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https://www.readbyqxmd.com/read/28922699/vision-assessment-in-persons-with-intellectual-disabilities
#1
Werner Eisenbarth
PURPOSE: To investigate the degree of visual acuity in workers with intellectual disabilities and the impact of vision on their working conditions. METHODS: We recruited 224 workers (mean age 43.77 years, SD ± 12.96; range, 19-72 years) from a workshop for those with intellectual disabilities, to participate in a vision examination program. The assessment consisted of objective refraction, visual acuity, ocular motility, near-point of convergence, cover/uncover test, stereo acuity and colour perception...
September 18, 2017: Clinical & Experimental Optometry: Journal of the Australian Optometrical Association
https://www.readbyqxmd.com/read/28922315/validation-of-fear-of-falling-and-balance-confidence-assessment-scales-in-persons-with-dystonia
#2
M J Boyce, L Lam, F Chang, N Mahant, V S C Fung, L Bradnam
BACKGROUND AND PURPOSE: Falls are problematic for people living with neurological disorders and a fear of falling can impact on actual falls. Fear of falling is commonly assessed using the Falls Self-Efficacy Scale International (FES-I) or the Activities-specific Balance Confidence (ABC) Scale. These scales can predict risk of falling. We aimed to validate the FES-I and the ABC in persons with dystonia. METHODS: We conducted an online survey of people with dystonia, collecting information on demographics, 6-month falls history, dystonia disability, and the FES-I and ABC scales...
October 2017: Journal of Neurologic Physical Therapy: JNPT
https://www.readbyqxmd.com/read/28921528/practitioner-review-treatment-of-chronic-insomnia-in-children-and-adolescents-with-neurodevelopmental-disabilities
#3
REVIEW
Oliviero Bruni, Marco Angriman, Fabrizio Calisti, Alessandro Comandini, Giovanna Esposito, Samuele Cortese, Raffaele Ferri
BACKGROUND: Sleep disturbances, in particular insomnia, represent a common problem in children with neurodevelopmental disabilities (NDDs). Currently, there are no approved medications for insomnia in children by the US Food and Drug Administration or European Medicines Agency and therefore they are prescribed off-label. We critically reviewed pediatric literature on drugs as well as nonpharmacological (behavioral) interventions used for sleep disturbances in children with NDDs. METHODS: PubMed, Ovid (including PsycINFO, Ovid MEDLINE(®) , and Embase), and Web of Knowledge databases were searched through February 12, 2017, with no language restrictions...
September 18, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28921412/how-close-are-we-to-therapies-for-sanfilippo-disease
#4
REVIEW
Lidia Gaffke, Karolina Pierzynowska, Ewa Piotrowska, Grzegorz Węgrzyn
Sanfilippo disease is one of mucopolysaccharidoses (MPS), a group of lysosomal storage diseases characterized by accumulation of partially degraded glycosaminoglycans (GAGs). It is classified as MPS type III, though it is caused by four different genetic defects, determining subtypes A, B, C and D. In each subtype of MPS III, the primary storage GAG is heparan sulfate (HS), but mutations leading to A, B, C, and D subtypes are located in genes coding for heparan N-sulfatase (the SGSH gene), α-N-acetylglucosaminidase (the NAGLU gene), acetyl-CoA:α-glucosaminide acetyltransferase (the HGSNAT gene), and N-acetylglucosamine-6-sulfatase (the GNS gene), respectively...
September 18, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28919208/genetics-of-clubfoot-recent-progress-and-future-perspectives
#5
REVIEW
Sulman Basit, Khalid I Khoshhal
Clubfoot or talipes equinovarus (TEV) is an inborn three-dimensional deformity of leg, ankle and foot. It results from structural defects of several tissues of foot and lower leg leading to abnormal positioning of foot and ankle joints. TEV can lead to long-lasting functional disability, malformation and discomfort if left untreated. Substantial progress has been achieved in the management and diagnosis of limb defects; however, not much is known about the molecular players and signalling pathways underlying TEV disorder...
