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https://www.readbyqxmd.com/read/29353373/disturbance-of-metabotropic-glutamate-receptor-mediated-long-term-depression-mglu-ltd-of-excitatory-synaptic-transmission-in-the-rat-hippocampus-after-prenatal-immune-challenge
#1
Mélanie Cavalier, Azza Ben Sedrine, Lea Thevenet, Nadine Crouzin, Janique Guiramand, Marie-Céleste de Jésus Ferreira, Catherine Cohen-Solal, Gérard Barbanel, Michel Vignes
Maternal immune challenge has proved to induce moderate to severe behavioral disabilities in the offspring. Cognitive/behavioral deficits are supported by changes in synaptic plasticity in different brain areas. We have reported previously that prenatal exposure to bacterial LPS could induce inhibition of hippocampal long-term potentiation (LTP) in the CA1 area of the juvenile/adult male offspring associated with spatial learning inabilities. Nevertheless, deficits in plasticity could be observed at earlier stages as shown by the early loss of long-term depression (LTD) in immature animals...
January 20, 2018: Neurochemical Research
https://www.readbyqxmd.com/read/29352580/individual-student-characteristics-and-attainment-in-pre-registration-physiotherapy-a-retrospective-multi-site-cohort-study
#2
Meriel Norris, John A Hammond, Annabel Williams, Robert Grant, Sandra Naylor, Catherine Rozario
INTRODUCTION: Worldwide there is a desire to diversify the physiotherapy workforce. However, limited research indicates that some student characteristics linked to under-representation in pre registration physiotherapy education have lower attainment and greater attrition. This study explored the relationship between individual characteristics and success of students in pre registration physiotherapy education within South East England. DESIGN: A retrospective multi site cohort study including pre registration physiotherapy programmes in the South East of England...
October 31, 2017: Physiotherapy
https://www.readbyqxmd.com/read/29351346/the-congenital-heart-disease-genetic-network-study-cohort-description
#3
Thanh T Hoang, Elizabeth Goldmuntz, Amy E Roberts, Wendy K Chung, Jennie K Kline, John E Deanfield, Alessandro Giardini, Adolfo Aleman, Bruce D Gelb, Meghan Mac Neal, George A Porter, Richard Kim, Martina Brueckner, Richard P Lifton, Sharon Edman, Stacy Woyciechowski, Laura E Mitchell, A J Agopian
The Pediatric Cardiac Genomics Consortium (PCGC) designed the Congenital Heart Disease Genetic Network Study to provide phenotype and genotype data for a large congenital heart defects (CHDs) cohort. This article describes the PCGC cohort, overall and by major types of CHDs (e.g., conotruncal defects) and subtypes of conotrucal heart defects (e.g., tetralogy of Fallot) and left ventricular outflow tract obstructions (e.g., hypoplastic left heart syndrome). Cases with CHDs were recruited through ten sites, 2010-2014...
2018: PloS One
https://www.readbyqxmd.com/read/29350350/biochemical-changes-and-clinical-outcomes-in-34-patients-with-classic-galactosemia
#4
Tatiana Yuzyuk, Krista Viau, Ashley Andrews, Marzia Pasquali, Nicola Longo
Impaired activity of galactose-1-phosphate uridyltransferase (GALT) causes galactosemia, an autosomal recessive disorder of galactose metabolism. Early initiation of a galactose-restricted diet can prevent or resolve neonatal complications. Despite therapy, patients often experience long-term complications including speech impairment, learning disabilities, and premature ovarian insufficiency in females. This study evaluates clinical outcomes in 34 galactosemia patients with markedly reduced GALT activity and compares outcomes between patients with different levels of mean galactose-1-phosphate in red blood cells (GAL1P) using logistic regression: group 1 (n = 13) GAL1P ≤1...
January 19, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29345224/therapy-interventions-for-children-with-neurodisabilities-a-qualitative-scoping-study
#5
Bryony Beresford, Susan Clarke, Jane Maddison
BACKGROUND: Therapy interventions emerged four times in the top 10 research priorities in a James Lind Alliance research prioritisation exercise for children with neurodisabilities (Morris C, Simkiss D, Busk M, Morris M, Allard A, Denness J, et al. Setting research priorities to improve the health of children and young people with neurodisability: a British Academy of Childhood Disability-James Lind Alliance Research Priority Setting Partnership. BMJ Open 2015;5:e006233). The National Institute for Health Research (NIHR) commissioned this study as part of an information-gathering exercise in response to this...
