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https://www.readbyqxmd.com/read/29775848/long-term-outcome-in-children-with-neonatal-seizures-a-tertiary-center-experience-in-cohort-of-168-patients
#1
Biljana Vucetic Tadic, Ruzica Kravljanac, Vlada Sretenovic, Vladislav Vukomanovic
PURPOSE: The purpose of this study was to evaluate long-term outcome and assess predictors of prognosis in children with neonatal seizures (NS). METHOD: This retrospective study includes children with NS treated at our Institute from January the 1st 2005 until December the 31st 2015. The data were collected from medical charts and the electroencephalogram (EEG) database at the Institute. The predictive value was evaluated for following parameters: (1) characteristics of the patients, such as gender, gestational age, birth body weight, Apgar score, artificial ventilation; (2) etiology; (3) characteristics of seizures such as type, time of onset, resistance to treatment; and (4) EEG background activity and paroxysmal discharges...
May 15, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29775702/abnormal-sleep-architecture-and-hippocampal-circuit-dysfunction-in-a-mouse-model-of-fragile-x-syndrome
#2
Christine E Boone, Heydar Davoudi, Jon B Harrold, David J Foster
Fragile X syndrome (FXS) is the most common heritable cause of intellectual disability and single-gene cause of autism spectrum disorder. The Fmr1 null mouse models much of the human disease including hyperarousal, sensory hypersensitivity, seizure activity, and hippocampus-dependent cognitive impairment. Sleep architecture is disorganized in FXS patients, but has not been examined in Fmr1 knockout (Fmr1-KO) mice. Hippocampal neural activity during sleep, which is implicated in memory processing, also remains uninvestigated in Fmr1-KO mice...
May 15, 2018: Neuroscience
https://www.readbyqxmd.com/read/29774525/teaching-social-perception-skills-to-adolescents-with-autism-and-intellectual-disabilities-using-video-based-group-instruction
#3
Tiffany A Stauch, Joshua B Plavnick, Sudha Sankar, Annie C Gallagher
Few interventions focus on teaching social skills to adolescents with autism spectrum disorder (ASD) and intellectual disabilities (ID) that are consistently used during interactions with peers ( Carter et al., 2014). The present study evaluated the effects of video-based group instruction (VGI) on the acquisition of social perception skills of five adolescents with ASD or ID in a public school setting. Social perception involves observing affective behaviors of others, discriminating relevant environmental stimuli, and differentially reinforcing the affective behavior of another person...
May 17, 2018: Journal of Applied Behavior Analysis
https://www.readbyqxmd.com/read/29773611/charlie-gard-and-the-weight-of-parental-rights-to-seek-experimental-treatment
#4
Giles Birchley
The case of Charlie Gard, an infant with a genetic illness whose parents sought experimental treatment in the USA, brought important debates about the moral status of parents and children to the public eye. After setting out the facts of the case, this article considers some of these debates through the lens of parental rights. Parental rights are most commonly based on the promotion of a child's welfare; however, in Charlie's case, promotion of Charlie's welfare cannot explain every fact of the case. Indeed, some seem most logically to extend from intrinsic parental rights, that is, parental rights that exist independent of welfare promotion...
May 17, 2018: Journal of Medical Ethics
https://www.readbyqxmd.com/read/29773528/a-digital-app-to-aid-detection-monitoring-and-management-of-dyslexia-in-young-children-dimmand-protocol-for-a-digital-health-and-education-solution
#5
Mariam R Sood, Annet Toornstra, Martin I Sereno, Mark Boland, Daniele Filaretti, Anuj Sood
BACKGROUND: Dyslexia, a specific learning difficulty and a disability as defined in the Equality Act 2010, is a lifelong condition that affects a child from the start of education. Dyslexia is characterized by difficulties in language processing (reading, spelling, and writing) which do not correspond with the child's general intellectual abilities. Although dyslexia cannot be cured, there is a consensus that interventions are more effective and have greater impact the earlier they are administered...
