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https://www.readbyqxmd.com/read/28327575/analysis-of-exome-data-for-4293-trios-suggests-gpi-anchor-biogenesis-defects-are-a-rare-cause-of-developmental-disorders
#1
Alistair T Pagnamenta, Yoshiko Murakami, John M Taylor, Consuelo Anzilotti, Malcolm F Howard, Venessa Miller, Diana S Johnson, Shereen Tadros, Sahar Mansour, I Karen Temple, Rachel Firth, Elisabeth Rosser, Rachel E Harrison, Bronwen Kerr, Niko Popitsch, Taroh Kinoshita, Jenny C Taylor, Usha Kini
Over 150 different proteins attach to the plasma membrane using glycosylphosphatidylinositol (GPI) anchors. Mutations in 18 genes that encode components of GPI-anchor biogenesis result in a phenotypic spectrum that includes learning disability, epilepsy, microcephaly, congenital malformations and mild dysmorphic features. To determine the incidence of GPI-anchor defects, we analysed the exome data from 4293 parent-child trios recruited to the Deciphering Developmental Disorders (DDD) study. All probands recruited had a neurodevelopmental disorder...
March 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28326198/could-perinatal-asphyxia-induce-a-synaptopathy-new-highlights-from-an-experimental-model
#2
REVIEW
María Inés Herrera, Matilde Otero-Losada, Lucas Daniel Udovin, Carlos Kusnier, Rodolfo Kölliker-Frers, Wanderley de Souza, Francisco Capani
Birth asphyxia also termed perinatal asphyxia is an obstetric complication that strongly affects brain structure and function. Central nervous system is highly susceptible to oxidative damage caused by perinatal asphyxia while activation and maturity of the proper pathways are relevant to avoiding abnormal neural development. Perinatal asphyxia is associated with high morbimortality in term and preterm neonates. Although several studies have demonstrated a variety of biochemical and molecular pathways involved in perinatal asphyxia physiopathology, little is known about the synaptic alterations induced by perinatal asphyxia...
2017: Neural Plasticity
https://www.readbyqxmd.com/read/28320496/phelan-mcdermid-syndrome
#3
Gayle Leary Omansky, Elisa Abdulhayoglu, Bella Zhurbilo
Phelan-McDermid syndrome is a rare neurodevelopmental syndrome associated with severe intellectual disability, motor delay, and autistic traits. This article reviews a case of a complicated presentation of Phelan-McDermid syndrome and addresses etiology, diagnosis, and management.
March 1, 2017: Neonatal Network: NN
https://www.readbyqxmd.com/read/28316753/a-resting-eeg-study-of-neocortical-hyperexcitability-and-altered-functional-connectivity-in-fragile-x-syndrome
#4
Jun Wang, Lauren E Ethridge, Matthew W Mosconi, Stormi P White, Devin K Binder, Ernest V Pedapati, Craig A Erickson, Matthew J Byerly, John A Sweeney
BACKGROUND: Cortical hyperexcitability due to abnormal fast-spiking inhibitory interneuron function has been documented in fmr1 KO mice, a mouse model of the fragile X syndrome which is the most common single gene cause of autism and intellectual disability. METHODS: We collected resting state dense-array electroencephalography data from 21 fragile X syndrome (FXS) patients and 21 age-matched healthy participants. RESULTS: FXS patients exhibited greater gamma frequency band power, which was correlated with social and sensory processing difficulties...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28299159/autism-spectrum-disorder-in-a-community-based-sample-with-neurodevelopmental-problems-in-lagos-nigeria
#5
Yewande O Oshodi, Andrew T Olagunju, Motunrayo A Oyelohunnu, Elizabeth A Campbell, Charles S Umeh, Olatunji F Aina, Wellington Oyibo, Folusho E A Lesi, Joseph D Adeyemi
Autism Spectrum Disorder (ASD) is a globally prevalent neurodevelopmental disorder for which early diagnosis and intervention is the mainstay of management. In the African continent, limited data is available regarding the non-clinic based samples. Lack of information available to caregivers and inadequate skilled manpower often limit early detection and access to the few available though under resourced services in the community. Community based screening can be an important drive to create awareness and improve information dissemination regarding services available for those living with this disorder...
