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https://www.readbyqxmd.com/read/29326522/fragile-x-syndrome-a-rare-case-report-with-unusual-oral-features
#1
Prayas Ray, Arpanna Singh, Jayanta Kumar Dash, Prasanna Kumar Sahoo, Jitendra Kumar Dash
Fragile X syndrome (FXS) is a rare variant of special health-care need demonstrating delayed developmental milestones and associated with intellectual and emotional disabilities ranging from learning problem to mental retardation. The syndrome is usually not diagnosed until 8-9 years of age since the clinical manifestations of the syndrome are greatly attenuated in childhood. The physical characteristics such as facial features, hyperactivity, attention deficit, autistic behavior, and macroorchidism are quite evident in younger age group...
October 2017: Contemporary Clinical Dentistry
https://www.readbyqxmd.com/read/29325175/early-parental-abuse-and-daily-assistance-to-aging-parents-with-disability-associations-with-the-middle-aged-adults-daily-well-being
#2
Yin Liu, Jooyoung Kong, Lauren R Bangerter, Steven H Zarit, David M Almeida
Objectives: The current study examined the within-person association between providing daily assistance to aging parents with disability and adult children's daily mood in the context of early relationship with parents. Methods: We used data from 782 participants and 5,758 daily interviews from the Midlife in the United States (MIDUS) Refresher, with 248 people self-reported providing daily assistance ranging from 1 to 8 days out of the entire daily-interview period...
January 9, 2018: Journals of Gerontology. Series B, Psychological Sciences and Social Sciences
https://www.readbyqxmd.com/read/29321699/the-association-between-childhood-traumatic-events-and-headache-related-parameters-in-patients-with-migraine-a-cross-sectional-study-in-turkish-population
#3
Esra Özdil Demiryürek, Bekir Enes Demiryürek, Atilla Tekin, Yeşim Güzey Aras, Belma Doğan Güngen, Sebatiye Erdoğan
Introduction: The aim of this study is to investigate the association between childhood traumatic events and headache-related clinical parameters in migraine patients. Methods: 95 patients diagnosed with migraine and 50 healthy controls were included in the study. A socio-demographic form, the Childhood Trauma Questionnaire (CTQ), the Beck Depression Inventory (BDI) and the Beck Anxiety Inventory (BAI) were completed by all participants. Additionally, the Visual Analog Scale (VAS) and the Migraine Disability Assessment Test (MIDAS) were applied to migraine patients...
December 2017: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/29315926/occupational-status-among-adult-survivors-following-allogeneic-stem-cell-transplantation-in-childhood
#4
Jeanette Winterling, Eva Johansson, Lena Wettergren, Per Ljungman, Kristina Alexanderson
This study examined occupational status and factors associated with sick leave and disability pension among adult long-term survivors previously treated with allogeneic stem cell transplantation (allo-SCT) during childhood. Moreover, occupational status was compared to that of a reference group. Data were collected with questionnaires and from medical records. The SCT group included 59 adults (18-45 years old: response rate 63%) treated with allo-SCT in childhood with a median of 17 (range 3-28) years earlier...
January 8, 2018: European Journal of Cancer Care
https://www.readbyqxmd.com/read/29310742/utility-of-arterial-stiffness-assessment-in-children
#5
Chaitanya Panchangam, Eric Dean Merrill, Geetha Raghuveer
Atherosclerotic cardiovascular disease is a leading cause of death and disability worldwide, and the atherosclerotic process begins in childhood. Prevention or containment of risk factors that accelerate atherosclerosis can delay the development of atherosclerotic cardiovascular disease. Although current recommendations are to periodically screen for commonly prevailing risk factors for atherosclerosis in children, a single test that could quantify the cumulative effect of all risk factors on the vasculature, thus assessing arterial health, would be helpful in further stratifying risk...
January 9, 2018: Cardiology in the Young
https://www.readbyqxmd.com/read/29306936/remote-healing-of-bipolar-disorder-eating-disorder-not-otherwise-specified-posttraumatic-stress-disorder-fibromyalgia-and-irritable-bowel-syndrome-through-lifestyle-change
#6
Kelly Brogan
This case report illustrates the relationship between gut, hormonal, and brain function in that dietary change, mindfulness interventions, and detoxification led to resolution of disabling psychiatric symptoms. In this case, a single Caucasian female resolved her symptoms of bipolar disorder (BD) including psychotic features and suicidality, posttraumatic stress disorder symptoms from childhood torture, disordered eating, fibromyalgia, and irritable bowel syndrome through lifestyle interventions. This patient survived a severe trauma history only to develop alcohol dependence, disordered eating, and depressive symptoms, which were treated with a polypharmaceutical psychiatric approach...
