Search results for "neurodevelopment"
showing 10 items of 140 documents
Short-Term Neurodevelopmental Outcome in Term Neonates Treated with Phenobarbital versus Levetiracetam: A Single-Center Experience
2019
Background. Phenobarbital (PB) has been traditionally used as the first-line treatment for neonatal seizures. More recently, levetiracetam (LEV) has been increasingly used as a promising newer antiepileptic medication for treatment of seizures in neonates. Objectives. The aim of our study was to compare the effect of PB vs. LEV on short-term neurodevelopmental outcome in infants treated for neonatal seizures. Method. This randomized, one-blind prospective study was conducted on term neonates admitted to the Neonatal Intensive Care Unit of S. Bambino Hospital, University Hospital “Policlinico-Vittorio Emanuele,” Catania, Italy, from February 2016 to February 2018. Thirty term neonates with s…
ADHD symptoms and learning behaviors in children with ASD without intellectual disability. A mediation analysis of executive functions
2018
In spite of its importance for education, the relationship between learning behaviors (LB), attention deficit hyperactivity disorder symptoms (ADHD) and executive functioning (EF) in children with autism spectrum disorder (ASD) has hardly been explored. The first objective of the present study was to compare children with ASD without intellectual disability and children with typical development (TD) on ADHD symptoms and learning behaviors: Motivation/ competence, attitude toward learning, persistence on the task, and strategy/flexibility. The second objective was to analyze the mediator role of behavioral regulation and metacognition components of EF between ADHD symptoms and learning behav…
Preschool executive control on the Shape School task: Measurement considerations and utility.
2011
Executive functions (EF) necessary for purposeful goal-directed activities undergo rapid change and development during the preschool years. However, of the few psychometrically valid measures of EF suitable for use with preschoolers, information on task sensitivity and predictive validity is scant. The neurodevelopmental correlates of early executive difficulties are also largely unknown. In this study, the discriminant and predictive validity of the recently developed Shape School task (Espy, Bull, Martin, & Stroup, 2006) was examined with data from a regional sample of 209 preschool children at age 4 years. A 2-tiered measurement approach was used, with task completion examined in additio…
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
2019
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca2+-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE). In functional expression studies, mutations lead to a dec…
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
2019
See Karakaya and Wirth (doi:10.1093/brain/awz273) for a scientific commentary on this article. Neurofascin (NFASC) isoforms are immunoglobulin cell adhesion molecules involved in node of Ranvier assembly. Efthymiou et al. identify biallelic NFASC variants in ten unrelated patients with a neurodevelopmental disorder characterized by variable degrees of central and peripheral involvement. Abnormal expression of Nfasc155 is accompanied by severe loss of myelinated fibres.
Association of Maternal Iodine Status With Child IQ: A Meta-Analysis of Individual Participant Data
2019
Abstract Context Although the consequences of severe iodine deficiency are beyond doubt, the effects of mild to moderate iodine deficiency in pregnancy on child neurodevelopment are less well established. Objective To study the association between maternal iodine status during pregnancy and child IQ and identify vulnerable time windows of exposure to suboptimal iodine availability. Design Meta-analysis of individual participant data from three prospective population-based birth cohorts: Generation R (Netherlands), INMA (Spain), and ALSPAC (United Kingdom); pregnant women were enrolled between 2002 and 2006, 2003 and 2008, and 1990 and 1992, respectively. Setting General community. Participa…
Minor physical anomalies in children with autism spectrum disorder.
2007
Abstract Aim To investigate the rate and topological profile of minor physical anomalies (MPAs) (prenatal errors of morphogenesis) in a group of children with Autism Spectrum Disorder (ASD), in order to better set a temporal framing of embryological factors involved in the neurodevelopmental etiology. Method A new modified Waldrop scale and a mixed approach of computerized photogrammetry and classic anthroposcopy was used to detect the presence or absence of 41 MPAs in 24 children (mean age: 7 years; sex ratio: 22M:2F) with ASD and 24 healthy comparison subjects (mean age: 7 years; sex ratio: 19M:5F) selected with DSM IV and CARS. Results We found that children with ASD presenting MPAs (n =…
A systematic review of neurodevelopmental effects of prenatal and postnatal organophosphate pesticide exposure
2014
Agricultural and residential use of organophosphate (OP) pesticides has increased in recent decades after banning some persistent pesticides. Although there is evidence of the effects of OPs on neurodevelopment and behaviour in adults, limited information is available about their effects in children, who might be more vulnerable to neurotoxic compounds. This paper was aimed at analysing the scientific evidence published to date on potential neurodevelopmental and behavioural effects of prenatal and postnatal exposure to OPs. A systematic review was undertaken to identify original articles published up to December 2012 evaluating prenatal or postnatal exposure to OPs in children and effects …
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes
2015
Contains fulltext : 153827.pdf (Publisher’s version ) (Open Access) Ablepharon macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are rare congenital ectodermal dysplasias characterized by similar clinical features. To establish the genetic basis of AMS and BSS, we performed extensive clinical phenotyping, whole exome and candidate gene sequencing, and functional validations. We identified a recurrent de novo mutation in TWIST2 in seven independent AMS-affected families, as well as another recurrent de novo mutation affecting the same amino acid in ten independent BSS-affected families. Moreover, a genotype-phenotype correlation was observed, because the two syndromes differed based s…
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
2021
International audience; The collapsin response mediator protein (CRMP) family proteins are intracellular mediators of neurotrophic factors regulating neurite structure/spine formation and are essential for dendrite patterning and directional axonal pathfinding during brain developmental processes. Among this family, CRMP5/DPYSL5 plays a significant role in neuronal migration, axonal guidance, dendrite outgrowth, and synapse formation by interacting with microtubules. Here, we report the identification of missense mutations in DPYSL5 in nine individuals with brain malformations, including corpus callosum agenesis and/or posterior fossa abnormalities, associated with variable degrees of intel…