Search results for " Disability"
showing 10 items of 673 documents
Philosophy and science: the axes of evil in disability studies?
2007
In this review, I concentrate on analysing the response Tom Shakespeare’s Disability rights and wrongs has awoken in the disability studies community. I argue that the complicated relationship between politics and science is the underlying cause for many controversies in disability studies. The research field should regain its autonomy and scrutinise properly its ontological premises. The field of disability studies in the UK is in turmoil. During the past 10 years or so, there have been several debates that have revolved around the social model of disability. The latest source of a heated debate is Tom Shakespeare’s Disability rights and wrongs . Many of us working outside the UK have foll…
Knowledge and Beliefs About Developmental Dyslexia: A Comparison Between Pre-Service and In-Service Peruvian Teachers
2017
The purpose of this study was to investigate the knowledge, misconceptions, and knowledge gaps of Peruvian pre-service teachers (PSTs) and in-service teachers (ISTs). To do so, 112 PSTs and 113 ISTs completed the Knowledge and Beliefs About Developmental Dyslexia Scale (KBDDS). Results show that ISTs scored significantly higher than PSTs. Moreover, misconceptions and lack of information were higher in PSTs. The most noteworthy misconceptions were that dyslexia is due to poor visual perception and that letter or word reversals are the most important criterion in the identification of dyslexia. Age, years of teaching experience, prior exposure to a child with dyslexia, and self-efficacy were …
Correlations between Reading Disabilities and Learning Disabilities
2015
The article is devoted to reveal correlations between reading disabilities and learning disabilities. These problems need to be explained and teachers need to have reasonable solutions. Number of school-children with learning disabilities is increasing and teacher is not able to find the best and most precise ways of diagnostics and treatment/intervention. Causes of learning disabilities are different: brain damage or distorted functioning of it; auditory or visual perception and operating problems; language acquisition or processing problems etc. Symptoms are mostly noticed in the main areas – reading, writing and mathematics. Reading disabilities are one of the most obvious and serious pr…
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation
2014
International audience; BACKGROUND:Homozygous mutations in WWOX were reported in eight individuals of two families with autosomal recessive spinocerebellar ataxia type 12 and in two siblings with infantile epileptic encephalopathy (IEE), including one who deceased prior to DNA sampling.METHODS:By combining array comparative genomic hybridisation, targeted Sanger sequencing and next generation sequencing, we identified five further patients from four families with IEE due to biallelic alterations of WWOX.RESULTS:We identified eight deleterious WWOX alleles consisting in four deletions, a four base-pair frameshifting deletion, one missense and two nonsense mutations. Genotype-phenotype correl…
Diagnostic and therapeutic aspects of hemiplegic migraine
2020
Hemiplegic migraine (HM) is a clinically and genetically heterogeneous condition with attacks of headache and motor weakness which may be associated with impaired consciousness, cerebellar ataxia and intellectual disability. Motor symptoms usually last <72 hours and are associated with visual or sensory manifestations, speech impairment or brainstem aura. HM can occur as a sporadic HM or familiar HM with an autosomal dominant mode of inheritance. Mutations in CACNA1A, ATP1A2 and SCN1A encoding proteins involved in ion transport are implicated. The pathophysiology of HM is close to the process of typical migraine with aura, but appearing with a lower threshold and more severity. We review…
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome
2022
Wiedemann–Steiner syndrome (WDSTS) is a Mendelian syndromic intellectual disability (ID) condition associated with hypertrichosis cubiti, short stature, and characteristic facies caused by pathogenic variants in the KMT2A gene. Clinical features can be inconclusive in mild and unusual WDSTS presentations with variable ID (mild to severe), facies (typical or not) and other associated malformations (bone, cerebral, renal, cardiac and ophthalmological anomalies). Interpretation and classification of rare KMT2A variants can be challenging. A genome-wide DNA methylation episignature for KMT2A-related syndrome could allow functional classification of variants and provide insights into the pathoph…
The need for recovery scale
2013
Abstract Introduction Need for Recovery scale is one of the main scales used to assess work-induced fatigue and quality of workers’ recovery time. In fact, need for recovery is considered relevant as a precursor of prolonged fatigue or psychological distress, an indicator of work stress, and a mediating or moderating characteristic in the etiology of work-related health problems, sick leave and work disability. Objective The purpose of the present study is to translate the Need for Recovery scale into Italian, and to adapt it to Italian culture; until now there has been no comparable valid instrument made for the Italian language that measures the need for recovery of employees. The stabili…
MEMORIA DE TRABAJO EN NIÑOS DE EDUCACIÓN INFANTIL CON Y SIN BAJO RENDIMIENTO MATEMÁTICO
2014
Abstract:This study aims to explore working memory in preschool children with and without low mathematical performance. The sample consisted of 255 children aged 5-6 years, to whom were administered neuropsychological tests of working memory and TEDI-MATH to estimate the mathematical performance. The results highlight the capacity of verbal working memory to significantly differentiate groups of children with and without problems in 8 of the 9 analyzed mathematical domains. This factor together with visuospatial working memory differentiate the group of children at risk for mathematical learning disabilities.Keywords: working memory, preschool, math performance, mathematics learning disabil…
Age-dependent epileptic encephalopathy associated with an unusual co-occurrence of ZEB2 and SCN1A variants.
2020
Mowat-Wilson syndrome is a genetic disorder associated with a variable phenotype including peculiar facial features associated with intellectual disability, epilepsy, language impairment, and multiple congenital anomalies caused by heterozygous mutation of the ZEB2 gene. The ZEB2 protein is a complex transcription factor that encompasses multiple functional domains that interact with the regulatory regions of target genes including those involved in brain development. Recently, it has been documented that ZEB2 regulates the differentiation of interneuron progenitors migrating from the medial ganglionic eminence to cortical layers by repression of the Nkx2-1 homeobox transcription factor. It…
Kehitysvammaisten aikuisten kestävyyskunnon taso ja muutos ikääntyessä : kahden kävelytestin vertaaminen
2015
Eveliina Keinonen (2015). Kehitysvammaisten aikuisten kestävyyskunnon taso ja muutos ikääntyessä: Kahden kävelytestin vertaaminen. Liikuntakasvatuksen laitos, Jyväskylän yli-opisto, liikuntapedagogiikan pro gradu –tutkielma, 66 s., 3 liitettä. Tutkimuksen tavoitteena oli tarkastella keski-ikäisten kehitysvammaisten naisten ja miesten kestävyyskunnon tasoa vammattomaan väestöön sekä Suomessa yleisesti käytössä oleviin terveysliikunnan suosituksiin verrattuna. Tarkastelun kohteena oli myös kehitysvammaisten kestävyyskunnossa esiintyvät muutokset seitsemän vuoden aikana. Lisäksi tutkimus pyrki selvittämään onko samanaikaisesti suoritettujen UKK-instituutin 2 kilometrin kävelytestin ja Rockport…