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https://www.readbyqxmd.com/read/28819893/-cochlear-implantation-in-a-girl-with-7q-microdeletion-syndrome
#1
A Roemer, T Lenarz, A Lesinski-Schiedat
One of the rare genetic diseases with sensory hearing loss is the microdeletion 7q syndrome. First described in the 1990s, only 7 cases of patients with this disease are described in the literature. Although this mutation is not well known, otological treatment is necessary if the DFNA5 gene is affected. A mutation in this gene leads to progressive hearing loss. Affected children therefore need regular evaluation of their hearing to ensure adequate treatment with hearing aids at early stages. We now present a case of an affected child with sensory hearing loss, mental retardation and anogenital malformations...
August 17, 2017: HNO
https://www.readbyqxmd.com/read/28816915/physician-awareness-of-developmental-screening-and-referral-in-the-state-of-kuwait
#2
Hollie Hix-Small, Khaled Alkherainej
OBJECTIVE: In the State of Kuwait, family physicians and pediatricians are responsible for identifying and referring children at risk of disability. The aims of this study were to better understand physician (1) use of developmental screening instruments, (2) referral practices for children at risk of developmental disability, (3) interpretation of screening results, and (4) anticipatory guidance topics prioritized over child screening. METHODS: A nonprobability volunteer, self-selection sample of family physicians, general practitioners, and pediatricians (n = 398) completed a 60-item paper questionnaire...
August 9, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28815939/paternal-transmission-of-a-fmr1-full-mutation-allele
#3
Maria Isabel Alvarez-Mora, Miriam Guitart, Laia Rodriguez-Revenga, Irene Madrigal, Elisabeth Gabau, Montserrat Milà
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID) and autism. In most of cases, the molecular basis of this syndrome is a CGG repeat expansion in the 5' untranslated region of the FMR1 gene. It is inherited as an X linked dominant trait, with a reduced penetrance (80% for males and 30% for females). Full mutation (FM) expansion from premutated alleles (PM) is only acquired via maternal meiosis, while paternal transmission always remains in the PM range. We present a 16-year-old girl with a mild fragile X syndrome phenotype...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28814012/quantitative-measures-with-wrex-usage
#4
Tracy M Shank, Jinyong Wee, Jennifer Ty, Tariq Rahman
This paper presents the results of two surveys conducted with users of a functional upper extremity orthosis called the Wilmington Robotic EXoskeleton (WREX). The WREX is a passive anti-gravity arm orthosis that allows people with neuromuscular disabilities to move their arms in three dimensions. An online user survey with 55 patients was conducted to determine the benefits of the WREX. The survey asked 10 questions related to upper extremity function with and without the WREX as well as subjective impressions of the device...
July 2017: IEEE ... International Conference on Rehabilitation Robotics: [proceedings]
https://www.readbyqxmd.com/read/28813268/parents-with-intellectual-disability
#5
REVIEW
Carlo Schuengel, Sabina Kef, Marja W Hodes, Marieke Meppelder
Questions around parents with intellectual disability have changed according to sociocultural shifts in the position and rights of people with intellectual disability. The early research focus on capacity for parenting has given way to a contextual model of parenting and child outcomes, increasingly tested in population-based samples. Epidemiological research shows that contextual variables such as low income, exposure to violence, and poor mental health partly account for negative outcomes. As theoretical models developed for other at risk populations prove increasingly helpful for understanding the challenges of parenting with intellectual disability, it becomes viable to adapt existing evidence-based parenting interventions and test these for this population...
June 2017: Current Opinion in Psychology
https://www.readbyqxmd.com/read/28810956/the-reasons-for-living-scale-military-version-assessing-protective-factors-against-suicide-in-a-military-sample
#6
Anne-Marie Deutsch, R Gregory Lande
INTRODUCTION: Military suicide rates have been rising over the past decade and continue to challenge military treatment facilities. Assessing suicide risk and improving treatments are a large part of the mission for clinicians who work with uniformed service members. This study attempts to expand the toolkit of military suicide prevention by focusing on protective factors over risk factors. In 1983, Marsha Linehan published a checklist called the Reasons for Living Scale, which asked subjects to check the reasons they choose to continue living, rather than choosing suicide...
July 2017: Military Medicine
https://www.readbyqxmd.com/read/28809057/understanding-frames-a-uk-survey-of-parents-and-professionals-regarding-the-use-of-standing-frames-for-children-with-cerebral-palsy
#7
J Goodwin, A Colver, A Basu, S Crombie, D Howel, J R Parr, E McColl, N Kolehmainen, A Roberts, J Lecouturier, J Smith, K Miller, J Cadwgan
BACKGROUND: Standing frames are used for children with cerebral palsy (CP). They may improve body structure and function (e.g., reducing risk of hip subluxation, and improving bladder and bowel function), improving activity (e.g., motor abilities) and participation (e.g., interaction with peers), but there is little evidence that they do. We aimed to identify current UK standing frame practice for children with CP and to understand stakeholder views regarding their clinical benefits and challenges to use...
