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https://www.readbyqxmd.com/read/28236296/different-types-of-dietary-advice-for-women-with-gestational-diabetes-mellitus
#1
REVIEW
Shanshan Han, Philippa Middleton, Emily Shepherd, Emer Van Ryswyk, Caroline A Crowther
BACKGROUND: Dietary advice is the main strategy for managing gestational diabetes mellitus (GDM). It remains unclear what type of advice is best. OBJECTIVES: To assess the effects of different types of dietary advice for women with GDM for improving health outcomes for women and babies. SEARCH METHODS: We searched Cochrane Pregnancy and Childbirth's Trials Register (8 March 2016), PSANZ's Trials Registry (22 March 2016) and reference lists of retrieved studies...
February 25, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28210315/news
#2
REVIEW
(no author information available yet)
Rare diseases are defined by a limited prevalence of ≤5 cases per 10 000 individuals in Europe [1]. This definition includes around 8000 diseases, many of which are unknown not only to the public but also to the vast majority of healthcare professionals and text books. It is estimated that, as a whole, rare diseases affect around 25 to 30 million people in Europe. Most rare diseases are chronic and debilitating and appear in early childhood or young adulthood, accounting for a significant proportion of infant mortality and childhood/life-long disability...
December 2016: Breathe
https://www.readbyqxmd.com/read/28199897/real-world-utility-of-whole-exome-sequencing-with-targeted-gene-analysis-for-focal-epilepsy
#3
Piero Perucca, Ingrid E Scheffer, A Simon Harvey, Paul A James, Sebastian Lunke, Natalie Thorne, Clara Gaff, Brigid M Regan, John A Damiano, Michael S Hildebrand, Samuel F Berkovic, Terence J O'Brien, Patrick Kwan
OBJECTIVE: Driven by advances in genomic technology and reduction in costs, next-generation sequencing (NGS) is venturing into routine clinical care. The 'real-world' clinical utility of NGS remains to be determined in focal epilepsies, which account for 60% of all epilepsies and for which the importance of genetic factors is just beginning to emerge. We investigated the diagnostic yield and management implications of whole exome sequencing (WES)-based screening of selected genes in the routine care of common focal epilepsies suspected to have a genetic basis...
February 7, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28198067/verbal-spatial-iq-discrepancies-impact-brain-activation-associated-with-the-resolution-of-cognitive-conflict-in-children-and-adolescents
#4
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/28196317/common-skin-conditions-in-children-noninfectious-rashes
#5
Brian Z Rayala, Dean S Morrell
Cutaneous adverse drug reactions are among the most common noninfectious rashes of childhood. Cutaneous adverse drug reactions are classified as morbilliform, urticarial, bullous, pustular, or psoriasiform. Atopic dermatitis is one of the most common inflammatory cutaneous eruptions, and is characterized by pruritus and flexural distribution. Emollients and topical corticosteroids are first-line therapies. Topical calcineurin inhibitors are second-line, steroid-sparing drugs for certain conditions, such as face and eyelid eczema...
February 2017: FP Essentials
https://www.readbyqxmd.com/read/28183307/development-and-validation-of-an-early-childhood-development-scale-for-use-in-low-resourced-settings
#6
Dana Charles McCoy, Christopher R Sudfeld, David C Bellinger, Alfa Muhihi, Geofrey Ashery, Taylor E Weary, Wafaie Fawzi, Günther Fink
BACKGROUND: Low-cost, cross-culturally comparable measures of the motor, cognitive, and socioemotional skills of children under 3 years remain scarce. In the present paper, we aim to develop a new caregiver-reported early childhood development (ECD) scale designed to be implemented as part of household surveys in low-resourced settings. METHODS: We evaluate the acceptability, test-retest reliability, internal consistency, and discriminant validity of the new ECD items, subscales, and full scale in a sample of 2481 18- to 36-month-old children from peri-urban and rural Tanzania...
