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https://www.readbyqxmd.com/read/29786810/-epilepsy-and-comorbid-neurodevelopmental-disorders
#1
Viviann Nordin, Ingrid B Olsson, Torbjörn Tomson
In children and adults with epilepsy, it is important to be aware of and diagnose common comorbidities that may have a large impact on quality of life. Comorbid neurodevelopmental disorders include intellectual disability, autism, and attention deficit hyperactivity disorder (ADHD). Depression and anxiety are common findings, and also the risk of psychosis is increased. The medication used to treat these comorbidities is found to be effective with little risks of seizure exacerbation, i.e. medication with methylphenidate, selective serotonin reuptake inhibitors (SSRIs) and second generation neuroleptics...
May 22, 2018: Läkartidningen
https://www.readbyqxmd.com/read/29784234/cosleeping-and-behavioral-sleep-problems-in-school-aged-children-with-neurodevelopmental-and-mental-health-disorders
#2
María-Felisa Bastida-Pozuelo, Lisa J Meltzer, María-Montserrat Sánchez-Ortuño
The aim of this study was to explore the presence of sleep-related complaints and their relationship to cosleeping in a sample of 57 children with mental health disorders. Information about the practice of cosleeping was collected through an interview and behavioral sleep problems were evaluated with a subset of items from the Spanish version of the Pediatric Sleep Questionnaire (PSQ). Controlling for age, cosleepers scored higher on insomnia, daytime sleepiness and poor sleep scheduling, compared to solitary sleepers...
June 2018: Archives of Psychiatric Nursing
https://www.readbyqxmd.com/read/29784083/a-homozygous-loss-of-function-camk2a-mutation-causes-growth-delay-frequent-seizures-and-severe-intellectual-disability
#3
Poh Hui Chia, Franklin Lei Zhong, Shinsuke Niwa, Carine Bonnard, Kagistia Hana Utami, Ruizhu Zeng, Hane Lee, Ascia Eskin, Stanley F Nelson, William H Xie, Samah Al-Tawalbeh, Mohammad El-Khateeb, Mohammad Shboul, Mahmoud A Pouladi, Mohammed Al-Raqad, Bruno Reversade
Calcium/calmodulin-dependent protein kinase II (CAMK2) plays fundamental roles in synaptic plasticity that underlies learning and memory. Here, we describe a new recessive neurodevelopmental syndrome with global developmental delay, seizures and intellectual disability. Using linkage analysis and exome sequencing, we found that this disease maps to chromosome 5q31.1-q34 and is caused by a biallelic germline mutation in CAMK2A . The missense mutation, p.His477Tyr is located in the CAMK2A association domain that is critical for its function and localization...
May 22, 2018: ELife
https://www.readbyqxmd.com/read/29778739/antenatal-ultrasound-value-in-risk-calculation-for-autism-spectrum-disorder-a-systematic-review-to-support-future-research
#4
REVIEW
Francesca Fulceri, Andrea Guzzetta, Argyro Athanasiadou, Laura Iaconianni, Maria Luisa Scattoni
There is a growing research interest on the antenatal features of children with neurodevelopmental disorders. Indeed, it has been proved that the neurodevelopment is, at least partly, affected by processes occurring in fetal life and that the early neurodevelopmental disorders identification is essential to optimize long-term outcomes. This systematic review aims to summarize findings on antenatal ultrasound data, which are or might be considered early risk indexes of postnatal social impairments. We conducted systematic searches in Pubmed and PsychINFO databases to identify studies including fetal ultrasound measurements and postnatal neurodevelopmental outcome assessment...
May 17, 2018: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/29778428/status-dystonicus-due-to-missense-variant-in-arx-diagnosis-and-management
#5
Kathleen M Gorman, Heather Cary, Laura Gaffney, Eva Forman, Dympna Waldron, Fowzy Al-Delami, Bryan J Lynch, Mary D King, Nicholas M Allen
Movement disorders are increasingly identified in infantile encephalopathies due to single gene disorders (e.g. SCN2A, CDKL5, ARX). The associated movement disorder can be challenging to recognise and treat. We report a 2 year-old boy with a background history of Ohtahara syndrome due to a missense variant in ARX (the aristaless-related homeobox gene) who subsequently developed status dystonicus. ARX is a transcription factor that plays a critical role in cortical neuronal development and is associated with a range of important neurodevelopmental disorders depending on the site of the pathogenic variant...
