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https://www.readbyqxmd.com/read/28643843/perisylvian-including-insular-childhood-epilepsy-presurgical-workup-and-surgical-outcome
#1
Elena Freri, Sara Matricardi, Francesca Gozzo, Massimo Cossu, Tiziana Granata, Laura Tassi
OBJECTIVE: To report the presurgical workup, surgical procedures, and outcomes in a series of pediatric patients with drug-resistant epilepsy involving the perisylvian/insular regions. METHODS: We retrospectively assessed 16 pediatric patients affected by drug-resistant focal epilepsy involving perisylvian/insular regions, who consecutively underwent tailored resective surgery. All patients underwent a detailed presurgical workup, which included the analysis of the anatomoelectroclinical correlations with scalp electroencephalography (EEG) and/or with stereo-electroencephalography (SEEG), brain magnetic resonance imaging (MRI), and comprehensive cognitive and neuropsychological evaluations...
June 23, 2017: Epilepsia
https://www.readbyqxmd.com/read/28639706/exercise-for-pregnant-women-with-gestational-diabetes-for-improving-maternal-and-fetal-outcomes
#2
REVIEW
Julie Brown, Gilles Ceysens, Michel Boulvain
BACKGROUND: Gestational diabetes mellitus (GDM) is associated with both short- and long-term complications for the mother and her baby. Exercise interventions may be useful in helping with glycaemic control and improve maternal and infant outcomes.The original review on Exercise for diabetic pregnant women has been split into two new review titles reflecting the role of exercise for pregnant women with gestational diabetes and for pregnant women with pre-existing diabetes. Exercise for pregnant women with gestational diabetes for improving maternal and fetal outcomes (this review) Exercise for pregnant women with pre-existing diabetes for improving maternal and fetal outcomes OBJECTIVES: To evaluate the effects of exercise interventions for improving maternal and fetal outcomes in women with GDM...
June 22, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28638969/introduction-childhood-and-disability
#3
EDITORIAL
Erica K Salter
From growth attenuation therapy for severely developmentally disabled children to the post-natal management of infants with trisomy 13 and 18, pediatric treatment decisions regularly involve assessments of the probability and severity of a child's disability. Because these decisions are almost always made by surrogate decision-makers (parents and caregivers) and because these decision-makers must often make decisions based on both prognostic guesses and potentially biased quality of life judgments, they are among the most ethically complex in pediatric care...
June 21, 2017: HEC Forum: An Interdisciplinary Journal on Hospitals' Ethical and Legal Issues
https://www.readbyqxmd.com/read/28638965/internalizing-and-externalizing-problems-in-childhood-and-adolescence-as-predictors-of-work-incapacity-in-young-adulthood
#4
Jurgita Narusyte, Annina Ropponen, Kristina Alexanderson, Pia Svedberg
BACKGROUND: There is limited information regarding the association between youth mental health problems and work incapacity in adulthood. We investigated whether internalizing (depressive, anxious, somatic complaints) and externalizing (aggressive, rule-breaking) behavior problems in childhood and adolescence were associated with sickness absence (SA) and disability pension (DP) in young adulthood. METHODS: Data were used from the population-based and prospective Twin Study of Child and Adolescent Development (TCHAD) which includes all Swedish twins born in 1985-1986 (N = 2570)...
June 21, 2017: Social Psychiatry and Psychiatric Epidemiology
https://www.readbyqxmd.com/read/28637445/cerebellar-mutism-syndrome-in-children-with-brain-tumours-of-the-posterior-fossa
#5
Morten Wibroe, Johan Cappelen, Charlotte Castor, Niels Clausen, Pernilla Grillner, Thora Gudrunardottir, Ramneek Gupta, Bengt Gustavsson, Mats Heyman, Stefan Holm, Atte Karppinen, Camilla Klausen, Tuula Lönnqvist, René Mathiasen, Pelle Nilsson, Karsten Nysom, Karin Persson, Olof Rask, Kjeld Schmiegelow, Astrid Sehested, Harald Thomassen, Ingrid Tonning-Olsson, Barbara Zetterqvist, Marianne Juhler
BACKGROUND: Central nervous system tumours constitute 25% of all childhood cancers; more than half are located in the posterior fossa and surgery is usually part of therapy. One of the most disabling late effects of posterior fossa tumour surgery is the cerebellar mutism syndrome (CMS) which has been reported in up to 39% of the patients but the exact incidence is uncertain since milder cases may be unrecognized. Recovery is usually incomplete. Reported risk factors are tumour type, midline location and brainstem involvement, but the exact aetiology, surgical and other risk factors, the clinical course and strategies for prevention and treatment are yet to be determined...