September 14, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28918392/cnvs-affecting-cancer-predisposing-genes-cpgs-detected-as-incidental-findings-in-routine-germline-diagnostic-chromosomal-microarray-cma-testing
#6
Josie Innes, Lisa Reali, Jill Clayton-Smith, Georgina Hall, Derek Hk Lim, George J Burghel, Kim French, Unzela Khan, Daniel Walker, Fiona Lalloo, D Gareth R Evans, Dominic McMullan, Eamonn R Maher, Emma R Woodward
BACKGROUND: Identification of CNVs through chromosomal microarray (CMA) testing is the first-line investigation in individuals with learning difficulties/congenital abnormalities. Although recognised that CMA testing may identify CNVs encompassing a cancer predisposition gene (CPG), limited information is available on the frequency and nature of such results. METHODS: We investigated CNV gains and losses affecting 39 CPGs in 3366 pilot index case individuals undergoing CMA testing, and then studied an extended cohort (n=10 454) for CNV losses at 105 CPGs and CNV gains at 9 proto-oncogenes implicated in inherited cancer susceptibility...
September 16, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28917696/brain-mapping-in-multiple-sclerosis-lessons-learned-about-the-human-brain
#7
REVIEW
Massimo Filippi, Paolo Preziosa, Maria A Rocca
The application of structural and functional magnetic resonance imaging (MRI) techniques in patients with multiple sclerosis (MS) has certainly helped to improve our understanding of the mechanisms responsible for clinical disability and cognitive impairment in this condition. The numerous studies performed in MS patients have also provided many lessons on the structure-function relationships in the human brain, which could be applied to healthy subjects and to patients affected by other neurological conditions...
September 13, 2017: NeuroImage
https://www.readbyqxmd.com/read/28915402/complete-immunization-coverage-and-its-determinants-among-children-in-malaysia-findings-from-the-national-health-and-morbidity-survey-nhms-2016
#8
K K Lim, Y Y Chan, A Noor Ani, J Rohani, Z A Siti Norfadhilah, M R Santhi
OBJECTIVES: The success of the Expanded Program on Immunization among children will greatly reduce the burden of illness and disability from vaccine preventable diseases. The aim of the study was to evaluate the complete immunization coverage and its determinants among children aged 12-23 months in Malaysia. STUDY DESIGN: Cross-sectional study. METHODS: Data on immunization were extracted from the 2016 National Health and Morbidity Survey...
September 12, 2017: Public Health
https://www.readbyqxmd.com/read/28914585/planning-future-care-services-analyses-of-investments-in-norwegian-municipalities
#9
Terje P Hagen, Laila Tingvold
AIMS: To analyse whether the Norwegian Central Government's goal of subsidizing 12,000 places in nursing homes or sheltered housing using an earmarked grant was reached and to determine towards which group of users the planned investments were targeted. METHODS: Data from the investment plans at municipal level were provided by the Norwegian Housing Bank and linked to variables describing the municipalities' financial situation as well as variables describing the local needs for services provided by Statistics Norway...
September 1, 2017: Scandinavian Journal of Public Health
https://www.readbyqxmd.com/read/28914499/copy-number-variants-of-ras-mapk-pathway-genes-in-patients-with-isolated-cryptorchidism
#10
F Rodríguez, C Vallejos, F Giraudo, N Unanue, M I Hernández, P Godoy, S Célis, R Martín-Arenas, M Palomares-Bralo, K E Heath, M T López, F Cassorla
Cryptorchidism is the most common congenital disorder in boys, but the cause for most cases remains unknown. Patients with Noonan Syndrome are characterized by a typical face, growth retardation, congenital heart defects, learning disabilities and cryptorchidism. Copy number variations of Ras/MAPK pathway genes are unusual in patients with several clinical features of Noonan Syndrome; however, they have not been studied in patients with only one feature of this condition, such as cryptorchidism. Our aim was to determine whether patients with isolated cryptorchidism exhibit Ras/MAPK pathway gene copy number variations (CNVs)...
