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Neurodevelopmental Syndromes

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https://www.readbyqxmd.com/read/28108439/de-novo-2p16-1-microdeletion-with-metastatic-esophageal-adenocarcinoma
#1
Don Chamil Codipilly, Ralitza H Gavrilova, Eric G Tangalos
Microdeletions involving chromosome 2p15-16.1 are a rare genetic abnormality and have been reported in 18 separate patients, mainly children, since 2007. This microdeletion syndrome is characterised by a heterogeneous expression of intellectual impairment, dysmorphic facies, musculoskeletal abnormalities and potential neurodevelopmental anomalies. We report the first case of natural progression in an adult patient who died at a young age of metastatic esophageal adenocarcinoma. Important learning points include the variable phenotypic expression of this microdeletion syndrome and the fact that clinicians must be thorough in investigating objective discrepancies in patients who cannot endorse classical symptoms...
January 20, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28106060/brain-microvasculature-defects-and-glut1-deficiency-syndrome-averted-by-early-repletion-of-the-glucose-transporter-1-protein
#2
Maoxue Tang, Guangping Gao, Carlos B Rueda, Hang Yu, David N Thibodeaux, Tomoyuki Awano, Kristin M Engelstad, Maria-Jose Sanchez-Quintero, Hong Yang, Fanghua Li, Huapeng Li, Qin Su, Kara E Shetler, Lynne Jones, Ryan Seo, Jonathan McConathy, Elizabeth M Hillman, Jeffrey L Noebels, Darryl C De Vivo, Umrao R Monani
Haploinsufficiency of the SLC2A1 gene and paucity of its translated product, the glucose transporter-1 (Glut1) protein, disrupt brain function and cause the neurodevelopmental disorder, Glut1 deficiency syndrome (Glut1 DS). There is little to suggest how reduced Glut1 causes cognitive dysfunction and no optimal treatment for Glut1 DS. We used model mice to demonstrate that low Glut1 protein arrests cerebral angiogenesis, resulting in a profound diminution of the brain microvasculature without compromising the blood-brain barrier...
January 20, 2017: Nature Communications
https://www.readbyqxmd.com/read/28104401/leading-causes-of-preterm-delivery-as-risk-factors-for-intraventricular-hemorrhage-in-very-preterm-infants-results-of-the-epipage-2-cohort-study
#3
Marie Chevallier, Thierry Debillon, Veronique Pierrat, Pierre Delorme, Gilles Kayem, Mélanie Durox, François Goffinet, Stephane Marret, Pierre Yves Ancel
BACKGROUND: Intraventricular hemorrhage is a major risk factor for neurodevelopmental disabilities in preterm infants. However, few studies have investigated how pregnancy complications responsible for preterm delivery are related to intraventricular hemorrhage. OBJECTIVE: To investigate the association between the main causes of preterm delivery and intraventricular hemorrhage in very preterm infants born in France during 2011 between 22 and 31 weeks of gestation...
January 16, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28099872/assessment-of-gait-and-sensorimotor-deficits-in-the-d1ct-7-mouse-model-of-tourette-syndrome
#4
Stephen C Fowler, Laura J Mosher, Sean C Godar, Marco Bortolato
Tourette syndrome (TS) is a neurodevelopmental disorder characterized by multiple motor and phonic tics. While TS patients have been also shown to exhibit subtle abnormalities of sensorimotor integration and gait, animal models of this disorder are seldom tested for these functions. To fill this gap, we assessed gait and sensorimotor integration in the D1CT-7 mouse, one of the best-validated animal models of TS. D1CT-7 mice exhibit spontaneous tic-like manifestations, which, in line with the clinical phenomenology of TS, are markedly exacerbated by environmental stress...
January 15, 2017: Journal of Neuroscience Methods
https://www.readbyqxmd.com/read/28098153/mecp2-regulates-cortical-plasticity-underlying-a-learned-behaviour-in-adult-female-mice
#5
Keerthi Krishnan, Billy Y B Lau, Gabrielle Ewall, Z Josh Huang, Stephen D Shea
Neurodevelopmental disorders are marked by inappropriate synaptic connectivity early in life, but how disruption of experience-dependent plasticity contributes to cognitive and behavioural decline in adulthood is unclear. Here we show that pup gathering behaviour and associated auditory cortical plasticity are impaired in female Mecp2(het) mice, a model of Rett syndrome. In response to learned maternal experience, Mecp2(het) females exhibited transient changes to cortical inhibitory networks typically associated with limited plasticity...
