Search results for "disability"
showing 10 items of 989 documents
Construct and predictive validity of a self-reported measure of preclinical mobility limitation.
2007
Abstract Manty M, Heinonen A, Leinonen R, Tormakangas T, Sakari-Rantala R, Hirvensalo M, von Bonsdorff MB, Rantanen T. Construct and predictive validity of a self-reported measure of preclinical mobility limitation. Objectives To validate self-reported preclinical mobility limitation concept and self-report assessment method against muscle power and walking speed, and to study the predictive validity of preclinical mobility limitation with respect to future risk of manifest mobility limitation. Design Observational prospective cohort study and cross-sectional analysis. Setting Research laboratory and community. Participants A total of 632 community-living (age range, 75−81y) women and men t…
‘I Got To Answer the Way I Wanted To’: Intellectual Disabilities and Participation in Technology Design Activities
2021
User involvement in technology design processes can have positive implications for the designed service, but less is known about how such participation affects people with intellectual disabilities. We explored how 13 individuals with intellectual disabilities experienced participation in the design of a transport support application. The study is based on qualitative interviews, photovoice interviews, participant observations, and Smileyometer ratings. A thematic analysis generated the following themes: a sense of pride and ownership, an experience of socialization, and a sense of empowerment. The findings suggest that participation in design activities is a primarily positive experience t…
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant.
2021
Almost half of all individuals affected by intellectual disability (ID) remain undiagnosed. In the Solve-RD project, exome sequencing (ES) datasets from unresolved individuals with (syndromic) ID (n = 1,472 probands) are systematically reanalyzed, starting from raw sequencing files, followed by genome-wide variant calling and new data interpretation. This strategy led to the identification of a disease-causing de novo missense variant in TUBB3 in a girl with severe developmental delay, secondary microcephaly, brain imaging abnormalities, high hypermetropia, strabismus and short stature. Interestingly, the TUBB3 variant could only be identified through reanalysis of ES data using a genome-wi…
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
2020
PurposeMarfanoid habitus (MH) combined with intellectual disability (ID) (MHID) is a clinically and genetically heterogeneous presentation. The combination of array CGH and targeted sequencing of genes responsible for Marfan or Lujan–Fryns syndrome explain no more than 20% of subjects.MethodsTo further decipher the genetic basis of MHID, we performed exome sequencing on a combination of trio-based (33 subjects) or single probands (31 subjects), of which 61 were sporadic.ResultsWe identified eight genes with de novo variants (DNVs) in at least two unrelated individuals (ARID1B, ATP1A1, DLG4, EHMT1, NFIX, NSD1, NUP205 and ZEB2). Using simulation models, we showed that five genes (DLG4, NFIX, …
Quality assurance of decision-making in conversations between professionals and non-professionals: identifying the presence of deliberative principles
2012
The ideal of dialogue is at stake in professional conversations. The aim of this study is to develop an instrument that makes it possible to compare principles of deliberation with what actually takes place in professional conversations. The developed instrument is tested on one patient's conversation with his doctor about lifestyle changes, and meetings where pupils with learning disabilities and their parents discuss further schooling with school representatives. Although in need of refinement, the conclusion is that the instrument provides meaningful insight into how much each participant 'contributes' to the decision-making process and 'behaves' during the conversation.
Training young adults with intellectual disability to read critically on the internet.
2019
Background Young people with intellectual disability (ID) are becoming frequent Internet users, but they present difficulties selecting reliable Internet sources. Methods The present authors tested an instructional programme aimed at increasing skills to evaluate information from the Internet of 33 young adult students with intellectual disability enrolled in special needs education (19.4 years). The programme was composed of different web pages that provided conflicting views on a controversial topic. Students participated in small group discussions supported with Wh-question graphic organizers and contrasting cases during seven sessions. Results Differences between pre- and post-tests ind…
Training adults and children with an autism spectrum disorder to be compliant with a clinical dental assessment using a TEACCH-based approach
2014
The specific neuropsychological and sensory profile found in persons with autism spectrum disorders complicate dental procedures and as a result of this, most are treated under general anesthesia or unnecessary sedation. The main goal of the present study was to evaluate the effectiveness of a short treatment and education of autistic and related communication-handicapped children-based intervention program (five sessions) to facilitate a 10-component oral assessment in children (n = 38, aged 4¿9 years) and adults (n = 34, aged 19¿41) with autism spectrum disorder (with or without associated intellectual disability). The assessment ranges from entering into the examination room to the evalu…
Oral health related quality-of-life outcomes of partially edentulous patients treated with implant-supported single crowns or fixed partial dentures
2016
Background Oral health-related quality of life (OHRQoL) is afflicted by different variables. Limited information is available regarding the impact of different phases of implant therapy on OHRQoL of edentulous patients. This study was carried out to assess the OHRQoL of patients treated with implant-supported single crowns or fixed partial dentures. Material and Methods A total of 79 healthy partially edentulous subjects needing implant therapy were incorporated in this study. Before placement of the implants, the subjects were instructed to fill the original version of OHIP questionnaire. Subsequently patients received titanium oral implants of the ITI® Dental Implant System. After 1st, 2n…
P-Value, Confidence Intervals, and Statistical Inference: A New Dataset of Misinterpretation
2017
Statistical inference is essential for science since the twentieth century (Salsburg, 2001). Since it's introduction into science, the null hypothesis significance testing (NHST), in which the P-value serves as the index of “statistically significant,” is the most widely used statistical method in psychology (Sterling et al., 1995; Cumming et al., 2007), as well as other fields (Wasserstein and Lazar, 2016). However, surveys consistently showed that researchers in psychology may not able to interpret P-value and related statistical procedures correctly (Oakes, 1986; Haller and Krauss, 2002; Hoekstra et al., 2014; Badenes-Ribera et al., 2016). Even worse, these misinterpretations of P-value …
A realist account of the ontology of impairment
2008
This paper provides a philosophical analysis of the ontology of impairment, in part social and in part not. The analysis is based on the division between two categories of facts concerning the world we live in: "brute" and institutional facts. Brute facts are those that require no human institution for their existence. To state a brute fact requires naturally the institution of language, but the fact stated is not the same as the statement of it. For example, regardless of any human institution or opinion, the presence of an extra chromosome 21 is a brute fact, and despite of people's constructions or deconstructions, this fact remains. As for the lives of people with extra chromosome 21, t…