Search results for "Disability"
showing 10 items of 989 documents
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…
The Healthy Nordic Diet and Mediterranean Diet and Incidence of Disability 10 Years Later in Home-Dwelling Old Adults.
2019
Background/Objective: Diet has a major impact on a person's health. However, limited information exists on the long-term role of the whole diet on disability. We investigated the association of the healthy Nordic diet and the Mediterranean diet with incident disability 10 years later. Design: Longitudinal, with a follow-up of 10 years. Settings/Participants: A total of 962 home-dwelling men and women from the Helsinki Birth Cohort Study, mean age 61.6 years, who were free of disability at baseline. Measurements: At baseline, 2001-2004, the Nordic diet score (NDS) and modified Mediterranean diet score (mMDS) were calculated using a validated 128-item food-frequency questionnaire. Higher scor…
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…
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder
2021
International audience; Ephrin receptor and their ligands, the ephrins, are widely expressed in the developing brain. They are implicated in several developmental processes that are crucial for brain development. Deletions in genes encoding for members of the Eph/ephrin receptor family were reported in several neurodevelopmental disorders. The ephrin receptor A7 gene (EPHA7) encodes a member of ephrin receptor subfamily of the protein-tyrosine kinase family. EPHA7 plays a role in corticogenesis processes, determines brain size and shape, and is involved in development of the central nervous system. One patient only was reported so far with a de novo deletion encompassing EPHA7 in 6q16.1. We…
20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition
2013
Intellectual disability (ID) is characterized by an extraordinary genetic heterogeneity, with >250 genes that have been implicated in monogenic forms of ID. Because this complexity precluded systematic testing for mutations and because clinical features are often non-specific, for some of these genes only few cases or families have been unambiguously documented. It is the case of the X-linked gene encoding monoamine oxidase A (MAOA), for which only one nonsense mutation has been identified in Brunner syndrome, characterized in a single family by mild non-dysmorphic ID and impulsive, violent and aggressive behaviors. We have performed targeted high-throughput sequencing of 220 genes, includi…
Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutat…
2008
Monocarboxylate transporter 8 (MCT8 or SLC16A2) is important for the neuronal uptake of triiodothyronine (T3) in its function as a specific and active transporter of thyroid hormones across the cell membrane, thus being essential for human brain development. We report on a German male with Allan-Herndon-Dudley syndrome presenting with severe intellectual and motor disability, paroxysmal dyskinesia combined with truncal muscular hypotonia, and peripheral muscular hypertonia at his current age of 9 years. Additionally, the patient has a lesion in the left putamen region revealed by magnetic resonance imaging and elevated serum T3 levels. The male appeared to have a hemizygous mutation (R271H)…
Is it wrong to deliberately conceive or give birth to a child with mental retardation?
2002
This paper discusses the issues of deciding to have a child with mental retardation, and of terminating a pregnancy when the future child is known to have the same disability. I discuss these problems by criticizing a utilitarian argument, namely, that one should act in a way that results in less suffering and less limited opportunity in the world. My argument is that future parents ought to assume a strong responsibility towards the well-being of their prospective children when they decide to reproduce. The moral point in cases in which our acts affect the well-being of future children should be expressed strictly in terms of parents' culpability. Future children thus do not have current m…
Fatigue, Physical Disability and Self-Efficacy as Predictors of the Acceptance of Illness and Health-Related Quality of Life in Patients with Multipl…
2021
Multiple sclerosis (MS) is a chronic progressive demyelinating disease of the central nervous system that leads to permanent disability and many neurological symptoms, making everyday functioning difficult. The predictors of the acceptance of illness and the health-related quality of life in people with MS include the degree of disability, neurological symptoms and psychosocial factors, such as personal resources. The aim of our study is to determine the relationships among disability, fatigue, self-efficacy, acceptance of illness and quality of life. The study group consisted of 137 people diagnosed with multiple sclerosis—73 women and 64 men. EDSS, GNDS, LSES, AIS and MSIS-29 were u…