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https://www.readbyqxmd.com/read/28211980/constitutional-bone-impairment-in-noonan-syndrome
#1
Giuseppina Baldassarre, Alessandro Mussa, Diana Carli, Cristina Molinatto, Giovanni Battista Ferrero
Noonan syndrome (NS) is an autosomal dominant trait characterized by genotypic and phenotypic variability. It belongs to the Ras/MAPK pathway disorders collectively named Rasopathies or neurocardiofaciocutaneous syndromes. Phenotype is characterized by short stature, congenital heart defects, facial dysmorphisms, skeletal and ectodermal anomalies, cryptorchidism, mild to moderate developmental delay/learning disability, and tumor predisposition. Short stature and skeletal dysmorphisms are almost constant and several studies hypothesized a role for the RAS pathway in regulating bone metabolism...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28208966/study-of-parental-perceptions-on-health-social-needs-of-children-with-neuro-developmental-disability-and-it-s-impact-on-the-family
#2
Nusrat Jahan Rafique Ansari, Ramchandra Keshav Dhongade, Preeti Sagar Lad, Ashwin Borade, Suvarna Yg, Vishal Yadav, Ashwini Mehetre, Rahul Kulkarni
INTRODUCTION: The term Neuro Developmental Disorder (NDD) is used for conditions caused by a dysfunction in any part of the brain or nervous system, resulting in physical and/or psychological symptoms as a child develops. Family of children with NDD face many problems. It is very important to find them and create awareness so that gaps in essential services and supports can be decreased. AIM: To explore parental perceptions on health & social needs of children with NDD, to understand the impact of disability on the families having children with disability, and to find out the parental perceptions on availability of services for children with NDD and its utilization by families...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28208734/towards-building-a-computer-aided-education-system-for-special-students-using-wearable-sensor-technologies
#3
Raja Majid Mehmood, Hyo Jong Lee
Human computer interaction is a growing field in terms of helping people in their daily life to improve their living. Especially, people with some disability may need an interface which is more appropriate and compatible with their needs. Our research is focused on similar kinds of problems, such as students with some mental disorder or mood disruption problems. To improve their learning process, an intelligent emotion recognition system is essential which has an ability to recognize the current emotional state of the brain...
February 8, 2017: Sensors
https://www.readbyqxmd.com/read/28207675/acculturation-and-self-management-perceptions-among-mexican-american-adults-with-type-2-diabetes
#4
Julie Plasencia, Sharon Hoerr, Marsha Carolan, Lorraine Weatherspoon
Because type 2 diabetes (T2DM) is disproportionately high among Mexican Americans in the United States, this study examined how acculturation influences T2DM self-management, a critical component for disease outcome. Qualitative interviews of 24 low-income Mexican American patients with T2DM were matched to their biomedical and dietary data and degree of acculturation. Greater acculturation to the United States was associated with less favorable diabetes control, fiber density, leisure-time physical activity, and more physical disability...
April 2017: Family & Community Health
https://www.readbyqxmd.com/read/28205296/effects-of-mindfulness-based-intervention-to-improve-task-performance-for-children-with-intellectual-disabilities
#5
Jeongil Kim, Miyoung Kwon
BACKGROUND: Task performance is a critical factor for learning in individuals with intellectual disabilities. This study aimed to examine mindfulness-based intervention (MBI) to improve task performance for children with intellectual disability (ID). METHODS: Three elementary school children with ID participated in the study. A multiple baseline design across subjects was used. The intervention was consisted of "understanding the necessary concept of mindfulness, practice of awareness and attention, and practice focusing on mindful behaviours...
February 16, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28203061/herding-a-new-phenomenon-affecting-medical-decision-making-in-multiple-sclerosis-care-lessons-learned-from-discutir-ms
#6
Gustavo Saposnik, Jorge Maurino, Angel P Sempere, Christian C Ruff, Philippe N Tobler
PURPOSE: Herding is a phenomenon by which individuals follow the behavior of others rather than deciding independently on the basis of their own private information. A herding-like phenomenon can occur in multiple sclerosis (MS) when a neurologist follows a therapeutic recommendation by a colleague even though it is not supported by best practice clinical guidelines. Limited information is currently available on the role of herding in medical care. The objective of this study was to determine the prevalence (and its associated factors) of herding in the management of MS...
2017: Patient Preference and Adherence
https://www.readbyqxmd.com/read/28202057/improvement-of-memory-and-learning-by-intracerebroventricular-microinjection-of-t3-in-rat-model-of-ischemic-brain-stroke-mediated-by-upregulation-of-bdnf-and-gdnf-in-ca1-hippocampal-region
#7
Tahmineh Mokhtari, Mohammad Akbari, Fatemeh Malek, Iraj Ragerdi Kashani, Tayebeh Rastegar, Farshid Noorbakhsh, Mahmoud Ghazi-Khansari, Fatemeh Attari, Gholamreza Hassanzadeh
BACKGROUND: Ischemic stroke is a common leading cause of death and disability with lack of effective therapies. In this study, T3 was intra-ventricularly injected to evaluate gene expression and protein concentration of and brain-derived neurotrophic factor (BDNF) and Glial cell-derived neurotrophic factor (GDNF) in hippocampal CA1 region in rat model of brain ischemia/reperfusion (I/R). METHODS: In this study, transient middle cerebral artery occlusion (tMCAo) was used as model of ischemic brain stroke...