September 2017: Andrology
https://www.readbyqxmd.com/read/28914378/the-spectrum-of-psoriatic-arthritis-in-a-south-african-cohort
#11
Jean-Paul Muzemb Kanyik, Annibale Coi, Asgar Ali Kalla
The aim of this study was to describe the clinical features of patients with psoriatic arthritis (PsA) in a South African cohort. This is a retrospective analysis of patients contributing to development of the international classification criteria for PsA, ClASsification criteria for Psoriatic ARthritis (CASPAR). Patients were all seen at the arthritis clinics at Groote Schuur Hospital, Cape Town. Demographic, clinical, laboratory and radiographic information was collected. This study describes the relevant findings relating to the clinical profile of the patients seen at our centre as well as the effect of family history and/or dactylitis in determining the severity of psoriatic arthritis...
September 15, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28912631/subacute-effects-of-cervicothoracic-spinal-thrust-non-thrust-in-addition-to-shoulder-manual-therapy-plus-exercise-intervention-in-individuals-with-subacromial-impingement-syndrome-a-prospective-randomized-controlled-clinical-trial-pilot-study
#12
Alexis A Wright, Megan Donaldson, Craig A Wassinger, Alicia J Emerson-Kavchak
OBJECTIVES: To determine the subacute effects of cervicothoracic spinal thrust/non-thrust in addition to shoulder non-thrust plus exercise in patients with subacromial pathology. METHODS: This was a randomized, single blinded controlled trial pilot study. This trial was registered at ClinicalTrials.gov (NCT01753271) and reported according to Consolidated Standards of Reporting Trials requirements. Patients were randomly assigned to either shoulder treatment plus cervicothoracic spinal thrust/non-thrust or shoulder treatment-only group...
September 2017: Journal of Manual & Manipulative Therapy
https://www.readbyqxmd.com/read/28912283/reaction-time-is-negatively-associated-with-corpus-callosum-area-in-the-early-stages-of-cadasil
#13
S Delorme, F De Guio, S Reyes, A Jabouley, H Chabriat, E Jouvent
BACKGROUND AND PURPOSE: Reaction time was recently recognized as a marker of subtle cognitive and behavioral alterations in the early clinical stages of CADASIL, a monogenic cerebral small-vessel disease. In unselected patients with CADASIL, brain atrophy and lacunes are the main imaging correlates of disease severity, but MR imaging correlates of reaction time in mildly affected patients are unknown. We hypothesized that reaction time is independently associated with the corpus callosum area in the early clinical stages of CADASIL...
September 14, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28911961/sociocultural-considerations-in-juvenile-arthritis-a-review
#14
REVIEW
Kimberly A Lewis, Sharon A Brown, Stefano Tiziani, Ruy Carrasco
PROBLEM: Juvenile Arthritis (JA) is one of the most common autoimmune diseases in children. A variety of sociocultural factors that influence health outcomes in children with JA have been examined in previous research. However, clinical guidelines to guide the care of these children lack support because this research has not been systematically examined and synthesized. ELIGIBILITY CRITERIA: Primary research articles from five internet databases were included if they were peer-reviewed articles in English of studies conducted in the U...
September 11, 2017: Journal of Pediatric Nursing
https://www.readbyqxmd.com/read/28911814/the-effect-of-patient-gender-on-outcomes-after-reverse-total-shoulder-arthroplasty
#15
Stephanie E Wong, Austin A Pitcher, David Y Ding, Nicola Cashman, Alan L Zhang, C Benjamin Ma, Brian T Feeley
BACKGROUND: Gender differences may exist for patients undergoing shoulder arthroplasty. Limited data suggest that women may have worse preoperative disability and outcomes. Our objective was to determine whether gender influences preoperative disability and patient-reported outcomes after reverse total shoulder arthroplasty. METHODS: Data were prospectively collected for patients who underwent reverse total shoulder arthroplasty for rotator cuff arthropathy or osteoarthritis with a rotator cuff tear at a single institution between 2009 and 2015...
