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https://www.readbyqxmd.com/read/28549150/primary-congenital-and-developmental-glaucomas
#1
Carly Lewis, Adam Hedberg-Buenz, Adam P DeLuca, Edwin M Stone, Wallace L M Alward, John H Fingert
Glaucoma is the leading cause of irreversible blindness worldwide. Although most glaucoma patients are elderly, congenital glaucoma and glaucomas of childhood are also important causes of visual disability. Primary congenital glaucoma (PCG) is isolated, non-syndromic glaucoma that occurs in the first three years of life and is a major cause of childhood blindness. Other early-onset glaucomas may arise secondary to developmental abnormalities, such as glaucomas that occur with aniridia or as part of Axenfeld-Rieger syndrome...
May 26, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28545339/increased-survival-and-partly-preserved-cognition-in-a-patient-with-aco2-related-disease-secondary-to-a-novel-variant
#2
Siddharth Srivastava, Cynthia S Gubbels, Kira Dies, Anne Fulton, Timothy Yu, Mustafa Sahin
ACO2 encodes aconitase 2, catalyzing the second step of the tricarboxylic acid. To date, there are only 6 reported families with 5 unique ACO2 mutations. Affected individuals can develop intellectual disability, epilepsy, brain atrophy, hypotonia, ataxia, optic atrophy, and retinal degeneration. Here, we report an 18-year-old boy with a novel ACO2 variant discovered on whole-exome sequencing. He presented with childhood-onset ataxia, impaired self-help skills comparable to severe-profound intellectual disability, intractable epilepsy, cerebellar atrophy, peripheral neuropathy, optic atrophy, and pigmentary retinopathy...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28544954/long-term-attention-deficits-combined-with-subcortical-and-cortical-structural-central-nervous-system-alterations-in-young-adults-born-small-for-gestational-age
#3
Sabrina Suffren, Diego Angulo, Yang Ding, Pablo Reyes, Jorge Marin, Jose T Hernandez, Nathalie Charpak, Gregory A Lodygensky
BACKGROUND: Being born small for gestational age has been associated with neurodevelopmental disabilities and smaller gray matter volumes in childhood. However, it is not known if these changes persist in adults and whether SGA has any impact on attention memory and IQ. AIMS: The goal of this study was to evaluate the association between birth weight and gray matter anatomy in adults born small for gestational age at term, in relation to IQ, attention and memory...
May 22, 2017: Early Human Development
https://www.readbyqxmd.com/read/28543434/metastatic-squamous-cell-carcinoma-in-a-patient-with-disabling-pansclerotic-morphea-of-childhood
#4
Juan M Ruiz-Matta, Luis R Flores-Bozo, Judith Dominguez-Cherit
Disabling pansclerotic morphea of childhood (DPMC) is a rare disorder that confers a risk of developing ulcer-related squamous cell carcinoma (SCC). We describe a young man with long-standing DPMC and SCC with lung metastasis.
May 23, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28534860/hemophilia-care-in-the-pediatric-age
#5
REVIEW
Marta Bertamino, Francesca Riccardi, Laura Banov, Johanna Svahn, Angelo Claudio Molinari
Hemophilia is the most common of the severe bleeding disorders and if not properly managed since early infancy can lead to chronic disease and lifelong disabilities. However, it enjoys the most efficacious and safe treatment among the most prevalent monogenic disorders. Hemophilia should be considered in the neonatal period in the case of unusual bleeding or in the case of positive family history. Later, hemophilia should be suspected mainly in males because of abnormal bruising/bleeding or unusual bleeding following invasive procedures-for example, tonsillectomy or circumcision...
May 19, 2017: Journal of Clinical Medicine
https://www.readbyqxmd.com/read/28533195/de-novo-8p23-1-deletion-in-a-patient-with-absence-epilepsy
#6
Nihan Hande Akcakaya, Özlem Yalcin Capan, Herbert Schulz, Thomas Sander, Server Hande Caglayan, Zuhal Yapıcı
The 8p23.1 deletion syndrome is a rare multisystem disorder with high penetrance and a variable phenotypic spectrum that includes congenital heart disease (CHD), intellectual disability, behavioural problems, microcephalia, and sometimes epilepsy. Genomic copy number variations (CNVs) constitute an important genetic risk factor for common genetic generalised epilepsy syndromes (GGEs) and absence seizures. These variations, resulting either from copy loss (microdeletion) or copy gain (duplications), disrupt genes associated with neuronal development...
