Search results for " DISABILITY"
showing 10 items of 673 documents
3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psych…
2013
Abstract: Background Since the advent of array-CGH, numerous new microdeletional syndromes have been delineated while others remain to be described. Although 3q29 subtelomeric deletion is a well-described syndrome, there is no report on 3q interstitial deletions. Methods We report for the first time seven patients with interstitial deletions at the 3q27.3q28 locus gathered through the Decipher database, and suggest this locus as a new microdeletional syndrome. Results The patients shared a recognisable facial dysmorphism and marfanoid habitus, associated with psychosis and mild to severe intellectual disability (ID). Most of the patients had no delay in gross psychomotor acquisition, but ha…
A dominant gene for developmental dyslexia on chromosome 3.
2001
Developmental dyslexia is a neurofunctional disorder characterised by an unexpected difficulty in learning to read and write despite adequate intelligence, motivation, and education. Previous studies have suggested mostly quantitative susceptibility loci for dyslexia on chromosomes 1, 2, 6, and 15, but no genes have been identified yet. We studied a large pedigree, ascertained from 140 families considered, segregating pronounced dyslexia in an autosomal dominant fashion. Affected status and the subtype of dyslexia were determined by neuropsychological tests. A genome scan with 320 markers showed a novel dominant locus linked to dyslexia in the pericentromeric region of chromosome 3 with a m…
Maternal history of reading difficulty is associated with reduced language-related gray matter in beginning readers.
2012
Family history and poor preliteracy skills (referred to here as familial and behavioral risk, respectively) are critical predictors of developmental dyslexia. This study systematically investigated the independent contribution of familial and behavioral risks on brain structures, which had not been explored in past studies. We also examined the differential effects of maternal versus paternal history on brain morphometry, and familial risk dimensionally versus categorically, which were also novel aspects of the study. We assessed 51 children (5 to 6 years of age) with varying degrees of familial and behavioral risks for developmental dyslexia and examined associations with brain morphometry…
Familial dyslexia: neurocognitive and genetic correlation in a large Finnish family.
2007
Neuropsychological findings of individuals with dyslexia (n=24) from a large, three-generation Finnish family are presented. We have previously performed whole genome linkage scanning in this family and found that dyslexia in this kindred segregates with a single locus in the pericentromeric area of chromosome 3. Those included in the analyses were carefully evaluated for general cognitive ability, reading and spelling skills, and reading-related neurocognitive skills. The neurocognitive type of dyslexia segregating in this family consisted of deficits in phonological awareness, verbal short-term memory, and rapid naming. Severe dyslexia also seemed to be connected with a general language d…
Clinical analysis following lumbar interspinous devices implant: where we are and where we go
2014
Objectives:We present our experience with patients treated with interspinous devices who are affected by neurogenic intermittent claudication (NIC) or lumbar disc herniation (LDH) where the interspinous system has been inserted following microdiscectomy.Study design:Retrospective study.Methods:This study included patients (n=100) with NIC secondary to lumbar spinal stenosis (group 1), and patients (n=100) with LDH (group 2) in whom the interspinous device has been implanted following radicular decompression in a period spanning 6 years. The latter have been compared with a homogenous group of patients (n=100) where no interspinous system has been implanted following microdiscectomy (group 3…
Communication Deviances and Clarity Among the Mothers of Normally Achieving and Learning-Disabled Boys.
1994
The main purpose of the study was to reexamine the association between maternal communication deviances and learning disabilities in children. In this study, we adapted and extended the procedure used by Ditton, Green, and Singer (1987). A two-part experimental task was used: one in which the child could not request any clarification of mother's instructions, and another in which the mother and child could communicate. Both communication deviances and the clarity of mothers' communication were analyzed. The subjects were 60 mother-child pairs in which half of the children had learning disabilities and the other half were normally achieving children matched for age and parents' SES. The dyad…
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…
The effect of vibration therapy on neck myofascial trigger points: A randomized controlled pilot study
2020
[EN] Background: The purpose of this study was to evaluate the effect of low-frequency self-administered vibration therapy into myofascial trigger points in the upper trapezius and levator scapulae on patients with chronic non-specific neck pain. Methods: Twenty-eight patients with chronic non-specific neck pain were randomly assigned into a vibration group, receiving 10 self-applied sessions of vibration therapy in the upper trapezius and levator scapulae trigger points; or a control group, receiving no intervention. Self-reported neck pain and disability (Neck Disability Index) and pressure pain threshold were assessed at baseline and after the first, fifth and 10th treatment sessions. Fi…
Evidence for a white matter lesion size threshold to support the diagnosis of relapsing remitting multiple sclerosis
2018
Abstract Background The number of white matter lesions (WML) in brain MRI is the most established paraclinical tool to support the diagnosis of multiple sclerosis (MS) and to monitor its course. Diagnostic criteria have stipulated a minimum detectable diameter of 3 mm per WML, although this threshold is not evidence-based. We aimed to provide a rationale for a WML size threshold for three-dimensional MRI sequences at 3 T by comparing patients with relapsing-remitting MS (RRMS) to control subjects (CS). Methods We analyzed MR images from two cohorts, obtained at scanners from two different vendors, each comprising patients with RRMS and CS. Both cohorts were examined with FLAIR and T1w seque…