September 11, 2017: Journal of Shoulder and Elbow Surgery
https://www.readbyqxmd.com/read/28910162/patient-engagement-is-related-to-impairment-reduction-during-digital-game-based-therapy-in-stroke
#16
David Putrino, Helma Zanders, Taya Hamilton, Avrielle Rykman, Peter Lee, Dylan J Edwards
OBJECTIVE: Upper limb impairment in the chronic phase of stroke recovery is persistent, disabling, and difficult to treat. The objectives of this study were to determine whether therapeutic enjoyment is related to clinical improvement after upper limb rehabilitation and to assess the feasibility of a therapy gaming system. MATERIALS AND METHODS: Ten chronic stroke survivors with persistent upper limb impairment were enrolled in the study. Upper limb impairment was evaluated by using the Fugl-Meyer Assessment of Upper Extremity Function (FMA-UE)...
September 14, 2017: Games for Health
https://www.readbyqxmd.com/read/28905670/a-model-to-facilitate-implementation-of-the-international-classification-of-functioning-disability-and-health-into-prosthetics-and-orthotics
#17
Gustav Jarl, Nerrolyn Ramstrand
BACKGROUND: The International Classification of Functioning, Disability and Health is a classification of human functioning and disability and is based on a biopsychosocial model of health. As such, International Classification of Functioning, Disability and Health seems suitable as a basis for constructing models defining the clinical P&O process. The aim was to use International Classification of Functioning, Disability and Health to facilitate development of such a model. Proposed model: A model, the Prosthetic and Orthotic Process (POP) model, is proposed...
September 1, 2017: Prosthetics and Orthotics International
https://www.readbyqxmd.com/read/28905130/clinico-serologic-features-of-statin-induced-necrotising-autoimmune-myopathy-in-a-single-centre-cohort
#18
Michael J Waters, Vidya Limaye
Statin-induced necrotising autoimmune myopathy (NAM) is a rare but disabling complication of statin therapy. Data regarding treatment and outcomes in these patients is sparse. We retrospectively identified those patients with a diagnosis of statin-induced NAM who were managed in a single-tertiary referral centre from January 2014 to January 2017. Data regarding clinical features, serology, antibody status and functional outcome was collected. We identified 16 patients diagnosed with statin-induced NAM. Truncal weakness was present in 9/16 patients, of which one patient presented with camptocormia...
September 13, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28903629/a-multidisciplinary-approach-for-developing-an-assessment-tool-for-touch-screen-devices
#19
Alexandra Danial-Saad, Lorenzo Chiari
AIM: The aim of this study was to describe the processes of reaching consensus regarding the assessment of the user's skills required to operate various touch screen devices. A five-step procedure was used to collect and validate the required skills by a multidisciplinary team of 52 experts. Content validity was calculated to determine the agreement levels between the experts. A comparison was made between the discipline groups in order to test correlation between each group and their choice of specific clusters of tasks...
September 14, 2017: Disability and Rehabilitation. Assistive Technology
https://www.readbyqxmd.com/read/28901547/cognitive-functioning-following-one-year-natalizumab-treatment-a-non-randomized-clinical-trial
#20
I Rorsman, C Petersen, P C Nilsson
OBJECTIVES: Cognitive impairment is common in multiple sclerosis (MS) and can have serious impact on social and occupational functioning. Natalizumab reduces relapse rates, magnetic resonance imaging (MRI) lesions, and progression of disability. Previous studies on cognitive functioning have not based inclusion on cognitive performance criteria. The aim of the present study was to determine any potential natalizumab-related cognitive effects on MS patients performing below normal limits on neuropsychological testing...
September 13, 2017: Acta Neurologica Scandinavica
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