May 22, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28529493/improving-learning-outcomes-the-ipad-and-preschool-children-with-disabilities
#7
Linda Chmiliar
The digital age has reached early childhood, and the use of touch screens by young children is common place. Research on the use of touch screen tablets with young children is becoming more prevalent; however, less information is available on the use of touch screen tablets to support young children with disabilities. Touch screen tablets may offer possibilities to preschool children with disabilities to participate in learning in a digital way. The iPad provides easy interaction on the touch screen and access to a multitude of engaging early learning applications...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28525774/development-and-validation-of-a-physical-model-to-investigate-the-biomechanics-of-infant-head-impact
#8
M Jones, D Darwall, G Khalid, R Prabhu, A Kemp, O Arthurs, P Theobald
Head injury in childhood is the single most common cause of death or permanent disability from injury. However, despite its frequency and significance, there is little understanding of the response of a child's head to injurious loading. This is a significant limitation when making early diagnoses, informing clinical and/or forensic management or injury prevention strategies. With respect to impact vulnerability, current understanding is predominantly based on a few post-mortem-human-surrogate (PMHS) experiments...
April 13, 2017: Forensic Science International
https://www.readbyqxmd.com/read/28525611/adverse-childhood-experiences-and-higher-level-functional-limitations-among-older-japanese-people-results-from-the-jages-study
#9
Airi Amemiya, Takeo Fujiwara, Hiroshi Murayama, Yukako Tani, Katsunori Kondo
Background.: A life-course perspective is essential in understanding the determinants of higher-level functional limitations. We examine the impact of adverse childhood experiences (ACEs) on higher-level functional limitations in older people. Methods.: Data were from the Japan Gerontological Evaluation Study 2013, a population-based cohort of independent people aged 65 years or older across Japan (n = 19,220). ACEs before the age of 18 were assessed in terms of seven adversities: parental death, parental divorce, parental mental illness, family violence, physical abuse, psychological neglect, and psychological abuse...
May 19, 2017: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/28523196/neoplasia-in-cri-du-chat-syndrome-from-italian-and-german-databases
#10
Andrea Guala, Marianna Spunton, Silvia Kalantari, Ingo Kennerknecht, Cesare Danesino
Cri du Chat syndrome (CdC) is a chromosomal abnormality (deletion of short arm of chromosome 5) associated with intellectual disability and typical anatomical abnormalities. Research up to now focuses on the management of the disease during childhood. The longer lifespan of these patients warrants deeper investigations of how and if aging could be affected by the syndrome. We decided to focus on the association of the disease with proliferative disorders. Data on proliferative disorders in a cohort of 321 patients from Italian and German Cri du Chat databases were collected...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28514476/mary-s-case-an-illustration-of-interprofessional-collaborative-practice-for-a-child-with-severe-disabilities
#11
Billy T Ogletree, Nancy Brady, Susan Bruce, Evan Dean, MaryAnn Romski, Lorraine Sylvester, David Westling
Purpose: The principles of interprofessional collaborative practice (IPCP) are illustrated through the case of Mary, a child with severe disabilities. Method: Mary's experiences from early childhood to young adulthood are highlighted by both optimal and less-than-ideal examples of clinical services and collaborative practice. The range of collaboration illustrates potential variations in service delivery. Thematic comments and resources are provided by professionals experienced with and committed to IPCP who represent the following four disciplines: occupational therapy, physical therapy, special education, and speech-language pathology...
May 17, 2017: American Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/28506485/surgery-for-dysembryoplastic-neuroepithelial-tumors-and-gangliogliomas-in-eloquent-areas-functional-results-and-seizure-control
#12
B Devaux, F Chassoux, E Landré, B Turak, A Laurent, M Zanello, C Mellerio, P Varlet
INTRODUCTION: Dysembryoplastic neuroepithelial tumors and gangliogliomas are developmental glioneuronal tumors usually revealed by partial epilepsy. High epileptogenicity, childhood epilepsy onset, drug-resistance, temporal location, and seizure freedom after complete resection are common characteristics of both tumors. We report the specificity of surgical management, functional results and seizure outcome in cases of a tumor location in eloquent areas. METHODS: Among 150 patients (88 males, 3-55 years) operated on for refractory epilepsy due to a glioneuronal tumor (1990-2015), 30 (20%, dysembryoplastic neuroepithelial tumors=21; gangliogliomas=9) had a tumor located in an eloquent cortex (sensory-motor, insular or language areas)...
May 12, 2017: Neuro-Chirurgie
https://www.readbyqxmd.com/read/28504510/-guide-for-monitoring-children-s-development-in-pediatric-practice
#13
(no author information available yet)
The pediatrician is the best-informed professional to whom many families look to be the expert, not only on childhood illnesses but also on development. Early identification, diagnosis and monitoring of these patients are a real challenge for physicians who serve children. This guide provides recommendations for development monitoring, evaluation, diagnosis and follow up of patients with developmental delays and disabilities.