January 18, 2017: Nature Communications
https://www.readbyqxmd.com/read/28093677/communication-intervention-for-young-children-with-severe-neurodevelopmental-disabilities-via-telehealth
#6
Jessica Simacek, Adele F Dimian, Jennifer J McComas
Young children with neurodevelopmental disorders such as autism spectrum disorders (ASD) and Rett syndrome often experience severe communication impairments. This study examined the efficacy of parent-implemented communication assessment and intervention with remote coaching via telehealth on the acquisition of early communication skills of three young children with ASD (2) and Rett syndrome (1). Efficacy of the intervention was evaluated using single-case experimental designs. First, functional assessment was used to identify idiosyncratic/potentially communicative responses and contexts for each child...
January 16, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28093507/mosaic-expression-of-atrx-in-the-central-nervous-system-causes-memory-deficits
#7
Renee J Tamming, Jennifer R Siu, Yan Jiang, Marco A M Prado, Frank Beier, Nathalie G Bérubé
The rapid modulation of chromatin organization is thought to play a critical role in cognitive processes such as memory consolidation. This is supported in part by the dysregulation of many chromatin remodeling proteins in neurodevelopmental and psychiatric disorders. A key example is ATRX, an X-linked gene commonly mutated in individuals with syndromic and non-syndromic intellectual disability (ID). The consequences of Atrx inactivation on learning and memory have been difficult to evaluate due to the early lethality of hemizygous-null animals...
January 12, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28093257/selective-preservation-of-cholinergic-mecp2-rescues-specific-rett-syndrome-like-phenotypes-in-mecp2-stop-mice
#8
Huanhuan Zhou, Wei Wu, Ying Zhang, Haiyang He, Zhefeng Yuan, Zhiwei Zhu, Zhengyan Zhao
RTT is a neurodevelopmental disorder characterized by growth regression, motor dysfunction, stereotypic hand movements, and autism features. Typical Rett syndrome (RTT) is predominantly caused by mutations in X-linked MeCP2 gene which encodes methyl-CpG-binding protein 2 (MeCP2). The brain-abundant MeCP2 protein mainly functions as a transcriptional regulator for neurodevelopment-associated genes. Specific functions of MeCP2 in certain neuron types remain to be known. Although cholinergic system is an important modulating system in brain, how MeCP2 in cholinergic neurons contribute to RTT has not been clearly understood...
January 16, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28089766/males-with-mecp2-c-terminal-related-atypical-rett-syndromes-and-their-carrier-mothers
#9
Gabriel M Ronen, Lauren I Brady, Mark A Tarnopolsky
BACKGROUND: This communication examines the expanding phenotypes of the MECP2 C-terminal atypical Rett syndromes in males and their affected carrier mothers. DESCRIPTIONS: We describe three males with normal karyotypes who presented with congenital evolving complex neurodevelopmental encephalopathies with multifaceted symptomatology of hypotonia, epilepsy, ataxia, spasticity, movement disorders, behavioral issues, severe intellectual impairment, and communication skills, and a protracted regression phase followed by stabilization...
October 25, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/28088314/is-advanced-paternal-age-a-health-risk-for-the-offspring
#10
REVIEW
Anne-Marie Nybo Andersen, Stine Kjaer Urhoj
In this article we review the epidemiologic evidence for adverse health effects in offspring of fathers of advanced age. First the evidence regarding fetal survival is addressed, and afterward we review the evidence regarding morbidity in children with older fathers. The adverse conditions most consistently associated with increased paternal age are stillbirths, musculo-skeletal syndromes, cleft palate, acute lymphoblastic leukemia and retinoblastoma, and neurodevelopmental disorders in the autism spectrum and schizophrenia...
January 11, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28087721/joubert-syndrome-neuroimaging-findings-in-110-patients-in-correlation-with-cognitive-function-and-genetic-cause
#11
Andrea Poretti, Joseph Snow, Angela C Summers, Aylin Tekes, Thierry A G M Huisman, Nafi Aygun, Kathryn A Carson, Dan Doherty, Melissa A Parisi, Camilo Toro, Deniz Yildirimli, Meghana Vemulapalli, Jim C Mullikin, Andrew R Cullinane, Thierry Vilboux, William A Gahl, Meral Gunay-Aygun
BACKGROUND: Joubert syndrome is a clinically and genetically heterogeneous ciliopathy. Neuroimaging findings have not been systematically evaluated in a large cohort of patients with Joubert syndrome in correlation with molecular genetic cause and cognitive function. METHODS: Brain MRI of 110 patients with Joubert syndrome was included in this study. A comprehensive evaluation of brain MRI studies for infratentorial and supratentorial morphological abnormalities was performed...
