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screening motor development

Linda L Hill, Jill Rybar, James Stowe, Jana Jahns
BACKGROUND: An estimated one in five drivers will be over 65 by 2030. Compared with their younger counterparts, older adults are more likely to experience health and functional impairments, including cognitive dysfunction, which may interfere with their ability to drive safely. Law enforcement officers, as part of the public safety community, need help in developing the necessary skills to identify and manage these medically affected drivers. METHODS: To address this need, in partnership with the California Highway Patrol (CHP), Training, Research and Education for Driving Safety (TREDS) at the University of California, San Diego, developed a certified two-hour training curriculum...
December 2016: Injury Epidemiology
Tamara Shiner, Anat Mirelman, Mali Gana Weisz, Anat Bar-Shira, Elissa Ash, Ron Cialic, Naomi Nevler, Tanya Gurevich, Noa Bregman, Avi Orr-Urtreger, Nir Giladi
Importance: Mutations in the glucocerebrosidase (GBA) gene are a risk factor for the development of dementia with Lewy bodies (DLB). These mutations are common among Ashkenazi Jews (AJ) and appear to have an effect on the natural history of the disease. Objectives: To evaluate the clinical and genetic characteristics of an AJ cohort of patients diagnosed with DLB, assess the association of phenotype of DLB with GBA mutations, and explore the effects of these mutations on the clinical course of the disease...
October 10, 2016: JAMA Neurology
Anna Maitre, Anna Maw, Uma Ramaswami, Sarah L Morley
BACKGROUND: A severe neurological abnormality has not been previously described in individuals with hereditary fructose intolerance, which typically presents early in childhood with severe metabolic acidosis and hypoglycemia. PATIENT DESCRIPTION: We describe a boy who by age five years had required multiple admissions to the pediatric intensive care unit for an aggressive and atypical, relapsing and remitting neuropathy with features of acute motor axonal neuropathy (AMAN)...
August 2, 2016: Pediatric Neurology
Patricia Villacé, Rosa M Mella, Meritxell Roura-Ferrer, María Valcárcel, Clarisa Salado, Amaia Castilla, Danel Kortazar
Parkinson disease (PD) is a prevalent neurodegenerative disease characterized by selective degeneration of dopaminergic neurons in the substantia nigra, causing tremor and motor impairment. Parkin protein, whose mutants are the cause of Parkinson disease type 2 (PARK2), has been mechanistically linked to the regulation of apoptosis and the turnover of damaged mitochondria. Several studies have implicated aberrant mitochondria as a key contributor to the development of PD. In the attempt to discover new drugs, high-content cell-based assays are becoming more important to mimic the nature of biological processes and their diversifications in diseases and will be essential for lead identification and the optimization of therapeutic candidates...
October 4, 2016: Journal of Biomolecular Screening
Bianca Mendonça, Barbara Sargent, Linda Fetters
AIM: To investigate whether standardized motor development screening and assessment tools that are used to evaluate motor abilities of children aged 0 to 2 years are valid in cultures other than those in which the normative sample was established. METHOD: This was a systematic review in which six databases were searched. Studies were selected based on inclusion/exclusion criteria and appraised for evidence level and quality. Study variables were extracted. RESULTS: Twenty-three studies representing six motor development screening and assessment tools in 16 cultural contexts met the inclusion criteria: Alberta Infant Motor Scale (n=7), Ages and Stages Questionnaire, 3rd edition (n=2), Bayley Scales of Infant and Toddler Development, 3rd edition (n=8), Denver Developmental Screening Test, 2nd edition (n=4), Harris Infant Neuromotor Test (n=1), and Peabody Developmental Motor Scales, 2nd edition (n=1)...
October 4, 2016: Developmental Medicine and Child Neurology
Sudhir Adhikari, Kalipatnam Seshagiri Rao
BACKGROUND: Perinatal asphyxia with hypoxic ischemic encephalopathy (HIE) causes significant mortality and morbidity in developing countries. There is limited information about long term neurodevelopmental outcome of infants with neonatal encephalopathy. METHODS: Term infants with the diagnosis of perinatal asphyxia were followed up in neurodevelopmental clinics of Manipal Teaching hospital, Nepal. Study design was prospective mixed longitudinal study. Prematurity, major congenital malformations, other intracranial pathology, birth weight <2500g and chromosomal abnormalities were excluded...
September 30, 2016: Brain & Development
Julie van der Zee, Peter Mariën, Roeland Crols, Sara Van Mossevelde, Lubina Dillen, Federica Perrone, Sebastiaan Engelborghs, Jo Verhoeven, Tine D'aes, Chantal Ceuterick-De Groote, Anne Sieben, Jan Versijpt, Patrick Cras, Jean-Jacques Martin, Christine Van Broeckhoven
OBJECTIVE: To investigate the molecular basis of a Belgian family with autosomal recessive adult-onset neuronal ceroid lipofuscinosis (ANCL or Kufs disease [KD]) with pronounced frontal lobe involvement and to expand the findings to a cohort of unrelated Belgian patients with frontotemporal dementia (FTD). METHODS: Genetic screening in the ANCL family and FTD cohort (n = 461) was performed using exome sequencing and targeted massive parallel resequencing. RESULTS: We identified a homozygous mutation (p...
