Search results for " Disability"

Autistic Adult Health and Professional Perceptions of It: Evidence From the ASDEU Project

2021

The Autism Spectrum Disorders in the European Union (ASDEU) survey investigated the knowledge and health service experiences of users and providers to generate new hypotheses and scientific investigations that would contribute to improvement in health care for autistic adults. An online survey designed for autistic adults, carers of autistic adults, and professionals in adult services was translated into 11 languages and distributed electronically by organizations and in-country adult service facilities in 2017; 522 autistic adults, 442 carers, and 113 professionals provided answers to the health questions. Professionals, the majority in non-medical services, appeared to be poorly informed …

Host-directed therapies for COVID-19

2021

Purpose of review Severe acute respiratory syndrome coronavirus-2-induced hyperinflammation is a major cause of death or end-organ dysfunction in COVID-19 patients. We review adjunct host-directed therapies (HDTs) for COVID-19 management. Recent findings The use of umbilical cord-derived mesenchymal stem cells as HDT for COVID-19 has been shown to be safe in phase 1 and 2 trials. Trials of anti-interleukin-6 receptor antibodies show promising mortality benefit in hospitalized COVID-19 patients. Repurposed drugs and monoclonal antibodies targeting specific cytokines acting on different aspects of the pro- and anti-inflammatory cascades are under evaluation. Summary A range of HDTs shows prom…

X-LINKED INTELLECTUAL DISABILITY

2013

The intellectual disability is found in approximately 2-3% of the population in a mild-to-moderate form and 0.5-1% in a moderate-to-severe form. The mutations on the chromosome X are responsible for both syndromic and non-syndromic intellectual disability. In the syndromic forms behavioral disorders, autism and/or seizures are frequent.

A rare unbalanced translocation 1;18 in a child with epilepsy, mild dysmorphology and mental retardation

2012

Selection and evaluation of Internet information by adults with intellectual disabilities

2018

Internet offers people with intellectual disabilities (ID) unique opportunities to access information and to participate in society. But concerns have been raised about the potential risks they face when accessing the Internet (e.g. giving credit to false information, being exposed to manipulative content). As part of the current debate between positive risk-taking and overprotection, our study empirically tested the extent to which 43 adults with ID identified and selected topically relevant as well as trustworthy web pages while searching the Internet for several topics (e.g. Can social networks use your pictures for advertisement?). Participants also justified their search decisions. Res…

New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review

2020

Potocki-Shaffer syndrome (PSS) is a rare non-recurrent contiguous gene deletion syndrome involving chromosome 11p11.2. Current literature implies a minimal region with haploinsufficiency of three genes, ALX4 (parietal foramina), EXT2 (multiple exostoses), and PHF21A (craniofacial anomalies, and intellectual disability). The rest of the PSS phenotype is still not associated with a specific gene. We report a systematic review of the literature and included two novel cases. Because deletions are highly variable in size, we defined three groups of patients considering the PSS-genes involved. We found 23 full PSS cases (ALX4, EXT2, and PHF21A), 14 cases with EXT2-ALX4, and three with PHF21A only…

De novo GRIN2A variants associated with epilepsy and autism and literature review

2021

N-methyl-D-aspartate receptors (NMDAR) are di- or tri-heterotetrameric ligand-gated ion channels composed of two obligate glycine-binding GluN1 subunits and two glutamate-binding GluN2 or GluN3 subunits, encoded by GRIN1, GRIN2A–D, and GRIN3A–B receptor genes respectively. Each NMDA receptor subtype has different temporal and spatial expression patterns in the brain and varies in the cell types and subcellular localization resulting in different functions. They play a crucial role in mediating the excitatory neurotransmission, but are also involved in neuronal development and synaptic plasticity, essential for learning, memory, and high cognitive functions. Among genes coding NMDAR subunits…

Dyscalculia – one of the Types of Learning Disabilities

2015

The article is devoted to a theoretical justification of dyscalculia showing a link between characteristics of brain functions and expressions of learning disorders. Although dyscalculia and dyslexia are linked problems, the cognitive profile is different. Significant understanding of dyscalculia deals with origin and manifestations of it that affect learning in school and future quality of life. Development of neuroscience and brain studies performing magnetic resonance imaging (MRI), allow accurate descriptions of problem and in addition to search for ways to reduce the negative effects of dyscalculia.

Written composition performance of students with attention-deficit/hyperactivity disorder

2011

ABSTRACTAttention-deficit/hyperactivity disorder (ADHD) is frequently associated with learning disabilities. The present study examined the written composition of children with ADHD, which depends to a large degree on continuous self-regulation and attentional control skills for organizing information and maintaining the level of effort. Fifty children with ADHD and 50 normally developing children, matched on age and IQ, were assessed using a composition writing task. The results contribute to prior research findings by showing that the children with ADHD performed significantly worse than the comparison groups on the majority of the planning, translation, and revision process measures usua…

Hearing among 75-year-old people in three Nordic localities: A comparative study

2005

The aim of this study was to compare auditory functions and to analyse the prevalence of hearing impairment and the relationship of self-reported hearing disability with audiometric test results among 75-year-old people in three Nordic localities. The representative samples came from Glostrup, Denmark (n = 571), Goteborg, Sweden (n =450), and Jyvaskyla, Finland (n =388). The median pure-tone thresholds were rather similar in all three populations. The prevalence of moderate hearing impairment varied between 26% and 34% in men, and between 17% and 23% in women. The corresponding figures in the prevalence of self-reported hearing difficulties were 41%-57%, and 28%-37%. The self-reported diffi…