February 9, 2017: Population Health Metrics
https://www.readbyqxmd.com/read/28182669/a-de-novo-loss-of-function-grin2a-mutation-associated-with-childhood-focal-epilepsy-and-acquired-epileptic-aphasia
#7
Kai Gao, Anel Tankovic, Yujia Zhang, Hirofumi Kusumoto, Jin Zhang, Wenjuan Chen, Wenshu XiangWei, Gil H Shaulsky, Chun Hu, Stephen F Traynelis, Hongjie Yuan, Yuwu Jiang
OBJECTIVE: N-methyl-D-aspartate receptors (NMDAR) subunit GRIN2A/GluN2A mutations have been identified in patients with various neurological diseases, such as epilepsy and intellectual disability / developmental delay (ID/DD). In this study, we investigated the phenotype and underlying molecular mechanism of a GRIN2A missense mutation identified by next generation sequencing on idiopathic focal epilepsy using in vitro electrophysiology. METHODS: Genomic DNA of patients with epilepsy and ID/DD were sequenced by targeted next-generation sequencing within 300 genes related to epilepsy and ID/DD...
2017: PloS One
https://www.readbyqxmd.com/read/28180930/life-course-persistent-and-adolescence-limited-conduct-disorder-in-a-nationally-representative-us-sample-prevalence-predictors-and-outcomes
#8
Ashlee A Moore, Judy L Silberg, Roxann Roberson-Nay, Briana Mezuk
PURPOSE: The course of conduct disorder (CD) is heterogeneous. Moffitt proposed the heuristic of life course persistent (LCP) and adolescence limited (AL) to differentiate etiologically distinct forms of antisocial behavior (AB), each with distinct predictors and consequences, although a few studies have assessed this demarcation within the context of CD. The objective of this study was to apply Moffitt's taxonomy in a nationally representative US sample to investigate the prevalence, predictors, and outcomes of LCP and AL CD...
February 8, 2017: Social Psychiatry and Psychiatric Epidemiology
https://www.readbyqxmd.com/read/28178333/a-comprehensive-approach-to-understand-somatic-symptoms-and-their-impact-on-emotional-and-psychosocial-functioning-in-children
#9
Rita Cerutti, Valentina Spensieri, Carmela Valastro, Fabio Presaghi, Roberto Canitano, Vincenzo Guidetti
INTRODUCTION: Somatic symptoms are frequently reported by children with significant impairment in functioning. Despite studies on adult populations that suggest somatic symptoms often co-occur with difficulties in identifying and describing feelings, little research has been done in childhood. This study aimed to investigate the prevalence and frequency of somatic symptoms as well as to investigate the functional impairment in children with high number of self reported somatic symptoms versus those with fewer somatic symptoms...
2017: PloS One
https://www.readbyqxmd.com/read/28163986/neurobiologically-based-treatments-in-rett-syndrome-opportunities-and-challenges
#10
REVIEW
Walter E Kaufmann, Jennifer L Stallworth, David B Everman, Steven A Skinner
Introduction: Rett syndrome (RTT) is an X-linked neurodevelopmental disorder that primarily affects females, typically resulting in a period of developmental regression in early childhood followed by stabilization and severe chronic cognitive, behavioral, and physical disability. No known treatment exists beyond symptomatic management, and while insights into the genetic cause, pathophysiology, neurobiology, and natural history of RTT have been gained, many challenges remain. Areas covered: Based on a comprehensive survey of the primary literature on RTT, this article describes and comments upon the general and unique features of the disorder, genetic and neurobiological bases of drug development, and the history of clinical trials in RTT, with an emphasis on drug trial design, outcome measures, and implementation...
October 2, 2016: Expert Opinion on Orphan Drugs
https://www.readbyqxmd.com/read/28157786/campylobacter-jejuni-and-associated-immune-mechanisms-short-term-effects-and-long-term-implications-for-infants-in-low-income-countries
#11
Amanda E Schnee, William A Petri
PURPOSE OF REVIEW: Campylobacter jejuni is recognized as one of the most common causes of food-borne gastrointestinal illness worldwide, resulting in a self-limiting dysentery in developed countries. However, it is increasingly gaining attention due to its association with postinfectious complications such as Guillain-Barré Syndrome and recently recognized importance in early childhood diarrhea in developing countries. We hypothesize that the inflammation mediated by C. jejuni infection causes environmental enteric dysfunction, and with contribution from diet and the host, microbiome may be responsible for growth faltering in children and developmental disability...
