Search results for "Down Syndrome"
showing 10 items of 91 documents
Investigating parental beliefs concerning facilitators and barriers to the physical activity in down syndrome and typical development
2017
Family is a crucial factor to determine the amount, the duration, and the complexity of children’s sport activities. This study aims at comparing the beliefs concerning the involvement in sport activities among parents of children with Down syndrome (DS) and parents of typically developing children (TDC). A phenomenological theoretical framework was adopted to realize semistructured interviews with the parents. The participants were 35 parents: 19 with children and adolescents with DS and 16 with TDC. The main facilitation/barrier themes identified by the parents of children with DS were the family and the expert at Adapted Physical Activity (APA) instructors. Conversely, the parents of TD…
The cholinergic system in Down's syndrome
2006
The cholinergic system is one of the most important modulatory neurotransmitter systems in the brain. Alterations of the transmission communicators are accompanied by reduction of the cortical activity, which is associated with a learning and memory deficit. Down's syndrome is a pathological condition characterized by a high number of abnormalities that involve the brain.The cholinergic system is involved in alterations of the neurological system such as severe learning difficulties.To explain these alterations, important results are obtained from studies about murine trisomy 16 (animal model of Down's syndrome).The results obtained provide useful elements in the improvement of knowledge ab…
Gross motor proficiency and intellectual functioning
2018
This cross-sectional study examines differences in gross motor proficiency as a function of different intellectual functioning profiles. Two motor areas have been investigated as being equally essential to gross motor functions in every-day life: locomotion and object control. It aims to compare gross motor skills endorsed by children with Down syndrome (DS), children with borderline intellectual functioning (BIF), and typically developing children (TDC). Group 1 was composed of 18 children with DS (chronological age=8.22), group 2 was composed of 18 children with BIF (chronological age=9.32), and group 3 was composed of 18 children with typical development (TD) (chronological age=9.28). Gr…
Children with Down syndrome in Finland and Italy: comparing adaptive behavior and services
2016
Objectives: The aim of this study was to compare a sample of Italian (n = 29) and Finnish children (n = 32) with Down syndrome for possible differences emerging from diverse educational surroundings. Besides the level of adaptive and challenging behaviors, some other issues were compared, including teacher satisfaction. Methods: We used the children’s teachers as informants. They were interviewed using standardized scales. Results: No differences in adaptive behavior or challenging behavior were observed between the samples. All children from the Italian sample were fully included in mainstream classes, while in the Finnish sample, 92% of all the school years were spent in self-contained sp…
Impacto de la crisis en las entidades de acción social. Asindown, un ejemplo de superación
2013
La situación económica actual obliga a organismos públicos y empresas a adoptar medidas extraordinarias con el objetivo de mantener los servicios que prestan. En este contexto, las entidades (Fundaciones y Asociaciones) que atienden a personas con discapacidad y otros colectivos en riesgo de exclusión social, y que dependen en gran medida de las subvenciones públicas y privadas, sufren graves problemas de financiación que dificultan el normal desarrollo de sus actividades, y en consecuencia, son perjudicados aquellos usuarios y familias con las que trabajan. Asindown es parte de esta realidad y trabaja desde todos los ámbitos para mantener los servicios que presta con los mayores estándares…
Co-created training program to promote active ageing in people with Down syndrome
2020
Abstract Background Population ageing is a current challenge for the European society. Specifically, People with Down Syndrome (PDS) are living longer than before, reaching some of them around 60 years old. However, it is known that they show premature ageing that in some cases may be misled with Alzheimer first signs. Hence, it is crucial to promote an Active Ageing (AA) and healthy living in this specific population by keeping their cognitive, physical and emotional functions, and also promoting social activities such as community participation. In such way, their Quality of Life (QoL) will be increased. Objectives The main objective of this study was to co-design a Training Program (TP) …
Epigenetic dysregulation in the developing Down syndrome cortex
2016
Using Illumina 450K arrays, 1.85% of all analyzed CpG sites were significantly hypermethylated and 0.31% hypomethylated in fetal Down syndrome (DS) cortex throughout the genome. The methylation changes on chromosome 21 appeared to be balanced between hypo- and hyper-methylation, whereas, consistent with prior reports, all other chromosomes showed 3–11 times more hyper- than hypo-methylated sites. Reduced NRSF/REST expression due to upregulation of DYRK1A (on chromosome 21q22.13) and methylation of REST binding sites during early developmental stages may contribute to this genome-wide excess of hypermethylated sites. Upregulation of DNMT3L (on chromosome 21q22.4) could lead to de novo methyl…
Inhibition of Fcγ Receptors in the Plasma of Subjects with Down's Syndrome
1993
Abstract Subjects with Down's syndrome have several immunological abnormalities. We examined the sera of 29 subjects with Down's syndrome for the presence of Fcγ receptor blocking and for the presence of anti-ssDNA antibodies by EA rosette inhibition. Fifty-five percent of Down subjects had levels of inhibition above the upper limit of normality in comparison to 7% of normal controls. The finding that after polyethylene glycol precipitation of selected sera giving high levels of EA rosette inhibition there was a reduction or a disappearance of the EA rosette inhibition could indicate that the blocking factors detected behaved as immune complexes. Since almost all subjects with anti-ssDNA an…
First-trimester screening for trisomy-21 using a simplified method to assess the presence or absence of the fetal nasal bone.
2005
Objective To determine the benefit of including nasal bone assessment in addition to standard first-trimester markers (nuchal translucency, free beta human chorionic gonadotropin and pregnancy-associated plasma protein A) as a screening test for Down syndrome, using a strict criterion for classification of nasal bone absence. Study design Nasal bone assessment was conducted in 2411 patients with crown-rump length between 45 and 84 mm, including 15 patients with Down syndrome. A patient was considered to have an absent nasal bone only if there was no evidence of present nasal bone. Unlike other studies, nasal bone was classified as present when there was evidence of a thin echogenic line und…
Apolipoprotein E Genotypic Frequencies Among Down Syndrome Patients Imply Early Unsuccessful Aging for ApoE4 Carriers
2007
Down syndrome (DS) might be considered a model for unsuccessful and early aging, possibly accelerated for those who carry the APOE4 allele associated with common age-related diseases, e.g., Alzheimer's disease and a poor prognosis after acute myocardial infarction, causing lower ApoE4 frequencies among the very old in general populations. We compared ApoE genotypic frequencies found for healthy adults (n = 211, age 90) to those found for DS patients (n = 106, mean age 9 years), all living in western Sicily. We found that the frequency of the ApoE23 genotype increased with age among the healthy adults (8.5%, 6.4%, 19.7%; p = 0.024) while ApoE34 frequency decreased (16.1%, 12.6%, 4.1%; p = 0.…