August 15, 2017: Child: Care, Health and Development
https://www.readbyqxmd.com/read/28808084/glycopyrronium-for-severe-drooling-in-children
#8
(no author information available yet)
Drooling of saliva is common in children with physical, intellectual and learning disability, and with poor neuromuscular coordination and oral control.(1) It can cause skin breakdown, damage to clothes and equipment and psychosocial problems for the child and family. For many years, glycopyrronium has been prescribed off-label using the injection solution given orally or tablets crushed and suspended in water, or as unlicensed products that were imported or manufactured as pharmaceutical specials.(2,3) In January 2017, a glycopyrronium oral solution (Sialanar-Proveca Limited) became available in the UK as the first licensed product for the treatment of severe drooling (sialorrhoea) in children and adolescents aged 3 years and older with chronic neurological disorders...
August 2017: Drug and Therapeutics Bulletin
https://www.readbyqxmd.com/read/28807867/impairment-of-different-protein-domains-causes-variable-clinical-presentation-within-pitt-hopkins-syndrome-and-suggests-intragenic-molecular-syndromology-of-tcf4
#9
Maria Francesca Bedeschi, Giuseppe Marangi, Maria Rosaria Calvello, Stefania Ricciardi, Francesca Pia Chiara Leone, Marco Baccarin, Silvana Guerneri, Daniela Orteschi, Marina Murdolo, Serena Lattante, Silvia Frangella, Beth Keena, Margaret H Harr, Elaine Zackai, Marcella Zollino
Pitt-Hopkins syndrome is a neurodevelopmental disorder characterized by severe intellectual disability and a distinctive facial gestalt. It is caused by haploinsufficiency of the TCF4 gene. The TCF4 protein has different functional domains, with the NLS (nuclear localization signal) domain coded by exons 7-8 and the bHLH (basic Helix-Loop-Helix) domain coded by exon 18. Several alternatively spliced TCF4 variants have been described, allowing for translation of variable protein isoforms. Typical PTHS patients have impairment of at least the bHLH domain...
August 11, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28802895/physical-activity-and-obesity-among-nine-year-old-children-with-and-without-chronic-health-problems-illness-or-disabilities-in-ireland
#10
Justin A Haegele, Sean Healy, Xihe Zhu
BACKGROUND: Regular engagement in physical activity can help youth control their weight during childhood while decreasing one's chances of developing chronic diseases (e.g., coronary heart disease, diabetes) throughout the lifespan. While numerous studies have explored physical activity participation and weight status among typically developing children, few epidemiological studies utilizing nationally representative data has focused on children with chronic health problems, illness, or disabilities (CHID)...
August 8, 2017: Disability and Health Journal
https://www.readbyqxmd.com/read/28801223/limited-benefits-of-presymptomatic-cord-blood-transplantation-in-neurovisceral-acid-sphingomyelinase-deficiency-asmd-intermediate-type
#11
Oriane Mercati, Samia Pichard, Marie Ouachée, Roseline Froissart, Odile Fenneteau, Bastien Roche, Monique Elmaleh-Bergès, Yves Bertrand, Hélène Ogier de Baulny, Marie T Vanier, Manuel Schiff
Acid sphingomyelinase (ASM) deficient Niemann-Pick disease is a lysosomal storage disorder resulting from mutations in the SMPD1 gene. The clinical spectrum distinguishes a severe infantile neurological form (type A), a non-neurological visceral form (type B) and a rare intermediate neurovisceral form. We report the first case of presymptomatic cord blood transplantation in a child with the intermediate type of ASM deficiency due to a homozygous Tyr369Cys mutation, whose affected elder brother had developed neurodevelopmental delay from 19 months of age, and had died from severe visceral complications at the age of 3...
July 29, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28798147/very-preterm-birth-and-parents-quality-of-life-27-years-later
#12
Dieter Wolke, Nicole Baumann, Barbara Busch, Peter Bartmann
BACKGROUND AND OBJECTIVES: Parents of preterm children experience increased distress early in their children's lives. Whether the quality of life of parents of preterm children is comparable to that of parents of term children by the time their offspring reach adulthood is unknown. What precursors in their offspring's childhood predict parental quality of life? METHODS: A prospective whole-population study in Germany followed very preterm (VP) (<32 weeks gestation) or very low birth weight (VLBW) (<1500 g) (N = 250) and term-born individuals (N = 230) and their parents (VP or VLBW: N = 219; term: N = 227) from birth to adulthood...
August 10, 2017: Pediatrics
https://www.readbyqxmd.com/read/28797115/ranking-93-health-interventions-for-low-and-middle-income-countries-by-cost-effectiveness
#13
Susan Horton, Hellen Gelband, Dean Jamison, Carol Levin, Rachel Nugent, David Watkins
BACKGROUND: Cost-effectiveness rankings of health interventions are useful inputs for national healthcare planning and budgeting. Previous comprehensive rankings for low- and middle- income countries were undertaken in 2005 and 2006, accompanying the development of strategies for the Millennium Development Goals. We update the rankings using studies published since 2000, as strategies are being considered for the Sustainable Development Goals. METHODS: Expert systematic searches of the literature were undertaken for a broad range of health interventions...