October 2016: Neurology. Genetics
Yasmin Iles-Caven, Jean Golding, Steven Gregory, Alan Emond, Caroline M Taylor
As part of the Avon Longitudinal Study of Parents and Children (ALSPAC), measures of early child development were collected using both hands-on expert assessment (on a random 10% sub-sample) by trained psychologists at 18 months using the Griffiths Mental Development Scales (Extended 0-8 years) and from detailed questionnaires completed by the study mothers on the whole cohort using assessments based on the Denver Developmental Screening Test. The development determined by the psychologists on the 10% subsample showed a correlation of 0...
December 2016: Data in Brief
Anita J Hughes, Sarah A Redsell, Cris Glazebrook
CONTEXTS: Preterm infants are at an increased risk of neurodevelopmental delay. Some studies report positive intervention effects on motor outcomes, but it is currently unclear which motor activities are most effective in the short and longer term. OBJECTIVE: The aim of the study was to identify interventions that improve the motor development of preterm infants. DATA SOURCES: An a priori protocol was agreed upon. Seventeen electronic databases from 1980 to April 2015 and gray literature sources were searched...
September 16, 2016: Pediatrics
L Dasenbrock, A Heinks, M Schwenk, J M Bauer
BACKGROUND AND OBJECTIVE: Sensor technology, in particular wearable inertial sensors, has the potential to help researchers objectively assess the functionality of older adults. The following review provides an overview about the possible use of sensor technology to detect and prevent pre-frailty and frailty. METHOD: A systematic literature search in PubMed and the Cochrane Library was conducted. Articles were selected according to the following criteria: frail and/or pre-frail population, use of wearable and non-wearable sensor technology to measure or enhance human movements or activities of daily living and a focus on frailty assessment...
October 2016: Zeitschrift Für Gerontologie und Geriatrie
Y Wang, J-P Shi, Y-H Li, W-H Yang, Y-J Tian, J Gao, S-J Li
OBJECTIVE: We investigated the application of Alberta Infant Motor Scale (AIMS) in screening motor development delay in the follow-up of high-risk infants who were discharged from NICU, to explain the state of infants' motor development and propose early individualized intervention. PATIENTS AND METHODS: The study design was a randomized, single-blind trial by selecting patients between April 2015 and November 2015 in our hospital, children nerve recovery branch clinics and 77 cases of high-risk infants...
May 2016: European Review for Medical and Pharmacological Sciences
Josep M Comeron, Jordan Reed, Matthew Christie, Julia S Jacobs, Jason Dierdorff, Daniel F Eberl, J Robert Manak
Accurate and rapid identification or confirmation of single nucleotide polymorphisms (SNPs), point mutations and other human genomic variation facilitates understanding the genetic basis of disease. We have developed a new methodology (called MENA (Mismatch EndoNuclease Array)) pairing DNA mismatch endonuclease enzymology with tiling microarray hybridization in order to genotype both known point mutations (such as SNPs) as well as identify previously undiscovered point mutations and small indels. We show that our assay can rapidly genotype known SNPs in a human genomic DNA sample with 99% accuracy, in addition to identifying novel point mutations and small indels with a false discovery rate as low as 10%...
2016: Microarrays
Ji Ae Lee, Hyo Jin Son, Ji Hyun Kim, Ki Duk Park, Nari Shin, Hye Ri Kim, Eun Mee Kim, Dong Jin Kim, Onyou Hwang
The degenerative process of the nigral dopamine(DA)rgic neurons in Parkinson's disease (PD) involves both oxidative stress and neuroinflammation. In the present study, we aimed at developing a novel antioxidant and anti-inflammatory agent for PD therapy. Toward this end, we screened a novel focused library of isothiocyanate derivatives that we have generated for an anti-inflammatory property. We obtained a novel compound ITC-57 and found that ITC-57 effectively induced gene expression of the antioxidant enzymes NAD(P)H quinone oxidoreductase-1, the catalytic and modulatory subunits of glutamylcysteine ligase, and HO-1 in DAergic neuronal CATH...