December 31, 2016: Journal of Public Health in Africa
https://www.readbyqxmd.com/read/28296079/magel2-knockout-mice-manifest-altered-social-phenotypes-and-a-deficit-in-preference-for-social-novelty
#6
Michael D Fountain, Huifang Tao, Chun-An Chen, Jiani Yin, Christian P Schaaf
MAGEL2 is one of five protein-coding, maternally imprinted, paternally expressed genes in the Prader-Willi syndrome-critical domain on chromosome 15q11-q13. Truncating pathogenic variants of MAGEL2 cause Schaaf-Yang syndrome (OMIM #615547), a neurodevelopmental disorder related to Prader-Willi syndrome. Affected individuals manifest a spectrum of neurocognitive and behavioral phenotypes, including intellectual disability and autism spectrum disorder (ASD). Magel2 knockout mice carrying a maternally inherited, imprinted wildtype allele and a paternally inherited Magel2-lacZ knock-in allele, which abolishes endogenous Magel2 gene function, exhibit several features reminiscent of the human Prader-Willi phenotypes, including neonatal growth retardation, excessive weight gain after weaning, and increased adiposity in adulthood...
March 13, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28293472/learning-and-memory-disabilities-in-iugr-babies-functional-and-molecular-analysis-in-a-rat-model
#7
Marta Camprubí Camprubí, Rafel Balada Caballé, Juan A Ortega Cano, Maria de Los Angeles Ortega de la Torre, Cristina Duran Fernández-Feijoo, Montserrat Girabent-Farrés, Josep Figueras-Aloy, Xavier Krauel, Soledad Alcántara
INTRODUCTION: 1Intrauterine growth restriction (IUGR) is the failure of the fetus to achieve its inherent growth potential, and it has frequently been associated with neurodevelopmental problems in childhood. Neurological disorders are mostly associated with IUGR babies with an abnormally high cephalization index (CI) and a brain sparing effect. However, a similar correlation has never been demonstrated in an animal model. The aim of this study was to determine the correlations between CI, functional deficits in learning and memory and alterations in synaptic proteins in a rat model of IUGR...
March 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28288694/mtor-inhibitors-in-the-pharmacologic-management-of-tuberous-sclerosis-complex-and-their-potential-role-in-other-rare-neurodevelopmental-disorders
#8
REVIEW
David N Franz, Jamie K Capal
Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder that affects multiple organ systems throughout the body. Dysregulation of the mammalian target of rapamycin (mTOR) pathway is implicated in the disease pathology, and evidence exists to support the use of mTOR inhibitors in treatment. The mTOR pathway has also been investigated as a potential treatment target for several other rare diseases. TSC research has highlighted the value of pursuing targeted therapies based on underlying molecular pathophysiology...
March 14, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28286008/compound-heterozygous-variants-in-robo1-cause-a-neurodevelopmental-disorder-with-absence-of-transverse-pontine-fibers-and-thinning-of-the-anterior-commissure-and-corpus-callosum
#9
Sonia F Calloni, Julie S Cohen, Avner Meoded, Jane Juusola, Fabio M Triulzi, Thierry A G M Huisman, Andrea Poretti, Ali Fatemi
BACKGROUND: Axonal guidance disorders are characterized by white matter tracts with an anomalous course, failure to cross the midline, or presence of anomalous white matter tracts. Diffusion tensor imaging (DTI) is a suitable noninvasive, in vivo neuroimaging tool to study axonal guidance disorders. We describe a novel disorder in a boy with compound heterozygous variants in the ROBO1 gene. PATIENT DESCRIPTION: The child was referred at age 13 months because of developmental delay...
February 2, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28285251/neurodevelopmental-disorders-in-young-violent-offenders-overlap-and-background-characteristics
#10
Eva Billstedt, Henrik Anckarsäter, Märta Wallinius, Björn Hofvander
Neurodevelopmental disorders (Attention-Deficit/Hyperactivity Disorder (ADHD), Autism Spectrum Disorder (ASD), tic disorder, intellectual disability (ID)), in prison populations have received increased attention but the focus has generally been on one single condition leaving out the global picture. This study assessed the prevalence and overlap of neurodevelopmental disorders (NDD) in a consecutive cohort (n=270) of young adult male offenders (age 18-25 years), sentenced for "hands-on" violent offences and serving prison time in Swedish prisons...