October 2017: Advances in Mind-body Medicine
https://www.readbyqxmd.com/read/29303800/prescribing-trends-of-atypical-antipsychotic-drugs-in-an-outpatient-unit-of-a-child-and-adolescent-clinic-in-turkey
#7
Çiğdem Yektaş, Ali Evren Tufan
OBJECTIVE: Use of antipsychotic agents in the management of various psychopathologies in Child and Adolescent Psychiatric practice is gradually increasing. This study aimed to evaluate the sociodemographic and clinical features of children and adolescents who applied to an outpatient clinic of child and adolescent psychiatry department in Turkey and were prescribed atypical antipsychotics. METHOD: Patients with prescription codes of ATC N05A (except N05AN lithium) were accepted to denote those with atypical antipsychotic treatment...
January 5, 2018: Clinical Neuropharmacology
https://www.readbyqxmd.com/read/29303140/optic-disc-coloboma-in-two-nigerian-siblings-case-report-and-review-of-literature
#8
Y O Babalola, O O Olawoye, P O Idam
We report two cases of bilateral asymmetric optic disc coloboma (ODC) in siblings. The index patient is a 9-year-old Nigerian girl with severe cognitive deficit who presented with a poor vision of 3 years' duration. She had a history of childhood febrile convulsions and delayed developmental milestones. Her visual acuity could not be assessed because she had a cognitive deficit and expressive aphasia. Ocular examination revealed a very large excavated right optic disc with only a strip of remnant neuro-retinal rim superiorly, and a smaller left optic disc with inferior disc excavation, superior wedge of the pink neuro-retinal rim as well as a temporal optic disc pit...
November 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/29297597/validation-of-a-novel-scoring-system-for-changes-in-skeletal-manifestations-of-hypophosphatasia-in-newborns-infants-and-children-the-radiographic-global-impression-of-change-scale
#9
Michael P Whyte, Kenji P Fujita, Scott Moseley, David D Thompson, William H McAlister
Hypophosphatasia (HPP) is the heritable metabolic disease characterized by impaired skeletal mineralization due to low activity of the tissue-nonspecific isoenzyme of alkaline phosphatase. Although HPP during growth often manifests with distinctive radiographic skeletal features, no validated method was available to quantify them, including changes over time. We created the Radiographic Global Impression of Change (RGI-C) scale to assess changes in the skeletal burden of pediatric HPP. Site-specific pairs of radiographs of newborns, infants, and children with HPP from 3 clinical studies of asfotase alfa, an enzyme replacement therapy for HPP, were obtained at Baseline and during treatment...
January 3, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29296872/chronic-disease-burden-and-frailty-in-survivors-of-childhood-hsct-a-report-from-the-st-jude-lifetime-cohort-study
#10
Hesham M Eissa, Lu Lu, Malek Baassiri, Nickhill Bhakta, Matthew J Ehrhardt, Brandon M Triplett, Daniel M Green, Daniel A Mulrooney, Leslie L Robison, Melissa M Hudson, Kirsten K Ness
Outcomes of hematopoietic stem cell transplantation (HSCT) have markedly improved over the past 2 decades, underscoring a need to better understand the long-term health effects of this intensive treatment modality. We describe the burden of chronic medical conditions and frail health among St. Jude Lifetime Cohort Study participants treated for childhood hematologic malignancies with HSCT (n = 112) or with conventional therapy (n = 1106). Chronic conditions and frail health were ascertained clinically and classified according to a modified version of the Common Terminology Criteria for Adverse Events (version 4...
November 14, 2017: Blood Advances
https://www.readbyqxmd.com/read/29296085/epilepsy-in-patients-with-autism-links-risks-and-treatment-challenges
#11
REVIEW
Frank Mc Besag
Autism is more common in people with epilepsy, approximately 20%, and epilepsy is more common in people with autism with reported rates of approximately 20%. However, these figures are likely to be affected by the current broader criteria for autism spectrum disorder (ASD), which have contributed to an increased prevalence of autism, with the result that the rate for ASD in epilepsy is likely to be higher and the figure for epilepsy in ASD is likely to be lower. Some evidence suggests that there are two peaks of epilepsy onset in autism, in infancy and adolescence...