February 15, 2017: Daru: Journal of Faculty of Pharmacy, Tehran University of Medical Sciences
https://www.readbyqxmd.com/read/28199175/sequential-prediction-of-literacy-achievement-for-specific-learning-disabilities-contrasting-in-impaired-levels-of-language-in-grades-4-to-9
#8
Elizabeth A Sanders, Virginia W Berninger, Robert D Abbott
Sequential regression was used to evaluate whether language-related working memory components uniquely predict reading and writing achievement beyond cognitive-linguistic translation for students in Grades 4 through 9 ( N = 103) with specific learning disabilities (SLDs) in subword handwriting (dysgraphia, n = 25), word reading and spelling (dyslexia, n = 60), or oral and written language (oral and written language learning disabilities, n = 18). That is, SLDs are defined on the basis of cascading level of language impairment (subword, word, and syntax/text)...
February 1, 2017: Journal of Learning Disabilities
https://www.readbyqxmd.com/read/28198306/widespread-abuse-of-adults-with-learning-disabilities
#9
Stephanie Jones-Berry
Thousands of adults with learning disabilities in England may have been sexually abused in the past two years, figures obtained by Nursing Standard suggest.
February 15, 2017: Nursing Standard
https://www.readbyqxmd.com/read/28198067/verbal-spatial-iq-discrepancies-impact-brain-activation-associated-with-the-resolution-of-cognitive-conflict-in-children-and-adolescents
#10
Amy E Margolis, Katie S Davis, Lisa S Pao, Amy Lewis, Xiao Yang, Gregory Tau, Guihu Zhao, Zhishun Wang, Rachel Marsh
Verbal-spatial discrepancies are common in healthy individuals and in those with neurodevelopmental disorders associated with cognitive control deficits including: Autism Spectrum Disorder, Non-Verbal Learning Disability, Fragile X, 22q11 deletion, and Turner Syndrome. Previous data from healthy individuals suggest that the magnitude of the difference between verbal IQ (VIQ) and performance IQ (PIQ) scores (the VIQ>PIQ discrepancy) is associated with reduced thickness in frontal and parietal cortices (inferior frontal, anterior cingulate, inferior parietal lobule, and supramarginal gyrus) that support cognitive control...
February 15, 2017: Developmental Science
https://www.readbyqxmd.com/read/28195318/biallelic-loss-of-function-variants-in-dock3-cause-muscle-hypotonia-ataxia-and-intellectual-disability
#11
Katherine L Helbig, Cameron Mroske, Divya Moorthy, Samin A Sajan, Milen Velinov
DOCK3 encodes the dedicator of cytokinesis 3 protein, a member of the DOCK180 family of proteins that are characterized by guanine nucleotide exchange factor activity. DOCK3 is expressed exclusively in the central nervous system and plays an important role in axonal outgrowth and cytoskeleton reorganization. Dock3 knockout mice exhibit motor deficiencies with abnormal ataxic gait and impaired learning. We report two siblings with biallelic loss-of-function variants in DOCK3. Diagnostic whole exome sequencing and chromosomal microarray were performed on a proband with severe intellectual disability, hypotonia, and ataxic gait...
February 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28190914/neuroanatomy-of-handwriting-and-related-reading-and-writing-skills-in-adults-and-children-with-and-without-learning-disabilities-french-american-connections
#12
Marieke Longcamp, Todd L Richards, Jean-Luc Velay, Virginia W Berninger
In this article, we present recent neuroimaging studies performed to identify the neural network involved in handwriting. These studies, carried out in adults and in children, suggest that the mastery of handwriting is based on the involvement of a network of brain structures whose involvement and inter-connection are specific to writing alphabet characters. This network is built upon the joint learning of writing and reading and depends on the level of expertise of the writer. In addition, a part of this graphomotor network is also brought into play during the identification letters during visual reading...
December 2016: Pratiques
https://www.readbyqxmd.com/read/28188113/improving-nutrition-students-knowledge-and-perceived-competence-to-provide-nutrition-education-to-adults-with-disabilities-via-experiential-learning
#13
Sandra Baker, Jillian Trabulsi, Taylor Evans, Elizabeth Smith
No abstract text is available yet for this article.
