Search results for "AUTISM"
showing 10 items of 457 documents
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…
Genetic Heterogeneity and Phenotype Variation of Schizophrenia
1995
It is well proven that the manifestation of schizophrenia is under genetic control (Kendler and Diehl 1993). It is however less clear: 1. How relevant environmental factors are, and how they operate and interact with genetic factors. 2. If the genetic susceptibility is identical across the total population of schizophrenics (or at least across all subjects with familial schizophrenia), or if the specific genetic components vary across families. 3. What is transmitted in families of schizophrenics and how co-familial traits are related to genetic and genetic risk factors; are only disorders and symptoms that belong to the schizophrenic sepctrum transmitted or are neurophysiological, neuropsy…
Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders
2018
AbstractPurposeTo assess the contribution of rare variants in the genetic background towards variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive mutations.MethodsWe analyzed quantitative clinical information, exome-sequencing, and microarray data from 757 probands and 233 parents and siblings who carry disease-associated mutations.ResultsThe number of rare secondary mutations in functionally intolerant genes (second-hits) correlated with the expressivity of neurodevelopmental phenotypes in probands with 16p12.1 deletion (n=23, p=0.004) and in probands with autism carrying gene-disruptive mutations (n=184, p=0.03) compared to …
Chromosome 8p as a potential hub for developmental neuropsychiatric disorders: implications for schizophrenia, autism and cancer.
2009
Defects in genetic and developmental processes are thought to contribute susceptibility to autism and schizophrenia. Presumably, owing to etiological complexity identifying susceptibility genes and abnormalities in the development has been difficult. However, the importance of genes within chromosomal 8p region for neuropsychiatric disorders and cancer is well established. There are 484 annotated genes located on 8p; many are most likely oncogenes and tumor-suppressor genes. Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, S…
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…
Today Is My Day: Analysis of the Awareness Campaigns’ Impact on Functional Diversity in the Press, on Google, and on Twitter
2021
(1) Every day, people with functional diversity face different kinds of difficulties that pose a barrier to their social inclusion. These difficulties often go unnoticed by most citizens. Social networks are a powerful tool to sensitize the population. With this objective, different organizations such as associations, federations, foundations, and other institutions have promoted campaigns through the celebration of world days for different types of functional diversity. This research aims to monitor and analyze the impact of these social campaigns in Spain, including Asperger’s syndrome, rare diseases, Down syndrome, autism, hearing and visual impairment, cerebral palsy, dyslexia, ADHD, sp…
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…