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Specific Learning Disability

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https://www.readbyqxmd.com/read/28440815/15q11-2-cnv-affects-cognitive-structural-and-functional-correlates-of-dyslexia-and-dyscalculia
#1
M O Ulfarsson, G B Walters, O Gustafsson, S Steinberg, A Silva, O M Doyle, M Brammer, D F Gudbjartsson, S Arnarsdottir, G A Jonsdottir, R S Gisladottir, G Bjornsdottir, H Helgason, L M Ellingsen, J G Halldorsson, E Saemundsen, B Stefansdottir, L Jonsson, V K Eiriksdottir, G R Eiriksdottir, G H Johannesdottir, U Unnsteinsdottir, B Jonsdottir, B B Magnusdottir, P Sulem, U Thorsteinsdottir, E Sigurdsson, D Brandeis, A Meyer-Lindenberg, H Stefansson, K Stefansson
Several copy number variants have been associated with neuropsychiatric disorders and these variants have been shown to also influence cognitive abilities in carriers unaffected by psychiatric disorders. Previously, we associated the 15q11.2(BP1-BP2) deletion with specific learning disabilities and a larger corpus callosum. Here we investigate, in a much larger sample, the effect of the 15q11.2(BP1-BP2) deletion on cognitive, structural and functional correlates of dyslexia and dyscalculia. We report that the deletion confers greatest risk of the combined phenotype of dyslexia and dyscalculia...
April 25, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28436202/a-common-genetic-variant-in-foxp2-is-associated-with-language-based-learning-dis-abilities-evidence-from-two-italian-independent-samples
#2
Alessandra Mozzi, Valentina Riva, Diego Forni, Manuela Sironi, Cecilia Marino, Massimo Molteni, Stefania Riva, Franca R Guerini, Mario Clerici, Rachele Cagliani, Sara Mascheretti
Language-based Learning Disabilities (LLDs) encompass a group of complex, comorbid, and developmentally associated deficits in communication. Language impairment and developmental dyslexia (DD) represent the most recognized forms of LLDs. Substantial genetic correlations exist between language and reading (dis)abilities. Common variants in the FOXP2 gene were consistently associated with language- and reading-related neuropsychological and neuroanatomical phenotypes. We tested the effect of a FOXP2 common variant, that is, rs6980093 (A/G), on quantitative measures of language and reading in two independent Italian samples: a population-based cohort of 699 subjects (3-11 years old) and a sample of 572 children with DD (6-18 years old)...
April 24, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28432141/the-spacing-effect-for-structural-synaptic-plasticity-provides-specificity-and-precision-in-plastic-changes
#3
Martin A San, L Rela, B D Gelb, M R Pagani
In contrast to trials of training without intervals (massed training), training trials spaced over time (spaced training) induce a more persistent memory identified as long-term memory (LTM). This phenomenon known as "the spacing effect for memory" is poorly understood. LTM is supported by structural synaptic plasticity; however, how synapses integrate spaced stimuli remains elusive. Here, we analyzed events of structural synaptic plasticity at the single synapse level after distinct patterns of stimulation in motoneurons of Drosophila We found that the spacing effect is a phenomenon detected at synaptic level, which determine the specificity and the precision in structural synaptic plasticity...
April 21, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28431841/cognitive-profile-and-disorders-affecting-higher-brain-functions-in-paediatric-patients-with-neurofibromatosis-type-1
#4
E Vaucheret Paz, A López Ballent, C Puga, M J García Basalo, F Baliarda, C Ekonen, R Ilari, G Agosta
INTRODUCTION: Neurofibromatosis type 1 (NF1) is a common neurocutaneous syndrome often associated with specific cognitive deficits that are rarely monitored during follow-up of these patients. OBJECTIVE: The purpose of our study is two-fold. First, we aimed to describe the cognitive profile of patients with NF1 and detect disorders in higher brain functions associated with the disease. Second, we identified the reasons for consultation associated with school performance in these patients...
