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Specific Learning Disabilities

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https://www.readbyqxmd.com/read/29040524/potentiation-of-excitatory-synaptic-transmission-ameliorates-aggression-in-mice-with-stxbp1-haploinsufficiency
#1
Hiroyuki Miyamoto, Atsushi Shimohata, Manabu Abe, Teruo Abe, Emi Mazaki, Kenji Amano, Toshimitsu Suzuki, Tetsuya Tatsukawa, Shigeyoshi Itohara, Kenji Sakimura, Kazuhiro Yamakawa
Genetic studies point to a major role of de novo mutations in neurodevelopmental disorders of intellectual disability, autism spectrum disorders, and epileptic encephalopathy. The STXBP1 gene encodes the syntaxin-binding protein 1 (Munc18-1) that critically controls synaptic vesicle exocytosis and synaptic transmission. This gene harbors a high frequency of de novo mutations, which may play roles in these neurodevelopmental disorders. However, the system and behavioral-level pathophysiological changes caused by these genetic defects remain poorly understood...
October 11, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29035779/data-driven-heterogeneity-in-mathematical-learning-disabilities-based-on-the-triple-code-model
#2
Christian Peake, Juan E Jiménez, Cristina Rodríguez
Many classifications of heterogeneity in mathematical learning disabilities (MLD) have been proposed over the past four decades, however no empirical research has been conducted until recently, and none of the classifications are derived from Triple Code Model (TCM) postulates. The TCM proposes MLD as a heterogeneous disorder, with two distinguishable profiles: a representational subtype and a verbal subtype. A sample of elementary school 3rd to 6th graders was divided into two age cohorts (3rd - 4th grades, and 5th - 6th grades)...
October 13, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29021934/the-effects-of-bug-in-ear-coaching-on-pre-service-behavior-analysts-use-of-functional-communication-training
#3
Kathleen Artman-Meeker, Nancy Rosenberg, Natalie Badgett, Xueyan Yang, Ashley Penney
Behavior analysts play an important role in supporting the behavior and learning of young children with disabilities in natural settings. However, there is very little research related specifically to developing the skills and competencies needed by pre-service behavior analysts. This study examined the effects of "bug-in-ear" (BIE) coaching on pre-service behavior analysts' implementation of functional communication training with pre-school children with autism in their classrooms. BIE coaching was associated with increases in the rate of functional communication training trials each intern initiated per session and in the fidelity with which interns implemented functional communication training...
September 2017: Behavior Analysis in Practice
https://www.readbyqxmd.com/read/29020793/sexual-abuse-of-children-with-learning-disabilities
#4
Jesse J Helton, Tatiana Gochez-Kerr, Ellen Gruber
Although children with a learning disability (LD) are at an increased risk of sexual abuse, it is unclear whether conditions specific to their impairment are associated with sexual assault or if risk derives from other comorbid conditions such as behavioral problems, social skill deficits, or loneliness. Using a national probability study of child maltreatment investigations in the United States ( n = 2,033), we hypothesized that children over the age of 4 with a LD are target congruent to a sexual perpetrator...
January 1, 2017: Child Maltreatment
https://www.readbyqxmd.com/read/29016856/neuronal-overexpression-of-ube3a-isoform-2-causes-behavioral-impairments-and-neuroanatomical-pathology-relevant-to-15q11-2-q13-3-duplication-syndrome
#5
Nycole A Copping, Sarah G B Christian, Dylan J Ritter, M Saharul Islam, Nathalie Buscher, Dorota Zolkowska, Michael C Pride, Elizabeth L Berg, Janine M LaSalle, Jacob Ellegood, Jason P Lerch, Lawrence T Reiter, Jill L Silverman, Scott V Dindot
Maternally derived copy number gains of human chromosome 15q11.2-q13.3 (Dup15q syndrome or Dup15q) cause intellectual disability, epilepsy, developmental delay, hypotonia, speech impairments, and minor dysmorphic features. Dup15q syndrome is one of the most common and penetrant chromosomal abnormalities observed in individuals with autism spectrum disorder (ASD). Although ∼40 genes are located in the 15q11.2-q13.3 region, overexpression of the ubiquitin-protein E3A ligase (UBE3A) gene is thought to be the predominant molecular cause of the phenotypes observed in Dup15q syndrome...
