Search results for "Intellect"
showing 10 items of 642 documents
An integrative model of the subjective well-being of staff working in intellectual disability services
2019
Abstract Background The detrimental effects of caregiving have been well documented. In order to compensate for the disadvantages of caring, research has also tried to identify factors associated to caregivers’ subjective well-being (SWB). Aims We aim at presenting an integrative model of SWB. Methods and procedures Sample consisted of 228 staff working with people with intellectual disabilities. Measures employed included three different components of self-care (social, internal and physical), mental and physical health, conscientiousness, hope, and life satisfaction. The model aimed to explain SWB, measured by life satisfaction, by several variables (self-care, mental and physical health,…
Respite care as a community care service: Factors associated with the effects on family carers of adults with intellectual disability in Taiwan
2008
This study examines the effects and associated factors of respite care, which was legislated as a community service for adults with an intellectual disability (ID) in Taiwan in 1997.A total of 116 family carers who live with an adult with ID and have utilised the respite care program were surveyed using standardised measures.The results suggest that the most notable effects of respite care include improvement in the carers' social support and life satisfaction, and relief of psychological stress and overall burden of care. The factors associated with these effects include the way the participants have used the respite care and the users' individual characteristics.How families used the resp…
Prevalence and incidence of workplace bullying among Spanish employees working with people with intellectual disability
2012
Abstract Background Although workplace bullying is a severe psychosocial risk with a high prevalence, there is a lack of studies addressing its incidence, particularly among staff working with people with intellectual disability. Objectives We examined the prevalence and incidence of workplace bullying in a sample of Spanish employees working with people with intellectual disability. The socio-demographic characteristics of victims and non-victims of workplace bullying were also analyzed. Methods Multicenter study with two phases (T1 and T2) carried out in Valencia (Spain). The sample consisted of 696 employees from 66 centers in T1. One year later (T2), 422 employees from 61 centers agreed…
Working memory and everyday cognition in adults with Down's syndrome.
2001
A number of previous studies have suggested that young people with Down's syndrome (DS) have a specific deficit of the phonological loop component of the working memory. However, there have also been studies which have proposed a specific deficit of the central executive component of working memory and suggested similarities of working memory functioning with patients with Alzheimer's disease. Fifteen middle-aged people with DS were matched for their individual scores of non-verbal intelligence to 15 individuals with mixed aetiology of intellectual disability. A versatile range of tasks was used in order to evaluate the functioning of working memory components. In addition, several everyday…
Incidence of savant syndrome in Finland
2000
The general incidence of Savant Syndrome was assessed in Finland. First, a survey was made of all 583 facilities which served people with mental retardation. Second, letters asking for information regarding people with Savant Syndrome were published in two key Finnish journals of the field. We received reports of 45 cases of Savant Syndrome. This makes an incidence rate of 1.4 per 1,000 people with mental retardation. The most common form of exceptional skills was calendar calculation, followed by feats of memory.
Physical fitness profile of elite athletes with intellectual disability
2006
The aim of this study was to investigate the physical fitness profile of high-performance athletes with intellectual disability (ID) in comparison with able-bodied individuals. Methods: Participants were 231 male and 82 female athletes. All evaluations were done using the EUROFIT physical fitness test. Results: In comparison with population data, both male and female athletes with ID score better for flexibility and upper body muscle endurance, but have similar or lower values for running speed, speed of limb movement, and strength measures. Compared with agematched physical education students, male athletes with ID score better for running speed and flexibility, and worse for strength. Fem…
De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome
2010
International audience; Interstitial deletions involving the 15q21.1 band are very rare. Only 4 of these cases have been studied using molecular cytogenetic techniques in order to confirm the deletion of the whole FBN1 gene. The presence of clinical features of the Marfan syndrome (MFS) spectrum associated with mental retardation has been described in only 2/4 patients. Here we report on a 16-year-old female referred for suspicion of MFS (positive thumb and wrist sign, scoliosis, joint hyperlaxity, high-arched palate with dental crowding, dysmorphism, mitral insufficiency with dystrophic valve, striae). She had therefore 3 minor criteria according to the Ghent nosology. She also had speech …
Dyke-Davidoff-Masson syndrome: case report of fetal unilateral ventriculomegaly and hypoplastic left middle cerebral artery
2013
Prenatal ultrasonographic detection of unilateral cerebral ventriculomegaly arises suspicion of pathological condition related to cerebrospinal fluid flow obstruction or cerebral parenchimal pathology. Dyke-Davidoff-Masson syndrome is a rare condition characterized by cerebral hemiatrophy, calvarial thickening, skull and facial asymmetry, contralateral hemiparesis, cognitive impairment and seizures. Congenital and acquired types are recognized and have been described, mainly in late childhood, adolescence and adult ages. We describe a female infant with prenatal diagnosis of unilateral left ventriculomegaly in which early brain MRI and contrast enhanced-MRI angiography, showed cerebral left…
Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary toVPS13Bmutations
2013
Over one hundred VPS13B mutations are reported in Cohen syndrome (CS). Most cases exhibit a homogeneous phenotype that includes intellectual deficiency (ID), microcephaly, facial dysmorphism, slender extremities, truncal obesity, progressive chorioretinal dystrophy, and neutropenia. We report on a patient carrying two VPS13B splicing mutations with an atypical phenotype that included microcephaly, retinopathy, and congenital neutropenia, but neither obesity nor ID. RNA analysis of the IVS34+2T_+3AinsT mutation did not reveal any abnormal splice fragments but mRNA quantification showed a significant decrease in VPS13B expression. RNA sequencing analysis up- and downstream from the IVS57+2T>C…
X-inactivation pattern in three cases of X/autosome translocation.
1978
We describe an X/15 translocation which was balanced in a phenotypically normal mother [46,X,t(X;15)(p22;q15)] and unbalanced in her phenotypically abnormal daughter [46,X,der(X),t(X;15)(p22;q15)mat]. A third case involves a balanced X/21 translocation in a girl with a multiple congenital anomaly-retardation syndrome [46,X,t(X;21)(p11;p11?)]. 5-BrdU acridine orange banding on lymphocytes revealed late replication of the normal X chromosome in the mother and of the normal or abnormal X chromosome in the two other cases. Our findings are only partially consistent with previous observations. All X-inactivation patterns can be explained by random inactivation and subsequent selection against sp…