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Neurodevelopmental disorders

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https://www.readbyqxmd.com/read/29792313/one-gene-many-endocrine-and-metabolic-syndromes-pten-opathies-and-precision-medicine
#1
Lamis Yehia, Charis Eng
An average of 10% of all cancers (range 1-40%) are caused by heritable mutations and over the years, have become powerful models for precision medicine practice. Furthermore, such cancer predisposition genes for seemingly rare syndromes have turned out to help explain mechanisms of sporadic carcinogenesis and often inform normal development. The tumor suppressor PTEN encodes a ubiquitously expressed phosphatase that counteracts the PI3K/AKT/mTOR cascade - one of the most critical growth-promoting signaling pathways...
May 23, 2018: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29792283/repurposing-available-drugs-for-neurodevelopmental-disorders-the-fragile-x-experience
#2
REVIEW
Michael R Tranfaglia, Clare Thibodeaux, Daniel J Mason, David Brown, Ian Roberts, Richard Smith, Tim Guilliams, Patricia Cogram
Many available drugs have been repurposed as treatments for neurodevelopmental disorders. In the specific case of fragile X syndrome, many clinical trials of available drugs have been conducted with the goal of disease modification. In some cases, detailed understanding of basic disease mechanisms has guided the choice of drugs for clinical trials, and several notable successes in fragile X clinical trials have led to common use of drugs such as minocycline in routine medical practice. Newer technologies like Disease-Gene Expression Matching (DGEM) may allow for more rapid identification of promising repurposing candidates...
May 4, 2018: Neuropharmacology
https://www.readbyqxmd.com/read/29791872/gene-expression-in-cord-blood-links-genetic-risk-for-neurodevelopmental-disorders-with-maternal-psychological-distress-and-adverse-childhood-outcomes
#3
Michael S Breen, Aliza P Wingo, Nastassja Koen, Kirsten A Donald, Mark Nicol, Heather J Zar, Kerry J Ressler, Joseph D Buxbaum, Dan J Stein
Prenatal exposure to maternal stress and depression has been identified as a risk factor for adverse behavioral and neurodevelopmental outcomes in early childhood. However, the molecular mechanisms through which maternal psychopathology shapes offspring development remain poorly understood. We applied transcriptome-wide screens to 149 umbilical cord blood samples from neonates born to mothers with posttraumatic stress disorder (PTSD; n=20), depression (n=31) and PTSD with comorbid depression (n=13), compared to carefully matched trauma exposed controls (n=23) and healthy mothers (n=62)...
May 20, 2018: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/29789464/role-of-mtor-complexes-in-neurogenesis
#4
REVIEW
Francesca LiCausi, Nathaniel W Hartman
Dysregulation of neural stem cells (NSCs) is associated with several neurodevelopmental disorders, including epilepsy and autism spectrum disorder. The mammalian target of rapamycin (mTOR) integrates the intracellular signals to control cell growth, nutrient metabolism, and protein translation. mTOR regulates many functions in the development of the brain, such as proliferation, differentiation, migration, and dendrite formation. In addition, mTOR is important in synaptic formation and plasticity. Abnormalities in mTOR activity is linked with severe deficits in nervous system development, including tumors, autism, and seizures...
May 22, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29789371/identification-of-new-risk-factors-for-rolandic-epilepsy-cnv-at-xp22-31-and-alterations-at-cholinergic-synapses
#5
Laura Addis, William Sproviero, Sanjeev V Thomas, Roberto H Caraballo, Stephen J Newhouse, Kumudini Gomez, Elaine Hughes, Maria Kinali, David McCormick, Siobhan Hannan, Silvia Cossu, Jacqueline Taylor, Cigdem I Akman, Steven M Wolf, David E Mandelbaum, Rajesh Gupta, Rick A van der Spek, Dario Pruna, Deb K Pal
BACKGROUND: Rolandic epilepsy (RE) is the most common genetic childhood epilepsy, consisting of focal, nocturnal seizures and frequent neurodevelopmental impairments in speech, language, literacy and attention. A complex genetic aetiology is presumed in most, with monogenic mutations in GRIN2A accounting for >5% of cases. OBJECTIVE: To identify rare, causal CNV in patients with RE. METHODS: We used high-density SNP arrays to analyse the presence of rare CNVs in 186 patients with RE from the UK, the USA, Sardinia, Argentina and Kerala, India...
