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Neurodevelopmental

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https://www.readbyqxmd.com/read/28527272/-does-corticosteroid-treatment-during-the-pre-and-postnatal-periods-affect-the-neurodevelopmental-outcome-of-premature-newborns
#1
Marita Lardón, José Uberos, Eduardo Narbona
INTRODUCTION: Glucocorticoids, widely used in the perinatal period, may be associated with adverse neurodevelopmental effects. OBJECTIVES: To analyze neurodevelopmental outcomes in a cohort of very low birth weight newborns treated with antenatal and/or postnatal corticosteroids. MATERIALS AND METHODS: This was a prospective cohort study in which we included all very low birth weight babies admitted to the neonatal intensive care unit of a tertiary hospital between 2008 and 2013...
April 1, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28526761/a-retrospective-chart-review-of-the-features-of-pten-hamartoma-tumour-syndrome-in-children
#2
Emily Hansen-Kiss, Sarah Beinkampen, Brent Adler, Thomas Frazier, Thomas Prior, Steven Erdman, Charis Eng, Gail Herman
OBJECTIVE: It is recognised that 5% - 10 % of children with macrocephaly and autism spectrum disorder (ASD) and/or intellectual disability (ID) have a heterozygous pathogenic mutation in the PTEN tumour suppressor gene that is associated with PTEN hamartoma tumour syndrome. However, the clinical features and course in children with a pathogenic PTEN mutation are unclear and have not been well documented. STUDY OBJECTIVES: We undertook a retrospective chart review of children (< 18  years) with pathogenic PTEN mutations to ascertain clinical findings, clinical course and possible outcomes...
May 19, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28526506/investigating-the-causes-of-neurodevelopmental-deficits-in-congenital-heart-disease-through-multiple-gestations
#3
EDITORIAL
Ryan R Davies
No abstract text is available yet for this article.
March 19, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28525759/modeling-rett-syndrome-using-talen-edited-mecp2-mutant-cynomolgus-monkeys
#4
Yongchang Chen, Juehua Yu, Yuyu Niu, Dongdong Qin, Hailiang Liu, Gang Li, Yingzhou Hu, Jiaojian Wang, Yi Lu, Yu Kang, Yong Jiang, Kunhua Wu, Siguang Li, Jingkuan Wei, Jing He, Junbang Wang, Xiaojing Liu, Yuping Luo, Chenyang Si, Raoxian Bai, Kunshan Zhang, Jie Liu, Shaoyong Huang, Zhenzhen Chen, Shuang Wang, Xiaoying Chen, Xinhua Bao, Qingping Zhang, Fuxing Li, Rui Geng, Aibin Liang, Dinggang Shen, Tianzi Jiang, Xintian Hu, Yuanye Ma, Weizhi Ji, Yi Eve Sun
Gene-editing technologies have made it feasible to create nonhuman primate models for human genetic disorders. Here, we report detailed genotypes and phenotypes of TALEN-edited MECP2 mutant cynomolgus monkeys serving as a model for a neurodevelopmental disorder, Rett syndrome (RTT), which is caused by loss-of-function mutations in the human MECP2 gene. Male mutant monkeys were embryonic lethal, reiterating that RTT is a disease of females. Through a battery of behavioral analyses, including primate-unique eye-tracking tests, in combination with brain imaging via MRI, we found a series of physiological, behavioral, and structural abnormalities resembling clinical manifestations of RTT...
May 18, 2017: Cell
https://www.readbyqxmd.com/read/28523564/prenatal-and-early-postnatal-environmental-enrichment-reduce-acute-cell-death-and-prevent-neurodevelopment-and-memory-impairments-in-rats-submitted-to-neonatal-hypoxia-ischemia
#5
L E Durán-Carabali, D M Arcego, F K Odorcyk, L Reichert, J L Cordeiro, E F Sanches, L D Freitas, C Dalmaz, A Pagnussat, C A Netto
Environmental enrichment (EE) is an experimental strategy to attenuate the negative effects of different neurological conditions including neonatal hypoxia ischemia encephalopathy (HIE). The aim of the present study was to investigate the influence of prenatal and early postnatal EE in animals submitted to neonatal HIE model at postnatal day (PND) 3. Wistar rats were housed in EE or standard conditions (SC) during pregnancy and lactation periods. Pups of both sexes were assigned to one of four experimental groups, considering the early environmental conditions and the injury: SC-Sham, SC-HIE, EE-sham, and EE-HIE...
