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https://www.readbyqxmd.com/read/28934529/traveling-slow-oscillations-during-sleep-a-marker-of-brain-connectivity-in-childhood
#1
Salome Kurth, Brady A Riedner, Douglas C Dean, Jonathan O'Muircheartaigh, Reto Huber, Oskar G Jenni, Sean C L Deoni, Monique K LeBourgeois
Slow oscillations, a defining characteristic of the nonrapid eye movement sleep electroencephalogram (EEG), proliferate across the scalp in highly reproducible patterns. In adults, the propagation of slow oscillations is a recognized fingerprint of brain connectivity and excitability. In this study, we (1) describe for the first time maturational features of sleep slow oscillation propagation in children (n = 23; 2-13 years) using high-density (hd) EEG and (2) examine associations between sleep slow oscillatory propagation characteristics (ie, distance, traveling speed, cortical involvement) and white matter myelin microstructure as measured with multicomponent Driven Equilibrium Single Pulse Observation of T1 and T2-magnetic resonance imaging (mcDESPOT-MRI)...
September 1, 2017: Sleep
https://www.readbyqxmd.com/read/28934391/homozygous-kidins220-loss-of-function-variants-in-fetuses-with-cerebral-ventriculomegaly-and-limb-contractures
#2
I-L Mero, H H Mørk, Y Sheng, A Blomhoff, G L Opheim, Aa Erichsen, M D Vigeland, K K Selmer
Heterozygous mutations in KIDINS220 were recently suggested a cause of spastic paraplegia, intellectual disability, nystagmus and obesity. All patients carried terminal nonsense de novo mutations that seemed to escape nonsense-mediated mRNA decay. The mechanism for pathogenicity is yet unexplained, as it seems that heterozygous loss-of-function variants of KIDINS220 are generally well tolerated. We present a consanguineous couple who experienced four pregnancy terminations due to repeated findings in the fetuses comprising enlarged cerebral ventricles and limb contractures...
October 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28934247/the-extent-of-intrauterine-growth-restriction-determines-the-severity-of-cerebral-injury-and-neurobehavioural-deficits-in-rodents
#3
Crystal A Ruff, Stuart D Faulkner, Prakasham Rumajogee, Stephanie Beldick, Warren Foltz, Jennifer Corrigan, Alfred Basilious, Shangjun Jiang, Shanojan Thiyagalingam, Jerome Y Yager, Michael G Fehlings
BACKGROUND: Cerebral Palsy (CP) is the most common physical pediatric neurodevelopmental disorder and spastic diplegic injury is its most frequent subtype. CP results in substantial neuromotor and cognitive impairments that have significant socioeconomic impact. Despite this, its underlying pathophysiological mechanisms and etiology remain incompletely understood. Furthermore, there is a need for clinically relevant injury models, which a) reflect the heterogeneity of the condition and b) can be used to evaluate new translational therapies...
2017: PloS One
https://www.readbyqxmd.com/read/28934193/oxidative-stress-prefrontal-cortex-hypomyelination-and-cognitive-symptoms-in-schizophrenia
#4
REVIEW
D A Maas, A Vallès, G J M Martens
Schizophrenia (SZ) is a neurodevelopmental disorder with a broad symptomatology, including cognitive symptoms that are thought to arise from the prefrontal cortex (PFC). The neurobiological aetiology of these symptoms remains elusive, yet both impaired redox control and PFC dysconnectivity have been recently implicated. PFC dysconnectivity has been linked to white matter, oligodendrocyte (OL) and myelin abnormalities in SZ patients. Myelin is produced by mature OLs, and OL precursor cells (OPCs) are exceptionally susceptible to oxidative stress...
July 18, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28933765/potential-role-of-microtubule-stabilizing-agents-in-neurodevelopmental-disorders
#5
REVIEW
Sara Anna Bonini, Andrea Mastinu, Giulia Ferrari-Toninelli, Maurizio Memo
Neurodevelopmental disorders (NDDs) are characterized by neuroanatomical abnormalities indicative of corticogenesis disturbances. At the basis of NDDs cortical abnormalities, the principal developmental processes involved are cellular proliferation, migration and differentiation. NDDs are also considered "synaptic disorders" since accumulating evidence suggests that NDDs are developmental brain misconnection syndromes characterized by altered connectivity in local circuits and between brain regions. Microtubules and microtubule-associated proteins play a fundamental role in the regulation of basic neurodevelopmental processes, such as neuronal polarization and migration, neuronal branching and synaptogenesis...
