Search results for "Autism"
showing 10 items of 457 documents
Symbolic play among children with autism spectrum disorder: a scoping review
2021
Symbolic play is considered an early indicator in the diagnosis of autism spectrum disorder (ASD) and its assessment. The objective of this study was to analyze the difficulties in symbolic play experienced by children with ASD and to determine the existence of differences in symbolic play among children with ASD, children with other neurodevelopmental disorders and children with typical development. A scoping review was carried out in the Web of Science (WoS), Scopus, ERIC, and PsycInfo databases, following the extension for scoping reviews of the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement. The number of papers included in the review was 22. The r…
De novo GRIN2A variants associated with epilepsy and autism and literature review
2021
N-methyl-D-aspartate receptors (NMDAR) are di- or tri-heterotetrameric ligand-gated ion channels composed of two obligate glycine-binding GluN1 subunits and two glutamate-binding GluN2 or GluN3 subunits, encoded by GRIN1, GRIN2A–D, and GRIN3A–B receptor genes respectively. Each NMDA receptor subtype has different temporal and spatial expression patterns in the brain and varies in the cell types and subcellular localization resulting in different functions. They play a crucial role in mediating the excitatory neurotransmission, but are also involved in neuronal development and synaptic plasticity, essential for learning, memory, and high cognitive functions. Among genes coding NMDAR subunits…
Latvijas izglītības iestāžu vides piemērotība izglītojamiem ar autismu sākumskolā (1.-4. klase)
2018
Darba nosaukums: Latvijas izglītības iestāžu vides piemērotība izglītojamajiem ar autismu sākumskolā (1.-4. klase) Darba autore: Kristiāna Šūpole Darba zinātniskā vadītāja: Dr. Paed. Ilze Šūmane Pētījuma mērķis: teorētiski analizēt izglītības iestāžu vides specifikās vajadzības izglītojamajiem ar autismu un analizēt esošo situāciju Latvijas izglītības iestādēs. Darbs sastāv no divām daļām: teorētiskās un praktiskās. Teorētiskajā daļā ir analizēts autisms un nepieciešamā izglītības iestāžu vides specifika izglītojamajiem ar autismu. Praktisko daļu veido empīriskie pētījumi – izglītības iestāžu vides novērojums, izglītojamā ar autismu novērojums un anketēšana. Pētījumā tika secināts, ka Latvi…
THE EFFECTIVENESS OF TEACCH INTERVENTION IN AUTISM SPECTRUM DISORDER: A REVIEW STUDY
2018
This work includes a review of the literature to analyze the effectiveness of the TEACCH intervention, as well as the effect of this intervention on the level of parental and teachers’ stress of children with autism spectrum disorder (ASD). Considering the inclusion criteria, a total of 14 studies were analyzed. Regardless of the context of intervention, all the studies revealed developmental abilities improvements and a reduction in autistic symptoms and maladaptative behaviors. In 11 of the 14 studies, statistically significant improvements were obtained. As for the effect of the TEACCH intervention in the level of the parents or teachers stress, out of the 7 studies that evaluated stress…
El trastorno de espectro autista: delimitación lingüística
2007
El propósito de este artículo es ofrecer una caracterización y sistematización del lenguaje de los pacientes con Trastorno de espectro autista (TEA) y la relación que existe entre los diferentes rasgos que los caracterizan. De manera especial, hemos distinguido entre los rasgos de los sujetos con TEA con déficit cognitivo y los rasgos lingüísticos de los sujetos que no tienen déficit cognitivo. Hemos distinguido, asimismo, las relaciones que tienen todas estas características lingüísticas con el componente pragmático del lenguaje. Esto es, queremos mostrar que muchas deficiencias de carácter fonético/fonológico o morfosintáctico están relacionadas con el componente pragmático. En nuestra op…
Unraveling the relationship of loneliness and isolation in schizophrenia: Polygenic dissection and causal inference
2020
ABSTRACTThere is increasing recognition of the association between loneliness and social isolation (LNL-ISO) with schizophrenia. Here, we demonstrate significant LNL-ISO polygenic score prediction on schizophrenia in an independent case-control sample (N=3,488). We then dissect schizophrenia predisposing variation into subsets of variants based on their effect on LNL-ISO. Genetic variation with concordant effects in both phenotypes show significant SNP-based heritability enrichment, higher polygenic predictive ability in females and positive covariance with other mental disorders such as depression, anxiety, attention-deficit hyperactivity, alcohol use disorder, and autism. Conversely, gene…
Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans
2017
International audience; Gain-of-function mutations in some genes underlie neurodegenerative conditions, whereas loss-of-function mutations in the same genes have distinct phenotypes. This appears to be the case with the protein ataxin 1 (ATXN1), which forms a transcriptional repressor complex with capicua (CIC). Gain of function of the complex leads to neurodegeneration, but ATXN1-CIC is also essential for survival. We set out to understand the functions of the ATXN1-CIC complex in the developing forebrain and found that losing this complex results in hyperactivity, impaired learning and memory, and abnormal maturation and maintenance of upper-layer cortical neurons. We also found that CIC …
Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense var…
2019
Next-generation sequencing has revealed the major impact of de novo variants (DNVs) in developmental disorders (DD) such as intellectual disability, autism, and epilepsy. However, a substantial fraction of these predicted pathogenic DNVs remains challenging to distinguish from background DNVs, notably the missense variants acting via nonhaploinsufficient mechanisms on specific amino acid residues. We hypothesized that the detection of the same missense variation in at least two unrelated individuals presenting with a similar phenotype could be a powerful approach to reveal novel pathogenic variants. We looked for variations independently present in both our database of >1200 solo exomes and…
NBEA : developmental disease gene with early generalized epilepsy phenotypes
2018
Abstract: NBEA is a candidate gene for autism, and de novo variants have been reported in neurodevelopmental disease (NDD) cohorts. However, NBEA has not been rigorously evaluated as a disease gene, and associated phenotypes have not been delineated. We identified 24 de novo NBEA variants in patients with NDD, establishing NBEA as an NDD gene. Most patients had epilepsy with onset in the first few years of life, often characterized by generalized seizure types, including myoclonic and atonic seizures. Our data show a broader phenotypic spectrum than previously described, including a myoclonic-astatic epilepsy-like phenotype in a subset of patients. Ann Neurol 2018;84:796-803
Homocysteine Levels in Autism Spectrum Disorder: A Clinical Update
2017
Background and objective Homocysteine (Hcy) is a non-protein α-amino acid, which plays several important roles in human physiology and in the central nervous system. Although Hcy has several known biological properties in one-carbon metabolism, its overproduction might be harmful, and could add to the pathophysiology associated with ASD. We reviewed the current evidence about changes in Hcy concentration in ASD and tried to correlate its changes with the clinical profile Discussion: The concentration of the amino acid in biological fluids (blood and urine) in children/ youngs with ASD is increased in the majority of studies when comparing to typically developing control subjects. Some repor…