keyword
MENU ▼
Read by QxMD icon Read
search

Childhood disability

keyword
https://www.readbyqxmd.com/read/28812061/behavioral-comorbidities-and-drug-treatments-in-a-zebrafish-scn1lab-model-of-dravet-syndrome
#1
Brian P Grone, Tiange Qu, Scott C Baraban
Loss-of-function mutations in SCN1A cause Dravet syndrome (DS), a catastrophic childhood epilepsy in which patients experience comorbid behavioral conditions, including movement disorders, sleep abnormalities, anxiety, and intellectual disability. To study the functional consequences of voltage-gated sodium channel mutations, we use zebrafish with a loss-of-function mutation in scn1lab, a zebrafish homolog of human SCN1A. Homozygous scn1lab(s552/s552) mutants exhibit early-life seizures, metabolic deficits, and early death...
July 2017: ENeuro
https://www.readbyqxmd.com/read/28810498/late-emotional-effects-of-rehabilitation-during-childhood-and-their-impact-on-coping-with-deafness-in-adulthood
#2
Adva Eichengreen, Dan Hoofien
This study examined potential influences of childhood rehabilitation and over-normalization on coping with disability in adulthood. A total of 88 deaf and hard-of-hearing students were interviewed retrospectively about their childhood and completed self-report questionnaires assessing psychological environment-directedness and present emotional and behavioral coping with deafness. It was partially supported that over-normative parental attitude negatively affected coping with deafness through the mediation of elevated environment-directedness...
July 1, 2017: Journal of Health Psychology
https://www.readbyqxmd.com/read/28805445/prevalence-and-predictors-of-learning-and-psychological-diagnoses-following-pediatric-arterial-ischemic-stroke
#3
Tricia S Williams, Kyla P McDonald, Samantha D Roberts, Nomazulu Dlamini, Gabrielle deVeber, Robyn Westmacott
This study examined the prevalence of learning and psychological diagnoses and associated neurological and personal-environmental risk factors following perinatal and childhood arterial ischemic stroke. In our sample of 126 children and youth, 52.4% received a diagnosis following their assessment. Specifically, 32% had a single diagnosis and 21% had two or more diagnoses. Learning disability, attention deficit-hyperactivity disorder, and intellectual disability were the most prevalent diagnoses. Associated risk factors varied by diagnosis with lower intellectual functioning being the common risk factor across categories...
August 14, 2017: Developmental Neuropsychology
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
#4
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/28801086/slowly-progressive-leukodystrophy-in-an-adolescent-male-with-phosphoglycerate-kinase-deficiency
#5
Shimpei Baba, Ayumi Kobayashi, Haruna Yokoyama, Kengo Moriyama, Ayako Kashimada, Jun Oyama, Ayako Owada, Shoichi Oyama, Tomohiro Morio, Masatoshi Takagi
We report the case of an 18-year-old man with a phosphoglycerate kinase (PGK) deficiency who had slowly progressive leukodystrophy during adolescence. The patient had a history of severe neonatal jaundice, hemolytic crisis with rhabdomyolysis triggered by febrile viral infections, dysarthria, and intellectual disability during early childhood. Clumsiness in walking and writing became obvious at ∼10years of age. Evaluations performed by us on the 18-year-old patient confirmed the presence of pyramidal tract signs, increased muscle tone, and generalized dystonia...
August 8, 2017: Brain & Development
https://www.readbyqxmd.com/read/28798147/very-preterm-birth-and-parents-quality-of-life-27-years-later
#6
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/28796392/natural-history-of-charcot-marie-tooth-disease-during-childhood
#7
Kayla Md Cornett, Manoj P Menezes, Rosemary R Shy, Isabella Moroni, Emanuela Pagliano, Davide Pareyson, Timothy Estilow, Sabrina W Yum, Trupti Bhandari, Francesco Muntoni, Matilde Laura, Mary M Reilly, Richard S Finkel, Kate J Eichinger, David N Herrmann, Paula Bray, Mark Halaki, Michael E Shy, Joshua Burns
OBJECTIVE: To determine the rate of disease progression in a longitudinal natural history study of children with Charcot-Marie-Tooth disease (CMT). METHODS: 206 (103 female) participants aged 3-20 years enrolled in the Inherited Neuropathies Consortium were assessed at baseline and 2-years. Demographic, anthropometric, and diagnostic information were collected. Disease progression was assessed with the CMT Pediatric Scale (CMTPedS), a reliable Rasch-built linearly weighted disability scale evaluating fine and gross motor function, strength, sensation, and balance...
August 10, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28782169/impact-of-neonatal-hypoxia-ischaemia-on-oligodendrocyte-survival-maturation-and-myelinating-potential
#8
Malgorzata Ziemka-Nalecz, Justyna Janowska, Lukasz Strojek, Joanna Jaworska, Teresa Zalewska, Malgorzata Frontczak-Baniewicz, Joanna Sypecka
Hypoxic-ischaemic episodes experienced at the perinatal period commonly lead to a development of neurological disabilities and cognitive impairments in neonates or later in childhood. Clinical symptoms often are associated with the observed alterations in white matter in the brains of diseased children, suggesting contribution of triggered oligodendrocyte/myelin pathology to the resulting disorders. To date, the processes initiated by perinatal asphyxia remain unclear, hampering the ability to develop preventions...
