domains. SC and RRB severity can markedly differ within and between individuals and may be underpinned by different neural...
Transdiagnostic profiles of behaviour and communication relate to academic and socioemotional functioning and neural white matter organisation.
Transcriptomic and cellular decoding of regional brain vulnerability to neurogenetic disorders.
Jakob Seidlitz, Ajay Nadig, Siyuan Liu, Richard AI Bethlehem, Petra E Vértes, Sarah E Morgan, František Váša, Rafael Romero-Garcia, François M Lalonde, Liv S Clasen, Jonathan D Blumenthal, Casey Paquola, Boris Bernhardt, Konrad Wagstyl, Damon Polioudakis, Luis de la Torre-Ubieta, Daniel H Geschwind, Joan C Han, Nancy R Lee, Declan G Murphy, Edward T Bullmore, Armin Raznahan
Jul 10, 2020
Neurodevelopmental disorders have a heritable component and are associated with region specific alterations in brain anatomy. However, it is unclear how genetic risks for neurodevelopmental disorders are translated into...
Adolescent Adult Brain Mapping Cerebral Cortex Child Cohort Studies DNA Copy Number Variations Female Gene Expression Profiling Genetic Predisposition to Disease Genome Human Humans Magnetic Resonance Imaging Male Middle Aged Neurodevelopmental Disorders Neuroimaging Neurons Oligodendroglia Spatial Analysis Young Adult
Prenatal depression, fetal neurobehavior, and infant temperament
This article extends the research focusing on the early origins of psychopathology into the prenatal period, by exploring the association between maternal prenatal depression and offspring (fetal and infant) neurobehavior. The...
Annual Research Review
Practitioners frequently use diagnostic criteria to identify children with neurodevelopmental disorders and to guide intervention decisions. These criteria also provide the organising framework for much of the research focussing...
Interferon-γ signaling in human iPSC-derived neurons recapitulates neurodevelopmental disorder phenotypes.
Katherine Warre-Cornish, Leo Perfect, Roland Nagy, Rodrigo RR Duarte, Matthew J Reid, Pooja Raval, Annett Mueller, Amanda L Evans, Amalie Couch, Cédric Ghevaert, Grainne McAlonan, Eva Loth, Declan Murphy, Timothy R Powell, Anthony C Vernon, Deepak P Srivastava, Jack Price
Sep 23, 2020
Maternal immune activation increases the risk of neurodevelopmental disorders. Elevated cytokines, such as interferon-γ (IFN-γ), in offspring's brains play a central role. IFN-γ activates an antiviral cellular state, limiting...
Neuromodulation of Spike-Timing-Dependent Plasticity
STDP Attention Disease long-term depression long-term potentiation Memory Neurodevelopment neuromodulation reinforcement learning Sleep spike-timing-dependent plasticity synaptic plasticity Action Potentials Animals Astrocytes Behavior Brain Diseases Brain Mapping Humans learning Memory Consolidation Models Neurological Molecular Targeted Therapy Neurodegenerative Diseases Neurodevelopmental Disorders Neuronal Plasticity Neurons Neurotransmitter Agents Obsessive-Compulsive Disorder Presynaptic Terminals Receptors Neurotransmitter Reinforcement psychology Signal Transduction Species Specificity stroke Substance-Related Disorders Time Factors
Efficiency in Magnocellular Processing
Alyse Christine Brown, Jessica Lee Peters, Carl Parsons, David Philip Crewther, Sheila Gillard Crewther
Mar 11, 2020
Several neurodevelopmental disorders (NDDs) including Developmental Dyslexia (DD), Autism Spectrum Disorder (ASD), but not Attention Deficit Hyperactive Disorder (ADHD), are reported to show deficits in global motion processing....
Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52.
Angelica D'Amore, Alessandra Tessa, Valentina Naef, Maria Teresa Bassi, Andrea Citterio, Romina Romaniello, Gianluca Fichi, Daniele Galatolo, Serena Mero, Roberta Battini, Giulia Bertocci, Jacopo Baldacci, Federico Sicca, Federica Gemignani, Ivana Ricca, Anna Rubegni, Jennifer Hirst, Maria Marchese, Mustafa Sahin, Darius Ebrahimi-Fakhari, Filippo M Santorelli
May 18, 2020
Autosomal recessive spastic paraplegia 52 is caused by biallelic mutations in AP4S1 which encodes a subunit of the adaptor protein complex 4 (AP-4). Using next-generation sequencing, we identified three novel unrelated SPG52...
Meta-analysis and multidisciplinary consensus statement
Siddharth Srivastava, Jamie A Love-Nichols, Kira A Dies, David H Ledbetter, Christa L Martin, Wendy K Chung, Helen V Firth, Thomas Frazier, Robin L Hansen, Lisa Prock, Han Brunner, Ny Hoang, Stephen W Scherer, Mustafa Sahin, David T Miller, NDD Exome Scoping Review Work
Group
Feb 12, 2021
PURPOSE: For neurodevelopmental disorders (NDDs), etiological evaluation can be a diagnostic odyssey involving numerous genetic tests, underscoring the need to develop a streamlined algorithm maximizing molecular diagnostic...
Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease.
Dale J Annear, Geert Vandeweyer, Ellen Elinck, Alba Sanchis-Juan, Courtney E French, Lucy Raymond, R Frank Kooy
Jan 28, 2021
Alleles Computational Biology Genetic Association Studies Genetic Predisposition to Disease Genome Human Genomic Instability Humans Microsatellite Instability Molecular Sequence Annotation Nervous System Diseases Neurodevelopmental Disorders Polymorphism Genetic Trinucleotide Repeat Expansion Trinucleotide Repeats
Clinical outcomes in pediatric intestinal failure
Aureliane Chantal Stania Pierret, James Thomas Wilkinson, Matthias Zilbauer, Jake Peter Mann
May 09, 2019
Defining Mental and Behavioural Disorders in Genetically Determined Neurodevelopmental Syndromes with Particular Reference to Prader-Willi Syndrome.
Genetically determined neurodevelopmental syndromes are frequently associated with a particular developmental trajectory, and with a cognitive profile and increased propensity to specific mental and behavioural disorders that...
Prader–Willi syndrome autism eating disorder Genetic syndrome major depressive illness mental illness Obsessive-Compulsive Disorder Psychosis Skin picking Comorbidity Genotype Humans Neurodevelopmental Disorders Phenotype Prader-Willi syndrome Problem Behavior Psychiatric Status Rating Scales Psychotic Disorders
Motor Abilities and the Motor Profile in Individuals with Williams Syndrome
Leighanne A. Mayall, Hana D’Souza, Elisabeth L. Hill, Annette Karmiloff-Smith, Andrew Tolmie, Emily K. Farran
Jul 28, 2021
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