May 17, 2018: JMIR Research Protocols
https://www.readbyqxmd.com/read/29773210/cognitive-and-behavioral-effects-of-obstructive-sleep-apnea-syndrome-in-children-a-systematic-literature-review
#6
REVIEW
Thiago da Silva Gusmão Cardoso, Sabine Pompéia, Mônica Carolina Miranda
Obstructive sleep apnea syndrome (OSA) is a common respiratory sleep disorder in children that is believed to adversely affect both quality of life and cognition. The purpose of the present systematic review was to obtain evidence of the impact of OSA on children's cognitive/behavioral abilities from primary studies published in MEDLINE/PubMed, LILACS, SciELO, ISI Web of Science, and PsycINFO databases from 2002 to 2016. Of the 649 articles found, only 34 met the eligibility criteria: studies that evaluated cognition, behavior, and/or academic achievement of children meeting clinical criteria for OSA to compare their data to those of healthy controls or normative data, provided that the samples did not present conditions that might affect cognition/behavior irrespective of OSA...
June 2018: Sleep Medicine
https://www.readbyqxmd.com/read/29772935/the-effects-of-literacy-interventions-on-single-word-reading-for-individuals-who-use-aided-aac-a-systematic-review
#7
Kelsey Mandak, Janice Light, Susannah Boyle
The purpose of this systematic review was to investigate the effects of instruction on single-word reading of individuals who use aided augmentative and alternative communication (AAC). A systematic search identified nine single-case experimental design studies that involved 24 individuals who used aided AAC. Overall, the evidence indicated that instruction had positive effects on reading at the single-word level for individuals across ages and diagnostic categories (i.e., autism spectrum disorder (ASD), cerebral palsy (CP), Down syndrome, and intellectual disability)...
May 18, 2018: Augmentative and Alternative Communication: AAC
https://www.readbyqxmd.com/read/29772390/pathobiology-of-christianson-syndrome-linking-disrupted-endosomal-lysosomal-function-with-intellectual-disability-and-sensory-impairments
#8
Mallory Kerner-Rossi, Maria Gulinello, Steven Walkley, Kostantin Dobrenis
Christianson syndrome (CS) is a recently described rare neurogenetic disorder presenting early in life with a broad range of neurological symptoms, including severe intellectual disability with nonverbal status, hyperactivity, epilepsy, and progressive ataxia due to cerebellar atrophy. CS is due to loss-of-function mutations in SLC9A6, encoding NHE6, a sodium-hydrogen exchanger involved in the regulation of early endosomal pH. Here we review what is currently known about the neuropathogenesis of CS, based on insights from experimental models, which to date have focused on mechanisms that affect the CNS, specifically the brain...
May 14, 2018: Neurobiology of Learning and Memory
https://www.readbyqxmd.com/read/29770442/current-concepts-in-the-neuropathogenesis-of-mucolipidosis-type-iv
#9
REVIEW
Lauren C Boudewyn, Steven U Walkley
Mucolipidosis type IV (MLIV) is an autosomal recessive, lysosomal storage disorder causing progressively severe intellectual disability, motor and speech deficits, retinal degeneration often culminating in blindness, and systemic disease causing a shortened lifespan. MLIV results from mutations in the gene MCOLN1 encoding the transient receptor potential channel mucolipin-1. It is an ultra-rare disease and is currently known to affect just over 100 diagnosed individuals. The last decade has provided a wealth of research focused on understanding the role of the enigmatic mucolipin-1 protein in cell and brain function and how its absence causes disease...
