Search results for "Spectrum disorder"
showing 10 items of 272 documents
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 The objective of this study will be to systematically evaluate published and unpublished observational studies that present prevalence and comorbidity of ASD among children, adolescent and adult population in Spain.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…
Translating the Role of mTOR- and RAS-Associated Signalopathies in Autism Spectrum Disorder: Models, Mechanisms and Treatment
2021
Mutations affecting mTOR or RAS signaling underlie defined syndromes (the so-called mTORopathies and RASopathies) with high risk for Autism Spectrum Disorder (ASD). These syndromes show a broad variety of somatic phenotypes including cancers, skin abnormalities, heart disease and facial dysmorphisms. Less well studied are the neuropsychiatric symptoms such as ASD. Here, we assess the relevance of these signalopathies in ASD reviewing genetic, human cell model, rodent studies and clinical trials. We conclude that signalopathies have an increased liability for ASD and that, in particular, ASD individuals with dysmorphic features and intellectual disability (ID) have a higher chance for disrup…
Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence
2016
The chromosome bands 15q24.1-15q24.3 contain a complex region with numerous segmental duplications that predispose to regional microduplications and microdeletions, both of which have been linked to intellectual disability, speech delay and autistic features. The region may also harbour common inversion polymorphisms whose functional and phenotypic manifestations are unknown. Using single nucleotide polymorphism (SNP) data, we detected four large contiguous haplotype-genotypes at 15q24 with Mendelian inheritance in 2,562 trios, African origin, high population stratification and reduced recombination rates. Although the haplotype-genotypes have been most likely generated by decreased or abse…
Influence of a Specific Aquatic Program on Social and Gross Motor Skills in Adolescents with Autism Spectrum Disorders: Three Case Reports
2019
Swimming pool activities revealed to be efficacious to train psychomotor skills and increase adaptive behaviors in children with Autism Spectrum Disorders (ASD). Therefore, the purpose of this study was to investigate the efficacy of a specific multi-systemic aquatic therapy (CI-MAT) on gross motor and social skills in three adolescents with Autism Spectrum Disorders (ASD). Methods: three adolescents with ASD of which two boys (M1 with a chronological age of 10.3 years and a mental age of 4.7 years; M2 with a chronological age of 14.6 and a mental age inferior to 4 years) and one girl (chronological age of 14.0 and a mental age inferior to 4 years). The study was divided into three phases: …