May 3, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29777555/impact-of-nicu-oral-feeding-on-neuropsychomotor-outcomes-at-9-months-of-corrected-age-in-chinese-low-birth-weight-preterm-infants-a-retrospective-study
#6
Wenwen Ding, Lijin Zhao, Nan Sheng, Jiali Ma, Ying Zhang
AIMS AND OBJECTIVES: To examine the changes in neuropsychomotor development and investigate the effect of feeding progression in Neonatal Intensive Care Unit (NICU) on neuropsychomotor outcomes in low-birth-weight preterm infants within 9 months of corrected age. BACKGROUND: Low-birth-weight (LBW) preterm infants (<37 weeks of gestation and birth weight < 2500 g) are at a high risk for neuropsychomotor development delay. Therefore, exploring NICU practices related to neuropsychomotor development is important...
May 18, 2018: Journal of Clinical Nursing
https://www.readbyqxmd.com/read/29776328/recent-progress-and-considerations-for-aav-gene-therapies-targeting-the-central-nervous-system
#7
REVIEW
Erik Allen Lykken, Charles Shyng, Reginald James Edwards, Alejandra Rozenberg, Steven James Gray
BACKGROUND: Neurodevelopmental disorders, as a class of diseases, have been particularly difficult to treat even when the underlying cause(s), such as genetic alterations, are understood. What treatments do exist are generally not curative and instead seek to improve quality of life for affected individuals. The advent of gene therapy via gene replacement offers the potential for transformative therapies to slow or even stop disease progression for current patients and perhaps minimize or prevent the appearance of symptoms in future patients...
May 18, 2018: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29774207/overview-of-social-cognitive-dysfunctions-in-rare-developmental-syndromes-with-psychiatric-phenotype
#8
REVIEW
Aurore Morel, Elodie Peyroux, Arnaud Leleu, Emilie Favre, Nicolas Franck, Caroline Demily
Rare neurodevelopmental syndromes often present social cognitive deficits that may underlie difficulties in social interactions and increase the risk of psychosis or autism spectrum disorders. However, little is known regarding the specificities of social cognitive impairment across syndromes while it remains a major challenge for the care. Our review provides an overview of social cognitive dysfunctions in rare diseases associated with psychiatric symptoms (with a prevalence estimated between 1 in 1,200 and 1 in 25,000 live births: 22q11...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29773950/could-autism-be-associated-with-nutritional-status-in-the-palestinian-population-the-outcomes-of-the-palestinian-micronutrient-survey
#9
Mohammad Altamimi
Background: Autism spectrum disorder is a neurodevelopmental disorder. It is believed that the cause of autism is multifactorial, where genetic predispositions interact with environmental factors. In this context, micronutrients play a crucial role. Objective: To present evidence on current micronutrient status in Palestine and highlight its possible role in increasing problems of neurodevelopment disorders in general and autism in particular. Method: Analytical review of results...
2018: Nutrition and Metabolic Insights
https://www.readbyqxmd.com/read/29773754/a-critical-neurodevelopmental-role-for-l-type-voltage-gated-calcium-channels-in-neurite-extension-and-radial-migration
#10
Satoshi Kamijo, Yuichiro Ishii, Shin-Ichiro Horigane, Kanzo Suzuki, Masamichi Ohkura, Junichi Nakai, Hajime Fujii, Sayaka Takemoto-Kimura, Haruhiko Bito
In spite of many association studies linking gene polymorphisms and mutations of L-type Voltage-Gated Ca2+ Channels (VGCC) in neurodevelopmental disorders, such as autism and schizophrenia, specific L-type VGCC roles during brain development remain unclear. Yet, calcium signaling has been shown to be essential for neurodevelopmental processes such as sculpting of neurites, functional wiring and fine tuning of growing networks. To bridge this gap, we performed submembraneous calcium imaging using a membrane-tethered genetically-encoded calcium indicator (GECI) Lck-G-CaMP7...