April 18, 2017: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/28397306/a-review-of-cognitive-impairments-in-children-with-intellectual-disabilities-implications-for-cognitive-behaviour-therapy
#5
Anastasia Hronis, Lynette Roberts, Ian I Kneebone
OBJECTIVE: Nearly half of children with intellectual disability (ID) have comorbid affective disorders. These problems are chronic if left untreated and can significantly impact upon future vocational, educational, and social opportunities. Despite this, there is a paucity of research into effective treatments for this population. Notably, one of the most supported of psychological therapies, cognitive behaviour therapy (CBT), remains largely uninvestigated in children with ID. The current review considers the neuropsychological profile of children and adolescents with mild to moderate ID, with a view to informing how CBT might best be adapted for children and adolescents with ID...
April 11, 2017: British Journal of Clinical Psychology
https://www.readbyqxmd.com/read/28393676/deficit-in-phonological-processes-a-characteristic-of-the-neuropsychological-profile-of-children-with-nf1
#6
Yves Chaix, Valérie Lauwers-Cancès, Nathalie Faure-Marie, Catherine Gentil, Sandrine Lelong, Elisabeth Schweitzer, Diana Rodriguez, Stéphanie Iannuzzi, Isabelle Kemlin, Nathalie Dorison, François Rivier, Maryline Carniero, Elodie Preclaire, Sébastien Barbarot, Laurence Lion-François, Pierre Castelnau
Learning disabilities are one of the most frequent complications of neurofibromatosis type 1 (NF1) in children. Studies of the effects of the neurocognitive deficit on academic performance are relatively rare, owing to the small size of the populations concerned. However, research is needed to develop effective rehabilitation programs. In the present study, we explored the impact of a possible phonological deficit on the reading abilities of children with NF1. A multicenter, cross-sectional study was conducted in France on two groups of 75 children with or without NF1 aged 8-12 years, matched for age, sex, handedness, and reading level...
April 10, 2017: Child Neuropsychology: a Journal on Normal and Abnormal Development in Childhood and Adolescence
https://www.readbyqxmd.com/read/28374730/-the-improvement-of-the-abilities-to-maintain-motor-coordination-and-equilibrium-in-the-students-presenting-with-the-functional-disorders-of-the-musculoskeletal-system-by-introducing-the-elements-of-therapeutic-physical-training-into-the-structure-of-academic
#7
L V Kapilevich, K V Davlet'yarova, N A Ovchinnikova
The problem of deterioration of the health status in the university students at present remains as topical as it was before being a major cause of impaired working capacity, disability and/or poor social adaptation of the large number of graduates. It has been proposed to introduce a class of therapeutic physical training (TPT) into the schedule of physical education for the students. AIM: The objective of the present study was to evaluate the effectiveness of the formation of the skills needed to maintain motor coordination and equilibrium in the students presenting with the functional disorders of the musculoskeletal system (MSS) including scoliosis by the introduction of the elements of therapeutic physical training into their academic schedules...
2017: Voprosy Kurortologii, Fizioterapii, i Lechebnoĭ Fizicheskoĭ Kultury
https://www.readbyqxmd.com/read/28373692/a-missense-mutation-in-katnal1-underlies-behavioural-neurological-and-ciliary-anomalies
#8
G Banks, G Lassi, A Hoerder-Suabedissen, F Tinarelli, M M Simon, A Wilcox, P Lau, T N Lawson, S Johnson, A Rutman, M Sweeting, J E Chesham, A R Barnard, N Horner, H Westerberg, L B Smith, Z Molnár, M H Hastings, R A Hirst, V Tucci, P M Nolan
Microtubule severing enzymes implement a diverse range of tissue-specific molecular functions throughout development and into adulthood. Although microtubule severing is fundamental to many dynamic neural processes, little is known regarding the role of the family member Katanin p60 subunit A-like 1, KATNAL1, in central nervous system (CNS) function. Recent studies reporting that microdeletions incorporating the KATNAL1 locus in humans result in intellectual disability and microcephaly suggest that KATNAL1 may play a prominent role in the CNS; however, such associations lack the functional data required to highlight potential mechanisms which link the gene to disease symptoms...
April 4, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28372489/music-for-all-including-young-people-with-intellectual-disability-in-a-university-environment
#9
Daphne Rickson, Penny Warren
We investigated a continuing education course in creative music making, initiated to promote the inclusion of young people with intellectual disability in a university setting. Despite organizers' attempts to foster diversity within the student cohort, enrolments were almost exclusively from students who had intellectual disability. Being in the university environment, and in a place of higher learning, seemed to be valued by some. However, students' main focus was on group musicking in a dedicated music room rather than interacting with the wider university community...
