Search results for " Disability"
showing 10 items of 673 documents
Effects of unstable shoes on trunk muscle activity in patients with chronic low back pain
2018
Este artículo se encuentra disponible en la página web de la revista en la siguiente URL: https://www.sciencedirect.com/science/article/abs/pii/S0966636218307252?via%3Dihub En este artículo científico también participan los siguientes autores: María Dolores Arguisuelas, Julio Doménech-Fernández, Daniel Sánchez-Zuriaga, Juan José Amer-Cuenca, Javier Martínez-Gramage, Francisco Javier Montañez-Aguilera y Juan Francisco Lisón. Este es el pre-print del siguiente artículo: Salvador Coloma, P., Arguisuelas, MD., Doménech-Fernández, J., Sánchez-Zuriaga, D., Amer-Cuenca, JJ., Martínez-Gramage, J. et al. (2018). Effects of unstable shoes on trunk muscle activity in patients with chronic low back pai…
Working memory, intelligence and knowledge base in adult persons with intellectual disability
2002
Abstract Previous studies have suggested that performance in working memory (WM) tasks is deficient in all etiologies and at all levels of intellectual disability (ID). Knowledge about WM structure, cognitive processes reflected in WM tasks, or the long-term memory contribution to WM capacity in ID is, however, not satisfactory. In the present study, WM capacity, WM task requirements, as well as effects between WM, skills, knowledge base, and intelligence were explored in two groups with matched fluid intelligence: adult persons with ID and normally developing children aged 3–6 years. The ID Group performed equally well as the children in WM tasks based on familiar semantic information and …
Loss‐of‐function variants in ARHGEF9 are associated with an X‐linked intellectual disability dominant disorder
2021
ARHGEF9 defects lead to an X-linked intellectual disability disorder related to inhibitory synaptic dysfunction. This condition is more frequent in males, with a few affected females reported. Up to now, sequence variants and gross deletions have been identified in males, while only chromosomal aberrations have been reported in affected females who showed a skewed pattern of X-chromosome inactivation (XCI), suggesting an X-linked recessive (XLR) disorder. We report three novel loss-of-function (LoF) variants in ARHGEF9: A de novo synonymous variant affecting splicing (NM_015185.2: c.1056G>A, p.(Lys352=)) in one female; a nonsense variant in another female (c.865C>T, p.(Arg289*)), that is, a…
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
2019
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca2+-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE). In functional expression studies, mutations lead to a dec…
Bacterial load and inflammatory response in sputum of alpha-1 antitrypsin deficiency patients with COPD
2019
Bruno Balbi,1 Claudia Sangiorgi,1 Isabella Gnemmi,1 Ilaria Ferrarotti,2 Davide Vallese,1 Elena Paracchini,1 Lorena Delle Donne,1 Luciano Corda,3 Paolo Baderna,4 Angelo Corsico,2 Mauro Carone,1 Paola Brun,5 Francesco Cappello,6,7 Fabio LM Ricciardolo,8 Paolo Ruggeri,9 Sharon Mumby,10 Ian M Adcock,10 Gaetano Caramori,9 Antonino Di Stefano11Istituti Clinici Scientifici Maugeri, IRCCS, Division of Pneumology and Laboratory of Cytoimmunopathology of the Heart and Lung, Veruno, Italy; 2Department of Internal Medicine and Medical Therapy, University of Pavia, Pavia, Italy; 3Medicina Respiratoria, Seconda Medicina Interna, Spedali Civili, Brescia, Italy; 4Division of Pneumology, Aosta Hospital, Aos…
Quality of life and disability:can they be improved by active postoperative rehabilitation after spinal fusion surgery in patients with spondylolisth…
2017
Purpose The aim of the study was to investigate the effectiveness of the postoperative 12-month exercise program compared to usual care on disability and health-related quality of life (HRQoL) in patients after lumbar spine fusion surgery (LSF). Methods Altogether, 98 patients with isthmic (31) or degenerative (67) spondylolisthesis were randomised to exercise therapy group (EG) (n = 48) or usual care group (UCG) (n = 50) 3 months after LSF. EG patients had home-based progressive strength and aerobic training program for 12 months. UCG patients received only oral and written instructions of exercises. Oswestry Disability Index (ODI) and HRQoL (RAND-36) were evaluated at the time of randomiz…
Effects of immunomodulatory treatment with subcutaneous interferon beta-1a on cognitive decline in mildly disabled patients with relapsing-remitting …
2010
The objective of this study was to assess the effects of subcutaneous (sc) interferon beta-1a (IFNβ-1a) on cognition in mildly disabled patients with relapsing—remitting multiple sclerosis (RRMS). Patients aged 18—50 years with RRMS (McDonald criteria; Expanded Disability Status Scale score ≤4.0) were assigned IFNβ therapy at the physician’s discretion and underwent standardized magnetic resonance imaging, neurological examination and neuropsychological testing at the baseline and regular intervals for up to three years. This analysis included 459 patients who received sc IFNβ-1a (44 mcg: n = 236; 22 mcg: n = 223; three-year follow up was available for 318 patients). The hazard ratio for c…
Authorship in Facilitated Communication: An Analysis of 11 Cases
2014
Abstract. We studied the authorship of messages produced through facilitated communication (FC) for all users of FC in two comprehensive schools in a small city in Finland. The participants were 11 children with intellectual disabilities, including autism, all having used FC from 1 to 3 years. The test conditions involved open and blind information-passing tasks in which the participants were directed to write down the contents of written or pictorial stimuli. The results failed to validate FC as a method of communication for any participant or facilitator. An analysis of the messages produced under the FC condition revealed a large degree of facilitator influence on the content of the mess…
Do fatty acids help in overcoming reading difficulties? A double-blind, placebo-controlled study of the effects of eicosapentaenoic acid and carnosin…
2008
Background There are claims that dietary supplementation of unsaturated fatty acids could help children with dyslexia to overcome their reading problems. However, these claims have not yet been empirically tested. Methods This study was designed to test whether dietary supplementation was superior to placebo in treating reading, spelling or other reading-related skills of children with dyslexia. The experimental group (eicosapentaenoic acid, EPA, n = 30) ate dietary supplements and the control group (placebo, n = 31) placebos during the 90-day treatment period. The supplements contained omega-3 fatty acid (ethyl-EPA, 500 mg/day) and carnosine (400 mg/day). The groups were matched for read…
The physical activity patterns of adolescents with intellectual disabilities: A descriptive study
2014
Abstract Background Emerging data suggest that adolescents with intellectual disabilities (IDs) have lower physical activity (PA) levels and have a higher incidence of obesity than their peers without IDs. Objective To examine daily PA patterns (weekdays vs. weekend days) of adolescents with IDs among boys and girls. The contributions of PA at school, including school recesses and physical education time, and PA outside of school were also analyzed. Methods Participants included forty-nine adolescents with mild to moderate IDs (mean 15.3 years) from the Valencia region (Spain). Adolescents wore a pedometer for seven consecutive days to measure PA objectively and filled in a daily activity l…