May 22, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29789033/the-neurological-examination-adapted-for-neuropsychiatry
#6
Sheldon Benjamin, Margo D Lauterbach
The neuropsychiatric examination includes standard neurological and cognitive examination techniques with several additional observations and tasks designed to capture abnormalities common among patients with neuropsychiatric disorders or neurocognitive complaints. Although useful as a screening tool, a single standardized rating scale such as the Mini Mental State Examination (MMSE) or the Montreal Cognitive Assessment (MoCA) is insufficient to establish a neuropsychiatric diagnosis. Extra attention is paid to findings commonly seen in the setting of psychiatric disorders, dementias, movement disorders, or dysfunction of cortical or subcortical structures...
May 23, 2018: CNS Spectrums
https://www.readbyqxmd.com/read/29788202/quantitative-proteomics-reveals-neuronal-ubiquitination-of-rngo-ddi1-and-several-proteasomal-subunits-by-ube3a-accounting-for-the-complexity-of-angelman-syndrome
#7
Juanma Ramirez, Benoit Lectez, Nerea Osinalde, Monika Sivá, Nagore Elu, Kerman Aloria, Michaela Procházková, Coralia Perez, Jose Martínez-Hernández, Rosa Barrio, Klára Grantz Šašková, Jesus M Arizmendi, Ugo Mayor
Angelman syndrome is a complex neurodevelopmental disorder caused by the lack of function in the brain of a single gene, UBE3A. The E3 ligase coded by this gene is known to build K48-linked ubiquitin chains, a modification historically considered to target substrates for degradation by the proteasome. However, a change in protein abundance is not proof that a candidate UBE3A substrate is indeed ubiquitinated by UBE3A. We have here used an unbiased ubiquitin proteomics approach, the bioUb strategy, to identify 79 proteins that appear more ubiquitinated in the Drosophila photoreceptor cells when Ube3a is over-expressed...
June 1, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29788201/genetic-variants-in-autism-related-cntnap2-impair-axonal-growth-of-cortical-neurons
#8
Giorgia Canali, Marta Garcia, Bruno Hivert, Delphine Pinatel, Aline Goullancourt, Ksenia Oguievetskaia, Margaux Saint-Martin, Jean-Antoine Girault, Catherine Faivre-Sarrailh, Laurence Goutebroze
The CNTNAP2 gene, coding for the cell adhesion glycoprotein Caspr2, is thought to be one of the major susceptibility genes for autism spectrum disorder (ASD). A large number of rare heterozygous missense CNTNAP2 variants have been identified in ASD patients. However, most of them are inherited from an unaffected parent, questioning their clinical significance. In the present study, we evaluate their impact on neurodevelopmental functions of Caspr2 in a heterozygous genetic background. Performing cortical neuron cultures from mouse embryos, we demonstrate that Caspr2 plays a dose-dependent role in axon growth in vitro...
June 1, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29787855/dysbiosis-of-microbiome-and-probiotic-treatment-in-a-genetic-model-of-autism-spectrum-disorders
#9
Tabouy Laure, Getselter Dimitry, Ziv Oren, Karpuj Marcela, Tabouy Timothée, Maayouf Rasha, Werbner Nir, Ben-Amram Hila, Nuriel-Ohayon Meital, Koren Omry, Elliott Evan
Recent studies have determined that the microbiome has direct effects on behavior, and may be dysregulated in neurodevelopmental conditions. Considering that neurodevelopmental conditions, such as autism, have a strong genetic etiology, it is necessary to understand if genes associated with neurodevelopmental disorders, such as Shank3, can influence the gut microbiome, and if probiotics can be a therapeutic tool. In this study, we have identified dysregulation of several genera and species of bacteria in the gut and colon of both male and female Shank3 KO mice...
May 19, 2018: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/29786810/-epilepsy-and-comorbid-neurodevelopmental-disorders
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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