July 26, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28933030/phenotype-comparison-confirms-zmynd11-as-a-critical-gene-for-10p15-3-microdeletion-syndrome
#6
Birute Tumiene, Ž Čiuladaitė, E Preikšaitienė, R Mameniškienė, A Utkus, V Kučinskas
Proper epigenetic regulation processes are crucial in the normal development of the human brain. An ever-increasing group of neurodevelopmental disorders due to derangements of epigenetic regulation involve both microdeletion and monogenic syndromes. Some of these syndromes have overlapping clinical phenotypes due to haploinsufficiency-sensitive genes involved in microdeletions. It was shown recently that the ZMYND11 gene has important functions in epigenetic regulation as an unconventional transcription co-repressor of highly expressed genes, possibly acting in the repression of cryptic transcription from gene bodies...
September 21, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28931944/errant-gardeners-glial-cell-dependent-synaptic-pruning-and-neurodevelopmental-disorders
#7
REVIEW
Urte Neniskyte, Cornelius T Gross
The final stage of brain development is associated with the generation and maturation of neuronal synapses. However, the same period is also associated with a peak in synapse elimination - a process known as synaptic pruning - that has been proposed to be crucial for the maturation of remaining synaptic connections. Recent studies have pointed to a key role for glial cells in synaptic pruning in various parts of the nervous system and have identified a set of critical signalling pathways between glia and neurons...
September 21, 2017: Nature Reviews. Neuroscience
https://www.readbyqxmd.com/read/28931890/pathogenesis-of-lethal-aspiration-pneumonia-in-mecp2-null-mouse-model-for-rett-syndrome
#8
Hiroshi Kida, Tomoyuki Takahashi, Yuki Nakamura, Takashi Kinoshita, Munetsugu Hara, Masaki Okamoto, Satoko Okayama, Keiichiro Nakamura, Ken-Ichiro Kosai, Takayuki Taniwaki, Yushiro Yamashita, Toyojiro Matsuishi
Rett syndrome (RTT) is a neurodevelopmental disorder mainly caused by mutations in the gene encoding the transcriptional regulator Methyl-CpG-binding protein 2 (MeCP2), located on the X chromosome. Many RTT patients have breathing abnormalities, such as apnea and breathing irregularity, and respiratory infection is the most common cause of death in these individuals. Previous studies showed that MeCP2 is highly expressed in the lung, but its role in pulmonary function remains unknown. In this study, we found that MeCP2 deficiency affects pulmonary gene expression and structures...
September 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28931574/enhanced-nociception-in-angelman-syndrome-model-mice
#9
Eric S McCoy, Bonnie Taylor-Blake, Megumi Aita, Jeremy M Simon, Benjamin D Philpot, Mark J Zylka
Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by mutation or deletion of the maternal UBE3A allele. The maternal UBE3A allele is expressed in nearly all neurons of the brain and spinal cord, whereas the paternal UBE3A allele is repressed by an extremely long antisense transcript (UBE3A-ATS). Little is known about expression of UBE3A in the peripheral nervous system, where loss of maternal UBE3A might contribute to AS phenotypes. Here we sought to examine maternal and paternal Ube3a expression in dorsal root ganglia (DRG) neurons and to evaluate whether nociceptive responses were affected in AS model mice (global deletion of maternal Ube3a allele; Ube3a(m-/p+) )...
September 20, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28931434/long-term-outcome-of-autistic-spectrum-disorder-a-retrospective-case-study-in-a-southern-italian-region
#10
Francesca Felicia Operto, Federica Martino, Annalisa Rinaldi, Angelo Cerracchio, Giovanni Salvati, Mariano Orza, Claudia Lembo, Gianvito Panzarino, Claudia Di Paolantonio, Alberto Verrotti, Giovanni Farello, Giangennaro Coppola
BACKGROUND: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder, characterized by impaired social communication and restricted and repetitive behaviours, as well as associated features including intellectual disability and impaired sensorimotor function. Despite a growing interest in this devastating disorder for families and young parents, there are no certainties as regards its aetiology, although a significant genetic background is considered to be important. Since there is little information about the social adaptation and quality of life of patients with Autism Spectrum Disorder, we decided to study and evaluate the long-term outcome and quality of life in a sample of children, adolescent and young adults...
