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https://www.readbyqxmd.com/read/28346754/commentary-what-makes-a-life-go-well-moral-functioning-and-quality-of-life-measurement-in-neurodevelopmental-disorders-reflections-on-jonsson-et%C3%A2-al-2017
#1
Ilina Singh
Jonsson et al.'s excellent review of the literature on quality of life (QoL) and childhood mental and behavioural disorders (Jonsson et al., ) highlights the need for studies that utilise child self-reported QoL, in contrast to parent or proxy QoL measures, and further challenges the field to develop QoL measures that 'put the child's own views and priorities first'.
April 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28346043/structural-abnormalities-in-the-primary-somatosensory-cortex-and-a-normal-behavioral-profile-in-contactin-5-deficient-mice
#2
Kristel T E Kleijer, Denise van Nieuwenhuize, Henk A Spierenburg, Sara Gregorio-Jordan, Martien J H Kas, J Peter H Burbach
Contactin-5 (Cntn5) is an immunoglobulin cell adhesion molecule that is exclusively expressed in the central nervous system. In view of its association with neurodevelopmental disorders, particularly autism spectrum disorder (ASD), this study focused on Cntn5-positive areas in the forebrain and aimed to explore the morphological and behavioral phenotypes of the Cntn5 null mutant (Cntn5(-/-)) mouse in relation to these areas and ASD symptomatology. A newly generated antibody enabled us to elaborately describe the spatial expression pattern of Cntn5 in P7 wild type (Cntn5(+/+)) mice...
March 27, 2017: Cell Adhesion & Migration
https://www.readbyqxmd.com/read/28345950/introduction-to-special-issue-on-animal-models-of-neuropsychiatric-disorders-and-substance-use-disorders-progress-and-gaps
#3
Mark A Smith, Suzette M Evans
This is an introduction to the special issue, "Animal Models of Neuropsychiatric Disorders and Substance Use Disorders: Progress and Gaps." This issue presents 6 original research reports describing the use of mice and rats to model neurodevelopmental disorders, depressive disorders, anxiety disorders, and substance use disorders. Collectively, these studies demonstrate the progress of the field and the gaps and challenges that remain. They also illustrate the range of conditions that are informed by animal models and identify the clinical populations that stand to benefit from their use in preclinical research...
April 2017: Experimental and Clinical Psychopharmacology
https://www.readbyqxmd.com/read/28345801/zc4h2-deletions-can-cause-severe-phenotype-in-female-carriers
#4
Cristina Zanzottera, Donatella Milani, Enrico Alfei, Ambra Rizzo, Stefano D'Arrigo, Susanna Esposito, Chiara Pantaleoni
ZC4H2 is involved in human brain development, and, if mutated, can be responsible for a rare X-linked disorder, originally presented in literature as Wieacker-Wolff syndrome and Miles-Carpenter syndrome. In males, severe intellectual disability is associated with variable symptoms of central and peripheral nervous system involvement, such as spasticity, hyperreflexia, muscle weakness, and arthrogryposis. Female carriers are usually described as asymptomatic or only mildly affected. Here, we report on a girl carrying a de novo deletion of ZC4H2 detected by array-CGH analysis...
