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neurodevelopmental disorder

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https://www.readbyqxmd.com/read/29145497/rare-genetic-variants-in-the-endocannabinoid-system-genes-cnr1-and-dagla-are-associated-with-neurological-phenotypes-in-humans
#1
Douglas R Smith, Christine M Stanley, Theodore Foss, Richard G Boles, Kevin McKernan
Rare genetic variants in the core endocannabinoid system genes CNR1, CNR2, DAGLA, MGLL and FAAH were identified in molecular testing data from 6,032 patients with a broad spectrum of neurological disorders. The variants were evaluated for association with phenotypes similar to those observed in the orthologous gene knockouts in mice. Heterozygous rare coding variants in CNR1, which encodes the type 1 cannabinoid receptor (CB1), were found to be significantly associated with pain sensitivity (especially migraine), sleep and memory disorders-alone or in combination with anxiety-compared to a set of controls without such CNR1 variants...
2017: PloS One
https://www.readbyqxmd.com/read/29142228/genome-wide-mapping-of-genetic-determinants-influencing-dna-methylation-and-gene-expression-in-human-hippocampus
#2
Herbert Schulz, Ann-Kathrin Ruppert, Stefan Herms, Christiane Wolf, Nazanin Mirza-Schreiber, Oliver Stegle, Darina Czamara, Andreas J Forstner, Sugirthan Sivalingam, Susanne Schoch, Susanne Moebus, Benno Pütz, Axel Hillmer, Nadine Fricker, Hartmut Vatter, Bertram Müller-Myhsok, Markus M Nöthen, Albert J Becker, Per Hoffmann, Thomas Sander, Sven Cichon
Emerging evidence emphasizes the strong impact of regulatory genomic elements in neurodevelopmental processes and the complex pathways of brain disorders. The present genome-wide quantitative trait loci analyses explore the cis-regulatory effects of single-nucleotide polymorphisms (SNPs) on DNA methylation (meQTL) and gene expression (eQTL) in 110 human hippocampal biopsies. We identify cis-meQTLs at 14,118 CpG methylation sites and cis-eQTLs for 302 3'-mRNA transcripts of 288 genes. Hippocampal cis-meQTL-CpGs are enriched in flanking regions of active promoters, CpG island shores, binding sites of the transcription factor CTCF and brain eQTLs...
November 15, 2017: Nature Communications
https://www.readbyqxmd.com/read/29141840/cerebral-oxygenation-measurements-by-magnetic-resonance-imaging-in-fetuses-with-and-without-heart-defects
#3
Mette H Lauridsen, Niels Uldbjerg, Tine B Henriksen, Olav B Petersen, Brian Stausbøl-Grøn, Niels B Matthiesen, David A Peters, Steffen Ringgaard, Vibeke E Hjortdal
BACKGROUND: Children with major congenital heart defects are risking impaired cerebral growth, delayed cerebral maturation, and neurodevelopmental disorders. We aimed to compare the cerebral tissue oxygenation of fetuses with major heart defects to that of fetuses without heart defects as estimated by the magnetic resonance imaging modality T2*. T2* is low in areas with high concentrations of deoxyhemoglobin. METHODS AND RESULTS: At gestational age mean 32 weeks (early) and mean 37 weeks (late), we compared the fetal cerebral T2* in 28 fetuses without heart defects to that of 15 fetuses with major heart defects: transposition of the great arteries (n=7), coarctation of the aorta/hypoplastic aortic arch (n=5), tetralogy of Fallot (n=1), hypoplastic right heart (n=1), and common arterial trunk (n=1)...
November 2017: Circulation. Cardiovascular Imaging
https://www.readbyqxmd.com/read/29141583/clinical-and-molecular-genetic-characterization-of-familial-mecp2-duplication-syndrome-in-a-chinese-family
#4
Xiaoyan Li, Hua Xie, Qian Chen, Xiongying Yu, Zhaoshi Yi, Erzhen Li, Ting Zhang, Jian Wang, Jianmin Zhong, Xiaoli Chen
BACKGROUND: Chromosomal duplication at the Xq28 region including the MECP2 gene, share consistent clinical phenotypes and a distinct facial phenotype known as MECP2 duplication syndrome. The typical clinical features include infantile hypotonia , mild dysmorphic features, a broad range of neurodevelopmental disorders, recurrent infections, and progressive spasticity. METHODS: This Chinese MECP2 duplication syndrome family includes six patients (five males and one female), and four asymptomatic female carriers...