September 20, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28927958/defective-gabaergic-neurotransmission-in-the-nucleus-tractus-solitarius-in-mecp2-null-mice-a-model-of-rett-syndrome
#11
Chao-Yin Chen, Jacopo Di Lucente, Yen-Chu Lin, Cheng-Chang Lien, Michael A Rogawski, Izumi Maezawa, Lee-Way Jin
Rett syndrome (RTT) is a devastating neurodevelopmental disorder caused by loss-of-function mutations in the X-linked methyl-CpG binding protein 2 (Mecp2) gene. GABAergic dysfunction has been implicated contributing to the respiratory dysfunction, one major clinical feature of RTT. The nucleus tractus solitarius (NTS) is the first central site integrating respiratory sensory information that can change the nature of the reflex output. We hypothesized that deficiency in Mecp2 gene reduces GABAergic neurotransmission in the NTS...
September 16, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28927730/decreased-structural-connectivity-and-resting-state-brain-activity-in-the-lateral-occipital-cortex-is-associated-with-social-communication-deficits-in-boys-with-autism-spectrum-disorder
#12
REVIEW
Minyoung Jung, Yiheng Tu, Courtney Amanda Lang, Ana Ortiz, Joel Park, Kristen Jorgenson, Xue-Jun Kong, Jian Kong
Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder characterized by atypical social communication and repetitive behaviors. In this study, we applied a multimodal approach to investigate brain structural connectivity, resting state activity, and surface area and their associations with the core symptoms of ASD. Data from forty boys with ASD (mean age, 11.5 years; age range, 5.5-19.5) and forty boys with typical development (TD) (mean age, 12.3; age range, 5.8-19.7) were extracted from the Autism Brain Imaging Data Exchange II (ABIDE II) for data analysis...
September 16, 2017: NeuroImage
https://www.readbyqxmd.com/read/28925810/ube3a-mediated-regulation-of-imprinted-genes-and-epigenome-wide-marks-in-human-neurons
#13
S Jesse Lopez, Keith Dunaway, M Saharul Islam, Charles Mordaunt, Annie Vogel Ciernia, Makiko Meguro-Horike, Shin-Ichi Horike, David J Segal, Janine LaSalle
The dysregulation of genes in neurodevelopmental disorders that lead to social and cognitive phenotypes is a complex, multilayered process involving both genetics and epigenetics. Parent-of-origin effects of deletion and duplication of the 15q11-q13 locus leading to Angelman, Prader-Willi, and Dup15q syndromes are due to imprinted genes, including UBE3A, which is maternally expressed exclusively in neurons. UBE3A encodes a ubiquitin E3 ligase protein with multiple downstream targets, including RING1B, which in turn monoubiquitinates histone variant H2A...
September 19, 2017: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/28925578/combined-fetal-inflammation-and-postnatal-hypoxia-causes-myelin-deficits-and-autism-like-behavior-in-a-rat-model-of-diffuse-white-matter-injury
#14
Erik van Tilborg, E J Marijke Achterberg, Caren M van Kammen, Annette van der Toorn, Floris Groenendaal, Rick M Dijkhuizen, Cobi J Heijnen, Louk J M J Vanderschuren, Manon N J L Benders, Cora H A Nijboer
Diffuse white matter injury (WMI) is a serious problem in extremely preterm infants, and is associated with adverse neurodevelopmental outcome, including cognitive impairments and an increased risk of autism-spectrum disorders. Important risk factors include fetal or perinatal inflammatory insults and fluctuating cerebral oxygenation. However, the exact mechanisms underlying diffuse WMI are not fully understood and no treatment options are currently available. The use of clinically relevant animal models is crucial to advance knowledge on the pathophysiology of diffuse WMI, allowing the definition of novel therapeutic targets...
September 19, 2017: Glia
https://www.readbyqxmd.com/read/28924256/neurodevelopmental-disorders-a-transcription-targeting-target
#15
Natasha Bray
No abstract text is available yet for this article.
