Search results for "Autism."
showing 10 items of 454 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…
Research Mapping of Trauma Experiences in Autism Spectrum Disorders: A Bibliometric Analysis
2023
The number of research related to traumatic experiences in people with autism spectrum disorder (ASD) has grown exponentially, yet there are no bibliometric studies in this field. This article aimed to analyze the literature related to trauma and ASD published in Web of Science (WoS). Papers on trauma and ASD were retrieved from the WoS. Analysis and visualization of selected documents were performed using MS Excel (v16.0), VOS viewer (version 1.6.15), and R package (Biblioshiny, version 2.0). A total of 147 articles were included in this study. The results showed that production has been increasing over the last few years. Among the countries identified, the USA published the largest numbe…
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…
Los moriscos de Castellón (1525-1609). Del bautismo forzoso a la expulsión
2009
Evolución del grupo de los antiguos mudéjares de Castellón convertidos en 1525 en cristianos nuevos o moriscos hasta su expulsión en 1609. (A)
Research on Emotion Recognition and Dementias: Foundations and Prospects
2021
Background: The study of emotion recognition could be crucial for detecting alterations in certain cognitive areas or as an early sign of neurological disorders. Objective: The main objective of the study is to characterize research development on emotion recognition, identifying the intellectual structure that supports this area of knowledge, and the main lines of research attracting investigators’ interest. Methods: We identified publications on emotion recognition and dementia included in the Web of Science Core Collection, analyzing the scientific output and main disciplines involved in generating knowledge in the area. A co-citation analysis and an analysis of the bibliographic couplin…
Risperidona lietošana bērniem ar autismu vai šizofrēniju un ar to saistīto risku izvērtējums
2015
Risperidons ir efektīvs un plaši pielietots neiroleptiskais līdzeklis, kura lietošana bērniem ar autismu vai šizofrēniju bieži saistīta ar hiperprolaktinēmijas attīstīšanos. Pētījumā apkopoti dati par risperidona nozīmēšanas biežumu Bērnu Psihiatrijas Klīnikā, hiperpolaktinēmijas attīstības risku un to atkarību no bērna dzimuma. Darbā secināts, ka autisma un šizofrēnijas pacientiem pastāv ļoti augsts hiperprolaktinēmijas risks -61% autisma un 94% šizofrēnijas pacientiem noteikta risperidona izraisīta hiperprolaktinēmija. Pētījumā izvērtēta bērnu vecāku informētība par risperidona lietošanas riskiem. Pie hipeprolaktinēmijas autisma gadījumā pacientiem medicīniskās palīdzības pamatmetode ir r…
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…
Suggestive evidence for association of D2S2188 marker (2q31.1) with autism in 143 Sicilian (Italian) TRIO families
2005
We have screened 143 Sicilian (Italian) families with one autistic child to verify, by a linkage disequilibrium approach, the involvement of the 2q31.1 region in the cause of the disease in these families. Our study design includes the use of intrafamilial association to prevent a population stratification bias and ethnic homogeneity of the sample. The results of our analysis provided suggestive evidence of the occurrence of transmission disequilibrium between autism and the D2S2188 polymorphism in Sicilian TRIO families, a finding which provides further and independent support to the hypothesis of the existence of a susceptibility gene (or genes) for autism on chromosome 2q.
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…