May 18, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28523541/epigenetics-of-autism-spectrum-disorder
#6
Michelle T Siu, Rosanna Weksberg
Autism spectrum disorder (ASD), one of the most common childhood neurodevelopmental disorders (NDDs), is diagnosed in 1 of every 68 children. ASD is incredibly heterogeneous both clinically and aetiologically. The etiopathogenesis of ASD is known to be complex, including genetic, environmental and epigenetic factors. Normal epigenetic marks modifiable by both genetics and environmental exposures can result in epigenetic alterations that disrupt the regulation of gene expression, negatively impacting biological pathways important for brain development...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28523539/the-role-of-noncoding-rnas-in-neurodevelopmental-disorders-the-case-of-rett-syndrome
#7
Aida Obiols-Guardia, Sònia Guil
Current technologies have demonstrated that only a small fraction of our genes encode for protein products. The vast majority of the human transcriptome corresponds to noncoding RNA (ncRNA) of different size, localization, and expression profile. Despite the fact that a biological function remains yet to be determined for most ncRNAs, growing evidence points to their crucial regulatory roles at all stages in gene expression regulation, including transcriptional and posttranscriptional control, so that proper cell homeostasis seems to depend largely on a variety of ncRNA-mediated regulatory networks...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28522662/apparent-diffusion-coefficient-value-changes-and-clinical-correlation-in-90-cases-of-cytomegalovirus-infected-fetuses-with-unremarkable-fetal-mri-results
#8
D Kotovich, J S B Guedalia, C Hoffmann, G Sze, A Eisenkraft, G Yaniv
BACKGROUND AND PURPOSE: Cytomegalovirus is the leading intrauterine infection. Fetal MR imaging is an accepted tool for fetal brain evaluation, yet it still lacks the ability to accurately predict the extent of the neurodevelopmental impairment, especially in fetal MR imaging scans with unremarkable findings. Our hypothesis was that intrauterine cytomegalovirus infection causes diffusional changes in fetal brains and that those changes may correlate with the severity of neurodevelopmental deficiencies...
May 18, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28522374/population-pharmacokinetics-of-nnz-2566-in-healthy-subjects
#9
Sean P Oosterholt, Joseph Horrigan, Nancy Jones, Larry Glass, Oscar Della Pasqua
NNZ-2566 is a novel, small molecule being developed as a treatment for cognitive impairment in different CNS conditions, including Rett and Fragile-X syndrome, both of which are associated with moderate to severe neurodevelopmental disorder. In current study we characterise the population pharmacokinetics of NNZ-2566 after administration of single and repeated ascending doses to healthy subjects. A meta-analytical approach was used to analyse pharmacokinetic data from 3 different studies, in which a total of 61 healthy subjects (median age 23years, range 19 to 38) were treated with NNZ-2566...
May 15, 2017: European Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28521525/babbling-in-children-with-neurodevelopmental-disability-and-validity-of-a-simplified-way-of-measuring-canonical-babbling-ratio
#10
Anna Nyman, Anette Lohmander
Babbling is an important precursor to speech, but has not yet been thoroughly investigated in children with neurodevelopmental disabilities. Canonical babbling ratio (CBR) is a commonly used but time-consuming measure for quantifying babbling. The aim of this study was twofold: to validate a simplified version of the CBR (CBR(UTTER)), and to use this measure to determine if early precursors to speech and language development could be detected in children with different neurodevelopmental disabilities. Two different data sets were used...
May 19, 2017: Clinical Linguistics & Phonetics
https://www.readbyqxmd.com/read/28521251/the-protective-effect-of-character-maturity-in-child-aggressive-antisocial-behavior
#11
Nóra Kerekes, Örjan Falk, Sven Brändström, Henrik Anckarsäter, Maria Råstam, Björn Hofvander
BACKGROUND: Childhood aggressive antisocial behavior (CD) is one of the strongest predictors of mental health problems and criminal behavior in adulthood. The aims of this study were to describe personality profiles in children with CD, and to determine the strength of association between defined neurodevelopmental symptoms, dimensions of character maturity and CD. METHODS: A sample of 1886 children with a close to equal distribution of age (9 or 12) and gender, enriched for neurodevelopmental and psychiatric problems were selected from the nationwide Child and Adolescent Twin Study in Sweden...