March 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28344652/molecular-cytogenetic-characterisation-of-a-novel-de-novo-ring-chromosome-6-involving-a-terminal-6p-deletion-and-terminal-6q-duplication-in-the-different-arms-of-the-same-chromosome
#5
Nikolai Paul Pace, Frideriki Maggouta, Melissa Twigden, Isabella Borg
BACKGROUND: Ring chromosome 6 is a rare sporadic chromosomal abnormality, associated with extreme variability in clinical phenotypes. Most ring chromosomes are known to have deletions on one or both chromosomal arms. Here, we report an atypical and unique ring chromosome 6 involving both a distal deletion and a distal duplication on the different arms of the same chromosome. CASE PRESENTATION: In a patient with intellectual disability, short stature, microcephaly, facial dysmorphology, congenital heart defects and renovascular disease, a ring chromosome 6 was characterised using array-CGH and dual-colour FISH...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28344592/dysbindin-deficiency-modifies-the-expression-of-gaba-neuron-and-ion-permeation-transcripts-in-the-developing-hippocampus
#6
Jennifer Larimore, Stephanie A Zlatic, Miranda Arnold, Kaela S Singleton, Rebecca Cross, Hannah Rudolph, Martha V Bruegge, Andrea Sweetman, Cecilia Garza, Eli Whisnant, Victor Faundez
The neurodevelopmental factor dysbindin is required for synapse function and GABA interneuron development. Dysbindin protein levels are reduced in the hippocampus of schizophrenia patients. Mouse dysbindin genetic defects and other mouse models of neurodevelopmental disorders share defective GABAergic neurotransmission and, in several instances, a loss of parvalbumin-positive interneuron phenotypes. This suggests that mechanisms downstream of dysbindin deficiency, such as those affecting GABA interneurons, could inform pathways contributing to or ameliorating diverse neurodevelopmental disorders...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28343630/de-novo-truncating-mutations-in-the-last-and-penultimate-exons-of-ppm1d-cause-an-intellectual-disability-syndrome
#7
Sandra Jansen, Sinje Geuer, Rolph Pfundt, Rachel Brough, Priyanka Ghongane, Johanna C Herkert, Elysa J Marco, Marjolein H Willemsen, Tjitske Kleefstra, Mark Hannibal, Joseph T Shieh, Sally Ann Lynch, Frances Flinter, David R FitzPatrick, Alice Gardham, Birgitta Bernhard, Nicola Ragge, Ruth Newbury-Ecob, Raphael Bernier, Malin Kvarnung, E A Helena Magnusson, Marja W Wessels, Marjon A van Slegtenhorst, Kristin G Monaghan, Petra de Vries, Joris A Veltman, Christopher J Lord, Lisenka E L M Vissers, Bert B A de Vries
Intellectual disability (ID) is a highly heterogeneous disorder involving at least 600 genes, yet a genetic diagnosis remains elusive in ∼35%-40% of individuals with moderate to severe ID. Recent meta-analyses statistically analyzing de novo mutations in >7,000 individuals with neurodevelopmental disorders highlighted mutations in PPM1D as a possible cause of ID. PPM1D is a type 2C phosphatase that functions as a negative regulator of cellular stress-response pathways by mediating a feedback loop of p38-p53 signaling, thereby contributing to growth inhibition and suppression of stress-induced apoptosis...
March 18, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28343092/the-impact-of-cumulative-pain-stress-on-neurobehavioral-development-of-preterm-infants-in-the-nicu
#8
Xiaomei Cong, Jing Wu, Dorothy Vittner, Wanli Xu, Naveed Hussain, Shari Galvin, Megan Fitzsimons, Jacqueline M McGrath, Wendy A Henderson
BACKGROUND: Vulnerable preterm infants experience repeated and prolonged pain/stress stimulation during a critical period in their development while in the neonatal intensive care unit (NICU). The contribution of cumulative pain/stressors to altered neurodevelopment remains unclear. The study purpose was to investigate the impact of early life painful/stressful experiences on neurobehavioral outcomes of preterm infants in the NICU. METHODS: A prospective exploratory study was conducted with fifty preterm infants (28 0/7-32 6/7weeks gestational age) recruited at birth and followed for four weeks...
March 23, 2017: Early Human Development
https://www.readbyqxmd.com/read/28343040/the-influence-of-lead-content-in-drinking-water-household-dust-soil-and-paint-on-blood-lead-levels-of-children-in-flin-flon-manitoba-and-creighton-saskatchewan
#9
Adam M Safruk, Erin McGregor, Melissa L Whitfield Aslund, Paul H Cheung, Celine Pinsent, Blair J Jackson, Alan T Hair, Murray Lee, Elliot A Sigal
Lead exposure continues to be an important health issue despite the general removal of lead sources in commercial and industrial applications. Low levels of lead exposure have been found to produce adverse neurodevelopmental effects in children with no evidence that a threshold exists for this critical endpoint. Blood lead levels (BLLs) were measured in children (n=118) under the age of 7years in the northern Canadian smelter community of Flin Flon, Manitoba and Creighton, Saskatchewan. An environmental sampling component was included to examine the relationship between lead content in outdoor soil, household dust, tap water, and paint within a given household and the corresponding BLLs in participating children...
March 23, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28342684/persistent-pulmonary-hypertension-of-the-newborn
#10
REVIEW
Mamta Fuloria, Judy L Aschner
Failure of the normal circulatory adaptation to extrauterine life results in persistent pulmonary hypertension of the newborn (PPHN). Although this condition is most often secondary to parenchymal lung disease or lung hypoplasia, it may also be idiopathic. PPHN is characterized by elevated pulmonary vascular resistance with resultant right-to-left shunting of blood and hypoxemia. Although the preliminary diagnosis of PPHN is often based on differential cyanosis and labile hypoxemia, the diagnosis is confirmed by echocardiography...