March 6, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28283832/genetic-and-phenotypic-dissection-of-1q43q44-microdeletion-syndrome-and-neurodevelopmental-phenotypes-associated-with-mutations-in-zbtb18-and-hnrnpu
#11
Christel Depienne, Caroline Nava, Boris Keren, Solveig Heide, Agnès Rastetter, Sandrine Passemard, Sandra Chantot-Bastaraud, Marie-Laure Moutard, Pankaj B Agrawal, Grace VanNoy, Joan M Stoler, David J Amor, Thierry Billette de Villemeur, Diane Doummar, Caroline Alby, Valérie Cormier-Daire, Catherine Garel, Pauline Marzin, Sophie Scheidecker, Anne de Saint-Martin, Edouard Hirsch, Christian Korff, Armand Bottani, Laurence Faivre, Alain Verloes, Christine Orzechowski, Lydie Burglen, Bruno Leheup, Joelle Roume, Joris Andrieux, Frenny Sheth, Chaitanya Datar, Michael J Parker, Laurent Pasquier, Sylvie Odent, Sophie Naudion, Marie-Ange Delrue, Cédric Le Caignec, Marie Vincent, Bertrand Isidor, Florence Renaldo, Fiona Stewart, Annick Toutain, Udo Koehler, Birgit Häckl, Celina von Stülpnagel, Gerhard Kluger, Rikke S Møller, Deb Pal, Tord Jonson, Maria Soller, Nienke E Verbeek, Mieke M van Haelst, Carolien de Kovel, Bobby Koeleman, Glen Monroe, Gijs van Haaften, Tania Attié-Bitach, Lucile Boutaud, Delphine Héron, Cyril Mignot
Subtelomeric 1q43q44 microdeletions cause a syndrome associating intellectual disability, microcephaly, seizures and anomalies of the corpus callosum. Despite several previous studies assessing genotype-phenotype correlations, the contribution of genes located in this region to the specific features of this syndrome remains uncertain. Among those, three genes, AKT3, HNRNPU and ZBTB18 are highly expressed in the brain and point mutations in these genes have been recently identified in children with neurodevelopmental phenotypes...
April 2017: Human Genetics
https://www.readbyqxmd.com/read/28275086/the-autism-epidemic-ethical-legal-and-social-issues-in-a-developmental-spectrum-disorder
#12
William D Graf, Geoffrey Miller, Leon G Epstein, Isabelle Rapin
Classic autism has gradually evolved into the concept of a larger "spectrum disorder." The rising prevalence of autism and autism spectrum disorder (autism/ASD) diagnoses can be largely attributed to broader diagnostic criteria, adoption of dimensional assessment strategies, increased awareness, linking of services to diagnosis, and the inclusion of milder neurodevelopmental differences bordering on normality. The spectrum disorder diagnosis raises numerous bioethical issues for individuals and society. Three groups of caregivers have important ethical, legal, and social obligations to individuals with autism/ASD: (1) families and advocates of individuals with autism/ASD; (2) health care and other professionals; and (3) governments...
March 8, 2017: Neurology
https://www.readbyqxmd.com/read/28271401/variants-of-the-eaat2-glutamate-transporter-gene-promoter-are-associated-with-cerebral-palsy-in-preterm-infants
#13
Shavanthi Rajatileka, David Odd, Matthew T Robinson, Alexandra C Spittle, Louis Dwomoh, Maggie Williams, David Harding, Miles Wagstaff, Marie Owen, Charlene Crosby, Jared Ching, Elek Molnár, Karen Luyt, Anikó Váradi
Preterm delivery is associated with neurodevelopmental impairment caused by environmental and genetic factors. Dysfunction of the excitatory amino acid transporter 2 (EAAT2) and the resultant impaired glutamate uptake can lead to neurological disorders. In this study, we investigated the role of single nucleotide polymorphisms (SNPs; g.-200C>A and g.-181A>C) in the EAAT2 promoter in susceptibility to brain injury and neurodisability in very preterm infants born at or before 32-week gestation. DNA isolated from newborns' dried blood spots were used for pyrosequencing to detect both SNPs...
March 7, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28262438/neonatal-diabetes-and-the-katp-channel-from-mutation-to-therapy
#14
REVIEW
Frances M Ashcroft, Michael C Puljung, Natascia Vedovato
Activating mutations in one of the two subunits of the ATP-sensitive potassium (KATP) channel cause neonatal diabetes (ND). This may be either transient or permanent and, in approximately 20% of patients, is associated with neurodevelopmental delay. In most patients, switching from insulin to oral sulfonylurea therapy improves glycemic control and ameliorates some of the neurological disabilities. Here, we review how KATP channel mutations lead to the varied clinical phenotype, how sulfonylureas exert their therapeutic effects, and why their efficacy varies with individual mutations...