January 2018: Health Technology Assessment: HTA
https://www.readbyqxmd.com/read/29338029/implicit-learning-deficit-in-children-with-duchenne-muscular-dystrophy-evidence-for-a-cerebellar-cognitive-impairment
#6
Stefano Vicari, Giorgia Piccini, Eugenio Mercuri, Roberta Battini, Daniela Chieffo, Sara Bulgheroni, Chiara Pecini, Simona Lucibello, Sara Lenzi, Federica Moriconi, Marika Pane, Adele D'Amico, Guja Astrea, Giovanni Baranello, Daria Riva, Giovanni Cioni, Paolo Alfieri
This study aimed at comparing implicit sequence learning in individuals affected by Duchenne Muscular Dystrophy without intellectual disability and age-matched typically developing children. A modified version of the Serial Reaction Time task was administered to 32 Duchenne children and 37 controls of comparable chronological age. The Duchenne group showed a reduced rate of implicit learning even if in the absence of global intellectual disability. This finding provides further evidence of the involvement of specific aspects of cognitive function in Duchenne muscular dystrophy and on its possible neurobiological substrate...
2018: PloS One
https://www.readbyqxmd.com/read/29336507/-learn-ing-what-is-important-to-children-and-young-people-with-intellectual-disabilities-when-they-are-in-hospital
#7
K Oulton, D Sell, F Gibson
BACKGROUND: The need to review health service provision for children and young people (CYP) with disabilities and their families in the United Kingdom has been expressed in multiple reports: the most consistent message being that services need to be tailored to meet their individual needs. Our aim was to understand the hospital-related needs and experiences of CYP with intellectual disabilities. METHOD: An ethnographic study of a neurosciences ward and outpatient department was conducted within a paediatric tertiary hospital setting...
January 16, 2018: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/29334835/national-approaches-to-promote-sports-and-physical-activity-in-adults-with-disabilities-examples-from-the-netherlands-and-canada
#8
Femke Hoekstra, Lynn Roberts, Caroline van Lindert, Kathleen A Martin Ginis, Lucas H V van der Woude, Mary Ann McColl
PURPOSE: This study described how the Dutch and Canadian governments promote high performance sports, recreational sports, and physical activity (PA) among adults with disabilities on a national level. METHODS: An internet-based study was conducted to identify and select relevant documents and websites containing information about the national approach to promote disability sports and physical activities in the Netherlands and Canada. RESULTS: Both governments promote high performance sports in similar ways, but use different strategies to promote recreational sports and physical activities...
January 15, 2018: Disability and Rehabilitation
https://www.readbyqxmd.com/read/29333085/next-generation-sequencing-expression-profiling-of-mitochondrial-subunits-in-men-with-klinefelter-syndrome
#9
Michele Salemi, Laura Cimino, Marika Marino, Rossella Cannarella, Rosita A Condorelli, Corrado Romano, Sandro La Vignera, Aldo E Calogero
Objectives: Klinefelter syndrome (KS) is one of the most common sex-chromosome disorders as it affects up to 1 in every 600-1000 newborn males. Men with KS carry one extra X chromosome and they usually present a 47,XXY karyotype, but less frequent variants have also been reported in literature. KS typical symptoms include tall stature, gynecomastia, broad hips, hypogonadism and absent spermatogenesis. The syndrome is also related to a wide range of cognitive deficits, among which language-based learning disabilities and verbal cognition impairment are frequently diagnosed...
2018: International Journal of Medical Sciences
https://www.readbyqxmd.com/read/29327140/children-s-experiences-of-congenital-heart-disease-a-systematic-review-of-qualitative-studies
#10
REVIEW
Lauren S H Chong, Dominic A Fitzgerald, Jonathan C Craig, Karine E Manera, Camilla S Hanson, David Celermajer, Julian Ayer, Nadine A Kasparian, Allison Tong
We aimed to describe the experiences of children and adolescents with congenital heart disease (CHD). Electronic databases were searched until August 2016. Qualitative studies of children's perspectives on CHD were included. Data was extracted using thematic synthesis. From 44 studies from 12 countries involving 995 children, we identified 6 themes: disrupting normality (denying the diagnosis, oscillating between sickness and health, destabilizing the family dynamic), powerlessness in deteriorating health (preoccupation with impending mortality, vulnerability to catastrophic complications, exhaustion from medical testing), enduring medical ordeals (traumatized by invasive procedures, disappointed by treatment failure, displaced by transition, valuing empathy and continuity in care, overcoming uncertainty with information), warring with the body (losing stamina, distressing inability to participate in sport, distorted body image, testing the limits), hampering potential and goals (feeling disabled, unfair judgment and exclusion, difficulties with academic achievement, limiting attainment and maintenance of life milestones), and establishing one's own pace (demarcating disease from life, determination to survive, taking limitations in their stride, embracing the positives, finding personal enrichment, relying on social or spiritual support)...
