Search results for "disability"
showing 10 items of 989 documents
Borderline intellectual functioning: an increased risk of severe psychiatric problems and inability to work
2019
Background The use of facilities such as disability pension, psychiatric care, health care and services for people with intellectual disabilities and borderline intellectual functioning (BIF) were compared with the general population and two other study groups comprising people with mild intellectual disabilities (MIDs) and learning problems (LPs). Methods The population-based sample (N = 416,973), 'Finland-in-Miniature', was gathered in 1962 and followed until 1998. For the purpose of the present study, three groups were formed: BIF (n = 416), MID (n = 312) and LP (n = 284). The use of services was examined with the help of national registers. Results As compared with the general populatio…
Cognitive and non-cognitive factors in educational and occupational outcomes-Specific to reading disability?
2020
Low education and unemployment are common adult-age outcomes associated with childhood RD (c-RD). However, adult-age cognitive and non-cognitive factors associated with different outcomes remain unknown. We studied whether these outcomes are equally common among individuals with c-RD and controls and whether these outcomes are related to adult-age literacy skills or cognitive and non-cognitive factors or their interaction with c-RD. We examined adult participants with c-RD (n = 48) and their matched controls (n = 37). Low education was more common among c-RD than the controls, whereas long-term unemployment was equally common in both groups. Moreover, adult-age literacy skills, cognitive sk…
Reconciliation of work and care among lone mothers of adults with intellectual disabilities: the role and limits of care capital.
2014
In this study, the concept of social capital is applied to an exploration of Guanxi (social networking to create good relationships) among working lone mothers of adults with intellectual disabilities (ID) in Taiwan. Using in-depth interviews, this study explores the role of social capital, here referred to as 'care capital', in making it possible for working lone mothers to combine their roles as family carers and workers. Eleven divorced or widowed mothers combining their paid work with long-term care responsibilities were recruited from a survey or through NGOs and were interviewed at their home between October 2008 and July 2010. An interpretative phenomenological approach was adopted f…
Quality of Life and Occupational Disability in Endocrine Orbitopathy
2009
SUMMARY Background: In endocrine orbitopathy (EO), disfiguring proptosis and diplopia impair patients' quality of life both at home and at work. Methods: From late 2006 to the beginning of 2008, 250 outpatients in an interdisciplinary thyroid and eye clinic filled out a questionnaire about their quality of life, occupational disability, and use of psychotherapy. 400 physicians who referred their EO patients to the clinic also participated in a survey on these issues. Results: 45% of the patients complained of restrictions in their daily activities, and 38% reported impaired selfperception. 36% were on sick leave because of EO. 28% were disabled, 5% had retired early, and 3% had lost their j…
The Effectiveness Of Radial Extracorporeal Shock Wave Therapy In Patients With Chronic Low Back Pain: A Prospective, Randomized, Single-Blinded Pilot…
2019
Karolina Walewicz,1 Jakub Taradaj,2,3 Katarzyna Rajfur,1 Kuba Ptaszkowski,4 MichaÅ Tomasz Kuszewski,2 MirosÅaw Sopel,5 Robert Dymarek5 1Faculty of Physiotherapy, Opole Medical School, Opole, Poland; 2Institute of Physiotherapy and Health Sciences, Academy of Physical Education, Katowice, Poland; 3College of Rehabilitation Sciences, University of Manitoba, Winnipeg, MB, Canada; 4Department of Physiotherapy, Wroclaw Medical University, Wroclaw, Poland; 5Department of Nervous System Diseases, Wroclaw Medical University, Wroclaw, PolandCorrespondence: Robert DymarekDepartment of Nervous System Diseases, Faculty of Health Sciences, Wroclaw Medical University, Bartla 5, Wroclaw 51-618, PolandTe…
Fragile-X carrier females: evidence for a distinct psychopathological phenotype?
1996
The present study examined 35 mothers (29 premutation carriers) of children with fragile-X syndrome in measures of intelligence and psychiatric disorders by comparing them with two control groups: a) 30 mothers of children in the general population and b) 17 mothers of non-fra-X retarded children with autism. Premutation carriers had a higher frequency of affective disorders than mothers from the general population. Preliminary data indicate that normally intelligent premutation carriers of the fra-X genetic abnormality have a similar frequency of affective disorders (DSM-III-R criteria [APA, 1987]) than mothers of autistic children. Neither carriers of the premutation nor carriers of the f…
Tower of Hanoi and working memory in adult persons with intellectual disability
2001
Persons with intellectual disability (ID) have been found to perform more poorly than their mental age would suggest in the visuo-spatial problem solving task Tower of Hanoi (TOH). Inefficient performance has been assumed to be related to inability to use sophisticated problem solving strategies because of restricted working memory capacity. In the present study, the TOH performance of adult persons with ID was found to be equal to that of fluid-intelligence-matched general children. However, persons with ID violated the rules of the TOH more often, and needed more trials to solve the TOH problems than the children did. Visuo-spatial and executive working memory tasks were significantly con…
Harmonization of real-world studies in multiple sclerosis: Retrospective analysis from the rirems group
2020
Background: Worldwide multiple sclerosis (MS) centers have coordinated their efforts to use data acquired in clinical practice for real-world observational studies. In this retrospective study, we aim to harmonize outcome measures, and to evaluate their heterogeneity within the Rising Italian Researchers in MS (RIReMS) study group. Methods: RIReMS members filled in a structured questionnaire evaluating the use of different outcome measures in clinical practice. Thereafter, thirty-four already-published papers from RIReMS centers were used for heterogeneity analyses, using the DerSimonian and Laird random-effects method to compute the between-study variance (τ2). Results: Based on questionna…
Homozygous variants in the gene SCAPER cause syndromic intellectual disability
2019
The S-Phase Cyclin A Associated Protein In The ER (SCAPER) gene is a ubiquitously expressed gene with unknown function in the brain. Recently, biallelic SCAPER variants were described in four patients from three families with retinitis pigmentosa (RP) and intellectual disability (ID). Here, we expand the spectrum of pathogenic variants in SCAPER and report on 10 further patients from four families with ID, RP, and additional dysmorphic features carrying homozygous variants in SCAPER. The variants found comprise frameshift, nonsense, and missense variants as well as an intragenic homozygous deletion, which spans SCAPER exons 15 and 16 and introduces a frameshift and a premature stop codon. A…
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developme…
2019
BackgroundBalanced chromosomal rearrangements associated with abnormal phenotype are rare events, but may be challenging for genetic counselling, since molecular characterisation of breakpoints is not performed routinely. We used next-generation sequencing to characterise breakpoints of balanced chromosomal rearrangements at the molecular level in patients with intellectual disability and/or congenital anomalies.MethodsBreakpoints were characterised by a paired-end low depth whole genome sequencing (WGS) strategy and validated by Sanger sequencing. Expression study of disrupted and neighbouring genes was performed by RT-qPCR from blood or lymphoblastoid cell line RNA.ResultsAmong the 55 pat…