November 15, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29141232/foxp1-promotes-embryonic-neural-stem-cell-differentiation-by-repressing-jagged1-expression
#5
Luca Braccioli, Stephin J Vervoort, Youri Adolfs, Cobi J Heijnen, Onur Basak, R Jeroen Pasterkamp, Cora H Nijboer, Paul J Coffer
Mutations in FOXP1 have been linked to neurodevelopmental disorders including intellectual disability and autism; however, the underlying molecular mechanisms remain ill-defined. Here, we demonstrate with RNA and chromatin immunoprecipitation sequencing that FOXP1 directly regulates genes controlling neurogenesis. We show that FOXP1 is expressed in embryonic neural stem cells (NSCs), and modulation of FOXP1 expression affects both neuron and astrocyte differentiation. Using a murine model of cortical development, FOXP1-knockdown in utero was found to reduce NSC differentiation and migration during corticogenesis...
November 14, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/29141024/quantifying-indices-of-short-and-long-range-white-matter-connectivity-at-each-cortical-vertex
#6
Maria Carmela Padula, Marie Schaer, Elisa Scariati, A Kadir Mutlu, Daniela Zöller, Maude Schneider, Stephan Eliez
Several neurodevelopmental diseases are characterized by impairments in cortical morphology along with altered white matter connectivity. However, the relationship between these two measures is not yet clear. In this study, we propose a novel methodology to compute and display metrics of white matter connectivity at each cortical point. After co-registering the extremities of the tractography streamlines with the cortical surface, we computed two measures of connectivity at each cortical vertex: the mean tracts' length, and the proportion of short- and long-range connections...
2017: PloS One
https://www.readbyqxmd.com/read/29138705/physiotherapy-and-rehabilitation-in-a-child-with-joubert-syndrome
#7
Özge İpek, Özge Akyolcu, Banu Bayar
Objective: Joubert syndrome (JS) is a rare autosomal recessive genetic disorder characterized by brain malformation, hypotonia, breathing abnormalities, ataxia, oculomotor apraxia, and developmental delay. The purpose of this study was to report the efficiency of the physiotherapy and rehabilitation program in a child with JS. Materials and Methods: Our case is a 19-month-old female child with mild clinical signs of JS. The pretreatment and posttreatment motor functioning level of the case was evaluated through the Gross Motor Function Measure (GMFM), whereas the independence level was evaluated through the Pediatric Functional Independence Measure (WeeFIM)...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29138362/infant-neuromotor-development-and-childhood-problem-behavior
#8
Fadila Serdarevic, Akhgar Ghassabian, Tamara van Batenburg-Eddes, Emin Tahirovic, Tonya White, Vincent W V Jaddoe, Frank C Verhulst, Henning Tiemeier
BACKGROUND: Research of adults and school-aged children suggest a neurodevelopmental basis for psychiatric disorders. We examined whether infant neuromotor development predicted internalizing and externalizing problems in young children. METHODS: In Generation R, a population-based cohort in the Netherlands (2002-2006), trained research assistants evaluated the neuromotor development of 4006 infants aged 2 to 5 months by using an adapted version of Touwen's Neurodevelopmental Examination (tone, responses, and senses and other observations)...
November 14, 2017: Pediatrics
https://www.readbyqxmd.com/read/29132814/incidence-of-child-and-adolescent-mental-disorders-in-children-aged-0-17-with-familial-high-risk-for-severe-mental-illness-a-danish-register-study
#9
Anne A E Thorup, Thomas Munk Laursen, Trine Munk-Olsen, Anne Ranning, Preben Bo Mortensen, Kerstin J Plessen, Merete Nordentoft
BACKGROUND: Offspring of parents with severe mental illness (SMI: schizophrenia, bipolar disorder or major depressive disorder) have an increased risk of developing mental disorder themselves. In childhood they may have neurodevelopmental delays, cognitive deficits and social adversities. We aimed to investigate if these individuals are more at risk of being diagnosed with a mental disorder during childhood/adolescence in a national sample. METHODS: By linking Danish registers we established a cohort consisting of all persons born to parents with SMI with those born to parents without SMI serving as a reference group...