August 7, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28777934/mutations-in-trappc12-manifest-in-progressive-childhood-encephalopathy-and-golgi-dysfunction
#9
Miroslav P Milev, Megan E Grout, Djenann Saint-Dic, Yong-Han Hank Cheng, Ian A Glass, Christopher J Hale, David S Hanna, Michael O Dorschner, Keshika Prematilake, Avraham Shaag, Orly Elpeleg, Michael Sacher, Dan Doherty, Simon Edvardson
Progressive childhood encephalopathy is an etiologically heterogeneous condition characterized by progressive central nervous system dysfunction in association with a broad range of morbidity and mortality. The causes of encephalopathy can be either non-genetic or genetic. Identifying the genetic causes and dissecting the underlying mechanisms are critical to understanding brain development and improving treatments. Here, we report that variants in TRAPPC12 result in progressive childhood encephalopathy. Three individuals from two unrelated families have either a homozygous deleterious variant (c...
August 3, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28776246/burden-of-lower-respiratory-infections-in-the-eastern-mediterranean-region-between-1990-and-2015-findings-from-the-global-burden-of-disease-2015-study
#10
Ali H Mokdad
OBJECTIVES: We used data from the Global Burden of Disease 2015 study (GBD) to calculate the burden of lower respiratory infections (LRIs) in the 22 countries of the Eastern Mediterranean Region (EMR) from 1990 to 2015. METHODS: We conducted a systematic analysis of mortality and morbidity data for LRI and its specific etiologic factors, including pneumococcus, Haemophilus influenzae type b, Respiratory syncytial virus, and influenza virus. We used modeling methods to estimate incidence, deaths, and disability-adjusted life-years (DALYs)...
August 3, 2017: International Journal of Public Health
https://www.readbyqxmd.com/read/28776238/danger-ahead-the-burden-of-diseases-injuries-and-risk-factors-in-the-eastern-mediterranean-region-1990-2015
#11
Ali H Mokdad
OBJECTIVES: The Eastern Mediterranean Region faces several health challenges at a difficult time with wars, unrest, and economic change. METHODS: We used the Global Burden of Disease 2015 study to present the burden of diseases, injuries, and risk factors in the Eastern Mediterranean Region from 1990 to 2015. RESULTS: Ischemic heart disease was the leading cause of death in the region in 2015, followed by cerebrovascular disease. Changes in total deaths ranged from a reduction of 25% for diarrheal diseases to an increase of about 42% for diabetes and tracheal, bronchus, and lung cancer...
August 3, 2017: International Journal of Public Health
https://www.readbyqxmd.com/read/28771289/screening-for-gestational-diabetes-mellitus-based-on-different-risk-profiles-and-settings-for-improving-maternal-and-infant-health
#12
REVIEW
Joanna Tieu, Andrew J McPhee, Caroline A Crowther, Philippa Middleton, Emily Shepherd
BACKGROUND: Gestational diabetes mellitus (GDM) is a form of diabetes that occurs in pregnancy. Although GDM usually resolves following birth, it is associated with significant morbidities for mothers and their infants in the short and long term. There is strong evidence to support treatment for GDM. However, there is uncertainty as to whether or not screening all pregnant women for GDM will improve maternal and infant health and if so, the most appropriate setting for screening. This review updates a Cochrane Review, first published in 2010, and subsequently updated in 2014...
August 3, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28765025/congenital-malformations-of-the-central-nervous-system-in-rural-western-honduras-a-6-year-report-on-trends
#13
Dagoberto Estevez-Ordonez, Michael C Dewan, Michael J Feldman, Eleazar E Montalvan-Sanchez, Daniela M Montalvan-Sanchez, Aida A Rodriguez-Murillo, Samuel A Urrutia-Argueta, Charlotte B Cherry, Douglas R Morgan, Roberto Alvarez-Rodriguez, Christopher M Bonfield
BACKGROUND: Central nervous system (CNS) malformations including neural tube defects (NTDs) are the second most common type of birth defects world-wide, and are major causes of childhood disability and mortality. We report the first analysis of prevalence in Western Honduras of CNS malformations including NTDs over six consecutive years. METHODS: Data from all patients with congenital CNS malformations and total live births between 2010 and 2015 were obtained through institution and regional registries from all three public referral hospitals in Western Honduras, representing 67 municipalities...
July 29, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28757906/lumbosacral-dorsal-rhizotomy-for-spastic-cerebral-palsy-a-health-technology-assessment
#14
(no author information available yet)
BACKGROUND: Cerebral palsy, a spectrum of neuromuscular conditions caused by abnormal brain development or early damage to the brain, is the most common cause of childhood physical disability. Lumbosacral dorsal rhizotomy is a neurosurgical procedure that permanently decreases spasticity and is always followed by physical therapy. The objectives of this health technology assessment were to evaluate the clinical effectiveness, safety, cost effectiveness, and family perspectives of dorsal rhizotomy...
