Search results for " Autism"
showing 10 items of 65 documents
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…
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…
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…
Lost in the Social World: How Social Cognitive Deficits Affect Social Functioning of People with Asperger Syndrome
2012
Were we to visualise autism spectrum disorders as a continuum, Asperger syndrome (AS) would be situated at one of its extremes. What appears to determine each individual’s position in this continuum is his or her symptomatology. In the case of AS symptomatology presents itself more discretely. According to Barthelemy (2000), the abovementioned symptomatology can be grouped in three major areas: a) difficulties in development of social interaction; b) difficulties in verbal and nonverbal communication; and c) presence of fixated interests, routines or rituals and repetitive behaviours. Being a developmental disorder, symptoms vary according to age. While some features tend to disappear with …
Metabolomics Study of Urine in Autism Spectrum Disorders Using a Multiplatform Analytical Methodology
2015
International audience; Autism spectrum disorder (ASD) is a neurodevelopmental disorder with no clinical biomarker. The aims of this study were to characterize a metabolic signature of ASD and to evaluate multiplatform analytical methodologies in order to develop predictive tools for diagnosis and disease follow-up. Urine samples were analyzed using (1)H and (1)H-(13)C NMR-based approaches and LC-HRMS-based approaches (ESI+ and ESI- on HILIC and C18 chromatography columns). Data tables obtained from the six analytical modalities on a training set of 46 urine samples (22 autistic children and 24 controls) were processed by multivariate analysis (orthogonal partial least-squares discriminant …
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
2019
Purpose: To assess the contribution of rare variants in the genetic background toward variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive variants. Methods: We analyzed quantitative clinical information, exome sequencing, and microarray data from 757 probands and 233 parents and siblings who carry disease-associated variants. Results: The number of rare likely deleterious variants in functionally intolerant genes (“other hits”) correlated with expression of neurodevelopmental phenotypes in probands with 16p12.1 deletion (n=23, p=0.004) and in autism probands carrying gene-disruptive variants (n=184, p=0.03) compared with thei…
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
2019
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca2+-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE). In functional expression studies, mutations lead to a dec…
QUALITY OF INCLUSIVE EDUCATION, OBSTACLES AND NECESSARY PEDAGOGICAL SOLUTIONS IN WORKING WITH PUPILS WITH AUTISM IN ITALY
2018
Nowadays are increasingly encountered children diagnosed with autism, but there are still serious problems of inclusion of these children in the comprehensive general education system. This is due to various factors. The author of this study many years is working in the schools of special education in Rome, so in the year 2010 started research on inclusion of pupils with autism into the Italian schools. The idea is to transmit the author's knowledge and experience further in Latvia, where inclusion of such pupils into general education schools is still at an early stage because of a lack of both human resources and financial resources, as well in regard of experience and clear understanding…
On the Playing Field to Improve: A Goal for Autism.
2020
In recent years, there has been a renewed attention to lifestyle-based interventions in people with autism spectrum disorder. The positive effects of physical exercise programs have been well documented both in healthy people and in people with disabilities in the fields of psychological well-being, cognitive outcome and medical health. There is much less evidence about the opportunity to attempt a team-group sport for people with autism. Although researchers seem to suggest an overall positive effect, playing team sports for people with autism spectrum disorder (ASD) means dealing with difficulties in social interactions and limitations in motor functions. This narrative review aims to rep…