January 11, 2018: European Journal of Pediatrics
https://www.readbyqxmd.com/read/29326522/fragile-x-syndrome-a-rare-case-report-with-unusual-oral-features
#11
Prayas Ray, Arpanna Singh, Jayanta Kumar Dash, Prasanna Kumar Sahoo, Jitendra Kumar Dash
Fragile X syndrome (FXS) is a rare variant of special health-care need demonstrating delayed developmental milestones and associated with intellectual and emotional disabilities ranging from learning problem to mental retardation. The syndrome is usually not diagnosed until 8-9 years of age since the clinical manifestations of the syndrome are greatly attenuated in childhood. The physical characteristics such as facial features, hyperactivity, attention deficit, autistic behavior, and macroorchidism are quite evident in younger age group...
October 2017: Contemporary Clinical Dentistry
https://www.readbyqxmd.com/read/29323926/investigating-effects-of-sex-differences-and-prior-concussions-on-symptom-reporting-and-cognition-among-adolescent-soccer-players
#12
Brian L Brooks, Noah Silverberg, Bruce Maxwell, Rebekah Mannix, Ross Zafonte, Paul D Berkner, Grant L Iverson
BACKGROUND: There has been increasing concern regarding the possible effect of multiple concussions on the developing brain, especially for adolescent females. Hypothesis/Purpose: The objectives were to determine if there are differences in cognitive functioning, symptom reporting, and/or sex effects from prior concussions. In a very large sample of youth soccer players, it was hypothesized that (1) there would be no differences in cognitive test performance between those with and without prior concussions, (2) baseline preseason symptoms would be better predicted by noninjury factors than concussion history, and (3) males and females with prior concussions would not have differences in cognition or symptoms...
January 1, 2018: American Journal of Sports Medicine
https://www.readbyqxmd.com/read/29323756/juvenile-taiep-rats-have-shorter-dendritic-trees-in-the-dorsal-field-of-the-hippocampus-without-spatial-learning-disabilities
#13
Adriana B Silva, Dolores A Bravo-Duran, Jose R Eguibar, Carmen Cortes
Myelin mutant taiep rats show a progressive demyelination in the central nervous system due to an abnormal accumulation of microtubules in the cytoplasm and the processes on their oligodendrocytes. Demyelination is associated with electrophysiological alterations and the mutant had a progressive astrocytosis. The illness is associated with change in cytokine levels and in the expression of different nitric oxide synthase and concomitantly lipoperoxidation in several areas of the brain. However, until now there has been no detailed anatomical analysis of neurons in this mutant...
January 11, 2018: Synapse
https://www.readbyqxmd.com/read/29321709/the-probable-prevalence-and-sociodemographic-characteristics-of-specific-learning-disorder-in-primary-school-children-in-edirne
#14
Işık Görker, Leyla Bozatli, Ümran Korkmazlar, Meltem Yücel Karadağ, Cansın Ceylan, Ceren Söğüt, Hasan Cem Aykutlu, Büşra Subay, Nesrin Turan
Introduction: The aim of this study was to research the probable prevalence of Specific Learning Disorder (SLD) in primary school children in Edirne City and the relationships with their sociodemographic characteristics. Methods: The sample of our study was composed of 2,174 children who were educated in primary schools in second, third, and fourth grades in the academic year 2013-2014 in Edirne City. The teachers and parents of these children were given Specific Learning Difficulties Symptom Scale, Learning Disabilities Symptoms Checklist (teacher and parent forms), and sociodemographic data forms to fill in...
December 2017: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/29320976/the-mediational-role-of-helplessness-in-psychological-outcomes-in-systemic-lupus-erythematosus
#15
S D Mills, D Azizoddin, S Gholizadeh, G Z Racaza, P M Nicassio
Objective Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that can result in disability and psychological distress. Although pain has been associated with depressive symptomatology and stress in SLE, a paucity of theoretical models have been used to explain the relationship between pain and psychological distress in this population. Thus, the present study examined helplessness as a mediator of the relationship between pain and psychological distress among patients with SLE. Methods Multiple mediation analysis was used to examine the hypothesis that learned helplessness mediates the relationship between pain and symptoms of anxiety, depression, and stress in a sample of patients with SLE ( N = 136) receiving medical care at Cedars Sinai Medical Center...