June 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28503110/pediatric-mania-the-controversy-between-euphoria-and-irritability
#14
Giulia Serra, Mai Uchida, Claudia Battaglia, Maria Pia Casini, Lavinia De Chiara, Joseph Biederman, Stefano Vicari, Janet Wozniak
Pediatric Bipolar Disorder (BD) is a highly morbid pediatric psychiatric disease, consistently associated with family psychiatric history of mood disorders and associated with high levels of morbidity and disability and with a great risk of suicide. While there is a general consensus on the symptomatology of depression in childhood, the phenomenology of pediatric mania is still highly debated and the course and long-term outcome of pediatric BD still need to be clarified. We reviewed the available studies on the phenomenology of pediatric mania with the aim of summarizing the prevalence, demographics, clinical correlates and course of these two types of pediatric mania...
April 2017: Current Neuropharmacology
https://www.readbyqxmd.com/read/28491920/association-of-lead-levels-and-cerebral-palsy
#15
Neha Bansal, Anju Aggarwal, M M A Faridi, Tusha Sharma, B D Baneerjee
Background: Cerebral palsy is a common motor disability in childhood. Raised lead levels affect cognition. Children with cerebral palsy may have raised lead levels, further impairing their residual cognitive motor and behavioral abilities. Environmental exposure and abnormal eating habits may lead to increased lead levels. Aims and Objectives: To measure blood lead levels in children with cerebral palsy and compare them with healthy neurologically normal children. To correlate blood lead levels with environmental factors...
2017: Global Pediatric Health
https://www.readbyqxmd.com/read/28486224/long-term-neuropathological-changes-associated-with-cerebral-palsy-in-a-nonhuman-primate-model-of-hypoxic-ischemic-encephalopathy
#16
Ryan M McAdams, Bobbi Fleiss, Christopher Traudt, Leslie Schwendimann, Jessica M Snyder, Robin L Haynes, Niranjana Natarajan, Pierre Gressens, Sandra E Juul
BACKGROUND: Cerebral palsy (CP) is the most common motor disability in childhood, with a worldwide prevalence of 1.5-4/1,000 live births. Hypoxic-ischemic encephalopathy (HIE) contributes to the burden of CP, but the long-term neuropathological findings of this association remain limited. METHODOLOGY: Thirty-four term Macaca nemestrina macaques were included in this long-term neuropathological study: 9 control animals delivered by cesarean section and 25 animals with perinatal asphyxia delivered by cesarean section after 15-18 min of umbilical cord occlusion (UCO)...
May 10, 2017: Developmental Neuroscience
https://www.readbyqxmd.com/read/28485850/child-and-parent-reported-quality-of-life-trajectories-in-children-with-epilepsy-a-prospective-cohort-study
#17
Mark A Ferro, Lisa Avery, Nora Fayed, David L Streiner, Charles E Cunningham, Michael H Boyle, Lucyna Lach, Gina Glidden, Peter L Rosenbaum, Gabriel M Ronen
OBJECTIVE: To describe the developmental trajectories of quality of life (QoL) in a large cohort of children with epilepsy, and to assess the relative contribution of clinical, psychosocial, and sociodemographic variables on QoL trajectories. METHODS: Five assessments during a 28-month prospective cohort study were used to model trajectories of QoL. Participants were recruited with their parents from six Canadian tertiary centers. A convenience sample of 506 children aged 8-14 years with epilepsy and without intellectual disability or autism spectrum disorder were enrolled...
May 9, 2017: Epilepsia
https://www.readbyqxmd.com/read/28483756/drowning-fatalities-in-childhood-the-role-of-pre-existing-medical-conditions
#18
Richard C Franklin, John H Pearn, Amy E Peden
OBJECTIVES: This study is an analysis of the contribution of pre-existing medical conditions to unintentional fatal child (0-14 years) drowning and a of critique prevention stratagems, with an exploration of issues of equity in recreation. DESIGN: This study is a total population, cross-sectional audit of all demographic, forensic and on-site situational details surrounding unintentional fatal drowning of children 0-14 years in Australia for the period of 1 July 2002 to 30 June 2012...
May 8, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28480565/abstracts-of-the-29th-annual-meeting-of-the-european-academy-of-childhood-disability-eacd-17-20-may-2017-amsterdam-the-netherlands
#19
(no author information available yet)
No abstract text is available yet for this article.
May 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28476510/prevalence-and-predictors-of-long-term-functional-impairment-epilepsy-mortality-and-stroke-recurrence-after-childhood-stroke-a-prospective-study-of-a-chilean-cohort
#20
Mauricio López-Espejo, Marta Hernández-Chávez
BACKGROUND: To evaluate the prevalence and predictors of long-term impairment, epilepsy, mortality, and recurrences after the first stroke in a cohort of Chilean children. METHODS: A prospective study involving 98 children who suffered a first stroke and underwent follow-up for at least 3 years in a single center. Functional outcome was measured using the modified Rankin Scale for children. We utilized multivariate logistic regression models to estimate the odds ratios (ORs) for outcomes while adjusting for age, sex, and underlying conditions (significance <...
May 2, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
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