2017: Ontario Health Technology Assessment Series
https://www.readbyqxmd.com/read/28754226/febrile-seizures-and-epilepsy-association-with-autism-and-other-neurodevelopmental-disorders-in-the-child-and-adolescent-twin-study-in-sweden
#15
Christopher Gillberg, Sebastian Lundström, Elisabeth Fernell, Gill Nilsson, Brian Neville
BACKGROUND: There is a recently well-documented association between childhood epilepsy and earlysymptomaticsyndromeselicitingneurodevelopmentalclinicalexaminations (ESSENCE) including autism spectrum disorder, but the relationship between febrile seizures and ESSENCE is less clear. METHODS: The Child and Adolescent Twin Study in Sweden (CATSS) is an ongoing population-based study targeting twins born in Sweden since July 1, 1992. Parents of 27,092 twins were interviewed using a validated DSM-IV-based interview for ESSENCE, in connection with the twins' ninth or twelfth birthday...
June 8, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28750130/prevalence-of-hearing-loss-among-children-9-to-11-years-old-the-generation-r-study
#16
Carlijn M P le Clercq, Gijs van Ingen, Liesbet Ruytjens, André Goedegebure, Henriette A Moll, Hein Raat, Vincent W V Jaddoe, Rob J Baatenburg de Jong, Marc P van der Schroeff
Importance: Hearing loss (HL), a major cause of disability globally, negatively affects both personal and professional life. Objective: To describe the prevalence of sensorineural hearing loss (SNHL) among a population-based cohort of 9- to 11-year-old children, and to examine potential associations between purported risk factors and SNHL in early childhood. Design, Setting, and Participants: The study was among the general, nonclinical, pediatric community within the city of Rotterdam, the Netherlands, and was conducted between 2012 and 2015 as a cross-sectional assessment within the Generation R Study, a population-based longitudinal cohort study from fetal life until adulthood...
July 27, 2017: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/28747873/mitochondria-bioenergetics-and-excitotoxicity-new-therapeutic-targets-in-perinatal-brain-injury
#17
REVIEW
Bryan Leaw, Syam Nair, Rebecca Lim, Claire Thornton, Carina Mallard, Henrik Hagberg
Injury to the fragile immature brain is implicated in the manifestation of long-term neurological disorders, including childhood disability such as cerebral palsy, learning disability and behavioral disorders. Advancements in perinatal practice and improved care mean the majority of infants suffering from perinatal brain injury will survive, with many subtle clinical symptoms going undiagnosed until later in life. Hypoxic-ischemia is the dominant cause of perinatal brain injury, and constitutes a significant socioeconomic burden to both developed and developing countries...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28746323/ocular-morbidity-among-children-of-government-schools-of-kathmandu-valley-a-follow-up-study
#18
R K Shrestha, G S Shrestha
INTRODUCTION: Ocular and vision defects are common among school going children. Vision disorders, especially refractive errors are the main disabilities of children and the leading cause of handicapping conditions of childhood. The present study was conducted to find out ocular morbidity among students of government schools of Kathmandu valley. METHODS: In the descriptive and cross-sectional study, 2412 students, comprising of 1114 (46.2%) males and 1298 (53.8%) females were enrolled in to the study from the five government schools of Kathmandu valley from 2012 to 2013...
April 2017: JNMA; Journal of the Nepal Medical Association
https://www.readbyqxmd.com/read/28741757/equivalent-missense-variant-in-the-foxp2-and-foxp1-transcription-factors-causes-distinct-neurodevelopmental-disorders
#19
Elliot Sollis, Pelagia Deriziotis, Hirotomo Saitsu, Noriko Miyake, Naomichi Matsumoto, Mariëtte J V Hoffer, Claudia A L Ruivenkamp, Mariëlle Alders, Nobuhiko Okamoto, Emilia K Bijlsma, Astrid S Plomp, Simon E Fisher
The closely related paralogues FOXP2 and FOXP1 encode transcription factors with shared functions in the development of many tissues, including the brain. However, while mutations in FOXP2 lead to a speech/language disorder characterized by childhood apraxia of speech (CAS), the clinical profile of FOXP1 variants includes a broader neurodevelopmental phenotype with global developmental delay, intellectual disability, and speech/language impairment. Using clinical whole-exome sequencing, we report an identical de novo missense FOXP1 variant identified in three unrelated patients...
July 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/28737004/parent-child-interactions-and-children-with-cerebral-palsy-an-exploratory-study-investigating-emotional-availability-functional-ability-and-parent-distress
#20
J Barfoot, P Meredith, J Ziviani, K Whittingham
BACKGROUND: Emotionally available parent-child relationships are supportive of child health and development. When a child has cerebral palsy, a range of child and parent factors can potentially impact the parent-child relationship; however, little research has specifically addressed this question. The aim of this study is to investigate links between parent-child emotional availability and both child functional abilities and parent distress in a sample of parents and children with cerebral palsy...
July 23, 2017: Child: Care, Health and Development
keyword
keyword
49743
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"