June 21, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28633531/the-effectiveness-of-aided-augmented-input-techniques-for-persons-with-developmental-disabilities-a-systematic-review
#6
Anna A Allen, Ralf W Schlosser, Kristofer L Brock, Howard C Shane
When working with individuals with little or no functional speech, clinicians often recommend that communication partners use the client's augmentative and alternative communication (AAC) device when speaking to the client. This is broadly known as "augmented input" and is thought to enhance the client's learning of language form and content. The purpose of this systematic review was to determine the effects of augmented input on communication outcomes in persons with developmental disabilities and persons with childhood apraxia of speech who use aided AAC...
June 21, 2017: Augmentative and Alternative Communication: AAC
https://www.readbyqxmd.com/read/28633435/mcm3ap-in-recessive-charcot-marie-tooth-neuropathy-and-mild-intellectual-disability
#7
Emil Ylikallio, Rosa Woldegebriel, Manuela Tumiati, Pirjo Isohanni, Monique M Ryan, Zornitza Stark, Maie Walsh, Sarah L Sawyer, Katrina M Bell, Alicia Oshlack, Paul J Lockhart, Mariia Shcherbii, Alejandro Estrada-Cuzcano, Derek Atkinson, Taila Hartley, Martine Tetreault, Inge Cuppen, W Ludo van der Pol, Ayse Candayan, Esra Battaloglu, Yesim Parman, Koen L I van Gassen, Marie-José H van den Boogaard, Kym M Boycott, Liisa Kauppi, Albena Jordanova, Tuula Lönnqvist, Henna Tyynismaa
Defects in mRNA export from the nucleus have been linked to various neurodegenerative disorders. We report mutations in the gene MCM3AP, encoding the germinal center associated nuclear protein (GANP), in nine affected individuals from five unrelated families. The variants were associated with severe childhood onset primarily axonal (four families) or demyelinating (one family) Charcot-Marie-Tooth neuropathy. Mild to moderate intellectual disability was present in seven of nine affected individuals. The affected individuals were either compound heterozygous or homozygous for different MCM3AP variants, which were predicted to cause depletion of GANP or affect conserved amino acids with likely importance for its function...
June 19, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28630118/childhood-firearm-injuries-in-the-united-states
#8
Katherine A Fowler, Linda L Dahlberg, Tadesse Haileyesus, Carmen Gutierrez, Sarah Bacon
OBJECTIVES: Examine fatal and nonfatal firearm injuries among children aged 0 to 17 in the United States, including intent, demographic characteristics, trends, state-level patterns, and circumstances. METHODS: Fatal injuries were examined by using data from the National Vital Statistics System and nonfatal injuries by using data from the National Electronic Injury Surveillance System. Trends from 2002 to 2014 were tested using joinpoint regression analyses. Incident characteristics and circumstances were examined by using data from the National Violent Death Reporting System...
June 19, 2017: Pediatrics
https://www.readbyqxmd.com/read/28626445/adverse-childhood-experiences-are-linked-to-age-of-onset-and-reading-recognition-in-multiple-sclerosis
#9
Michael T Shaw, Natalie O Pawlak, Ariana Frontario, Kathleen Sherman, Lauren B Krupp, Leigh E Charvet
BACKGROUND: Adverse childhood experiences (ACEs) exert a psychological and physiological toll that increases risk of chronic conditions, poorer social functioning, and cognitive impairment in adulthood. OBJECTIVE: To investigate the relationship between childhood adversity and clinical disease features in multiple sclerosis (MS). METHODS: Sixty-seven participants with MS completed the ACE assessment and neuropsychological assessments as part of a larger clinical trial of cognitive remediation...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28620849/clinical-management-of-dystonia-in-childhood
#10
REVIEW
Quyen N Luc, Jyes Querubin
Dystonia is one of the most frequent movement disorders in childhood. It can impede normal motor development and cause significant motor disability. The diagnostic evaluation of childhood dystonia is challenging due to the phenotypic variability and heterogeneous etiologies. Evidence to guide the diagnostic evaluation and treatment is limited. Assessment is primarily directed by clinical history and distinctive examination findings. Neuroimaging is typically necessary to evaluate for acquired or complex inherited dystonias...