2017: PloS One
https://www.readbyqxmd.com/read/28795898/from-feeling-broken-to-looking-beyond-broken-palestinian-mothers-experiences-of-having-a-child-with-spina-bifida
#14
Maha Sudki Hmeidan Nahal, Helena Wigert, Asma Imam, Åsa B Axelsson
Spina bifida (SB) is the second most common birth defect worldwide. Mothers of children with SB face extraordinary challenges due to the complicated conditions and disability of their children. Little is known about the impact of these challenges on the mothers' well-being, particularly in Middle Eastern culture, where chronic illness and disability are perceived as a stigma, and care of disabled children has traditionally been the responsibility of the mother. The aim of this study was to illuminate mothers' lived experience of having a child with SB in Palestine...
May 2017: Journal of Family Nursing
https://www.readbyqxmd.com/read/28795422/the-participation-of-parents-of-disabled-children-and-young-people-in-health-and-social-care-decisions
#15
P McNeilly, G Macdonald, B Kelly
BACKGROUND: There is widespread acceptance that parents should be fully involved in decisions about their son or daughter's health and social care. This is reflected in partnership models of practice as well as local and national policy across the United Kingdom. Previous research indicates that parents' experiences of decision making with professionals are mixed. AIM: The research reported here aimed to explore parents' experiences of participating in decisions made with professionals about their disabled son or daughter's care...
August 9, 2017: Child: Care, Health and Development
https://www.readbyqxmd.com/read/28795253/autonomic-responses-to-head-up-tilt-test-in-children-with-autism-spectrum-disorders
#16
Véronique-Aurélie Bricout, Marion Pace, Léa Dumortier, Anne Favre-Juvin, Michel Guinot
Autism Spectrum Disorders (ASD) is a group of neurodevelopmental disorders often manifested by social and behavioral deficiencies. Autonomic dysfunction is frequently reported in the autistic population but the mechanisms remain largely unknown. We aimed to characterize the cardiac autonomic profile of children with autism during a head-up tilt test. Thirty-nine male children were recruited: 19 controls (9.9 ± 1.6 years) and 20 children with ASD without intellectual disability (10.7 ± 1.2 years). Each child underwent a head-up tilt test on a motorized tilt table...
August 9, 2017: Journal of Abnormal Child Psychology
https://www.readbyqxmd.com/read/28794913/wolf-hirschhorn-syndrome-clinical-and-genetic-data-from-a-first-case-diagnosed-in-central-africa
#17
Sébastien Mbuyi-Musanzayi, Aimé Lumaka, Toni Lubala Kasole, Erick Kasamba Ilunga, Bienvenu Yogolelo Asani, Prosper Lukusa Tshilobo, Prosper Kalenga Muenze, Hervé Reychler, François Tshilombo Katombe, Koenraad Devriendt
Wolf-Hirschhorn syndrome (WHS) is a multiple congenital anomaly-intellectual disability syndrome caused by a deletion involving chromosome 4p16.3. We report clinical and genetic findings of the first WHS patient diagnosed in central Africa. This boy who presented with cleft palate, microcephaly, severe growth delay, and intellectual disability was 12 years old. Typical craniofacial features were present, though the characteristic "Greek helmet" appearance of the nose was less evident, probably reflecting a variable expression related to the genetic background...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28792852/squaring-state-child-vaccine-policy-with-individual-rights-under-the-individuals-with-disabilities-education-act-questions-raised-in-california
#18
Ross D Silverman, Wendy F Hensel
No abstract text is available yet for this article.
January 1, 2017: Public Health Reports
https://www.readbyqxmd.com/read/28791670/xingnao-kaiqiao-acupuncture-combined-with-angong-niuhuang-wan-for-a-patient-under-persistent-vegetative-state-a-case-report
#19
Hujie Song, Xiao Chen, Yalan Yu, Ling Zhang
Persistent vegetative state (PVS) is a clinical condition wherein the cerebral cortex loses its function although brain stem function remains relatively intact. It has high mortality and disability rates. Although treatment for PVS is extensively studied in developed countries, little breakthrough has been made. In China, many PVS patients who were treated with traditional Chinese medicine (TCM) and acupuncture therapy were reported to have regained consciousness. In our department, we have been investigating TCM diagnosis and treatment methods for PVS for many years and have summarized a set of curative programs...
August 8, 2017: Frontiers of Medicine
https://www.readbyqxmd.com/read/28778056/cognitive-predictors-of-adaptive-functioning-in-children-with-symptomatic-epilepsy
#20
Elizabeth N Kerr, Nora Fayed
The current study sought to understand the contribution of the attention and working memory challenges experienced by children with active epilepsy without an intellectual disability to adaptive functioning (AF) while taking into account intellectual ability, co-occurring brain-based psychosocial diagnoses, and epilepsy-related variables. METHODS: The relationship of attention and working memory with AF was examined in 76 children with active epilepsy with intellectual ability above the 2nd percentile recruited from a tertiary care center...
July 28, 2017: Epilepsy Research
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