May 16, 2018: Journal of Neurochemistry
https://www.readbyqxmd.com/read/29770430/nr4a2-haploinsufficiency-is-associated-with-intellectual-disability-and-autism-spectrum-disorder
#10
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/29769320/o-glcnac-transferase-missense-mutations-linked-to-x-linked-intellectual-disability-deregulate-genes-involved-in-cell-fate-determination-and-signaling
#11
Nithya Selvan, Stephan George, Fatema J Serajee, Marie Shaw, Lynne Hobson, Vera M Kalscheuer, Nripesh Prasad, Shawn E Levy, Juliet Taylor, Salim Afitmos, Charles E Schwartz, Ahm M Huq, Jozef Gecz, Lance Wells
It is estimated that ~1% of the world's population has intellectual disability, with males affected more often than females. OGT is an X-linked gene encoding for the enzyme O-GlcNAc transferase (OGT), which carries out the reversible addition of N-Acetylglucosamine (GlcNAc) to Ser/Thr residues of its intracellular substrates. Three missense mutations in the tetratricopeptide (TPR) repeats of OGT have recently been reported to cause X-linked Intellectual Disability (XLID). Here we report the discovery of two additional novel missense mutations (c...
May 16, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29768996/a-systematic-review-on-donepezil-based-derivatives-as-potential-cholinesterase-inhibitors-for-alzheimer-s-disease
#12
Jan Korabecny, Katarina Spilovska, Eva Mezeiova, Ondrej Benek, Radomir Juza, Daniel Kaping, Ondrej Soukup
Alzheimer's disease (AD) is a multifactorial progressive neurodegenerative disorder characterized by memory loss, disorientation, and gradual deterioration of intellectual capacity. Its etiology has not been elucidated yet. To date, only one therapeutic approach has been approved for the treatment of AD. The pharmacotherapy of AD has relied on non-competitive N-methyl-D-aspartate (NMDA) receptor antagonist - memantine, and acetylcholinesterase (AChE) inhibitors (AChEIs) - tacrine, donepezil, rivastigmine and galantamine...
May 16, 2018: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/29768408/a-homozygous-kat2b-variant-modulates-the-clinical-phenotype-of-add3-deficiency-in-humans-and-flies
#13
Sara Gonçalves, Julie Patat, Maria Clara Guida, Noelle Lachaussée, Christelle Arrondel, Martin Helmstädter, Olivia Boyer, Olivier Gribouval, Marie-Claire Gubler, Geraldine Mollet, Marlène Rio, Marina Charbit, Christine Bole-Feysot, Patrick Nitschke, Tobias B Huber, Patricia G Wheeler, Devon Haynes, Jane Juusola, Thierry Billette de Villemeur, Caroline Nava, Alexandra Afenjar, Boris Keren, Rolf Bodmer, Corinne Antignac, Matias Simons
Recent evidence suggests that the presence of more than one pathogenic mutation in a single patient is more common than previously anticipated. One of the challenges hereby is to dissect the contribution of each gene mutation, for which animal models such as Drosophila can provide a valuable aid. Here, we identified three families with mutations in ADD3, encoding for adducin-γ, with intellectual disability, microcephaly, cataracts and skeletal defects. In one of the families with additional cardiomyopathy and steroid-resistant nephrotic syndrome (SRNS), we found a homozygous variant in KAT2B, encoding the lysine acetyltransferase 2B, with impact on KAT2B protein levels in patient fibroblasts, suggesting that this second mutation might contribute to the increased disease spectrum...
May 16, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29766692/the-influence-of-preschool-children%C3%A2-s-diets-on-the-risk-of-lifestyle-diseases-a-pilot-study
#14
Małgorzata Kostecka
Background: A healthy diet in early life not only contributes to physical and intellectual development, but it can also reduce the risk of disease in adulthood. There is growing evidence to indicate that childhood diets are highly correlated with health in adult years. Eating habits formed in childhood persist in later life. Objective: The objective of this study was to evaluate the diets of preschool children aged 3 to 6 years and to identify statistical correlations between dietary factors and the risk of lifestyle diseases...