October 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28985496/domino-using-machine-learning-to-predict-genes-associated-with-dominant-disorders
#6
Mathieu Quinodoz, Beryl Royer-Bertrand, Katarina Cisarova, Silvio Alessandro Di Gioia, Andrea Superti-Furga, Carlo Rivolta
In contrast to recessive conditions with biallelic inheritance, identification of dominant (monoallelic) mutations for Mendelian disorders is more difficult, because of the abundance of benign heterozygous variants that act as massive background noise (typically, in a 400:1 excess ratio). To reduce this overflow of false positives in next-generation sequencing (NGS) screens, we developed DOMINO, a tool assessing the likelihood for a gene to harbor dominant changes. Unlike commonly-used predictors of pathogenicity, DOMINO takes into consideration features that are the properties of genes, rather than of variants...
October 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28978667/foxp1-in-forebrain-pyramidal-neurons-controls-gene-expression-required-for-spatial-learning-and-synaptic-plasticity
#7
Daniel J Araujo, Kazuya Toriumi, Christine O Escamilla, Ashwinikumar Kulkarni, Ashley G Anderson, Matthew Harper, Noriyoshi Usui, Jacob Ellegood, Jason P Lerch, Shari G Birnbaum, Haley O Tucker, Craig M Powell, Genevieve Konopka
Genetic perturbations of the transcription factor Forkhead Box P1 (FOXP1) are causative for severe forms of autism spectrum disorder that are often comorbid with intellectual disability. Recent work has begun to reveal an important role for FoxP1 in brain development, but the brain-region-specific contributions of Foxp1 to autism and intellectual disability phenotypes have yet to be fully determined. Here, we describe Foxp1 conditional knockout (Foxp1(cKO) ) male and female mice with loss of Foxp1 in the pyramidal neurons of the neocortex and the CA1/CA2 subfields of the hippocampus...
October 4, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28969983/roles-for-arc-in-metabotropic-glutamate-receptor-dependent-ltd-and-synapse-elimination-implications-in-health-and-disease
#8
REVIEW
Julia R Wilkerson, Joseph P Albanesi, Kimberly M Huber
The Arc gene is robustly transcribed in specific neural ensembles in response to experience-driven activity. Upon induction, Arc mRNA is transported to dendrites, where it can be rapidly and locally translated by activation of metabotropic glutamate receptors (mGluR1/5). mGluR-induced dendritic synthesis of Arc is implicated in weakening or elimination of excitatory synapses by triggering endocytosis of postsynaptic AMPARs in both hippocampal CA1 and cerebellar Purkinje neurons. Importantly, CA1 neurons with experience-induced Arc mRNA are susceptible, or primed for mGluR-induced long-term synaptic depression (mGluR-LTD)...
September 29, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/28969457/educational-content-related-to-postcolonialism-and-indigenous-health-inequities-recommended-for-all-rehabilitation-students-in-canada-a-qualitative-study
#9
Ala Hojjati, Allana S W Beavis, Aly Kassam, Daniel Choudhury, Michelle Fraser, Renée Masching, Stephanie A Nixon
BACKGROUND: Postcolonial analysis can help rehabilitation providers understand how colonization and racialization create and sustain health inequities faced by indigenous peoples. However, there is little guidance in the literature regarding inclusion of postcolonialism within rehabilitation educational curricula. Therefore, this study explored perspectives regarding educational content related to postcolonialism and indigenous health that rehabilitation students in Canada should learn to increase health equity...
October 2, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28958365/trauma-education-and-prevention
#10
REVIEW
Richard Sidwell, Maher M Matar, Joseph V Sakran
Trauma education and injury prevention are essential components of a robust trauma program. Educational programs address specific knowledge gaps and provide focused and structured learning. Advanced Trauma Life Support is the most well-known. Each offering seems to be valid, although it has been difficult to prove improved patient care outcomes owing specifically to any of them. Injury prevention offers the best opportunity to limit death and disability owing to trauma. Injury prevention initiatives have paid tremendous dividends in reducing the mortality rates for motor vehicle crashes...