March 23, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28342581/neurodevelopmental-outcomes-in-infants-undergoing-general-anesthesia
#11
Kelsey A Nestor, Michelle Zeidan, Erin Boncore, Aaron Richardson, Gijo Alex, Michael Weiss, Saleem Islam
PURPOSE: Preclinical data strongly suggest that all agents used for general anesthesia (GA) have detrimental effects on the developing brain. However, clinical data are unclear. The purpose of this study was to use a cohort of infants who underwent GA and understand their neurodevelopmental outcomes. METHODS: A cohort of infants who underwent GA was selected between 2010 and 2011, and a control group was created. Data regarding GA, procedures, and outcomes were collected in 2015...
March 16, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28342013/the-evaluation-of-folic-acid-deficient-or-folic-acid-supplemented-diet-in-the-gestational-phase-of-female-rats-and-in-their-adult-offspring-subjected-to-an-animal-model-of-schizophrenia
#12
L Canever, C S V Alves, G Mastella, L Damázio, J V Polla, S Citadin, L A De Luca, A S Barcellos, M L Garcez, J Quevedo, J Budni, A I Zugno
Although folic acid (FA) supplementation is known to influence numerous physiological functions, especially during pregnancy, little is known about its direct effects on the mothers' health. However, this vitamin is essential for the health of the mother and for the normal growth and development of the fetus. Thus, the aim of this study was (1) to evaluate the cognitive effects and biochemical markers produced by the AIN-93 diet (control), the AIN-93 diet supplemented with different doses of FA (5, 10, and 50 mg/kg), and a FA-deficient diet during pregnancy and lactation in female mother rats (dams) and (2) to evaluate the effect of maternal diets on inflammatory parameters in the adult offspring which were subjected to an animal model of schizophrenia (SZ) induced by ketamine (Ket)...
March 24, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28341901/hypoplastic-left-heart-syndrome-is-not-associated-with-worse-clinical-or-neurodevelopmental-outcomes-than-other-cardiac-pathologies-after-the-norwood-sano-operation
#13
Billie-Jean Martin, I De Villiers Jonker, Ari R Joffe, Gwen Y Bond, Bryan V Acton, David B Ross, Charlene M T Robertson, Ivan M Rebeyka, Joseph Atallah
There is evidence to suggest that patients undergoing a Norwood for non-HLHS anatomy may have lower mortality than classic HLHS, but differences in neurodevelopmental outcome have not been assessed. Our objective was to compare survival and neurodevelopmental outcome during the same surgical era in a large, well-described cohort. All subjects who underwent a Norwood-Sano operation between 2005 and 2014 were included. Follow-up clinical, neurological, and developmental data were obtained from the Western Canadian Complex Pediatric Therapies Follow-up Program database...
March 24, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28341829/usp9x-deubiquitylating-enzyme-maintains-raptor-protein-levels-mtorc1-signalling-and-proliferation-in-neural-progenitors
#14
Caitlin R Bridges, Men-Chee Tan, Susitha Premarathne, Devathri Nanayakkara, Bernadette Bellette, Dusan Zencak, Deepti Domingo, Jozef Gecz, Mariyam Murtaza, Lachlan A Jolly, Stephen A Wood
USP9X, is highly expressed in neural progenitors and, essential for neural development in mice. In humans, mutations in USP9X are associated with neurodevelopmental disorders. To understand USP9X's role in neural progenitors, we studied the effects of altering its expression in both the human neural progenitor cell line, ReNcell VM, as well as neural stem and progenitor cells derived from Nestin-cre conditionally deleted Usp9x mice. Decreasing USP9X resulted in ReNcell VM cells arresting in G0 cell cycle phase, with a concomitant decrease in mTORC1 signalling, a major regulator of G0/G1 cell cycle progression...
March 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28341645/paroxysmal-eye-head-movements-in-glut1-deficiency-syndrome
#15
Toni S Pearson, Roser Pons, Kristin Engelstad, Steven A Kane, Michael E Goldberg, Darryl C De Vivo
OBJECTIVE: To describe a characteristic paroxysmal eye-head movement disorder that occurs in infants with Glut1 deficiency syndrome (Glut1 DS). METHODS: We retrospectively reviewed the medical charts of 101 patients with Glut1 DS to obtain clinical data about episodic abnormal eye movements and analyzed video recordings of 18 eye movement episodes from 10 patients. RESULTS: A documented history of paroxysmal abnormal eye movements was found in 32/101 patients (32%), and a detailed description was available in 18 patients, presented here...