May 17, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29773518/developmental-trajectories-of-brain-maturation-and-behavior-relevance-to-major-mental-illnesses
#11
REVIEW
Sedona Lockhart, Akira Sawa, Minae Niwa
Adverse events in childhood and adolescence, such as social neglect or drug abuse, are known to lead to behavioral changes in young adulthood. This is particularly true for the subset of people who are intrinsically more vulnerable to stressful conditions. Yet the underlying mechanisms for such developmental trajectory from early life insult to aberrant adult behavior remains elusive. Adolescence is a period of dynamic physiological, psychological, and behavioral changes, encompassing a distinct neurodevelopmental stage called the 'critical period'...
May 3, 2018: Journal of Pharmacological Sciences
https://www.readbyqxmd.com/read/29772261/maternal-immune-activation-with-staphylococcal-enterotoxin-a-produces-unique-behavioral-changes-in-c57bl-6-mouse-offspring
#12
Ruthy Glass, Sara Norton, Nicholas Fox, Alexander W Kusnecov
Stimulation of the immune system during pregnancy, known as maternal immune activation (MIA), can cause long-lasting neurobiological and behavioral changes in the offspring. This phenomenon has been implicated in the etiology of developmental psychiatric disorders, such as autism and schizophrenia. Much of this evidence is predicated on animal models using bacterial agents such as LPS and/or viral mimics such as Poly I:C, both of which act through toll-like receptors. However, fewer studies have examined the role of direct activation of maternal T-cells during pregnancy using microbial agents...
May 14, 2018: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/29771183/association-of-inattention-hyperactivity-and-hypersomnolence-in-two-clinic-based-adult-cohorts
#13
Régis Lopez, Jean-Arthur Micoulaud-Franchi, Laura Camodeca, Marie Gachet, Isabelle Jaussent, Yves Dauvilliers
OBJECTIVE: To assess the relationship between excessive daytime sleepiness (EDS), inattention, and hyperactivity/impulsivity in adults with ADHD and central hypersomnia. METHOD: Drug-free adult patients with ADHD ( n = 100) or hypersomnia ( n = 100) were evaluated using a structured clinical interview and self-report questionnaires on ADHD symptoms and EDS. RESULTS: In all, 61% of patients with hypersomnia had clinically significant ADHD symptoms with 25% having an ADHD diagnosis (with both childhood and adulthood ADHD symptoms) and 36% ADHD-like symptoms, without history of childhood ADHD...
May 1, 2018: Journal of Attention Disorders
https://www.readbyqxmd.com/read/29770459/identification-of-correlative-shifts-in-indices-of-brain-cholesterol-metabolism-in-the-c57bl6-mecp2-tm1-1bird-mouse-a-model-for-rett-syndrome
#14
Dieter Lütjohann, Adam M Lopez, Jen-Chieh Chuang, Anja Kerksiek, Stephen D Turley
Rett syndrome (RS) is a pervasive neurodevelopmental disorder resulting from loss-of-function mutations in the X-linked gene methyl-Cpg-binding protein 2 (MECP2). Using a well-defined model for RS, the C57BL6/Mecp2 tm1.1Bird mouse, we have previously found a moderate but persistently lower rate of cholesterol synthesis, measured in vivo, in the brains of Mecp2 -/y mice, starting from about the third week after birth. There was no genotypic difference in the total cholesterol concentration throughout the brain at any age...
May 17, 2018: Lipids
https://www.readbyqxmd.com/read/29770430/nr4a2-haploinsufficiency-is-associated-with-intellectual-disability-and-autism-spectrum-disorder
#15
J Lévy, S Grotto, C Mignot, C Dupont, A Delahaye, B Benzacken, B Keren, D Haye, J Xavier, M Heulin, E Charles, A Verloes, A Maruani, E Pipiras, A-C Tabet
NR4A2, a member of the nuclear receptor superfamily, is involved in modulation of target gene transcription, regulating several developmental processes such as regulation of cellular homeostasis, neuronal development, inflammation and carcinogenesis. 2q24.1 deletions are extremely rare and only one patient with a de novo deletion encompassing only NR4A2 gene was reported so far. We report three additional patients with a de novo deletion encompassing NR4A2: two patients have deletions encompassing only NR4A2 gene and one patient has a deletion including NR4A2 and the first exon of GPD2...