January 1, 2017: Journal of Intellectual Disabilities: JOID
https://www.readbyqxmd.com/read/28369378/reduced-cytoplasmic-mbnl1-is-an-early-event-in-a-brain-specific-mouse-model-of-myotonic-dystrophy
#10
Pei-Ying Wang, Yu-Mei Lin, Lee-Hsin Wang, Ting-Yu Kuo, Sin-Jhong Cheng, Guey-Shin Wang
Myotonic dystrophy type 1 (DM1) is caused by an expansion of CTG repeats in the 3' untranslated region (UTR) of dystrophia myotonia protein kinase (DMPK) gene. Cognitive impairment associated with structural change in the brain is prevalent in DM1. How this histopathological abnormality during disease progression develops remains elusive. Nuclear accumulation of mutant DMPK mRNA containing expanded CUG RNA disrupting the cytoplasmic and nuclear activities of muscleblind-like (MBNL) protein has been implicated in DM1 neural pathogenesis...
March 24, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28368273/consensus-statement-of-the-indian-academy-of-pediatrics-on-evaluation-and-management-of-learning-disability
#11
M K C Nair, Chhaya Prasad, Jeeson Unni, Anjan Bhattacharya, S S Kamath, Samir Dalwai
JUSTIFICATION: Learning Disability (LD) in children is a well-recognized developmental disorder, which has profound academic and psychosocial consequences. Due to the complex nature of LD and multiple disadvantages posed to the child due to LD, a multidisciplinary approach towards intervention is warranted. Given the paucity of evidence-based standardized treatment approaches, consensus guidelines for management of LD are needed. PROCESS: The meeting on formulation of national consensus guidelines on neurodevelopmental disorders was organized by Indian Academy of Pediatrics in Mumbai, on 18th and 19th December, 2015...
March 29, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28368082/-comparison-of-the-wechsler-memory-scale-iii-and-the-spain-complutense-verbal-learning-test-in-acquired-brain-injury-construct-validity-and-ecological-validity
#12
P Luna-Lario, J Pena, N Ojeda
AIMS: To perform an in-depth examination of the construct validity and the ecological validity of the Wechsler Memory Scale-III (WMS-III) and the Spain-Complutense Verbal Learning Test (TAVEC). PATIENTS AND METHODS: The sample consists of 106 adults with acquired brain injury who were treated in the Area of Neuropsychology and Neuropsychiatry of the Complejo Hospitalario de Navarra and displayed memory deficit as the main sequela, measured by means of specific memory tests...
April 16, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28360787/using-neuropsychometric-measurements-in-the-differential-diagnosis-of-specific-learning-disability
#13
Sevil Turgut Turan, Emel Erdoğan Bakar, Gülsen Erden, Sirel Karakaş
INTRODUCTION: The aim of this study was to develop a neuropsychometric battery for the differential diagnosis of specific learning disability (SLD), with specific respect to attention deficit hyperactivity disorder (ADHD), and to help resolve the conflicting results in the literature by an integrative utilization of scores on both the Bannatyne categories and neuropsychological tests. METHODS: The sample included 168 primary school boys who were assigned to SLD (n=21), ADHD (n=45), SLD and ADHD (n=57), and control groups (n=45)...
June 2016: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/28356121/a-survey-of-the-impact-of-owning-a-service-dog-on-quality-of-life-for-individuals-with-physical-and-hearing-disability-a-pilot-study
#14
COMPARATIVE STUDY
Sophie S Hall, Jessica MacMichael, Amy Turner, Daniel S Mills
BACKGROUND: Quality of life refers to a person's experienced standard of health, comfort and happiness and is typically measured using subjective self-report scales. Despite increasing scientific interest in the value of dogs to human health and the growing demand for trained service dogs, to date no research has reported how service dogs may affect client perceptions of quality of life. METHOD: We compared quality of life scores on the 16 item Flanagan quality of life scale from individuals who owned a trained service dog with those who were eligible to receive a dog, but did not yet have one (waiting list control)...
