Search results for " DISABILITY"
showing 10 items of 673 documents
Benefit of hearing aid use in the elderly: the impact of age, cognition and hearing impairment
2018
Il beneficio protesico e il ruolo delle abilità cognitive, dell’età e del deficit uditivo nel paziente anziano.Questo studio analizza il beneficio protesico in un campione di soggetti anziani (n = 102, età media 81,1 anni), indagando il ruolo svolto dall’età, dal deficit uditivo e dalle abilità cognitive. Il beneficio protesico è stato valutato sia come miglioramento delle caratteristiche audiometriche con protesi (in termini di soglie tonali e soglie di percezione del parlato in quiete e nel rumore) sia come diminuzione della percezione della disabilità e dell’handicap dovuti alla ipoacusia. Sono state valutate diverse abilità cognitive, tra cui la memoria a breve termine, le funzioni esec…
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment
2019
VAMP2 encodes the vesicular SNARE protein VAMP2 (also called synaptobrevin-2). Together with its partners syntaxin-1A and synaptosomal-associated protein 25 (SNAP25), VAMP2 mediates fusion of synaptic vesicles to release neurotransmitters. VAMP2 is essential for vesicular exocytosis and activity-dependent neurotransmitter release. Here, we report five heterozygous de novo mutations in VAMP2 in unrelated individuals presenting with a neurodevelopmental disorder characterized by axial hypotonia (which had been present since birth), intellectual disability, and autistic features. In total, we identified two single-amino-acid deletions and three non-synonymous variants affecting conserved resid…
Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene.
2013
We report on three males with de novo overlapping 7.5, 9.8, and 10 Mb duplication of chromosome 20q11.2. Together with another patient previously published in the literature with overlapping 20q11 microduplication, we show that such patients display common clinical features including metopic ridging/trigonocephaly, developmental delay, epicanthal folds, and short hands. The duplication comprised the ASXL1 gene, in which de novo heterozygous nonsense or truncating mutations have recently been reported in patients with Borhing-Opitz syndrome. Because of craniofacial features in common with Borhing-Opitz syndrome, in particular metopic ridging/trigonocephaly, we suggest that duplication of ASX…
Variable phenotype in 17q12 microdeletions: Clinical and molecular characterization of a new case
2014
Microdeletions of 17q12 including the hepatocyte nuclear factor 1 beta (HNF1B) gene, as well as point mutations of this gene, are associated with the Renal Cysts and Diabetes syndrome (RCAD, OMIM 137920) and genitourinary alterations. Also, microdeletions encompassing HNF1B were identified as a cause of Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH, OMIM 277000) in females and, recently, were associated with intellectual disability, autistic features, cerebral anomaly and facial dysmorphisms. In this report, we describe a boy with a deletion in 17q12 region detected by SNP array, encompassing the HNF1B gene, that showed dysmorphic features, intellectual disability (ID), serious speech delay…
Power of lower extremities is most important determinant of agility among physically inactive or active adult people
2018
OBJECTIVE The purpose of this cross-sectional study was to determine the relationships between agility, running speed, jumping height and length, body mass index, self-report pain in back and in lower extremities, personal factors as self-report health and fitness, and leisure time physical activity in physically inactive or active adult people. METHODS Altogether, 233 healthy subjects, 149 women (43.0 ± 7.3 years) and 84 men (44.0 ± 7.7 years), participated into study. Outcome measures were described in the International Classification of Functioning, Disability and Health domains. RESULTS Multiple regression analysis showed that jumping length explained 24.6% and 15.3% of the variance ass…
Global burden of 369 diseases and injuries in 204 countries and territories, 1990–2019: a systematic analysis for the Global Burden of Disease Study …
2020
Publisher's version (útgefin grein)
Trajectories of mobility limitations over 24 years and their characterization by shift work and leisure-time physical activity in midlife.
2019
Abstract Background We aimed to investigate trajectories of mobility limitations (MLs) over a period of 24 years. In addition, we aimed to study how shift work and leisure-time physical activity (LTPA) in midlife predict assignment to MLs trajectories separately for those retired on statutory pensions (SPs) and on disability pensions (DPs). Methods Subjects who responded MLs questionnaires (1985–2009, N = 3048) in Finnish Longitudinal Study on Aging Municipal Employees were included in this prospective cohort study. LTPA and shift work were measured during baseline. International Classification of Functioning was used to code MLs. Growth mixture modeling was used to identify the trajectorie…
Early Cognitive Precursors of Children's Mathematics Learning Disability and Persistent Low Achievement: A 5-Year Longitudinal Study.
2018
Mathematical difficulties have been distinguished as mathematics learning disability (MLD) and persistent low achievement (LA). Based on 1,880 Finnish children who were followed from kindergarten (age 6) to fourth grade, this study examined the early risk factors for MLD and LA. Distinct groups of MLD (6.0% of the sample) and LA (25.7%) children were identified on the basis of their mathematics performance between first and fourth grades with latent class growth modeling. Impairment in the same set of cognitive skills, including language, spatial, and counting skills, was found to underlie MLD and LA. The finding highlights the importance of monitoring mathematical development across the ea…
Predictive Score Card in Lumbar Disc Herniation: Is It Reflective of Patient Surgical Success after Discectomy?
2016
Does the Finneson–Cooper score reflect the true value of predicting surgical success before discectomy? The aim of this study was to identify reliable predictors for surgical success two year after surgery for patients with LDH. Prospective analysis of 154 patients with LDH who underwent single-level lumbar discectomy was performed. Pre- and post-surgical success was assessed by the Oswestry Disability Index (ODI) over a 2-year period. The Finneson-Cooper score also was used for evaluation of the clinical results. Using the ODI, surgical success was defined as a 30% (or more) improvement on the ODI score from the baseline. The ODI was considered the gold standard in this study. Finally, the…
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency
2020
International audience; PURPOSE: Lamb-Shaffer syndrome (LAMSHF) is a neurodevelopmental disorder described in just over two dozen patients with heterozygous genetic alterations involving SOX5, a gene encoding a transcription factor regulating cell fate and differentiation in neurogenesis and other discrete developmental processes. The genetic alterations described so far are mainly microdeletions. The present study was aimed at increasing our understanding of LAMSHF, its clinical and genetic spectrum, and the pathophysiological mechanisms involved.METHODS: Clinical and genetic data were collected through GeneMatcher and clinical or genetic networks for 41 novel patients harboring various ty…