May 16, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29769330/activity-dependent-aberrations-in-gene-expression-and-alternative-splicing-in-a-mouse-model-of-rett-syndrome
#16
Sivan Osenberg, Ariel Karten, Jialin Sun, Jin Li, Shaun Charkowick, Christy A Felice, Mary Kritzer, Minh Vu Chuong Nguyen, Peng Yu, Nurit Ballas
Rett syndrome (RTT) is a severe neurodevelopmental disorder that affects about 1 in 10,000 female live births. The underlying cause of RTT is mutations in the X-linked gene, methyl-CpG-binding-protein-2 ( MECP2 ); however, the molecular mechanism by which these mutations mediate the RTT neuropathology remains enigmatic. Specifically, although MeCP2 is known to act as a transcriptional repressor, analyses of the RTT brain at steady-state conditions detected numerous differentially expressed genes, while the changes in transcript levels were mostly subtle...
May 16, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29767995/structure-activity-relationships-and-therapeutic-potentials-of-5-ht7-receptor-ligands-an-update
#17
Maria N Modica, Enza Lacivita, Sebastiano Intagliata, Loredana Salerno, Giuseppe Romeo, Valeria Pittala, Marcello Leopoldo
Serotonin 5-HT7 receptor (5-HT7R) has been the subject of intense research efforts because of its presence in brain areas such as hippocampus, hypothalamus, and cortex. Preclinical data link the 5-HT7R to a variety of central nervous system processes such as regulation of circadian rhythms, mood, cognitions, pain processing, and mechanisms of addiction. 5-HT7R blockade has antidepressant effects and may ameliorate cognitive deficits associated with schizophrenia. 5-HT7R has been recently shown to modulate neuronal morphology, excitability, and plasticity, thus contributing to shape brain networks during development and to remodel neuronal wiring in the mature brain...
May 16, 2018: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/29766042/bc-rna-mislocalization-in-the-fragile-x-premutation
#18
Ilham A Muslimov, Taesun Eom, Anna Iacoangeli, Shih-Chieh Chuang, Renate K Hukema, Rob Willemsen, Dimitre G Stefanov, Robert K S Wong, Henri Tiedge
Fragile X premutation disorder is caused by CGG triplet repeat expansions in the 5' untranslated region of FMR1 mRNA. The question of how expanded CGG repeats cause disease is a subject of continuing debate. Our work indicates that CGG-repeat structures compete with regulatory BC1 RNA for access to RNA transport factor hnRNP A2. As a result, BC1 RNA is mislocalized in vivo, as its synapto-dendritic presence is severely diminished in brains of CGG-repeat knock-in animals (a premutation mouse model). Lack of BC1 RNA is known to cause seizure activity and cognitive dysfunction...
March 2018: ENeuro
https://www.readbyqxmd.com/read/29765884/visual-evoked-potential-in-children-with-developmental-disorders-correlation-with-neurodevelopmental-outcomes
#19
JaYoung Kim, In Young Sung, Eun Jae Ko, Minji Jung
Objective: To investigate the neurodevelopmental outcomes in children with developmental disorder according to visual evoked potential (VEP) results. Methods: We retrospectively analyzed children who visited our Department of Pediatric Rehabilitation Medicine with a chief complaint of developmental disability from January 2001 to July 2015. Of the 549 medical records reviewed, 322 children younger than 42 months who underwent both Bayley Scales of Infant and Toddler Development second edition (BSID-II) and VEP studies were enrolled...
April 2018: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/29765770/persistent-6-oh-bde-47-exposure-impairs-functional-neuronal-maturation-and-alters-expression-of-neurodevelopmentally-relevant-chromatin-remodelers
#20
Robert G Poston, Carissa J Dunn, Pushpita Sarkar, Ramendra N Saha
Polybrominated diphenyl ethers (PBDEs) are a pervasive class of brominated flame retardants that are present in the environment at particularly high levels, especially in the United States. Their environmental stability, propensity for bioaccumulation, and known potential for neurotoxicity has evoked interest regarding their effects on the developing nervous system. Exposure to PBDEs has been strongly associated with neurodevelopmental disorders. However, the details of their mechanistic roles in such disorders are incompletely understood...
January 2018: Environmental Epigenetics
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