February 7, 2017: Journal of the Academy of Nutrition and Dietetics
https://www.readbyqxmd.com/read/28186943/wordless-intervention-for-people-with-epilepsy-and-learning-disabilities-wield-a-randomised-controlled-feasibility-trial
#14
Silvana E Mengoni, Bob Gates, Georgina Parkes, David Wellsted, Garry Barton, Howard Ring, Mary Ellen Khoo, Deela Monji-Patel, Karin Friedli, Asif Zia, Lisa Irvine, Marie-Anne Durand
OBJECTIVE: To investigate the feasibility of a full-scale randomised controlled trial of a picture booklet to improve quality of life for people with epilepsy and learning disabilities. TRIAL DESIGN: A randomised controlled feasibility trial. Randomisation was not blinded and was conducted using a centralised secure database and a blocked 1:1 allocation ratio. SETTING: Epilepsy clinics in 1 English National Health Service (NHS) Trust. PARTICIPANTS: Patients with learning disabilities and epilepsy who had: a seizure within the past 12 months, meaningful communication and a carer with sufficient proficiency in English...
November 10, 2016: BMJ Open
https://www.readbyqxmd.com/read/28186713/fetal-alcohol-research-caring-for-patients-with-prenatal-alcohol-exposure-a-needs-assessment
#15
Vincent C Smith, Phillip Matthias, Yasmin N Senturias, Renee M Turchi, Janet F Williams
BACKGROUND: Prenatal alcohol exposure (PAE) is the United States' most common preventable cause of birth defects and intellectual and developmental disabilities collectively referred to as Fetal Alcohol Spectrum Disorders (FASD). OBJECTIVES: This study was designed to identify gaps in pediatric providers' knowledge and practices regarding FASD patient identification, diagnosis, management and referral, and to inform needs-based FASD resource development. METHODS: Pediatric providers (pediatricians, trainees, nurse practitioners) were exposed to survey links embedded in newsletters electronically distributed to the membership of two national professional societies...
January 27, 2017: Journal of Population Therapeutics and Clinical Pharmacology
https://www.readbyqxmd.com/read/28184079/academic-performance-of-undergraduate-dental-students-with-learning-disabilities
#16
K Ali, D Zahra, C Coelho, G Jones, C Tredwin
Aims To compare the academic performance of undergraduate dental students with known learning disabilities (LDs) to their peers.Methods This study analysed the results of students in applied dental knowledge (ADK) progress tests across four cohorts of dental students. A mixed model analysis of variance (ANOVA) was conducted to compare the performance of students with known disability to their peers. ADK test sitting was treated as a repeated measures variable, and the outcome variable of interest was percentage score on the ADK...
February 10, 2017: British Dental Journal
https://www.readbyqxmd.com/read/28181888/use-of-a-udl-literacy-environment-by-middle-school-students-with-intellectual-and-developmental-disabilities
#17
Peggy Coyne, Miriam Evans, Joanne Karger
Universal Design for Learning (UDL) has been shown to have benefits for students with disabilities. However, little is known about its potential to support literacy for students with intellectual and developmental disabilities (IDD). This qualitative study explored (a) to what extent students with IDD are able to use Udio, an online UDL literacy environment; and (b) how students with IDD experienced and perceived Udio. A grounded theory approach was used to analyze classroom observations, as well as teacher and student interviews...
February 2017: Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/28181887/applying-the-universal-design-for-learning-framework-for-individuals-with-intellectual-disability-the-future-must-be-now
#18
Sean J Smith, K Alisa Lowrey
The current research in Universal Design for Learning (UDL) for students with intellectual disability (ID) is briefly summarized and considered in light of the national goals presented by the American Association on Intellectual and Developmental Disabilities (AAIDD) in this article. Additionally, an action plan is provided for researchers and practitioners to extend knowledge on the implementation of the UDL framework inclusive of individuals with ID.
February 2017: Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/28181886/udl-and-intellectual-disability-what-do-we-know-and-where-do-we-go
#19
Kavita Rao, Sean J Smith, K Alisa Lowrey
As an instructional design framework that can be used to design curriculum for students with and without disabilities, Universal Design for Learning (UDL) has the potential to support meaningful inclusion of students with intellectual disability (ID) in general educational settings. This article presents an overview of the existing set of research studies on UDL application for students with ID in PreK-12 settings. The current body of research illustrates that UDL is being applied to instructional activities for students with ID to examine a variety of interventions (e...
February 2017: Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/28181885/a-closer-look-examining-teachers-language-around-udl-inclusive-classrooms-and-intellectual-disability
#20
K Alisa Lowrey, Aleksandra Hollingshead, Kathy Howery
The purpose of this study was to examine the language teachers used to discuss inclusion, Universal Design for Learning (UDL), and learners with intellectual disability (ID) in an effort to better understand how teachers describe the relationship between those three. Utilizing a secondary analysis procedure, interview transcripts from seven general education teachers were reanalyzed to identify language used by teachers to refer to inclusive educational settings, the implementation of UDL, and learners with intellectual disability...
February 2017: Intellectual and Developmental Disabilities
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