Search results for "disability"
showing 10 items of 989 documents
A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
2007
X-linked mental retardation has been traditionally divided into syndromic (S-XLMR) and non-syndromic forms (NS-XLMR), although the borderlines between these phenotypes begin to vanish and mutations in a single gene, for example PQBP1, can cause S-XLMR as well as NS-XLMR. Here, we report two maternal cousins with an apparently X-linked phenotype of mental retardation (MR), microphthalmia, choroid coloboma, microcephaly, renal hypoplasia, and spastic paraplegia. By multipoint linkage analysis with markers spanning the entire X-chromosome we mapped the disease locus to a 28-Mb interval between Xp11.4 and Xq12, including the BCOR gene. A missense mutation in BCOR was described in a family with …
NDST1 missense mutations in autosomal recessive intellectual disability.
2014
NDST1 was recently proposed as a candidate gene for autosomal recessive intellectual disability in two families. It encodes a bifunctional GlcNAc N-deacetylase/N-sulfotransferase with important functions in heparan sulfate biosynthesis. In mice, Ndst1 is crucial for embryonic development and homozygous null mutations are perinatally lethal. We now report on two additional unrelated families with homozygous missense NDST1 mutations. All mutations described to date predict the substitution of conserved amino acids in the sulfotransferase domain, and mutation modeling predicts drastic alterations in the local protein conformation. Comparing the four families, we noticed significant overlap in …
The latent nature of prolonged grief - A taxometric analysis: Results from a representative population sample
2017
Individuals suffering from prolonged grief disorder (PGD) show severe grief reactions after the death of a significant other, even beyond a period of grieving that is within a person's cultural and religious context. In addition to this core element, PGD can manifest in various ways. Symptoms may include persistent preoccupation, intense emotional pain, or impairment in important life domains. The symptoms, furthermore, have to be of culturally or religiously inappropriate extent or severity, taking into account different norms of grieving. PGD is discussed as a distinct diagnostic category in the revision of the International Classification of Diseases (ICD-11). Nosology of PGD has been hi…
Physical and psychosocial prerequisites of functioning in relation to work ability and general subjective well-being among office workers
2002
Objectives The purpose of the study was to investigate the physical and psychological prerequisites of functioning, as well as the social environment at work and personal factors, in relation to work ability and general subjective well-being in a group of office workers. Methods The study was a descriptive cross-sectional investigation, using path analysis, of office workers. The subjects comprised 88 volunteers, 24 men and 64 women, from the same workplace [mean age 45.7 (SD 8.6) years]. The independent variables were measured using psychosocial and physical questionnaires and physical measurements. The first dependent variable, work ability, was measured by a work ability index. The secon…
Efficacy of a proprioceptive exercise program in patients with nonspecific neck pain: a randomized controlled trial.
2020
BACKGROUND Nonspecific neck pain is associated with chronic pain, disability, reduced cervical mobility, postural control disorders and impaired proprioceptive control. AIM The aim of this study was to compare the effectiveness of two therapeutic exercise programs (i.e. cervical proprioception and cervical mobility) in reducing pain and disability in individuals with nonspecific neck pain. We further aimed to compare the effectiveness of the two treatments in improving pressure pain threshold, cervical range of motion and head repositioning accuracy. DESIGN This study was designed as a randomized controlled trial. SETTING This study took place in a private rehabilitation clinic. POPULATION …
Brain atrophy and lesion load in a large population of patients with multiple sclerosis
2005
Objective: To measure white matter (WM) and gray matter (GM) atrophy and lesion load in a large population of patients with multiple sclerosis (MS) using a fully automated, operator-independent, multiparametric segmentation method. Methods: The study population consisted of 597 patients with MS and 104 control subjects. The MRI parameters were abnormal WM fraction (AWM-f), global WM-f (gWM-f), and GM fraction (GM-f). Results: Significant differences between patients with MS and control subjects included higher AWM-f and reduced gWM-f and GM-f. MRI data showed significant differences between patients with relapsing-remitting and secondary progressive forms of MS. Significant correlations bet…
Cognitive impairment in multiple sclerosis can be predicted by imaging early in the disease.
2008
Background: Cognitive impairment is common in multiple sclerosis (MS) and adds significantly to the burden of the disease. The ability to predict future cognitive impairment from imaging obtained at disease onset has not been investigated. Methods: 62 patients imaged within 3 months of a clinically isolated syndrome were assessed neuropsychologically 7 years later. Baseline and periodic MRI measures of lesions, atrophy and normal-appearing white and grey matter were regressed against neuropsychological scores to explore the best predictors of cognitive outcome. Results: 28 patients had developed clinically definite MS at follow-up and a further nine met revised McDonald criteria for MS. Def…
Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases.
2019
Alpha-mannosidosis (AM) is a very rare (prevalence: 1/500000 births) autosomal recessive lysosomal storage disorder. It is characterized by multi-systemic involvement associated with progressive intellectual disability, hearing loss, skeletal anomalies, and coarse facial features. The spectrum is wide, from very severe and lethal to a milder phenotype that usually progresses slowly. AM is caused by a deficiency of lysosomal alpha-mannosidase. A diagnosis can be established by measuring the activity of lysosomal alpha-mannosidase in leucocytes and screening for abnormal urinary excretion of mannose-rich oligosaccharides. Genetic confirmation is obtained with the identification of MAN2B1 muta…
Cross validation of the 1-mile walking test for men with mental retardation.
1997
The purpose of this study was to cross validate the equation developed by Rintala et al. (1992) to estimate the cardiorespiratory efficiency of men with mental retardation (MR). Subjects were 19 healthy men (27 ± 8 yr) with MR (IQ = 58 ± 12). Following familiarization, a graded maximal treadmill test and two 1-mile walk tests (Rockport Fitness Walking Test, RFWT) were administered. The peak VO 2 value was the criterion measure used to cross validate the equation. The equation was: Peak VO 2 (ml.kg -1 .min -1 ) = 101.92 - 2.356 (MILE) -0.420 (WEIGHT). The mean differences were 2.04 (MILE 1 )(P = 0.02) and 2.43 (MILE 2 )(P = 0.004) ml.kg -1 .min -1 . A significant positive correlation was fou…
The structure and correlates of self-injurious behavior in an institutional setting
2001
The prevalence of self-injurious behavior (SIB) in an institution for people with mental retardation was investigated. The relationship between SIB and age, sex, level of retardation, length of institutionalization, adaptive behavior, and probable causes of mental retardation was examined. A factor analysis on the topographies of SIB indicated the existence of two forms of SIB, stereotyped and social. The results are discussed in terms of probable causes of SIB.