Search results for "Intellectual disability"
showing 10 items of 303 documents
Designing Transport Supporting Services Together with Users with Intellectual Disabilities
2020
Transportation is an important yet challenging aspect in terms of mobility for persons with intellectual disabilities (ID). Despite positive implications of designing services with users, persons with ID are rarely given the opportunity to be involved in such design processes. In this action design research (ADR) study we involve persons with ID in the design through observations, photovoice interviews and in a staged, yet naturalistic user enactments on a bus. Our research contributes with design insights on transport supporting services and insights on user involvement of persons with ID in ADR. The three ADR cycles showed that people with ID is a heterogenous group of users and as such e…
Documenting pedagogical support measures in Finnish IEPs for students with intellectual disability
2018
The individual education plan (IEP) is an essential part of special education and is used widely in Western countries for documenting both the learning goals and support measures for children with ...
Motivating Physical Activity for Individuals with Intellectual Disability through Indoor Bike Cycling and Exergaming.
2022
People with intellectual disabilities have more sedentary lifestyles than the general population. Regular physical activity is of both medical and social importance, reducing the risk of cardiovascular disease and promoting functioning in everyday life. Exergames have been envisioned for promoting physical activity; however, most of them are not user-friendly for individuals with intellectual disabilities. In this paper, we report the design, development, and user acceptance of a mobile health solution connected to sensors to motivate physical activity. The system is mounted on an indoor stationary bicycle and an ergometer bike tailored for people with intellectual disabilities. The develop…
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…
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…
Accesible co-creation tools for people with intellectual disabilities: working for and with end-users
2019
In a world defined by rapid change, the search for solutions to societal challenges has become more complex calling for new paradigms of innovation focused on collaborations with the community and users. Co-creation approaches in the design and production of a service or product can bring low-cost innovation and unique and personalized customer experiences leading to user acceptance of a product or service. Under a co-creation perspective, the participatory approach developed in the MINDInclusion project aims to improve the inclusion of people with intellectual disabilities into public places and society by using a co-created online tool based on people with disabilities’ personal experienc…
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
2021
AbstractPurposeHeterozygous variants in BCL11A underlie an intellectual developmental disorder with persistence of fetal hemoglobin (BCL11A-IDD, a.k.a. Dias-Logan syndrome). We sought to delineate the genotypic and phenotypic spectrum of BCL11A-IDD.MethodsWe performed an in-depth analysis of 42 patients with BCL11A-IDD ascertained through a collaborative network of clinical and research colleagues. We also reviewed 33 additional affected individuals previously reported in the literature or available through public repositories with clinical information.ResultsMolecular and clinical data analysis of 75 patients with BCL11A-IDD identified 60 unique variants (30 frameshift, 7 missense, 6 splic…