November 10, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/29130632/dock3-related-neurodevelopmental-syndrome-biallelic-intragenic-deletion-of-dock3-in-a-boy-with-developmental-delay-and-hypotonia
#10
Aiko Iwata-Otsubo, Alyssa L Ritter, Brooke Weckselbatt, Nicole R Ryan, David Burgess, Laura K Conlin, Kosuke Izumi
Dedicator of cytokinesis (DOCK) family are evolutionary conserved guanine nucleotide exchange factors (GEFs) for the Rho GTPases, Rac, and Cdc42. DOCK3 functions as a GEF for Rac1, and plays an important role in promoting neurite and axonal growth by stimulating actin dynamics and microtubule assembly pathways in the central nervous system. Here we report a boy with developmental delay, hypotonia, and ataxia due to biallelic DOCK3 deletion. Chromosomal single nucleotide polymorphism (SNP) microarray analysis detected a 170 kb homozygous deletion including exons 6-12 of the DOCK3 gene at 3p21...
November 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29129319/modeling-the-interplay-between-neurons-and-astrocytes-in-autism-using-human-induced-pluripotent-stem-cells
#11
Fabiele Baldino Russo, Beatriz Camille Freitas, Graciela Conceição Pignatari, Isabella Rodrigues Fernandes, Jonathan Sebat, Alysson Renato Muotri, Patricia Cristina Baleeiro Beltrão-Braga
BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with unclear etiology and imprecise genetic causes. The main goal of this work was to investigate neuronal connectivity and the interplay between neurons and astrocytes from individuals with nonsyndromic ASD using induced pluripotent stem cells. METHODS: Induced pluripotent stem cells were derived from a clinically well-characterized cohort of three individuals with nonsyndromic ASD sharing common behaviors and three control subjects, two clones each...
October 3, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/29128849/genetic-strategies-to-tackle-neurological-diseases-in-fruit-flies
#12
REVIEW
Mümine Şentürk, Hugo J Bellen
Drosophila melanogaster is a genetic model organism that has contributed to the discovery of numerous genes whose human homologues are associated with diseases. The development of sophisticated genetic tools to manipulate its genome accelerates the discovery of the genetic basis of undiagnosed human diseases and the elucidation of molecular pathogenic events of known and novel diseases. Here, we discuss various approaches used in flies to assess the function of the fly homologues of disease-associated genes...
November 8, 2017: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/29128445/the-promise-of-induced-pluripotent-stem-cells-for-neurodevelopmental-disorders
#13
REVIEW
Katrin Linda, Carol Fiuza, Nael Nadif Kasri
A major challenge in clinical genetics and medicine is represented by genetically and phenotypically highly diverse neurodevelopmental disorders, like for example intellectual disability and autism. Intellectual disability is characterized by substantial limitations in cognitive function and adaptive behaviour. At the cellular level, this is reflected by deficits in synaptic structure and plasticity and therefore has been coined as a synaptic disorder or "synaptopathy". In this review, we summarize the findings from recent studies in which iPSCs have been used to model specific neurodevelopmental syndromes, including Fragile X syndrome, Rett syndrome, Williams-Beuren syndrome and Phelan-McDermid syndrome...
November 8, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/29128107/a-systematic-look-at-environmental-modulation-and-its-impact-in-brain-development
#14
REVIEW
Alessandro Sale
Several experimental procedures are currently used to investigate the impact of the environment on brain plasticity under physiological and pathological conditions. The available methodologies are aimed at obtaining global or specific reductions or intensifications of the stimuli, with initial standardization in animal models being paralleled by translational applications to humans. More procedures can be combined together or applied in series to obtain powerful experimental paradigms, and the choice of a given setting should take into account the specific genetic background, age, and phenotypic vulnerabilities of the target subjects...
November 8, 2017: Trends in Neurosciences
https://www.readbyqxmd.com/read/29127891/elevated-maternal-anxiety-in-the-nicu-predicts-worse-fine-motor-outcome-in-vlbw-infants
#15
Michelle M Greene, Beverly Rossman, Paula Meier, Kousiki Patra
AIM: The literature is sparse with respect to the impact of elevated maternal psychological distress in the neonatal intensive care unit (NICU) on later neurodevelopmental outcome in VLBW infants. The objective of this study is to examine the impact of elevated maternal distress, defined as elevated depression, anxiety and perinatal-specific post-traumatic stress, during the NICU hospitalization on VLBW infant ND outcome at 20months corrected age (CA). METHODS: This was a prospective study of 69 mothers and their VLBW infants recruited in 2011-2012...