2018: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/29289389/tubb3-e410k-syndrome-with-osteoporosis-and-cough-syncope-in-a-patient-previously-diagnosed-with-atypical-moebius-syndrome
#12
Yasuko Nakamura, Hiroshi Matsumoto, Kiyotaka Zaha, Kenji Uematsu, Shigeaki Nonoyama
BACKGROUND: A heterozygous c.1228G > A p.E410K mutation in TUBB3 encoding neuronal-specific β-tubulin isotype 3 causes TUBB3 E410K syndrome, which exhibits a wide range of neurological and endocrinological abnormalities. CASE DESCRIPTION: The patient is a 31-year-old Japanese woman who was diagnosed with atypical Moebius syndrome because of congenital facial weakness and extraocular ophthalmoplegia sparing abduction. She suffered a femoral neck fracture at 23 years of age, and radiological and endocrinological studies revealed osteoporosis because of hypogonadotropic hypogonadism...
December 27, 2017: Brain & Development
https://www.readbyqxmd.com/read/29286390/a-novel-strategy-combining-array-cgh-whole-exome-sequencing-and-in-utero-electroporation-in-rodents-to-identify-causative-genes-for-brain-malformations
#13
Valerio Conti, Aurelie Carabalona, Emilie Pallesi-Pocachard, Richard J Leventer, Fabienne Schaller, Elena Parrini, Agathe A Deparis, Françoise Watrin, Emmanuelle Buhler, Francesca Novara, Stefano Lise, Alistair T Pagnamenta, Usha Kini, Jenny C Taylor, Orsetta Zuffardi, Alfonso Represa, David Antony Keays, Renzo Guerrini, Antonio Falace, Carlos Cardoso
Birth defects that involve the cerebral cortex - also known as malformations of cortical development (MCD) - are important causes of intellectual disability and account for 20-40% of drug-resistant epilepsy in childhood. High-resolution brain imaging has facilitated in vivo identification of a large group of MCD phenotypes. Despite the advances in brain imaging, genomic analysis and generation of animal models, a straightforward workflow to systematically prioritize candidate genes and to test functional effects of putative mutations is missing...
December 1, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29285632/infant-health-and-future-childhood-adversity
#14
Nancy E Reichman, Hope Corman, Kelly Noonan, Manuel E Jiménez
Objective To investigate the extent to which disabling infant health conditions are associated with adverse childhood experiences at age 5. Methods We conducted a secondary analysis of data from the Fragile Families and Child Wellbeing Study, a national urban birth cohort. We estimated logistic regression models of associations between the presence of a disabling infant health condition and the child's ACE exposures at age 5, controlling for factors that preceded the child's birth, including the mother's sociodemographic characteristics, physical health, mental illness, and substance abuse and the parents' criminal justice system involvement and domestic violence or sexual abuse...
December 28, 2017: Maternal and Child Health Journal
https://www.readbyqxmd.com/read/29282090/pharmacokinetic-and-safety-profile-of-tofacitinib-in-children-with-polyarticular-course-juvenile-idiopathic-arthritis-results-of-a-phase-1-open-label-multicenter-study
#15
Nicolino Ruperto, Hermine I Brunner, Zbigniew Zuber, Nikolay Tzaribachev, Daniel J Kingsbury, Ivan Foeldvari, Gerd Horneff, Elzbieta Smolewska, Richard K Vehe, Anasuya Hazra, Rong Wang, Charles A Mebus, Christine Alvey, Manisha Lamba, Sriram Krishnaswami, Thomas C Stock, Min Wang, Ricardo Suehiro, Alberto Martini, Daniel J Lovell
BACKGROUND: Juvenile idiopathic arthritis (JIA) is the most common pediatric rheumatic disease and a leading cause of childhood disability. The objective of this study was to characterize the PK, safety, and taste acceptability of tofacitinib in patients with JIA. METHODS: This Phase 1, open-label, multiple-dose (twice daily [BID] for 5 days) study of tofacitinib in patients with active (≥ 5 joints) polyarticular course JIA was conducted from March 2013-December 2015...