April 29, 2017: Comprehensive Psychiatry
https://www.readbyqxmd.com/read/28521112/prevalence-of-externalizing-disorders-and-autism-spectrum-disorder-among-children-with-fetal-alcohol-spectrum-disorder-systematic-review-and-meta-analysis
#12
Shannon Lange, Jürgen Rehm, Evdokia Anagnostou, Svetlana Popova
Due to their central nervous system impairments, children with Fetal Alcohol Spectrum Disorder (FASD) commonly exhibit externalizing behaviours such as hyperactivity, impulsivity, and/or delinquency. The purpose of the current study was to estimate the prevalence of neurodevelopmental disorders with prominent externalizing behaviours, namely Attention-Deficit Hyperactivity Disorder (ADHD), Conduct Disorder (CD), Oppositional Defiant Disorder (ODD), as well as Autism Spectrum Disorder (ASD) among children with FASD...
May 18, 2017: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/28521056/ethnic-minority-status-age-at-immigration-and-psychosis-risk-in-rural-environments-evidence-from-the-sepea-study
#13
James B Kirkbride, Yasir Hameed, Konstantinos Ioannidis, Gayatri Ankireddypalli, Carolyn M Crane, Mukhtar Nasir, Nikolett Kabacs, Antonio Metastasio, Oliver Jenkins, Ashkan Espandian, Styliani Spyridi, Danica Ralevic, Suneetha Siddabattuni, Ben Walden, Adewale Adeoye, Jesus Perez, Peter B Jones
Objective: Several ethnic minority groups experience elevated rates of first-episode psychosis (FEP), but most studies have been conducted in urban settings. We investigated whether incidence varied by ethnicity, generation status, and age-at-immigration in a diverse, mixed rural, and urban setting. Method: We identified 687 people, 16-35 years, with an ICD-10 diagnosis of FEP, presenting to Early Intervention Psychosis services in the East of England over 2 million person-years...
May 17, 2017: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/28518104/neurodevelopmental-reflex-testing-in-neonatal-rat-pups
#14
Antoinette T Nguyen, Edward A Armstrong, Jerome Y Yager
Neurodevelopmental reflex testing is commonly used in clinical practice to assess the maturation of the nervous system. Neurodevelopmental reflexes are also referred to as primitive reflexes. They are sensitive and consistent with later outcomes. Abnormal reflexes are described as an absence, persistence, reappearance, or latency of reflexes, which are predictive indices of infants that are at high risk for neurodevelopmental disorders. Animal models of neurodevelopmental disabilities, such as cerebral palsy, often display aberrant developmental reflexes, as would be observed in human infants...
April 24, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28515788/genomic-imprinting-does-not-reduce-the-dosage-of-ube3a-in-neurons
#15
Paul R Hillman, Sarah G B Christian, Ryan Doan, Noah D Cohen, Kranti Konganti, Kory Douglas, Xu Wang, Paul B Samollow, Scott V Dindot
BACKGROUND: The ubiquitin protein E3A ligase gene (UBE3A) gene is imprinted with maternal-specific expression in neurons and biallelically expressed in all other cell types. Both loss-of-function and gain-of-function mutations affecting the dosage of UBE3A are associated with several neurodevelopmental syndromes and psychological conditions, suggesting that UBE3A is dosage-sensitive in the brain. The observation that loss of imprinting increases the dosage of UBE3A in brain further suggests that inactivation of the paternal UBE3A allele evolved as a dosage-regulating mechanism...
2017: Epigenetics & Chromatin
https://www.readbyqxmd.com/read/28515557/dandy-walker-variant-with-schizophrenia-comorbidity-or-cerebellar-cognitive-affective-syndrome
#16
Pallavi Sinha, Jatin Tarwani, Pankaj Kumar, Amit Garg
Dandy-Walker complex (DWC) is a series of neurodevelopmental anomalies involving the posterior cranial fossa. The cerebellum has long been considered to be involved in motor coordination and balance. However, it has now been noted to play an important role in higher order cognitive, emotional, and behavioral functions. The concept of cerebellar cognitive affective syndrome, describing a coherent spectrum of cognitive and behavioral disturbances in adults following cerebellar damage has long been proposed. There have been reported cases of co-occurring psychiatric symptoms and DWC in literature, but the conclusive evidence for an association between the same remains lacking...
