Search results for "Autism spectrum disorder"
showing 10 items of 237 documents
Losing DNA methylation at repetitive elements and breaking bad
2021
Abstract Background DNA methylation is an epigenetic chromatin mark that allows heterochromatin formation and gene silencing. It has a fundamental role in preserving genome stability (including chromosome stability) by controlling both gene expression and chromatin structure. Therefore, the onset of an incorrect pattern of DNA methylation is potentially dangerous for the cells. This is particularly important with respect to repetitive elements, which constitute the third of the human genome. Main body Repetitive sequences are involved in several cell processes, however, due to their intrinsic nature, they can be a source of genome instability. Thus, most repetitive elements are usually meth…
Effectiveness of Virtual Reality for Children and Adolescents with Autism Spectrum Disorder: An Evidence-Based Systematic Review
2018
Autism Spectrum Disorder (ASD) is a neurodevelopmental disease that is specially characterized by impairments in social communication and social skills. ASD has a high prevalence in children, affecting 1 in 160 subjects. Virtual reality (VR) has emerged as an effective tool for intervention in the health field. Different recent papers have reviewed the VR-based treatments in ASD, but they have an important limitation because they only use clinical databases and do not include important technical indexes such as the Web of Science index or the Scimago Journal & Country Rank. To our knowledge, this is the first contribution that has carried out an evidence-based systematic review includin…
The Quality of Life among Siblings of Autistic Individuals: A Scoping Review
2023
Autism spectrum disorders are a heterogeneous group of neurodevelopmental disorders presenting at a tender age, defined by qualitative deficits in social interactions and communication, thus having a substantial influence on the subject’s family unit. Quality of life (QoL) refers to a person’s perspective of their life situation, cultural and value background, objectives, expectations, and standards. When focusing on childhood and adolescence, age-related changes should be considered. For this scoping review, the authors used three peer-review literature database sources (PubMed/MEDLINE, Scopus, and ERIC) to delve deeper into components of the QoL of non-autistic siblings of autistic indivi…
Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity
2019
We recently described a new neurodevelopmental syndrome (TAF1/MRXS33 intellectual disability syndrome) (MIM# 300966) caused by pathogenic variants involving the X-linked gene TAF1, which participates in RNA polymerase II transcription. The initial study reported eleven families, and the syndrome was defined as presenting early in life with hypotonia, facial dysmorphia, and developmental delay that evolved into intellectual disability (ID) and/or autism spectrum disorder (ASD). We have now identified an additional 27 families through a genotype-first approach. Familial segregation analysis, clinical phenotyping, and bioinformatics were capitalized on to assess potential variant pathogenicity…
Functional annotation of genes overlapping copy number variants in autistic patients: focus on axon pathfinding.
2010
We have used Gene Ontology (GO) and pathway analyses to uncover the common functions associated to the genes overlapping Copy Number Variants (CNVs) in autistic patients. Our source of data were four published studies [1- 4]. We first applied a two-step enrichment strategy for autism-specific genes. We fished out from the four mentioned studies a list of 2928 genes overall overlapping 328 CNVs in patients and we first selected a sub-group of 2044 genes after excluding those ones that are also involved in CNVs reported in the Database of Genomic Variants (enrichment step 1). We then selected from the step 1-enriched list a sub-group of 514 genes each of which was found to be deleted or dupli…
Prevalence and comorbidity of autism spectrum disorder in Spain: study protocol for a systematic review and meta-analysis of observational studies
2019
[Background] Autism spectrum disorder (ASD) is a complex developmental disorder characterised by impaired social interaction and communication, and restrictive and repetitive behaviour. Previous systematic reviews have traditionally assessed the prevalence of ASD on global or regional context, with very few meta-analyses at the country level. The objective of this study will be to systematically evaluate published and unpublished observational studies that present prevalence and comorbidity of ASD among children, adolescent and adult population in Spain.
Estudiantes Universitarios con Trastornos del Espectro del Autismo: Revisión de sus necesidades y notas para su atención
2021
[ENIn the last 10 years we have seen an increase in the number of publications related to the inclusion in university classrooms of students with Autism Spectrum Disorders, Asperger's Syndrome or high functioning autism. This article summarizes the literature on the presence of students with Autism Spectrum Disorders at the University and reflects on the need to develop specific programs for their care within the framework of support services for students with disabilities or other similar service structures. Among the specific measures, we have found experiences on awareness programs for teachers and students with the aim of generating a culture about "autism", programs to treat anxiety, m…
A preliminary investigation assessing the basic digital capabilities of minimally verbal children on the autism spectrum with intellectual disability
2020
Purpose Children with Autism Spectrum Disorder (ASD) can demonstrate a preference for using digital technologies which can represent a relative strength within the autism community. Such a strength would have implications for digitally mediated interventions and support for autism. However, research to date has not developed a methodology for assessing the capabilities of minimally verbal children on the autism spectrum with intellectual disability (ID) to use digital technology. Design/methodology/approach Six minimally verbal children with ASD and ID undertook an accessible assessment that identified what capabilities for interacting with a digital tablet device they could and could not …
Socio-Ecological Correlates of Physical Activity in Children with Autism Spectrum Disorder: A Cross-Sectional Study in Spain
2021
This study aims to analyse the Physical Activity(PA) levels of a group of children with ASD and explore certain socio-ecological variables that may be correlated with these levels. The participants of this cross-sectional study were 20 boys and 5girls with ASD, aged between 4 and 14 years. A socio-demographic questionnaire was designed expressly to obtain socio-demographic data, and PA levels were measured with a triaxial accelerometer (ActiGraph, wGT3X-BT).After performing a descriptive analysis, we analysed the relationship between the variables through Spearman correlations and performed the Kruskal Wallis test to compare the results of moderate, vigorous and very vigorous PA according t…
Efectos de un programa de intervención cognitivo-conductual sobre la salud de cuidadores de personas con trastorno del espectro autista
2015
Caregivers of people with autism spectrum disorder (ASD) are chronically exposed to high levels of stress. In turn, such stress is associated with high rates of negative health outcomes. However, few studies have analyzed the effects of psychotherapeutic interventions in improving health in this population. The main aim of the present study was to evaluate the effectiveness of a cognitive-behavioral intervention program, based on the model proposed by Ruiz-Robledillo and Moya-Albiol (2014a). For this, we used a sample of 17 informal caregivers of people diagnosed with ASD. The study was based on a pre-post design. Caregivers had lower levels of burden immediately after the intervention than…