February 2, 2017: Current Opinion in Infectious Diseases
https://www.readbyqxmd.com/read/28135894/infantile-serine-biosynthesis-defect-due-to-phosphoglycerate-dehydrogenase-deficiency-variability-in-phenotype-and-treatment-response-novel-mutations-and-diagnostic-challenges
#12
Paul J Benke, Ryan J Hidalgo, Bruce H Braffman, Judith Jans, Koen L I van Gassen, Rawda Sunbul, Ayman W El-Hattab
Serine biosynthesis defects can present in a broad phenotypic spectrum ranging from Neu-Laxova syndrome, a lethal disease with multiple congenital anomalies at the severe end, to an infantile disease with severe psychomotor retardation and seizures as an intermediate phenotype, to a childhood disease with intellectual disability at the mild end. In this report we present 6 individuals from 3 families with infantile phosphoglycerate dehydrogenase (PGDH) deficiency who presented with psychomotor delay, growth failure, microcephaly, and spasticity...
1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28135626/increased-risk-for-mental-illness-injuries-and-violence-in-children-born-to-mothers-with-intellectual-disability-a-register-study-in-sweden-during-1999-2012
#13
Maria Wickström, Berit Höglund, Margareta Larsson, Maria Lundgren
Several studies have demonstrated that mothers with intellectual disability (ID) have a higher prevalence of mental health illness, lower socio-economic status, and a higher risk of alcohol and drug use compared to mothers without ID. The children of mothers with ID are over-represented in child protection and legal proceedings but are generally a less studied group than the mothers. The aim of this study was to investigate if children born to mothers with ID had an increased risk of being diagnosed with mental illness, injuries, and violence compared with children of mothers without ID...
January 27, 2017: Child Abuse & Neglect
https://www.readbyqxmd.com/read/28133634/idea-units-in-notes-and-summaries-for-read-texts-by-keyboard-and-pencil-in-middle-childhood-students-with-specific-learning-disabilities-cognitive-and-brain-findings
#14
Todd Richards, Stephen Peverly, Amie Wolf, Robert Abbott, Steven Tanimoto, Rob Thompson, William Nagy, Virginia Berninger
Seven children with dyslexia and/or dysgraphia (2 girls, 5 boys, M=11 years) completed fMRI connectivity scans before and after twelve weekly computerized lessons in strategies for reading source material, taking notes, and writing summaries by touch typing or groovy pencils. During brain scanning they completed two reading comprehension tasks-one involving single sentences and one involving multiple sentences. From before to after intervention, fMRI connectivity magnitude changed significantly during sentence level reading comprehension (from right angular gyrus→right Broca's) and during text level reading comprehension (from right angular gyrus→cingulate)...
September 2016: Trends in Neuroscience and Education
https://www.readbyqxmd.com/read/28131202/clinical-and-genetic-studies-in-patients-with-lafora-disease-from-pakistan
#15
Arsalan Ahmad, Rubina Dad, Muhammad Ikram Ullah, Tahir Ahmed Baig, Imran N Ahmad, Abdul Nasir, Christian A Hübner, Muhammad Jawad Hassan
Lafora disease (LD) is progressive myoclonic epilepsy with late childhood- to teenage-onset. Mutations in two genes, EPM2A and NHLRC1, are responsible for this autosomal recessive disease in many patients Worldwide. In present study, we reported two unrelated consanguineous Pakistani families with Lafora disease (Families A and B). Affected individuals in both families presented with generalized tonic clonic seizures, intellectual disability, ataxia and cognitive decline. Diagnosis of Lafora disease was made on histo-pathological analysis of the skin biopsy, found positive for lafora bodies in periodic acid schiff stain and frequent generalized epileptiform discharges on electroencephalogram (EEG)...