November 8, 2017: Early Human Development
https://www.readbyqxmd.com/read/29126862/cortical-activity-in-fine-motor-tasks-in-children-with-developmental-coordination-disorder-a-preliminary-fnirs-study
#16
Priscila Caçola, Nancy Getchell, Dhivya Srinivasan, Georgios Alexandrakis, Hanli Liu
Developmental Coordination Disorder (DCD) is as a neurodevelopmental condition characterized by poor motor proficiency, which impacts academic performance and activities of daily living. Several studies have determined that children with DCD activate different regions of the brain when performing motor skills in comparison to typically developing (TD) children. However, none have used Functional Near-Infrared Spectroscopy (fNIRS) to explore cortical activation in this population. With that, the goal of this preliminary study was to investigate cortical activation using fNIRS in six children with DCD and six TD children between ages of 8 and 12 years...
November 7, 2017: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/29125977/windows-of-opportunity-timing-in-neurodevelopmental-disorders
#17
REVIEW
Alexandra Krol, Guoping Feng
Developmental processes disrupted in neurodevelopmental disorders occur rapidly and with temporal precision. During development, individual gene activity can dynamically engage different signaling networks; thus genetic mutations can lead to different functional changes at different times. Interpretation of phenotypes can be further complicated if initial functional changes trigger compensatory mechanisms. Examining genetic mouse models of neurodevelopmental disorders reveals cellular phenotypes that change over the course of development and exist long before behavioral deficits are assessed...
November 7, 2017: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/29125721/the-association-between-comorbid-autism-spectrum-disorders-and-antipsychotic-treatment-failure-in-early-onset-psychosis-a-historical-cohort-study-using-electronic-health-records
#18
Johnny M Downs, Suzannah Lechler, Harry Dean, Nicola Sears, Rashmi Patel, Hitesh Shetty, Emily Simonoff, Matthew Hotopf, Tamsin J Ford, Covadonga M Diaz-Caneja, Celso Arango, James H MacCabe, Richard D Hayes, Laura Pina-Camacho
OBJECTIVE: In a sample of children and adolescents with first-episode psychosis, we investigated whether multiple treatment failure (MTF, defined as the initiation of a third trial of novel antipsychotic due to nonadherence, adverse effects, or insufficient response) was associated with comorbid autism spectrum disorders. METHODS: Data were from the electronic health records of 638 children (51% male) aged from 10 to 17 years with first-episode psychosis (per ICD-10 criteria) from January 1, 2008, to November 1, 2014, referred to mental health services in South London, United Kingdom; data were extracted using the Clinical Record Interactive Search (CRIS) system...
November 7, 2017: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/29122693/vitamin-a-improves-the-symptoms-of-autism-spectrum-disorders-and-decreases-5-hydroxytryptamine-5-ht-a-pilot-study
#19
Min Guo, Jiang Zhu, Ting Yang, Xi Lai, Xiao Liu, Juan Liu, Jie Chen, Tingyu Li
Autism spectrum disorders (ASD) are complicated neurodevelopmental disorders. Many studies have demonstrated that children with autism have multiple nutritional deficiencies and increased serum 5-hydroxytryptamine (5-HT) levels. In our previous study, 77.9% of autistic children were found to have vitamin A deficiency, and the concentration of vitamin A was negatively associated with the CARS score. In the present study, we sought to test whether vitamin A supplementation could improve autistic symptoms and decrease serum 5-HT levels...
November 6, 2017: Brain Research Bulletin
https://www.readbyqxmd.com/read/29122040/video-modeling-for-the-development-of-personal-hygiene-skills-in-youth-with-autism-spectrum-disorder
#20
S Piccin, A Crippa, M Nobile, A Y Hardan, P Brambilla
Autism spectrum disorder (ASD) is a neurodevelopmental disorder mainly characterised by deficits in social communication as well as by narrow patterns of behaviour and interests (American Psychiatric Association, 2013), often accompanied by language, intellectual and sensory impairments. The severity of these impairments may lead to deficits in the development of daily living activities such as simple meal preparation and feeding, community skills (e.g. buying groceries), personal care (e.g. dressing) and personal hygiene skills (bathing, toileting, hand washing, teeth brushing) needed for independence...
November 10, 2017: Epidemiology and Psychiatric Sciences
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