January 1, 2018: Lupus
https://www.readbyqxmd.com/read/29319274/evaluating-a-co-facilitation-approach-to-service-user-and-carer-involvement-in-undergraduate-nurse-education
#16
Anne Felton, Joan Cook, Roni Anthony
Partnership working with service users and carers is an integral aspect of healthcare practice and education. Increasingly complex healthcare environments, alongside changes in higher education, have led to the development of innovative learning strategies, resulting in opportunities for service users to participate in nurse education. This article describes the planning, implementation and evaluation of a co-facilitation approach to learning, in which service users and carers worked alongside lecturers to facilitate small seminar group activities with first-year undergraduate nursing students...
January 10, 2018: Nursing Standard
https://www.readbyqxmd.com/read/29317619/phf8-histone-demethylase-deficiency-causes-cognitive-impairments-through-the-mtor-pathway
#17
Xuemei Chen, Shuai Wang, Ying Zhou, Yanfei Han, Shengtian Li, Qing Xu, Longyong Xu, Ziqi Zhu, Youming Deng, Lu Yu, Lulu Song, Adele Pin Chen, Juan Song, Eiki Takahashi, Guang He, Lin He, Weidong Li, Charlie Degui Chen
Epigenomic abnormalities caused by genetic mutation in epigenetic regulators can result in neurodevelopmental disorders, deficiency in neural plasticity and mental retardation. As a histone demethylase, plant homeodomain finger protein 8 (Phf8) is a candidate gene for syndromal and non-specific forms of X-chromosome-linked intellectual disability (XLID). Here we report that Phf8 knockout mice displayed impaired learning and memory, and impaired hippocampal long-term potentiation (LTP) without gross morphological defects...
January 9, 2018: Nature Communications
https://www.readbyqxmd.com/read/29317601/common-basis-for-orofacial-clefting-and-cortical-interneuronopathy
#18
Lydia J Ansen-Wilson, Joshua L Everson, Dustin M Fink, Henry W Kietzman, Ruth Sullivan, Robert J Lipinski
Orofacial clefts (OFCs) of the lip and/or palate are among the most common human birth defects. Current treatment strategies focus on functional and cosmetic repair but even when this care is available, individuals born with OFCs are at high risk for persistent neurobehavioral problems. In addition to learning disabilities and reduced academic achievement, recent evidence associates OFCs with elevated risk for a constellation of psychiatric outcomes including anxiety disorders, autism spectrum disorder, and schizophrenia...
January 10, 2018: Translational Psychiatry
https://www.readbyqxmd.com/read/29311368/education-research-difficult-conversations-in-neurology-lessons-learned-from-medical-students
#19
Monica E Lemmon, Charlene Gamaldo, Rachel Marie E Salas, Ankita Saxena, Tiana E Cruz, Renee D Boss, Roy E Strowd
OBJECTIVE: To characterize features of medical student exposure to difficult conversations during a neurology core clerkship. METHODS: This was a cross-sectional concurrent nested mixed methods study, and all students rotating through a required neurology clerkship between 2014 and 2015 were enrolled. Data collection included an electronic communication tracker, baseline and end-of-clerkship surveys, and 4 facilitated focus groups. Students were asked to log exposure to patient-clinician conversations about (1) new disability, (2) poor prognosis, (3) prognostic uncertainty (4), terminal diagnosis, and (5) end-of-life care...
January 9, 2018: Neurology
https://www.readbyqxmd.com/read/29306936/remote-healing-of-bipolar-disorder-eating-disorder-not-otherwise-specified-posttraumatic-stress-disorder-fibromyalgia-and-irritable-bowel-syndrome-through-lifestyle-change
#20
Kelly Brogan
This case report illustrates the relationship between gut, hormonal, and brain function in that dietary change, mindfulness interventions, and detoxification led to resolution of disabling psychiatric symptoms. In this case, a single Caucasian female resolved her symptoms of bipolar disorder (BD) including psychotic features and suicidality, posttraumatic stress disorder symptoms from childhood torture, disordered eating, fibromyalgia, and irritable bowel syndrome through lifestyle interventions. This patient survived a severe trauma history only to develop alcohol dependence, disordered eating, and depressive symptoms, which were treated with a polypharmaceutical psychiatric approach...
October 2017: Advances in Mind-body Medicine
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