September 19, 2017: Nature Reviews. Neuroscience
https://www.readbyqxmd.com/read/28924181/common-and-dissociable-regional-cerebral-blood-flow-differences-associate-with-dimensions-of-psychopathology-across-categorical-diagnoses
#16
A N Kaczkurkin, T M Moore, M E Calkins, R Ciric, J A Detre, M A Elliott, E B Foa, A Garcia de la Garza, D R Roalf, A Rosen, K Ruparel, R T Shinohara, C H Xia, D H Wolf, R E Gur, R C Gur, T D Satterthwaite
The high comorbidity among neuropsychiatric disorders suggests a possible common neurobiological phenotype. Resting-state regional cerebral blood flow (CBF) can be measured noninvasively with magnetic resonance imaging (MRI) and abnormalities in regional CBF are present in many neuropsychiatric disorders. Regional CBF may also provide a useful biological marker across different types of psychopathology. To investigate CBF changes common across psychiatric disorders, we capitalized upon a sample of 1042 youths (ages 11-23 years) who completed cross-sectional imaging as part of the Philadelphia Neurodevelopmental Cohort...
September 19, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28923376/visuo-spatial-construction-trajectories-in-fragile-x-syndrome-fxs-and-autism-spectrum-disorders-asd-evidence-of-cognitive-heterogeneity-within-neurodevelopmental-conditions
#17
Carrie J Ballantyne, María Núñez, Kallia Manoussaki
BACKGROUND/AIMS: There have been discrepancies reported in visuo-spatial construction ability in children with Autism Spectrum Disorders (ASD), fragile X Syndrome (FXS) and those with a comorbid diagnosis of FXS and ASD (AFXS). This study aimed to provide a better understanding of the visuo-spatial processing styles in these heterogeneous neurodevelopmental disorders. METHODS AND PROCEDURE: Navon-type tasks were used to assess visuo-spatial construction ability across 5 groups of children: typically developing, FXS, AFXS, ASD children who scored low-moderate (HFA) and ASD children that scored severe (LFA) on the Childhood Autism Rating Scale (CARS)...
September 15, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28923014/scn8a-mutations-in-chinese-patients-with-early-onset-epileptic-encephalopathy-and-benign-infantile-seizures
#18
Jiaping Wang, Hua Gao, Xinhua Bao, Qingping Zhang, Jiarui Li, Liping Wei, Xiru Wu, Yan Chen, Shujie Yu
BACKGROUND: SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. This study aimed to broaden the phenotypic-spectrum of disease related with SCN8A mutations. METHODS: To identify the pathogenic gene of a Chinese family, in which six members suffered from epilepsy, whole-exome sequencing was performed. In addition, target next-generation sequencing (NGS) was performed on 178 sporadic patients, who had epilepsy of unknown etiology within 6 months after birth...
September 18, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28922857/what-can-cortical-development-in-attention-deficit-hyperactivity-disorder-teach-us-about-the-early-developmental-mechanisms-involved
#19
Sara Ambrosino, Patrick de Zeeuw, Lara Marise Wierenga, Sarai van Dijk, Sarah Durston
Studies of Attention-Deficit/Hyperactivity Disorder (ADHD) have shown developmental changes in the cortical mantle. Different dimensions of cortical morphology, such as surface area and thickness, relate to different neurodevelopmental mechanisms. As such, studying multiple dimensions may inform us about the developmental origins of ADHD. Furthermore, results from existing longitudinal samples await replication. Therefore, we conducted a longitudinal study of multiple cortical dimensions in a sizable, independent ADHD sample...
September 1, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28922833/the-knockout-of-synapsin-ii-in-mice-impairs-social-behavior-and-functional-connectivity-generating-an-asd-like-phenotype
#20
Caterina Michetti, Angela Caruso, Marco Pagani, Mara Sabbioni, Lucian Medrihan, Gergely David, Alberto Galbusera, Monica Morini, Alessandro Gozzi, Fabio Benfenati, Maria Luisa Scattoni
Autism spectrum disorders (ASD) and epilepsy are neurodevelopmental conditions that appear with high rate of co-occurrence, suggesting the possibility of a common genetic basis. Mutations in Synapsin (SYN) genes, particularly SYN1 and SYN2, have been recently associated with ASD and epilepsy in humans. Accordingly, mice lacking Syn1 or Syn2, but not Syn3, experience epileptic seizures and display autistic-like traits that precede the onset of seizures. Here, we analyzed social behavior and ultrasonic vocalizations emitted in 2 social contexts by SynI, SynII, or SynIII mutants and show that SynII mutants display the most severe ASD-like phenotype...
October 1, 2017: Cerebral Cortex
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