June 15, 2017: Paediatric Drugs
https://www.readbyqxmd.com/read/28619687/use-of-the-central-sensitization-inventory-csi-as-a-treatment-outcome-measure-for-chronic-spinal-pain-disorder-patients-in-a-functional-restoration-program
#11
Randy Neblett, Meredith M Hartzell, Mark Williams, Kelley R Bevers, Tom G Mayer, Robert J Gatchel
BACKGROUND CONTEXT: The Central Sensitization Inventory (CSI) is a valid and reliable patient-reported instrument designed to identify patients whose presenting symptoms may be related to Central Sensitization (CS). Part A of the CSI measures a full array of 25 somatic and emotional symptoms associated with CS, and Part B asks if patients have previously been diagnosed with one or more specific Central Sensitivity Syndromes (CSSs) and related disorders. The CSI has previously been validated in a group of chronic pain patients who were screened by a trained psychiatrist for specific CSS diagnoses...
June 12, 2017: Spine Journal: Official Journal of the North American Spine Society
https://www.readbyqxmd.com/read/28607211/consensus-statement-of-the-indian-academy-of-pediatrics-on-newborn-hearing-screening
#12
Abraham Paul, Chhaya Prasad, S S Kamath, Samir Dalwai, M K C Nair, Waheeda Pagarkar
JUSTIFICATION: Hearing impairment is one of the most critical sensory impairments with significant social and psychological consequences. Reported incidence of congenital hearing loss is 30 per 10,000 children. Evidence-based, standardized national guidelines are needed for professionals to screen for hearing impairment during the neonatal period. PROCESS: The meeting on formulation of national consensus guidelines on developmental disorders was organized by Indian Academy of Pediatrics in Mumbai, on 18th and 19th December, 2015...
June 4, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28602046/exercise-interventions-for-cerebral-palsy
#13
REVIEW
Jennifer M Ryan, Elizabeth E Cassidy, Stephen G Noorduyn, Neil E O'Connell
BACKGROUND: Cerebral palsy (CP) is a neurodevelopmental disorder resulting from an injury to the developing brain. It is the most common form of childhood disability with prevalence rates of between 1.5 and 3.8 per 1000 births reported worldwide. The primary impairments associated with CP include reduced muscle strength and reduced cardiorespiratory fitness, resulting in difficulties performing activities such as dressing, walking and negotiating stairs.Exercise is defined as a planned, structured and repetitive activity that aims to improve fitness, and it is a commonly used intervention for people with CP...
June 11, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28602030/variable-expressivity-of-a-likely-pathogenic-variant-in-kcnq2-in-a-three-generation-pedigree-presenting-with-intellectual-disability-with-childhood-onset-seizures
#14
Stacy Hewson, Klajdi Puka, Saadet Mercimek-Mahmutoglu
KCNQ2 has been reported as a frequent cause of autosomal dominant benign familial neonatal seizures. De novo likely pathogenic variants in KCNQ2 have been described in neonatal or early infantile onset epileptic encephalopathy patients. Here, we report a three-generation family with six affected patients with a novel likely pathogenic variant (c.628C>T; p.Arg210Cys) in KCNQ2. Four family members, three adults and a child, presented with a childhood seizure onset with variability in the severity of seizures and response to treatment, intellectual disability (ID) as well as behavioral problems...
June 11, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28596095/framing-childhood-mental-disorders-within-the-context-of-disability
#15
Amy J Houtrow, Bonnie T Zima
No abstract text is available yet for this article.