January 13, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28078206/infectious-atopic-and-inflammatory-diseases-childhood-adversities-and-familial-aggregation-are-independently-associated-with-the-risk-for-mental-disorders-results-from-a-large-swiss-epidemiological-study
#12
Vladeta Ajdacic-Gross, Aleksandra Aleksandrowicz, Stephanie Rodgers, Margot Mutsch, Anja Tesic, Mario Müller, Wolfram Kawohl, Wulf Rössler, Erich Seifritz, Enrique Castelao, Marie-Pierre F Strippoli, Caroline Vandeleur, Roland von Känel, Rosa Paolicelli, Markus A Landolt, Cornelia Witthauer, Roselind Lieb, Martin Preisig
AIM: To examine the associations between mental disorders and infectious, atopic, inflammatory diseases while adjusting for other risk factors. METHODS: We used data from PsyCoLaus, a large Swiss Population Cohort Study (n = 3720; age range 35-66). Lifetime diagnoses of mental disorders were grouped into the following categories: Neurodevelopmental, anxiety (early and late onset), mood and substance disorders. They were regressed on infectious, atopic and other inflammatory diseases adjusting for sex, educational level, familial aggregation, childhood adversities and traumatic experiences in childhood...
December 22, 2016: World Journal of Psychiatry
https://www.readbyqxmd.com/read/28071689/haploinsufficiency-of-ehmt1-improves-pattern-separation-and-increases-hippocampal-cell-proliferation
#13
Marco Benevento, Charlotte A Oomen, Alexa E Horner, Houshang Amiri, Tessa Jacobs, Charlotte Pauwels, Monica Frega, Tjitske Kleefstra, Maksym V Kopanitsa, Seth G N Grant, Timothy J Bussey, Lisa M Saksida, Catharina E E M Van der Zee, Hans van Bokhoven, Jeffrey C Glennon, Nael Nadif Kasri
Heterozygous mutations or deletions of the human Euchromatin Histone Methyltransferase 1 (EHMT1) gene are the main causes of Kleefstra syndrome, a neurodevelopmental disorder that is characterized by impaired memory, autistic features and mostly severe intellectual disability. Previously, Ehmt1(+/-) heterozygous knockout mice were found to exhibit cranial abnormalities and decreased sociability, phenotypes similar to those observed in Kleefstra syndrome patients. In addition, Ehmt1(+/-) knockout mice were impaired at fear extinction and novel- and spatial object recognition...
January 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28069353/effects-of-chronic-exposure-to-low-dose-thip-on-brainstem-neuronal-excitability-in-mouse-models-of-rett-syndrome-evidence-from-symptomatic-females
#14
Weiwei Zhong, Christopher Mychal Johnson, Ningren Cui, Hao Xing, Yang Wu, Chun Jiang
Rett Syndrome (RTT) is a neurodevelopmental disorder caused by mutations of the MECP2 gene, affecting predominantly females. One of the characteristic features of the disease is defective brainstem autonomic function. In Mecp2(-/Y) mice, several groups of brainstem neurons are overly excitable, which causes destabilization of neuronal networks for the autonomic control. We have previously shown that the extrasynaptic GABAA receptor agonist THIP relieves many RTT-like symptoms in Mecp2(-/Y) mice. Although neuronal activity is inhibited by acute THIP exposure, how a chronic treatment affects neuronal excitability remains elusive...
January 6, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28067007/vaginal-progesterone-decreases-preterm-birth-and-neonatal-morbidity-and-mortality-in-women-with-a-twin-gestation-and-a-short-cervix-an-updated-meta-analysis-of-individual-patient-data
#15
REVIEW
Roberto Romero, Agustin Conde-Agudelo, Waleed El-Refaie, Line Rode, Maria L Brizot, Elcin Cetingoz, Vicente Serra, Eduardo da Fonseca, Mohamed S Abdelhafez, Ann Tabor, Alfredo Perales, Sonia S Hassan, Kypros H Nicolaides
OBJECTIVE: To assess the efficacy of vaginal progesterone for the prevention of preterm birth and neonatal morbidity and mortality in asymptomatic women with a twin gestation and a sonographic short cervix (cervical length ≤25 mm) in the midtrimester. METHODS: Updated systematic review and meta-analysis of individual patient data from randomized controlled trials comparing vaginal progesterone with placebo/no treatment in women with a twin gestation and a midtrimester sonographic cervical length ≤25 mm...