March 2017: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/28515470/a-novel-missense-mutation-in-the-hect-domain-of-nedd4l-identified-in-a-girl-with-periventricular-nodular-heterotopia-polymicrogyria-and-cleft-palate
#17
Koji Kato, Fuyuki Miya, Ikumi Hori, Daisuke Ieda, Kei Ohashi, Yutaka Negishi, Ayako Hattori, Nobuhiko Okamoto, Mitsuhiro Kato, Tatsuhiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Shinji Saitoh
We identified a novel de novo heterozygous missense mutation in the NEDD4L gene (NM_015277: c.2617G>A; p.Glu873Lys) through whole-exome sequencing in a 3-year-old girl showing severe global developmental delay, infantile spasms, cleft palate, periventricular nodular heterotopia and polymicrogyria. Mutations in the HECT domain of NEDD4L have been reported in patients with a neurodevelopmental disorder along with similar brain malformations. All patients reported with NEDD4L HECT domain mutations showed periventricular nodular heterotopia, and most had seizures, cortex anomalies, cleft palate and syndactyly...
May 18, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28513774/hippocampal-overexpression-of-down-syndrome-cell-adhesion-molecule-in-amyloid-precursor-protein-transgenic-mice
#18
Y L Jia, Z X Fu, B H Zhang, Y J Jia
Down syndrome cell adhesion molecule (DSCAM) is located within the Down syndrome critical region of chromosome 21. DSCAM is a broadly expressed neurodevelopmental protein involved in synaptogenesis, neurite outgrowth, and axon guidance. We previously demonstrated DSCAM overexpression in the cortex of amyloid precursor protein (APP) transgenic mice, suggesting possible regulatory interactions between APP and DSCAM. APP mice exhibit deficits in hippocampus-dependent learning and memory. In this preliminary study, we examined age-related changes in DSCAM expression within the hippocampus in 16 APP transgenic mice (1, 3, 6 and 12 months old)...
May 15, 2017: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
https://www.readbyqxmd.com/read/28513610/haploinsufficiency-of-znf462-is-associated-with-craniofacial-anomalies-corpus-callosum-dysgenesis-ptosis-and-developmental-delay
#19
Karin Weiss, Kristen Wigby, Madeleine Fannemel, Lindsay B Henderson, Natalie Beck, Neeti Ghali, D D D Study, Britt-Marie Anderlid, Johanna Lundin, Ada Hamosh, Marilyn C Jones, Sondhya Ghedia, Maximilian Muenke, Paul Kruszka
The introduction of whole-exome sequencing into the Pediatric Genetics clinic has increased the identification of novel genes associated with neurodevelopmental disorders and congenital anomalies. This agnostic approach has shed light on multiple proteins and pathways not previously known to be associated with disease. Here we report eight subjects from six families with predicted loss of function variants in ZNF462, a zinc-finger protein of unknown function. These individuals have overlapping phenotypes that include ptosis, metopic ridging, craniosynostosis, dysgenesis of the corpus callosum, and developmental delay...
May 17, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28513607/variants-in-ttc25-affect-autistic-trait-in-patients-with-autism-spectrum-disorder-and-general-population
#20
Dina Vojinovic, Nathalie Brison, Shahzad Ahmad, Ilse Noens, Irene Pappa, Lennart C Karssen, Henning Tiemeier, Cornelia M van Duijn, Hilde Peeters, Najaf Amin
Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental disorder with a complex genetic architecture. To identify genetic variants underlying ASD, we performed single-variant and gene-based genome-wide association studies using a dense genotyping array containing over 2.3 million single-nucleotide variants in a discovery sample of 160 families with at least one child affected with non-syndromic ASD using a binary (ASD yes/no) phenotype and a quantitative autistic trait. Replication of the top findings was performed in Psychiatric Genomics Consortium and Erasmus Rucphen Family (ERF) cohort study...
May 17, 2017: European Journal of Human Genetics: EJHG
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