March 2, 2017: Trends in Endocrinology and Metabolism: TEM
https://www.readbyqxmd.com/read/28260505/copy-number-variations-with-isolated-fetal-ventriculomegaly
#15
P Hu, Y Wang, R Sun, L Cao, X Chen, C Liu, C Luo, D Ma, W Wang, X Fu, W Shi, S Yi, K Zhang, H Liu, Z Xu
BACKGROUND: Copy Number Variations (CNVs) are an important genetic cause of a number of neurodevelopmental disorders (NDs). However, the association between CNVs and the development and prognosis of isolated fetal ventriculomegaly (IMV) is unclear. OBJECTIVES: To investigate possible associations between CNVs and the development of fetal IMV. METHODS: This retrospective study recruited 154 subjects with ultrasound-confirmed fetal IMV and 190 subjects in a control cohort who underwent a high-risk prenatal serum screening program...
March 3, 2017: Current Molecular Medicine
https://www.readbyqxmd.com/read/28256695/-attention-deficit-hyperactivity-disorder-from-a-neurodevelopmental-perspective
#16
A Fernandez-Jaen, S Lopez-Martin, J Albert, D Martin Fernandez-Mayoralas, A L Fernandez-Perrone, B Calleja-Perez, S Lopez-Arribas
INTRODUCTION: Neurodevelopmental disorders cover a heterogeneous group of disorders such as intellectual disability, autism spectrum disorders or specific learning difficulties, among others. The neurobiological and clinical variables seem to clearly justify the recent inclusion of attention deficit hyperactivity disorder (ADHD) as a neurodevelopmental disorder in the international classifications. DEVELOPMENT: Neurodevelopmental disorders are characterised by their dimensional nature and the distribution of the different symptoms in the population...
February 24, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28256686/-neuroplasticity-synaptogenesis-during-normal-development-and-its-implication-in-intellectual-disability
#17
M Martinez-Morga, S Martinez
Neuroplasticity is the biological capacity of the nervous system to modify its structure and functioning to adapt to both physiological and pathological variations in the environment. Its main physiological consequences are learning and memory, and its pathological outcome is neurological rehabilitation. The continuous change and initial fragility of the developing brain make the embryonic and foetal periods especially plastic (what is known as developmental neuroplasticity). The progressive reduction in plasticity, however, is never complete and the capacity to modify the brain circuits in response to new learning (adaptive neuroplasticity) or brain injuries (reactive neuroplasticity) remains throughout the individual's entire lifespan...
February 24, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28255957/epigenetic-mistakes-in-neurodevelopmental-disorders
#18
REVIEW
Giuseppina Mastrototaro, Mattia Zaghi, Alessandro Sessa
Epigenetics is the array of the chromatin modifications that customize in cell-, stage-, or condition-specific manner the information encloses in plain DNA molecules. Increasing evidences suggest the importance of epigenetic mechanisms for development and maintenance of central nervous system. In fact, a large number of newly discovered genetic causes of neurodevelopmental disorders such as intellectual disability, autism spectrum disorders, and many other syndromes are mutations within genes encoding for chromatin remodeling enzymes...
March 2, 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28254244/a-potential-life-threatening-reaction-to-glatiramer-acetate-in-rett-syndrome
#19
Andreea Nissenkorn, Mona Kidon, Bruria Ben-Zeev
BACKGROUND: Rett syndrome is an X-linked dominant neurodevelopmental disorder manifesting with severe intellectual disability in females caused by various mutations in the MECP2 gene. Brain-derived neurotrophic factor (BDNF) is one of the main proteins regulated by the MECP2 protein; its overexpression in the MeCP2 mouse model partially corrects the Rett phenotype. Pharmacologic manipulations that lead to increased BDNF in individuals with Rett syndrome are expected to have a positive effect on the disorder...
March 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28252661/predictive-value-of-amplitude-integrated-eeg-aeeg-after-rescue-hypothermic-neuroprotection-for-hypoxic-ischemic-encephalopathy-a-meta-analysis
#20
M Chandrasekaran, B Chaban, P Montaldo, S Thayyil
OBJECTIVE: Amplitude-integrated electroencephalography (aEEG) is a useful bedside tool in predicting the neurodevelopmental outcome after neonatal encephalopathy; however, the prognostic accuracy may be altered by rescue hypothermic neuroprotection. The objective of this study is to examine the prognostic accuracy of aEEG for predicting long-term neurodevelopmental outcomes in term newborn infants undergoing therapeutic hypothermia for neonatal encephalopathy. STUDY DESIGN: We examined all studies (Medline, Cumulative Index to Nursing and Allied Health Literature and the Cochrane Library; 2000 to 2014) comparing aEEG (6, 24, 48 or 72 h) in term encephalopathic babies undergoing therapeutic hypothermia, with neurodevelopmental outcome at 1 year or more...
March 2, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
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