January 9, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28063942/4-hydroxynonenal-protein-adducts-key-mediator-in-rett-syndrome-oxinflammation
#16
REVIEW
Giuseppe Valacchi, Alessandra Pecorelli, Carlo Cervellati, Joussef Hayek
In the last 15 years a strong correlation between oxidative stress (OxS) and Rett syndrome (RTT), a rare neurodevelopmental disorder known to be caused in 95% of the cases, by a mutation in the methyl-CpG-binding protein 2 (MECP2) gene, has been well documented. Here, we revised, summarized and discussed the current knowledge on the role of lipid peroxidation byproducts, with special emphasis on 4-hydroxynonenal (4HNE), in RTT pathophysiology. The posttranslational modifications of proteins via 4HNE, known as 4HNE protein adducts (4NHE-PAs), causing detrimental effects on protein functions, appear to contribute to the clinical severity of the syndrome, since their levels increase significantly during the subsequent 4 clinical stages, reaching the maximum degree at stage 4, represented by a late motor deterioration...
January 5, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28063007/oxygen-exchange-and-energy-metabolism-in-erythrocytes-of-rett-syndrome-and-their-relationships-with-respiratory-alterations
#17
Chiara Ciaccio, Donato Di Pierro, Diego Sbardella, Grazia Raffaella Tundo, Paolo Curatolo, Cinzia Galasso, Marta Elena Santarone, Maurizio Casasco, Paola Cozza, Alessio Cortelazzo, Marcello Rossi, Claudio De Felice, Joussef Hayek, Massimo Coletta, Stefano Marini
Rett syndrome (RTT) is a neurodevelopmental disorder, mainly affecting females, which is associated to a mutation on the methyl-CpG-binding protein 2 gene. In the pathogenesis and progression of classic RTT, red blood cell (RBC) morphology has been shown to be an important biosensor for redox imbalance and chronic hypoxemia. Here we have evaluated the impact of oxidation and redox imbalance on several functional properties of RTT erythrocytes. In particular, we report for the first time a stopped-flow measurement of the kinetics of oxygen release by RBCs and the analysis of the intrinsic affinity of the hemoglobin (Hb)...
January 7, 2017: Molecular and Cellular Biochemistry
https://www.readbyqxmd.com/read/28057638/an-international-registry-of-survivors-with-hb-bart-s-hydrops-fetalis-syndrome
#18
Duantida Songdej, Christian Babbs, Douglas R Higgs
Hb Bart's Hydrops Fetalis Syndrome (BHFS) resulting from α(0)-thalassemia is considered a universally fatal disorder. However, over the last three decades improvements in intrauterine interventions and perinatal intensive care have resulted in increasing numbers of BHFS survivors. We have initiated an international registry containing information on 69 patients, of which 31 are previously unpublished. In this perspective we analyze the available clinical information to document the natural history of BHFS...
January 5, 2017: Blood
https://www.readbyqxmd.com/read/28046103/transcriptome-profiling-identifies-ribosome-biogenesis-as-a-target-of-alcohol-teratogenicity-and-vulnerability-during-early-embryogenesis
#19
Mark E Berres, Ana Garic, George R Flentke, Susan M Smith
Fetal alcohol spectrum disorder (FASD) is a leading cause of neurodevelopmental disability. Individuals with FASD may exhibit a characteristic facial appearance that has diagnostic utility. The mechanism by which alcohol disrupts craniofacial development is incompletely understood, as are the genetic factors that can modify individual alcohol vulnerability. Using an established avian model, we characterized the cranial transcriptome in response to alcohol to inform the mechanism underlying these cells' vulnerability...
2017: PloS One
https://www.readbyqxmd.com/read/28041919/negative-subthreshold-psychotic-symptoms-distinguish-22q11-2-deletion-syndrome-from-other-neurodevelopmental-disorders-a-two-site-study
#20
Ehud Mekori-Domachevsky, Yael Guri, James Yi, Omri Weisman, Monica E Calkins, Sunny X Tang, Raz Gross, Donna M McDonald-McGinn, Beverly S Emanuel, Elaine H Zackai, Gil Zalsman, Abraham Weizman, Ruben C Gur, Raquel E Gur, Doron Gothelf
About one third of individuals with 22q11.2 deletion syndrome (22q11.2DS) develop schizophrenia. Notably, a full-blown psychotic disorder is usually preceded by subthreshold symptoms. Therefore, it is important to identify early signs of psychosis in this population, a task that is complicated by the intellectual disabilities typically seen in 22q11.2DS. We aimed to identify subthreshold psychotic symptoms that distinguish 22q11.2DS from other neurodevelopmental disorders. The study included two independent cohorts from Tel Aviv and Philadelphia...
December 29, 2016: Schizophrenia Research
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