April 13, 2017: Disability and Health Journal
https://www.readbyqxmd.com/read/28593608/tumor-necrosis-factor-%C3%AE-308-a-g-gene-polymorphism-in-children-with-juvenile-idiopathic-arthritis-relation-to-disease-activity-damage-and-functional-status
#16
Iman I El Gazzar, Hanan M Fathy, Tamer A Gheita, Abeer M Nour El-Din, Enas Abdel Rasheed, Rasha H Bassyouni, Sanaa A Kenawy
The study aims to evaluate the clinical significance of serum levels of tumor necrosis factor alpha (TNF-α) and -308 A/G promoter polymorphism in juvenile idiopathic arthritis (JIA) patients and find any association to the subsets, clinical and laboratory features, disease activity, and damage as well as functional disability. Forty-eight JIA children and 30 controls were included in the present study. Juvenile arthritis disease activity score in 27 joints (JADAS-27) was calculated, juvenile arthritis damage index (JADI) was assessed, and Childhood Health Assessment Questionnaire (CHAQ) measured the functional status...
June 7, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28592185/gendering-of-day-center-occupations-as-perceived-by-people-with-psychiatric-disabilities-in-sweden
#17
Stefan Widerberg, Mona Eklund
BACKGROUND: The aim was to explore the experiences and views of people attending day centers for people with psychiatric disabilities concerning the occurrence and nature of gendering of the occupations performed there. METHODS: Twenty-five day center attendees were interviewed regarding occupational choices at the day centers, whether they would describe day center occupations as gendered, and if so what the consequences were of the gendering of occupations. The transcribed texts were analyzed by thematic analysis...
June 8, 2017: Scandinavian Journal of Occupational Therapy
https://www.readbyqxmd.com/read/28591057/increase-the-risk-of-intellectual-disability-in-children-with-scabies-a-nationwide-population-based-cohort-study
#18
Jui-Ming Liu, Ren-Jun Hsu, Fung-Wei Chang, Chia-Lun Yeh, Chun-Fa Huang, Shu-Ting Chang, Nan-Chang Chiu, Hung-Yang Chang, Hsin Chi, Chien-Yu Lin
Scabies is a common and distressing disease caused by the mite Sarcoptes scabiei var. hominis. Psychiatric disorder in childhood is an important disease and easily neglected. There are several similarities in scabies and psychiatric disorders in childhood (PDC). Both of them may present with pruritus. They are relatively common in patients with lower socioeconomic status and crowded environment. Furthermore, immune-mediated inflammatory processes play a role in the pathophysiology in both diseases. An association between scabies and psychiatric disorders may exist...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28589176/arhgef9-disease-phenotype-clarification-and-genotype-phenotype-correlation
#19
Michael Alber, Vera M Kalscheuer, Elysa Marco, Elliott Sherr, Gaetan Lesca, Marianne Till, Gyri Gradek, Antje Wiesener, Christoph Korenke, Sandra Mercier, Felicitas Becker, Toshiyuki Yamamoto, Stephen W Scherer, Christian R Marshall, Susan Walker, Usha R Dutta, Ashwin B Dalal, Vanessa Suckow, Payman Jamali, Kimia Kahrizi, Hossein Najmabadi, Berge A Minassian
OBJECTIVE: We aimed to generate a review and description of the phenotypic and genotypic spectra of ARHGEF9 mutations. METHODS: Patients with mutations or chromosomal disruptions affecting ARHGEF9 were identified through our clinics and review of the literature. Detailed medical history and examination findings were obtained via a standardized questionnaire, or if this was not possible by reviewing the published phenotypic features. RESULTS: A total of 18 patients (including 5 females) were identified...
June 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28581542/visual-impairment-and-traits-of-autism-in-children
#20
REVIEW
Magdalena Wrzesińska, Joanna Kapias, Katarzyna Nowakowska-Domagała, Józef Kocur
Visual impairment present from birth or from an early childhood may lead to psychosocial and emotional disorders. 11-40% of children in the group with visual impairment show traits of autism. The aim of this paper was to present the selected examples of how visual impairment in children is related to the occurrence of autism and to describe the available tools for diagnosing autism in children with visual impairment. So far the relation between visual impairment in children and autism has not been sufficiently confirmed...
April 30, 2017: Psychiatria Polska
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