October 2017: Surgical Clinics of North America
https://www.readbyqxmd.com/read/28954504/risk-analysis-for-operating-active-wheelchairs-in-non-urban-settings
#11
Maciej Sydor, Andrzej Krauss, Hanna Krauss
INTRODUCTION: A wheelchair is a special vehicle designed specifically for people with walking limitations. One of the types is an active wheelchair. This is a manually propelled wheelchair, the design and structure of which maximise the mobility of its given user at the expense of accepted instability. OBJECTIVE: The aim of this study was to identify and present a hierarchy of potential incidents causing a health hazard and reducing the mobility of individuals with ambulatory disability who use active wheelchairs in non-urban settings...
September 21, 2017: Annals of Agricultural and Environmental Medicine: AAEM
https://www.readbyqxmd.com/read/28953831/attitudes-and-knowledge-of-parents-of-preschool-children-about-specific-learning-disabilities
#12
Ivana Zivoder, Sanja Martic-Biocina, Jelena Miklecic, Goran Kozina
INTRODUCTION: Specific learning disorders include dyslexia - reading disorder, dysgraphia - writing disorder, dyspraxia and discoloration - difficulties with mathematical tasks. Along with these disorders, hyperactivity disorder and attention deficit are often associated with these disorders. According to available data, 2/3 of children who have difficulty reading, writing, and counting have a lack of attention. Diagnosing these disorders is an important task for parents, preschools and schools, because it is prerequisite for understanding and treatment...
September 2017: Psychiatria Danubina
https://www.readbyqxmd.com/read/28953813/survey-on-the-knowledge-and-expectations-of-psychiatry-of-intellectual-disability-id-in-junior-doctors-joining-a-nhs-mental-health-trust
#13
Madhusudan Deepak Thalitaya, Claire Reynolds
BACKGROUND: Nationally, there is a drive to rotate more Foundation and GP Trainee Doctors through Psychiatry posts. In East London Foundation Trust (ELFT) in Bedfordshire, doctors from Core Psychiatry, Foundation and GP training programmes come to train in Psychiatry. Many will not have worked in Psychiatry before and have little experience of patients with ID. The prevalence of people with ID is increasing with improved life expectancy. They are a complex and vulnerable group with considerable wider legal, ethical and social issues...
September 2017: Psychiatria Danubina
https://www.readbyqxmd.com/read/28949092/profiling-arthritis-pain-with-decision-tree
#14
Man Hung, Jerry Bounsanga, Fangzhou Liu, Maren W Voss
BACKGROUND: Arthritis is the leading cause of work disability and contributes to lost productivity. Previous studies showed that various factors predict pain but they were limited in sample size and scope from a data analytics perspective. OBJECTIVES: The current study applied machine learning algorithms to identify predictors of pain associated with arthritis in a large national sample. METHODS: Using data from the 2011-2012 Medical Expenditure Panel Survey, data mining was performed to develop algorithms to identify factors and patterns that contribute to risk of pain...
September 26, 2017: Pain Practice: the Official Journal of World Institute of Pain
https://www.readbyqxmd.com/read/28948974/a-upf3b-mutant-mouse-model-with-behavioral-and-neurogenesis-defects
#15
L Huang, E Y Shum, S H Jones, C-H Lou, J Dumdie, H Kim, A J Roberts, L A Jolly, J L Espinoza, D M Skarbrevik, M H Phan, H Cook-Andersen, N R Swerdlow, J Gecz, M F Wilkinson
Nonsense-mediated RNA decay (NMD) is a highly conserved and selective RNA degradation pathway that acts on RNAs terminating their reading frames in specific contexts. NMD is regulated in a tissue-specific and developmentally controlled manner, raising the possibility that it influences developmental events. Indeed, loss or depletion of NMD factors have been shown to disrupt developmental events in organisms spanning the phylogenetic scale. In humans, mutations in the NMD factor gene, UPF3B, cause intellectual disability (ID) and are strongly associated with autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD) and schizophrenia (SCZ)...
