Search results for "disability"
showing 10 items of 989 documents
Intra-Rater Test-Retest Reliability of a Modified Child Functioning Module, Self-Report Version
2020
Determining disability prevalence is a growing area for population statistics, especially among young adolescents. The Washington Group on Disability Statistics is one source of reporting disabilities through functional difficulties. Yet, young adolescents self-reporting through this measure is in its infancy. The purpose of this study was to carry out an intra-rater test-retest reliability study on a modified set of items for self-reporting functional difficulties. Young adolescents (N = 74
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 …
Early life stress and frailty in old age: the Helsinki birth cohort study
2018
Background: Evidence suggests that early life stress (ELS) may extend its effect into adulthood and predispose an individual to adverse health outcomes. We investigated whether wartime parental separation, an indicator of severe ELS, would be associated with frailty in old age. Methods: Of the 972 participants belonging to the present sub-study of the Helsinki Birth Cohort Study, 117 (12. 0%) had been evacuated abroad unaccompanied by their parents in childhood during World War II. Frailty was assessed at a mean age of 71 years according to Fried's criteria. Results: Thirteen frail men (4 separated and 9 non-separated) and 20 frail women (2 separated and 18 non-separated) were identified. C…
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…
Active aging – resilience and external support as modifiers of the disablement outcome: AGNES cohort study protocol
2018
Background: Population aging increases the need for knowledge on positive aspects of aging, and contributions of older people to their own wellbeing and that of others. We defined active aging as an individual’s striving for elements of wellbeing with activities as per their goals, abilities and opportunities. This study examines associations of health, health behaviors, health literacy and functional abilities, environmental and social support with active aging and wellbeing. We will develop and validate assessment methods for physical activity and physical resilience suitable for research on older people, and examine their associations with active aging and wellbeing. We will examine coho…
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…
Increased interleukin-6 and C-reactive protein levels after instrumented lumbar spine fusion in older patients
2019
Purpose: Interleukin 6 (IL-6) and the acute phase C-reactive protein (CRP) blood concentrations after lumbar spine fusion may be affected by age. The purpose of this prospective observational study was to assess postoperative serum levels of pro-inflammatory IL-6 and CRP after instrumented lumbar spine fusion surgery. We hypothesized that older patients would have increased levels of IL-6 and CRP after surgery. Methods: IL-6 and high-sensitive CRP biochemical marker levels were measured before instrumented spinal fusion, and postoperatively at 1 and 3 days, 6 weeks, and 3 months. The 49 patients in this sample were divided into two groups: age ≤ 60 years (n = 23) and age > 60 years (n = 26)…
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…
Retirement as a predictor of physical functioning trajectories among older businessmen
2022
Abstract Background Associations between retirement characteristics and consequent physical functioning (PF) are poorly understood, particularly in higher socioeconomic groups, where postponing retirement has had both positive and negative implications for PF. Methods Multiple assessments of PF, the first of which at the mean age of 73.3 years, were performed on 1709 men who were retired business executives and managers, using the RAND-36/SF-36 instrument, between 2000 and 2010. Questionnaire data on retirement age and type of pension was gathered in 2000. Five distinct PF trajectories were created using latent growth mixture modelling. Mortality- and covariate-adjusted multinomial regressi…