September 6, 2016: Free Radical Research
Jisook Moon, Sigrid C Schwarz, Hyun-Seob Lee, Jun Mo Kang, Young-Eun Lee, Bona Kim, Mi-Young Sung, Günter Höglinger, Florian Wegner, Jin Su Kim, Hyung-Min Chung, Sung Woon Chang, Kwang Yul Cha, Kwang-Soo Kim, Johannes Schwarz
: : We have developed a good manufacturing practice for long-term cultivation of fetal human midbrain-derived neural progenitor cells. The generation of human dopaminergic neurons may serve as a tool of either restorative cell therapies or cellular models, particularly as a reference for phenotyping region-specific human neural stem cell lines such as human embryonic stem cells and human inducible pluripotent stem cells. We cultivated 3 different midbrain neural progenitor lines at 10, 12, and 14 weeks of gestation for more than a year and characterized them in great detail, as well as in comparison with Lund mesencephalic cells...
September 2, 2016: Stem Cells Translational Medicine
G Grolez, C Moreau, V Danel-Brunaud, C Delmaire, R Lopes, P F Pradat, M M El Mendili, L Defebvre, D Devos
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a fatal, rapidly progressive neurodegenerative disease that mainly affects the motor system. A number of potentially neuroprotective and neurorestorative disease-modifying drugs are currently in clinical development. At present, the evaluation of a drug's clinical efficacy in ALS is based on the ALS Functional Rating Scale Revised, motor tests and survival. However, these endpoints are general, variable and late-stage measures of the ALS disease process and thus require the long-term assessment of large cohorts...
2016: BMC Neurology
Laura Greiss Hess, Sarah E Fitzpatrick, Danh V Nguyen, Yanjun Chen, Kimberly N Gaul, Andrea Schneider, Kerrie Lemons Chitwood, Marwa Abd Al Azaim Eldeeb, Jonathan Polussa, David Hessl, Susan Rivera, Randi J Hagerman
OBJECTIVE: Observational studies and anecdotal reports suggest that sertraline, a selective serotonin reuptake inhibitor, may improve language development in young children with fragile X syndrome (FXS). METHODS: The authors evaluated the efficacy of 6 months of treatment with low-dose sertraline in a randomized, double-blind, placebo-controlled trial in 52 children with FXS aged 2 to 6 years. RESULTS: Eighty-one subjects were screened for eligibility, and 57 were randomized to sertraline (27) or placebo (30)...
October 2016: Journal of Developmental and Behavioral Pediatrics: JDBP
Stefani C Fontana, Debora Daniels, Thomas Greaves, Niaman Nazir, Jeff Searl, Brian T Andrews
Deformational plagiocephaly (DP) in infants has been associated with developmental delay that can last until adolescence. Despite this association and a 5-fold increase in incidence of DP over the past 2 decades, there are currently no guidelines regarding screening for developmental delay or identification of which infants with DP are at the greatest risk of delay. A prospective, nonrandomized study was performed. Infants diagnosed with DP who had no prior intervention were eligible for enrollment. Cranial deformity was measured by cross-cranial measurements using calipers, and developmental delay was measured using the Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III)...
August 24, 2016: Journal of Craniofacial Surgery
Itsuki Anzai, Keisuke Toichi, Eiichi Tokuda, Atsushi Mukaiyama, Shuji Akiyama, Yoshiaki Furukawa
Dominant mutations in Cu/Zn-superoxide dismutase (SOD1) gene have been shown to cause a familial form of amyotrophic lateral sclerosis (SOD1-ALS). A major pathological hallmark of this disease is abnormal accumulation of mutant SOD1 oligomers in the affected spinal motor neurons. While no effective therapeutics for SOD1-ALS is currently available, SOD1 oligomerization will be a good target for developing cures of this disease. Recently, we have reproduced the formation of SOD1 oligomers abnormally cross-linked via disulfide bonds in a test tube...
2016: Frontiers in Molecular Biosciences
Anna Anzulewicz, Krzysztof Sobota, Jonathan T Delafield-Butt
Autism is a developmental disorder evident from infancy. Yet, its clinical identification requires expert diagnostic training. New evidence indicates disruption to motor timing and integration may underpin the disorder, providing a potential new computational marker for its early identification. In this study, we employed smart tablet computers with touch-sensitive screens and embedded inertial movement sensors to record the movement kinematics and gesture forces made by 37 children 3-6 years old with autism and 45 age- and gender-matched children developing typically...
2016: Scientific Reports
Marta Rubio-Codina, M Caridad Araujo, Orazio Attanasio, Pablo Muñoz, Sally Grantham-McGregor
In low- and middle-income countries (LIMCs), measuring early childhood development (ECD) with standard tests in large scale surveys and evaluations of interventions is difficult and expensive. Multi-dimensional screeners and single-domain tests ('short tests') are frequently used as alternatives. However, their validity in these circumstances is unknown. We examined the feasibility, reliability, and concurrent validity of three multi-dimensional screeners (Ages and Stages Questionnaires (ASQ-3), Denver Developmental Screening Test (Denver-II), Battelle Developmental Inventory screener (BDI-2)) and two single-domain tests (MacArthur-Bates Short-Forms (SFI and SFII), WHO Motor Milestones (WHO-Motor)) in 1,311 children 6-42 months in Bogota, Colombia...
2016: PloS One
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