March 24, 2017: Neurology
https://www.readbyqxmd.com/read/28341525/two-year-follow-up-outcomes-of-premature-infants-enrolled-in-the-phase-i-trial-of-mesenchymal-stem-cells-transplantation-for-bronchopulmonary-dysplasia
#16
So Yoon Ahn, Yun Sil Chang, Ji Hye Kim, Se In Sung, Won Soon Park
OBJECTIVE: To determine the long-term safety and outcomes of mesenchymal stem cells (MSCs) for bronchopulmonary dysplasia in premature infants enrolled in a previous phase I clinical trial up to 2 years of corrected age (CA). STUDY DESIGN: We assessed serious adverse events, somatic growth, and respiratory and neurodevelopmental outcomes at visit 1 (4-6 months of CA), visit 2 (8-12 months of CA), and visit 3 (18-24 months of CA) in a prospective longitudinal follow-up study up to 2 years' CA of infants who received MSCs (MSC group)...
March 21, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28341474/anti-vascular-endothelial-growth-factor-therapy-for-primary-treatment-of-type-1-retinopathy-of-prematurity-a-report-by-the-american-academy-of-ophthalmology
#17
Deborah K VanderVeen, Michele Melia, Michael B Yang, Amy K Hutchinson, Lorri B Wilson, Scott R Lambert
PURPOSE: To review the available evidence on the ocular safety and efficacy of anti-vascular endothelial growth factor (VEGF) agents for the treatment of retinopathy of prematurity (ROP) compared with laser photocoagulation therapy. METHODS: A literature search of the PubMed and Cochrane Library databases was conducted last on September 6, 2016, with no date restrictions and limited to articles published in English. This search yielded 311 citations, of which 37 were deemed clinically relevant for full-text review...
March 21, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28341233/neonatal-reflexes-and-behavior-in-hypertensive-rats-of-isiah-strain
#18
Diana S Ragaeva, Maria A Tikhonova, Olga M Petrova, Tatjana N Igonina, Irina N Rozkova, Eugeny Yu Brusentsev, Tamara G Amstislavskaya, Sergey Ya Amstislavsky
Hypertension is one of the most common diseases in humans, and there is a special concern on the consequences of maternal hypertensive conditions for the health of newborns. An inherited stress-induced arterial hypertension (ISIAH) rat strain has been selected but only a few studies have addressed behavior in these rats. Body weight, neurodevelopmental reflexes, and neuronal density in the hippocampus were compared in ISIAH and normotensive WAG rats during their suckling period. Systolic and diastolic blood pressure (SBP, DBP), adult rat performance in the open field (OF), elevated plus maze (EPM), and novel object recognition (NOR) tests were evaluated at the age of 12-14weeks old...
March 21, 2017: Physiology & Behavior
https://www.readbyqxmd.com/read/28340985/autoimmunity-autoantibodies-and-autism-spectrum-disorder
#19
REVIEW
Elizabeth Edmiston, Paul Ashwood, Judy Van de Water
Auism spectrum disorder (ASD) now affects one in 68 births in the United States and is the fastest growing neurodevelopmental disability worldwide. Alarmingly, for the majority of cases, the causes of ASD are largely unknown, but it is becoming increasingly accepted that ASD is no longer defined simply as a behavioral disorder, but rather as a highly complex and heterogeneous biological disorder. Although research has focused on the identification of genetic abnormalities, emerging studies increasingly suggest that immune dysfunction is a viable risk factor contributing to the neurodevelopmental deficits observed in ASD...
March 1, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/28338817/risk-factor-models-for-neurodevelopmental-outcomes-in-children-born-very-preterm-or-with-very-low-birth-weight-a-systematic-review-of-methodology-and-reporting
#20
Louise Linsell, Reem Malouf, Joan Morris, Jennifer J Kurinczuk, Neil Marlow
The prediction of long-term outcomes in surviving infants born very preterm (VPT) or with very low birth weight (VLBW) is necessary to guide clinical management, provide information to parents, and help target and evaluate interventions. There is a large body of literature describing risk factor models for neurodevelopmental outcomes in VPT/VLBW children, yet few, if any, have been developed for use in routine clinical practice or adopted for use in research studies or policy evaluation. We sought to systematically review the methods and reporting of studies that have developed a multivariable risk factor model for neurodevelopment in surviving VPT/VLBW children...
March 3, 2017: American Journal of Epidemiology
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