September 26, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28947693/-oral-healthcare-for-the-persons-with-special-needs
#16
Ichijiro Morisaki
The field of special care dentistry is rapidly gaining recognition as a service that should be provided to the persons with physical, mental or intellectual disabilities by general practitioner, pediatric or geriatric dentists as well as dental hygienists. Because the oral healthcare and dental treatments are given in the narrow space of oral cavity and also accompanying technical difficulties with high risk of injury, the special needs patients are treated under being controlled their behavior or body motion by applying psychological, physical or pharmacological techniques...
2017: Clinical Calcium
https://www.readbyqxmd.com/read/28936361/relationships-between-eye-movements-during-sentence-reading-comprehension-word-spelling-and-reading-and-dti-and-fmri-connectivity-in-students-with-and-without-dysgraphia-or-dyslexia
#17
Kevin Yagle, Todd Richards, Katie Askren, Zoe Mestre, Scott Beers, Robert Abbott, William Nagy, Peter Boord, Virginia Berninger
While eye movements were recorded and brains scanned, 29 children with and without specific learning disabilities (SLDs) decided if sentences they read (half with only correctly spelled words and half with homonym foils) were meaningful. Significant main effects were found for diagnostic groups (non-SLD control, dysgraphia control, and dyslexia) in total fixation (dwell) time, total number of fixations, and total regressions in during saccades; the dyslexia group had longer and more fixations and made more regressions in during saccades than either control group...
January 2017: Journal of Systems and Integrative Neuroscience
https://www.readbyqxmd.com/read/28933956/relationship-between-reading-and-long-term-storage-and-retrieval-glr-in-college-students
#18
Maria Jesus Avitia, Alan S Kaufman, Melissa Bray, James C Kaufman
The purpose of this study was to (a) identify the relationship between specific types of reading ability, different forms of learning, and long-term memory and retrieval (Glr); and then (b) to determine the degree to which self-assessed reading ability and a Glr measure could predict objective reading ability. College students were administered three different reading assessments from the Kaufman Test of Educational Achievement, Second Edition (KTEA-II): word reading, reading comprehension, and nonsense word decoding...
September 21, 2017: Applied Neuropsychology. Adult
https://www.readbyqxmd.com/read/28931509/development-and-validation-of-qmortality-risk-prediction-algorithm-to-estimate-short-term-risk-of-death-and-assess-frailty-cohort-study
#19
Julia Hippisley-Cox, Carol Coupland
Objectives To derive and validate a risk prediction equation to estimate the short term risk of death, and to develop a classification method for frailty based on risk of death and risk of unplanned hospital admission.Design Prospective open cohort study.Participants Routinely collected data from 1436 general practices contributing data to QResearch in England between 2012 and 2016. 1079 practices were used to develop the scores and a separate set of 357 practices to validate the scores. 1.47 million patients aged 65-100 years were in the derivation cohort and 0...
September 20, 2017: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/28918392/cnvs-affecting-cancer-predisposing-genes-cpgs-detected-as-incidental-findings-in-routine-germline-diagnostic-chromosomal-microarray-cma-testing
#20
Josie Innes, Lisa Reali, Jill Clayton-Smith, Georgina Hall, Derek Hk Lim, George J Burghel, Kim French, Unzela Khan, Daniel Walker, Fiona Lalloo, D Gareth R Evans, Dominic McMullan, Eamonn R Maher, Emma R Woodward
BACKGROUND: Identification of CNVs through chromosomal microarray (CMA) testing is the first-line investigation in individuals with learning difficulties/congenital abnormalities. Although recognised that CMA testing may identify CNVs encompassing a cancer predisposition gene (CPG), limited information is available on the frequency and nature of such results. METHODS: We investigated CNV gains and losses affecting 39 CPGs in 3366 pilot index case individuals undergoing CMA testing, and then studied an extended cohort (n=10 454) for CNV losses at 105 CPGs and CNV gains at 9 proto-oncogenes implicated in inherited cancer susceptibility...
September 16, 2017: Journal of Medical Genetics
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