2018: Roczniki Państwowego Zakładu Higieny
https://www.readbyqxmd.com/read/29766482/-fragile-x-syndrome-new-therapeutic-strategies
#15
S Zeidler, B Dierckx, K Lubbers, A M van Eeghen, C R Lincke, J A Kievit, R Willemsen, A Rietman
Fragile X syndrome (fxs) is the most common hereditary cause of intellectual disability and autism spectrum disorders. Targeted treatment is currently lacking. In the past decades an enormous amount of knowledge has been obtained concerning the involved molecular pathways, introducing potential targets for disease modifying therapy.<br/> AIM: To present an overview of the development of targeted treatment for fxs.<br/> METHOD: Several important publications were collected and indexed.<br/> RESULTS: While preclinical animal model studies with targeted interventions are promising, the translation to the clinic has been disappointing...
2018: Tijdschrift Voor Psychiatrie
https://www.readbyqxmd.com/read/29765220/children-with-autism-spectrum-disorders-and-selective-mutism
#16
Hanna Steffenburg, Suzanne Steffenburg, Christopher Gillberg, Eva Billstedt
Background: It has been suggested that autism spectrum disorder (ASD) might be a "comorbid" condition in selective mutism (SM). Methods: In this retrospective study, we examined medical records of children with SM diagnosis (n=97) at a medical center specializing in assessment of ASD. Results: Mean age for onset of SM symptoms was 4.5 years and mean age at SM diagnosis was 8.8 years. SM was more common among girls (boy:girl ratio=2...
2018: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/29764916/adults-with-intellectual-disabilities-experience-shame-that-leads-to-psychological-distress-and-mental-illness-that-requires-assessment-and-treatment
#17
Michael Brown, Lynne Marsh
No abstract text is available yet for this article.
May 15, 2018: Evidence-based Nursing
https://www.readbyqxmd.com/read/29764901/the-histone-demethylase-kdm5-is-essential-for-larval-growth-in-drosophila
#18
Coralie Drelon, Helen M Belalcazar, Julie Secombe
Regulated gene expression is necessary for developmental and homeostatic processes. The KDM5 family of transcriptional regulators are histone H3 lysine 4 demethylases that can function through both demethylase-dependent and independent mechanisms. While loss and overexpression of KDM5 proteins are linked to intellectual disability and cancer, respectively, their normal developmental functions remain less characterized. Drosophila melanogaster provides an ideal system to investigate KDM5 function, as it encodes a single ortholog in contrast to the four paralogs found in mammalian cells...
May 15, 2018: Genetics
https://www.readbyqxmd.com/read/29764278/eating-well-living-well-and-weight-management-a-co-produced-semi-qualitative-study-of-barriers-and-facilitators-experienced-by-adults-with-intellectual-disabilities
#19
A J Doherty, S P Jones, U Chauhan, Jme Gibson
Adults with intellectual disabilities in England experience health inequalities. They are more likely than their non-disabled peers to be obese and at risk of serious medical conditions such as heart disease, stroke and type 2 diabetes. This semi-qualitative study engaged adults with intellectual disabilities in a co-production process to explore their perceived barriers and facilitators to eating well, living well and weight management. Nineteen participants with intellectual disabilities took part in four focus groups and one wider group discussion...
January 1, 2018: Journal of Intellectual Disabilities: JOID
https://www.readbyqxmd.com/read/29764276/-it-s-our-everyday-life-the-perspectives-of-persons-with-intellectual-disabilities-in-norway
#20
Aud Elisabeth Witsø, Brit Hauger
This study illuminates how adults with intellectual disabilities understand and describe their everyday life and its shortcomings when it comes to equal rights in the context of Norwegian community living. An inclusive research design, including nine persons with mild intellectual disability, two university researchers and two intellectual disability nurses from the municipality, was undertaken. An inductive thematic analysis of data identified three key themes: everyday life - context, rhythm and structure, social participation and staff - an ambiguous part of everyday life...
January 1, 2018: Journal of Intellectual Disabilities: JOID
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