December 28, 2017: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/29280986/disparities-in-non-fatal-health-outcomes-in-pediatric-general-trauma-studies
#16
REVIEW
Shanthi Ameratunga, Jacqueline Ramke, Nicki Jackson, Sandar Tin Tin, Belinda Gabbe
When prevention efforts fail, injured children require high-quality health services to support their recovery. Disparities in non-fatal injury outcomes, an indicator of health-care quality, have received minimal attention. We evaluated the extent to which general trauma follow-up studies published in the peer-reviewed scientific literature provide evidence of socially patterned inequities in health, functional or disability outcomes ≥4 weeks after childhood injuries. Using a systematic search, we identified 27 eligible cohort studies from 13 high-income countries...
December 27, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/29280230/high-prevalence-of-diabetes-mellitus-hypertension-and-obesity-among-persons-with-a-recorded-diagnosis-of-intellectual-disability-or-autism-spectrum-disorder
#17
E Flygare Wallén, G Ljunggren, A C Carlsson, D Pettersson, P Wändell
BACKGROUND: Obesity and lack of physical activity are frequently reported in persons with intellectual disability (ID) or autism spectrum disorder (ASD). We hypothesised a higher prevalence of diabetes and hypertension in this population. METHOD: We used administrative data for all primary and specialist outpatient and inpatient healthcare consultations for people with at least one recorded diagnosis of diabetes mellitus, hypertension or obesity from 1998 to 2015...
December 26, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29277240/-a-mentalization-based-perspective-on-childhood-autism-treatment
#18
M Thevenet, C Dondé, R Machabert, L Ancona, C Jost, N Georgieff
Mentalization is a process by which a subject makes sense of both his own mental representations and of those around him. Disturbances in the mentalization process are found in several psychiatric disorders, notably borderline personality disorders for which mentalization-based treatments (MBT) have been developed and evaluated. Children with Autism Spectrum Disorder (ASD) display a theory of mind impairments, which corresponds to disturbances in the mentalization process. Although no MBT protocol for patients with ASD has been described in the literature, such treatment appears promising to improve theory of mind and functional outcome of these children...
December 22, 2017: L'Encéphale
https://www.readbyqxmd.com/read/29276005/histone-lysine-methylases-and-demethylases-in-the-landscape-of-human-developmental-disorders
#19
Víctor Faundes, William G Newman, Laura Bernardini, Natalie Canham, Jill Clayton-Smith, Bruno Dallapiccola, Sally J Davies, Michelle K Demos, Amy Goldman, Harinder Gill, Rachel Horton, Bronwyn Kerr, Dhavendra Kumar, Anna Lehman, Shane McKee, Jenny Morton, Michael J Parker, Julia Rankin, Lisa Robertson, I Karen Temple, Siddharth Banka
Histone lysine methyltransferases (KMTs) and demethylases (KDMs) underpin gene regulation. Here we demonstrate that variants causing haploinsufficiency of KMTs and KDMs are frequently encountered in individuals with developmental disorders. Using a combination of human variation databases and existing animal models, we determine 22 KMTs and KDMs as additional candidates for dominantly inherited developmental disorders. We show that KMTs and KDMs that are associated with, or are candidates for, dominant developmental disorders tend to have a higher level of transcription, longer canonical transcripts, more interactors, and a higher number and more types of post-translational modifications than other KMT and KDMs...
January 4, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29274767/development-of-corticospinal-motor-excitability-and-cortical-silent-period-from-mid-childhood-to-adulthood-a-navigated-tms-study
#20
Laura Säisänen, Petro Julkunen, Timo Lakka, Virpi Lindi, Mervi Könönen, Sara Määttä
OBJECTIVES: We characterized the maturation of the excitability of the motor cortex and corticospinal tract from childhood to adulthood using electric field (EF) navigated TMS and correlated the results with manual dexterity. METHODS: Both hemispheres of healthy right-handed children (6-9 years, n=10), preadolescents (10-12 years, n=13), adolescents (14-17 years, n=12) and young adults (22-34 years, n=12) of both genders were examined. The optimal cortical representation site and resting motor threshold (rMT) were determined for the abductor pollicis brevis muscle...
December 20, 2017: Neurophysiologie Clinique, Clinical Neurophysiology
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