Search results for "disabilities"
showing 10 items of 230 documents
Internationally adopted children: a new challenge for pediatricians.
2006
Children adopted from abroad by Italian families have increased during the last years. Since 2001 to 2004 they have been more than 10,000, mainly from Eastern Europe, and all indications suggest that they will continue to increase. Most of the internationally adopted children reside in orphanage before adoption where they may experience malnutrition, exposure to infectious diseases, environmental deprivation, neglect. Moreover, their pre-adoptive records are scarcely reliable and their immunization status is not always adequate. The most common long-term problems of internationally adopted children concern developmental and scholastic delay especially if they come from a long and severely d…
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…
Policy-practice gap in participation of students with disabilities in Ethiopia's formal vocational education programme
2017
In Ethiopia, individuals with disabilities have limited access to educational and vocational training opportunities due to environmental, attitudinal and institutional barriers. The overarching purpose of the study was to investigate the status of inclusiveness of relevant policy and legal instruments of the study countries and their practicality in vocational education programmes. The specific aims of the study were to: explore the extent to which the issue of special educational and training needs for persons with disabilities is addressed in the education and training policy of Ethiopia, specifically focusing on technical and vocational education and training (TVET); investigate prevaili…
Digital educational materials for intervention in students with learning difficulties in mathematics
2012
En este trabajo se revisan las principales características cognitivas y metacognitivas de los estudiantes con dificultades de aprendizaje en matemáticas, que son causa de bajo rendimiento en este área para un número muy importante de estudiantes. Junto a cada una de estas características se presenta una propuesta de material educativo en soporte digital adecuada para el entrenamiento de estos procesos, y con ello del rendimiento matemático de estos estudiantes.
Rapid serial naming: relations between different stimuli and neuropsychological factors.
2004
We report two studies on rapid serial naming (RSN). Study 1 addressed the relations among RSN tasks comprising different stimuli. Separate components for RSN of alphanumeric and non-alphanumeric stimuli, as well as for tasks in which the stimuli alternated between categories were identified. In Study 2, phonological skills, processing speed, motor dexterity, and verbal fluency were found to explain RSN performance. The studies indicate: (1) that RSN tasks vary in their properties according to the stimuli used and according to the way the tasks are arranged, and (2) that RSN tasks are multi-componented.
Part-time special education predicts students' reading self-concept development
2018
Abstract The academic self-concept changes from childhood to early adulthood in relation to experiences of capability in different school tasks and comparison with peers. Students in special education have a lower academic self-concept than their peers do, but it is unclear how part-time special education affects self-concept development. In Finnish schools, part-time special education is learning support that is usually provided for 1–2 h/week in small groups. The main aim of this study was exploring the effects of participation in part-time special education and gender on the level and change in three academic self-concept domains (General School, Mathematics and Reading) between the ages…
Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense var…
2019
Next-generation sequencing has revealed the major impact of de novo variants (DNVs) in developmental disorders (DD) such as intellectual disability, autism, and epilepsy. However, a substantial fraction of these predicted pathogenic DNVs remains challenging to distinguish from background DNVs, notably the missense variants acting via nonhaploinsufficient mechanisms on specific amino acid residues. We hypothesized that the detection of the same missense variation in at least two unrelated individuals presenting with a similar phenotype could be a powerful approach to reveal novel pathogenic variants. We looked for variations independently present in both our database of >1200 solo exomes and…
Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly
2021
International audience; 13q12.3 microdeletion syndrome is a rare cause of syndromic intellectual disability. Identification and genetic characterization of patients with 13q12.3 microdeletion syndrome continues to expand the phenotypic spectrum associated with it. Previous studies identified four genes within the approximately 300 Kb minimal critical region including two candidate protein coding genes: KATNAL1 and HMGB1. To date, no patients carrying a sequence-level variant or a single gene deletion in HMGB1 or KATNAL1 have been described. Here we report six patients with loss-of-function variants involving HMGB1 and who had phenotypic features similar to the previously described 13q12.3 m…
Microsomal triglyceride transfer protein gene mutations in Turkish children: A novel mutation and clinical follow up.
2016
Abetalipoproteinemia (ABL; OMIM 200100) is a rare autosomal recessive disease that affects the absorption of dietary fats and fat soluble vitamins. Here, we describe the clinical and genetic characteristics of three patients with ABL. Two patients (patients 1 and 2) who were carriers of the c.398-399delAA mutation (previously known mutation) had developmental delay and hepatic steatosis developed at the age of five in patient 1. Patient 3 was the carrier of a novel mutation (g.10886-10902delAAGgtaagtttgtgttg in intron 3 and c.506A>T exon 5) in microsomal triglyceride transfer protein (MTP) gene and had hepatic steatosis.
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome
2016
Using targeted next generation sequencing, we have identified a splicing mutation (c.526-9_526-5del) in the SLC9A6 gene in a 9-year-old boy with mild intellectual disability (ID), microcephaly, and social interaction disabilities. This intronic microdeletion leads to the skipping of exon 3 and to an in-frame deletion of 26 amino acids in the TM4 domain. It segregates with cognitive impairment or learning difficulties in other members of the family. Mutations in SLC9A6 have been reported in X-linked Christianson syndrome associating severe to profound intellectual deficiency and an Angelman-like phenotype with microcephaly, absent speech, ataxia with progressive cerebellar atrophy, ophthalmo…