February 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28123174/new-diagnosis-of-atypical-ataxia-telangiectasia-in-a-17-year-old-boy-with-t-cell-acute-lymphoblastic-leukemia-and-a-novel-atm-mutation
#16
Jasmin Roohi, Jennifer Crowe, Denis Loredan, Kwame Anyane-Yeboa, Mahesh M Mansukhani, Lenore Omesi, Jennifer Levine, Anya Revah Politi, Shan Zha
Ataxia-telangiectasia (A-T) is an autosomal recessive chromosome breakage disorder caused by mutations in the ATM gene. Typically, it presents in early childhood with progressive cerebellar dysfunction along with immunodeficiency and oculocutaneous telangiectasia. An increased risk of malignancy is also associated with the syndrome and, rarely, may be the presenting feature in small children. We describe a 17-year-old boy with slurred speech, mild motor delays and learning disability diagnosed with atypical A-T in the setting of T-cell acute lymphoblastic leukemia...
January 26, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28120427/oral-anti-diabetic-pharmacological-therapies-for-the-treatment-of-women-with-gestational-diabetes
#17
REVIEW
Julie Brown, Ruth Martis, Brenda Hughes, Janet Rowan, Caroline A Crowther
BACKGROUND: Gestational diabetes mellitus (GDM) is a major public health issue with rates increasing globally. Gestational diabetes, glucose intolerance first recognised during pregnancy, usually resolves after birth and is associated with short- and long-term complications for the mother and her infant. Treatment options can include oral anti-diabetic pharmacological therapies. OBJECTIVES: To evaluate the effects of oral anti-diabetic pharmacological therapies for treating women with GDM...
January 25, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28114601/risk-of-psychiatric-disorders-among-individuals-with-the-22q11-2-deletion-or-duplication-a-danish-nationwide-register-based-study
#18
Louise K Hoeffding, Betina B Trabjerg, Line Olsen, Wiktor Mazin, Thomas Sparsø, Anders Vangkilde, Preben B Mortensen, Carsten B Pedersen, Thomas Werge
Importance: Microdeletions and duplications have been described at the 22q11.2 locus. However, little is known about the clinical and epidemiologic consequences at the population level. Objective: To identify indicators of deletions or duplications at the 22q11.2 locus and estimate the incidence rate ratios (IRRs) and absolute risk for psychiatric disorders in clinically identified individuals with 22q11.2 deletion or duplication. Design, Setting, and Participants: A Danish nationwide register study including all individuals recorded in the Danish Cytogenetic Central Register with a 22q11...
January 18, 2017: JAMA Psychiatry
https://www.readbyqxmd.com/read/28103495/emotion-socialization-and-internalizing-behavior-problems-in-diverse-youth-a-bidirectional-relationship-across-childhood
#19
Naomi V Rodas, Denise A Chavira, Bruce L Baker
Mothers' and fathers' emotion socialization (ES) practices have been widely associated with child socioemotional outcomes. To extend this research, we examined the bidirectional relationship between parent ES practices (supportive and non-supportive parenting) and internalizing behavior problems in children of Anglo and Latino parents. Participants were 182 mothers and 162 fathers and their children with or without intellectual disability (ID). We compared the stability of mother and father ES practices across child ages 4-8...
March 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28100557/dual-sensory-impairment-in-special-schools-in-south-eastern-nigeria
#20
Ada E Aghaji, Richard Bowman, Vincent C Ofoegbu, Andrew Smith
In a cross-sectional study to determine the magnitude of dual sensory impairment (DSI-combined hearing and vision loss) in children in single-disability special education schools, children in schools for the blind and schools for the deaf in four states in South-East Nigeria were examined by an ophthalmologist and otorhinolaryngologist to determine the level of their disability and to identify other disabilities if any. Participants were all students with childhood blindness or childhood deafness. The magnitude and causes of DSI and the burden of undetected DSI were the main outcome measures...
February 2017: Archives of Disease in Childhood
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