March 29, 2017: Health and Quality of Life Outcomes
https://www.readbyqxmd.com/read/28344438/learning-disabilities-in-neuromuscular-disorders-a-springboard-for-adult-life
#15
Guja Astrea, Roberta Battini, Sara Lenzi, Silvia Frosini, Silvia Bonetti, Elena Moretti, Silvia Perazza, Filippo M Santorelli, Chiara Pecini
Although the presence of cognitive deficits in Duchenne muscular dystrophy or myotonic dystrophy DM1 is well established in view of brain-specific expression of affected muscle proteins, in other neuromuscular disorders, such as congenital myopathies and limb-girdle muscular dystrophies, cognitive profiles are poorly defined. Also, there are limited characterization of the cognitive profile of children with congenital muscular dystrophies, notwithstanding the presence of cerebral abnormality in some forms, and in spinal muscular atrophies, with the exception of distal spinal muscular atrophy (such as the DYN1CH1- associated form)...
October 2016: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28338573/a-machine-learning-based-surface-electromyography-topography-evaluation-for-prognostic-prediction-of-functional-restoration-rehabilitation-in-chronic-low-back-pain
#16
Naifu Jiang, Keith Dip-Kei Luk, Yong Hu
STUDY DESIGN: A retrospective study. OBJECTIVE: To investigate the feasibility and applicability of support vector machine (SVM) algorithm in classifying patients with LBP who would obtain satisfactory or unsatisfactory progress after the functional restoration rehabilitation program. SUMMARY OF BACKGROUND DATA: Dynamic surface electromyography (SEMG) topography has demonstrated the potential use in predicting the prognosis of functional restoration rehabilitation for patients with low back pain (LBP)...
March 23, 2017: Spine
https://www.readbyqxmd.com/read/28269793/proton-magnetic-resonance-spectroscopy-indicates-preserved-cerebral-biochemical-composition-in-duchenne-muscular-dystrophy-patients
#17
Nathalie Doorenweerd, Melissa Hooijmans, Stephanie A Schubert, Andrew G Webb, Chiara S M Straathof, Erik W van Zwet, Mark A van Buchem, Jan J G M Verschuuren, Jos G M Hendriksen, Erik H Niks, Hermien E Kan
BACKGROUND: Duchenne muscular dystrophy (DMD) is caused by the absence of dystrophin. DMD is associated with specific learning and behavioural disabilities. In the brain, dystrophin is associated with GABAA receptors and aquaporin-4 in neurons and astrocytes, respectively, but little is known about its function. OBJECTIVE AND METHODS: In this study we aimed to compare the biochemical composition between patients and healthy controls in brain regions that are naturally rich in dystrophin using magnetic resonance spectroscopy...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28267833/weaknesses-in-lexical-semantic-knowledge-among-college-students-with-specific-learning-disabilities-evidence-from-a-semantic-fluency-task
#18
Jessica Hall, Karla K McGregor, Jacob Oleson
Purpose: The purpose of this study is to determine whether deficits in executive function and lexical-semantic memory compromise the linguistic performance of young adults with specific learning disabilities (LD) enrolled in postsecondary studies. Method: One hundred eighty-five students with LD (n = 53) or normal language development (ND, n = 132) named items in the categories animals and food for 1 minute for each category and completed tests of lexical-semantic knowledge and executive control of memory...
March 1, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28256695/-attention-deficit-hyperactivity-disorder-from-a-neurodevelopmental-perspective
#19
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/28256694/-comparison-between-the-diagnosis-of-attention-deficit-hyperactivity-disorder-with-the-dsm-5-and-neuropsychological-evaluation-of-the-executive-functions
#20
L Abad-Mas, O Caloca-Catala, F Mulas, R Ruiz-Andres
INTRODUCTION: The attention deficit-hyperactivity disorder (ADHD) has a prevalence among 3-7% in scholar population and it is associated with learning disabilities and executive dysfunctions. AIM: To study the relationship between the ADHD diagnostic through DSM-5 criteria and the neuropshychology evaluation of executive functions. SUBJECTS AND METHODS: The sample of this study consisted in 50 subjects, 12 females and 38 males, with an age between 8 and 10 years old...
February 24, 2017: Revista de Neurologia
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